the function of literature review

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What is the Purpose of a Literature Review?

4-minute read

• 23rd October 2023

If you’re writing a research paper or dissertation , then you’ll most likely need to include a comprehensive literature review . In this post, we’ll review the purpose of literature reviews, why they are so significant, and the specific elements to include in one. Literature reviews can:

1. Provide a foundation for current research.

2. Define key concepts and theories.

3. Demonstrate critical evaluation.

4. Show how research and methodologies have evolved.

5. Identify gaps in existing research.

6. Support your argument.

Keep reading to enter the exciting world of literature reviews!

What is a Literature Review?

A literature review is a critical summary and evaluation of the existing research (e.g., academic journal articles and books) on a specific topic. It is typically included as a separate section or chapter of a research paper or dissertation, serving as a contextual framework for a study. Literature reviews can vary in length depending on the subject and nature of the study, with most being about equal length to other sections or chapters included in the paper. Essentially, the literature review highlights previous studies in the context of your research and summarizes your insights in a structured, organized format. Next, let’s look at the overall purpose of a literature review.

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Literature reviews are considered an integral part of research across most academic subjects and fields. The primary purpose of a literature review in your study is to:

Provide a Foundation for Current Research

Since the literature review provides a comprehensive evaluation of the existing research, it serves as a solid foundation for your current study. It’s a way to contextualize your work and show how your research fits into the broader landscape of your specific area of study.  

Define Key Concepts and Theories

The literature review highlights the central theories and concepts that have arisen from previous research on your chosen topic. It gives your readers a more thorough understanding of the background of your study and why your research is particularly significant .

Demonstrate Critical Evaluation 

A comprehensive literature review shows your ability to critically analyze and evaluate a broad range of source material. And since you’re considering and acknowledging the contribution of key scholars alongside your own, it establishes your own credibility and knowledge.

Show How Research and Methodologies Have Evolved

Another purpose of literature reviews is to provide a historical perspective and demonstrate how research and methodologies have changed over time, especially as data collection methods and technology have advanced. And studying past methodologies allows you, as the researcher, to understand what did and did not work and apply that knowledge to your own research.  

Identify Gaps in Existing Research

Besides discussing current research and methodologies, the literature review should also address areas that are lacking in the existing literature. This helps further demonstrate the relevance of your own research by explaining why your study is necessary to fill the gaps.

Support Your Argument

A good literature review should provide evidence that supports your research questions and hypothesis. For example, your study may show that your research supports existing theories or builds on them in some way. Referencing previous related studies shows your work is grounded in established research and will ultimately be a contribution to the field.  

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Literature reviews: functions, types and methods

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When we think of a literature review, we often forget to consider the different types of reviews and the different roles or functions that literature reviews can have.

In this short presentation I will first discuss some functions of literature reviews, and then make some points about how the function or purpose of your review should inform the type that you choose to do, and the methods that you employ.

• Library databases
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Library Guide to Capstone Literature Reviews: Role of the Literature Review

The role of the literature review.

Your literature review gives readers an understanding of the scholarly research on your topic.

In your literature review you will:

• demonstrate that you are a well-informed scholar with expertise and knowledge in the field by giving an overview of the current state of the literature
• find a gap in the literature, or address a business or professional issue, depending on your doctoral study program; the literature review will illustrate how your research contributes to the scholarly conversation
• provide a synthesis of the issues, trends, and concepts surrounding your research

Be aware that the literature review is an iterative process. As you read and write initial drafts, you will find new threads and complementary themes, at which point you will return to search, find out about these new themes, and incorporate them into your review.

The purpose of this guide is to help you through the literature review process. Take some time to look over the resources in order to become familiar with them. The tabs on the left side of this page have additional information.

Short video: Research for the Literature Review

Short Video: Research for the Literature Review

(4 min 10 sec) Recorded August 2019 Transcript 

Literature review as a dinner party

To think about the role of the literature review, consider this analogy:  pretend that you throw a dinner party for the other researchers working in your topic area. First, you’d need to develop a guest list.

• The guests of honor would be early researchers or theorists; their work likely inspired subsequent studies, ideas, or controversies that the current researchers pursue.
• Then, think about the important current researchers to invite. Which guests might agree with each other?  Which others might provide useful counterpoints?
• You likely won’t be able to include everyone on the guest list, so you may need to choose carefully so that you don’t leave important figures out. 
• Alternatively, if there aren’t many researchers working in your topic area, then your guest list will need to include people working in other, related areas, who can still contribute to the conversation.

After the party, you describe the evening to a friend. You’ll summarize the evening’s conversation. Perhaps one guest made a comment that sparked a conversation, and then you describe who responded and how the topic evolved. There are other conversations to share, too. This is how you synthesize the themes and developments that you find in your research. Thinking about your literature research this way will help you to present your dinner party (and your literature review) in a lively and engaging way.

Short video: Empirical research

Video: How to locate and identify empirical research for your literature review

(6 min 16 sec) Recorded May 2020 Transcript 

Here are some useful resources from the Writing Center, the Office of Research and Doctoral Services, and other departments within the Office of Academic Support. Take some time to look at what is available to help you with your capstone/dissertation.

• Familiarize yourself with Walden support
• Doctoral Capstone Resources website
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• Office of Student Research Administration
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• Visit the Writing Center

You can watch recorded webinars on the literature review in our Library Webinar Archives .

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Literature Reviews

• What is a literature review?
• Steps in the Literature Review Process
• Define your research question
• Determine inclusion and exclusion criteria
• Choose databases and search
• Review Results
• Synthesize Results
• Analyze Results
• Librarian Support

What is a Literature Review?

A literature or narrative review is a comprehensive review and analysis of the published literature on a specific topic or research question. The literature that is reviewed contains: books, articles, academic articles, conference proceedings, association papers, and dissertations. It contains the most pertinent studies and points to important past and current research and practices. It provides background and context, and shows how your research will contribute to the field. 

A literature review should: 

• Provide a comprehensive and updated review of the literature;
• Explain why this review has taken place;
• Articulate a position or hypothesis;
• Acknowledge and account for conflicting and corroborating points of view

From  S age Research Methods

Purpose of a Literature Review

A literature review can be written as an introduction to a study to:

• Demonstrate how a study fills a gap in research
• Compare a study with other research that's been done

Or it can be a separate work (a research article on its own) which:

• Organizes or describes a topic
• Describes variables within a particular issue/problem

Limitations of a Literature Review

Some of the limitations of a literature review are:

• It's a snapshot in time. Unlike other reviews, this one has beginning, a middle and an end. There may be future developments that could make your work less relevant.
• It may be too focused. Some niche studies may miss the bigger picture.
• It can be difficult to be comprehensive. There is no way to make sure all the literature on a topic was considered.
• It is easy to be biased if you stick to top tier journals. There may be other places where people are publishing exemplary research. Look to open access publications and conferences to reflect a more inclusive collection. Also, make sure to include opposing views (and not just supporting evidence).

Source: Grant, Maria J., and Andrew Booth. “A Typology of Reviews: An Analysis of 14 Review Types and Associated Methodologies.” Health Information & Libraries Journal, vol. 26, no. 2, June 2009, pp. 91–108. Wiley Online Library, doi:10.1111/j.1471-1842.2009.00848.x.

Meryl Brodsky : Communication and Information Studies

Hannah Chapman Tripp : Biology, Neuroscience

Carolyn Cunningham : Human Development & Family Sciences, Psychology, Sociology

Larayne Dallas : Engineering

Janelle Hedstrom : Special Education, Curriculum & Instruction, Ed Leadership & Policy ​

Susan Macicak : Linguistics

Imelda Vetter : Dell Medical School

For help in other subject areas, please see the guide to library specialists by subject .

Periodically, UT Libraries runs a workshop covering the basics and library support for literature reviews. While we try to offer these once per academic year, we find providing the recording to be helpful to community members who have missed the session. Following is the most recent recording of the workshop, Conducting a Literature Review. To view the recording, a UT login is required.

• October 26, 2022 recording
• Last Updated: Oct 26, 2022 2:49 PM
• URL: https://guides.lib.utexas.edu/literaturereviews

• UConn Library
• Literature Review: The What, Why and How-to Guide
• Introduction

Literature Review: The What, Why and How-to Guide — Introduction

• Getting Started
• How to Pick a Topic
• Strategies to Find Sources
• Evaluating Sources & Lit. Reviews
• Tips for Writing Literature Reviews
• Writing Literature Review: Useful Sites
• Citation Resources
• Other Academic Writings

What are Literature Reviews?

So, what is a literature review? "A literature review is an account of what has been published on a topic by accredited scholars and researchers. In writing the literature review, your purpose is to convey to your reader what knowledge and ideas have been established on a topic, and what their strengths and weaknesses are. As a piece of writing, the literature review must be defined by a guiding concept (e.g., your research objective, the problem or issue you are discussing, or your argumentative thesis). It is not just a descriptive list of the material available, or a set of summaries." Taylor, D.  The literature review: A few tips on conducting it . University of Toronto Health Sciences Writing Centre.

Goals of Literature Reviews

What are the goals of creating a Literature Review?  A literature could be written to accomplish different aims:

• To develop a theory or evaluate an existing theory
• To summarize the historical or existing state of a research topic
• Identify a problem in a field of research 

Baumeister, R. F., & Leary, M. R. (1997). Writing narrative literature reviews .  Review of General Psychology , 1 (3), 311-320.

What kinds of sources require a Literature Review?

• A research paper assigned in a course
• A thesis or dissertation
• A grant proposal
• An article intended for publication in a journal

All these instances require you to collect what has been written about your research topic so that you can demonstrate how your own research sheds new light on the topic.

Types of Literature Reviews

What kinds of literature reviews are written?

Narrative review: The purpose of this type of review is to describe the current state of the research on a specific topic/research and to offer a critical analysis of the literature reviewed. Studies are grouped by research/theoretical categories, and themes and trends, strengths and weakness, and gaps are identified. The review ends with a conclusion section which summarizes the findings regarding the state of the research of the specific study, the gaps identify and if applicable, explains how the author's research will address gaps identify in the review and expand the knowledge on the topic reviewed.

• Example : Predictors and Outcomes of U.S. Quality Maternity Leave: A Review and Conceptual Framework:  10.1177/08948453211037398  

Systematic review : "The authors of a systematic review use a specific procedure to search the research literature, select the studies to include in their review, and critically evaluate the studies they find." (p. 139). Nelson, L. K. (2013). Research in Communication Sciences and Disorders . Plural Publishing.

• Example : The effect of leave policies on increasing fertility: a systematic review:  10.1057/s41599-022-01270-w

Meta-analysis : "Meta-analysis is a method of reviewing research findings in a quantitative fashion by transforming the data from individual studies into what is called an effect size and then pooling and analyzing this information. The basic goal in meta-analysis is to explain why different outcomes have occurred in different studies." (p. 197). Roberts, M. C., & Ilardi, S. S. (2003). Handbook of Research Methods in Clinical Psychology . Blackwell Publishing.

• Example : Employment Instability and Fertility in Europe: A Meta-Analysis:  10.1215/00703370-9164737

Meta-synthesis : "Qualitative meta-synthesis is a type of qualitative study that uses as data the findings from other qualitative studies linked by the same or related topic." (p.312). Zimmer, L. (2006). Qualitative meta-synthesis: A question of dialoguing with texts .  Journal of Advanced Nursing , 53 (3), 311-318.

• Example : Women’s perspectives on career successes and barriers: A qualitative meta-synthesis:  10.1177/05390184221113735

Literature Reviews in the Health Sciences

• UConn Health subject guide on systematic reviews Explanation of the different review types used in health sciences literature as well as tools to help you find the right review type
• << Previous: Getting Started
• Next: How to Pick a Topic >>
• Last Updated: Sep 21, 2022 2:16 PM
• URL: https://guides.lib.uconn.edu/literaturereview

Libraries | Research Guides

Literature reviews, what is a literature review, learning more about how to do a literature review.

• Planning the Review
• The Research Question
• Choosing Where to Search
• Organizing the Review
• Writing the Review

A literature review is a review and synthesis of existing research on a topic or research question. A literature review is meant to analyze the scholarly literature, make connections across writings and identify strengths, weaknesses, trends, and missing conversations. A literature review should address different aspects of a topic as it relates to your research question. A literature review goes beyond a description or summary of the literature you have read. 

• Sage Research Methods Core Collection This link opens in a new window SAGE Research Methods supports research at all levels by providing material to guide users through every step of the research process. SAGE Research Methods is the ultimate methods library with more than 1000 books, reference works, journal articles, and instructional videos by world-leading academics from across the social sciences, including the largest collection of qualitative methods books available online from any scholarly publisher. – Publisher

• Next: Planning the Review >>
• Last Updated: May 2, 2024 10:39 AM
• URL: https://libguides.northwestern.edu/literaturereviews

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What is a literature review?

A literature review is a critical analysis of the literature related to your research topic. It evaluates and critiques the literature to establish a theoretical framework for your research topic and/or identify a gap in the existing research that your research will address.

A literature review is not a summary of the literature. You need to engage deeply and critically with the literature. Your literature review should show your understanding of the literature related to your research topic and lead to presenting a rationale for your research.

A literature review focuses on:

• the context of the topic
• key concepts, ideas, theories and methodologies
• key researchers, texts and seminal works
• major issues and debates
• identifying conflicting evidence
• the main questions that have been asked around the topic
• the organisation of knowledge on the topic
• definitions, particularly those that are contested
• showing how your research will advance scholarly knowledge (generally referred to as identifying the ‘gap’).

This module will guide you through the functions of a literature review; the typical process of conducting a literature review (including searching for literature and taking notes); structuring your literature review within your thesis and organising its internal ideas; and styling the language of your literature review.

The purposes of a literature review

A literature review serves two main purposes:

1) To show awareness of the present state of knowledge in a particular field, including:

• seminal authors
• the main empirical research
• theoretical positions
• controversies
• breakthroughs as well as links to other related areas of knowledge.

2) To provide a foundation for the author’s research. To do that, the literature review needs to:

• help the researcher define a hypothesis or a research question, and how answering the question will contribute to the body of knowledge;
• provide a rationale for investigating the problem and the selected methodology;
• provide a particular theoretical lens, support the argument, or identify gaps.

Before you engage further with this module, try the quiz below to see how much you already know about literature reviews.

Research and Writing Skills for Academic and Graduate Researchers Copyright © 2022 by RMIT University is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License , except where otherwise noted.

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The objective of a literature review

Questions to Consider

B. In some fields or contexts, a literature review is referred to as the introduction or the background; why is this true, and does it matter?

The elements of a literature review • The first step in scholarly research is determining the “state of the art” on a topic. This is accomplished by gathering academic research and making sense of it. • The academic literature can be found in scholarly books and journals; the goal is to discover recurring themes, find the latest data, and identify any missing pieces. • The resulting literature review organizes the research in such a way that tells a story about the topic or issue.

The literature review tells a story in which one well-paraphrased summary from a relevant source contributes to and connects with the next in a logical manner, developing and fulfilling the message of the author. It includes analysis of the arguments from the literature, as well as revealing consistent and inconsistent findings. How do varying author insights differ from or conform to previous arguments?

Language in Action

A. How are the terms “critique” and “review” used in everyday life? How are they used in an academic context?

In terms of content, a literature review is intended to:

• Set up a theoretical framework for further research • Show a clear understanding of the key concepts/studies/models related to the topic • Demonstrate knowledge about the history of the research area and any related controversies • Clarify significant definitions and terminology • Develop a space in the existing work for new research

The literature consists of the published works that document a scholarly conversation or progression on a problem or topic in a field of study. Among these are documents that explain the background and show the loose ends in the established research on which a proposed project is based. Although a literature review focuses on primary, peer -reviewed resources, it may begin with background subject information generally found in secondary and tertiary sources such as books and encyclopedias. Following that essential overview, the seminal literature of the field is explored. As a result, while a literature review may consist of research articles tightly focused on a topic with secondary and tertiary sources used more sparingly, all three types of information (primary, secondary, tertiary) are critical.

The literature review, often referred to as the Background or Introduction to a research paper that presents methods, materials, results and discussion, exists in every field and serves many functions in research writing.

Adapted from Frederiksen, L., & Phelps, S. F. (2017). Literature Reviews for Education and Nursing Graduate Students. Open Textbook Library

Review and Reinforce

Two common approaches are simply outlined here. Which seems more common? Which more productive? Why? A. Forward exploration 1. Sources on a topic or problem are gathered. 2. Salient themes are discovered. 3. Research gaps are considered for future research. B. Backward exploration 1. Sources pertaining to an existing research project are gathered. 2. The justification of the research project’s methods or materials are explained and supported based on previously documented research.

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Sourcing, summarizing, and synthesizing:  Skills for effective research writing  Copyright © 2023 by Wendy L. McBride is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License , except where otherwise noted.

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What Is A Literature Review?

A plain-language explainer (with examples).

By:  Derek Jansen (MBA) & Kerryn Warren (PhD) | June 2020 (Updated May 2023)

If you’re faced with writing a dissertation or thesis, chances are you’ve encountered the term “literature review” . If you’re on this page, you’re probably not 100% what the literature review is all about. The good news is that you’ve come to the right place.

Literature Review 101

• What (exactly) is a literature review
• What’s the purpose of the literature review chapter
• How to find high-quality resources
• How to structure your literature review chapter
• Example of an actual literature review

What is a literature review?

The word “literature review” can refer to two related things that are part of the broader literature review process. The first is the task of  reviewing the literature  – i.e. sourcing and reading through the existing research relating to your research topic. The second is the  actual chapter  that you write up in your dissertation, thesis or research project. Let’s look at each of them:

Reviewing the literature

The first step of any literature review is to hunt down and  read through the existing research  that’s relevant to your research topic. To do this, you’ll use a combination of tools (we’ll discuss some of these later) to find journal articles, books, ebooks, research reports, dissertations, theses and any other credible sources of information that relate to your topic. You’ll then  summarise and catalogue these  for easy reference when you write up your literature review chapter. 

The literature review chapter

The second step of the literature review is to write the actual literature review chapter (this is usually the second chapter in a typical dissertation or thesis structure ). At the simplest level, the literature review chapter is an  overview of the key literature  that’s relevant to your research topic. This chapter should provide a smooth-flowing discussion of what research has already been done, what is known, what is unknown and what is contested in relation to your research topic. So, you can think of it as an  integrated review of the state of knowledge  around your research topic. 

What’s the purpose of a literature review?

The literature review chapter has a few important functions within your dissertation, thesis or research project. Let’s take a look at these:

Purpose #1 – Demonstrate your topic knowledge

The first function of the literature review chapter is, quite simply, to show the reader (or marker) that you  know what you’re talking about . In other words, a good literature review chapter demonstrates that you’ve read the relevant existing research and understand what’s going on – who’s said what, what’s agreed upon, disagreed upon and so on. This needs to be  more than just a summary  of who said what – it needs to integrate the existing research to  show how it all fits together  and what’s missing (which leads us to purpose #2, next). 

Purpose #2 – Reveal the research gap that you’ll fill

The second function of the literature review chapter is to  show what’s currently missing  from the existing research, to lay the foundation for your own research topic. In other words, your literature review chapter needs to show that there are currently “missing pieces” in terms of the bigger puzzle, and that  your study will fill one of those research gaps . By doing this, you are showing that your research topic is original and will help contribute to the body of knowledge. In other words, the literature review helps justify your research topic.  

Purpose #3 – Lay the foundation for your conceptual framework

The third function of the literature review is to form the  basis for a conceptual framework . Not every research topic will necessarily have a conceptual framework, but if your topic does require one, it needs to be rooted in your literature review. 

For example, let’s say your research aims to identify the drivers of a certain outcome – the factors which contribute to burnout in office workers. In this case, you’d likely develop a conceptual framework which details the potential factors (e.g. long hours, excessive stress, etc), as well as the outcome (burnout). Those factors would need to emerge from the literature review chapter – they can’t just come from your gut! 

So, in this case, the literature review chapter would uncover each of the potential factors (based on previous studies about burnout), which would then be modelled into a framework. 

Purpose #4 – To inform your methodology

The fourth function of the literature review is to  inform the choice of methodology  for your own research. As we’ve  discussed on the Grad Coach blog , your choice of methodology will be heavily influenced by your research aims, objectives and questions . Given that you’ll be reviewing studies covering a topic close to yours, it makes sense that you could learn a lot from their (well-considered) methodologies.

So, when you’re reviewing the literature, you’ll need to  pay close attention to the research design , methodology and methods used in similar studies, and use these to inform your methodology. Quite often, you’ll be able to  “borrow” from previous studies . This is especially true for quantitative studies , as you can use previously tried and tested measures and scales. 

How do I find articles for my literature review?

Finding quality journal articles is essential to crafting a rock-solid literature review. As you probably already know, not all research is created equally, and so you need to make sure that your literature review is  built on credible research . 

We could write an entire post on how to find quality literature (actually, we have ), but a good starting point is Google Scholar . Google Scholar is essentially the academic equivalent of Google, using Google’s powerful search capabilities to find relevant journal articles and reports. It certainly doesn’t cover every possible resource, but it’s a very useful way to get started on your literature review journey, as it will very quickly give you a good indication of what the  most popular pieces of research  are in your field.

One downside of Google Scholar is that it’s merely a search engine – that is, it lists the articles, but oftentimes  it doesn’t host the articles . So you’ll often hit a paywall when clicking through to journal websites. 

Thankfully, your university should provide you with access to their library, so you can find the article titles using Google Scholar and then search for them by name in your university’s online library. Your university may also provide you with access to  ResearchGate , which is another great source for existing research. 

Remember, the correct search keywords will be super important to get the right information from the start. So, pay close attention to the keywords used in the journal articles you read and use those keywords to search for more articles. If you can’t find a spoon in the kitchen, you haven’t looked in the right drawer. 

Need a helping hand?

How should I structure my literature review?

Unfortunately, there’s no generic universal answer for this one. The structure of your literature review will depend largely on your topic area and your research aims and objectives.

You could potentially structure your literature review chapter according to theme, group, variables , chronologically or per concepts in your field of research. We explain the main approaches to structuring your literature review here . You can also download a copy of our free literature review template to help you establish an initial structure.

In general, it’s also a good idea to start wide (i.e. the big-picture-level) and then narrow down, ending your literature review close to your research questions . However, there’s no universal one “right way” to structure your literature review. The most important thing is not to discuss your sources one after the other like a list – as we touched on earlier, your literature review needs to synthesise the research , not summarise it .

Ultimately, you need to craft your literature review so that it conveys the most important information effectively – it needs to tell a logical story in a digestible way. It’s no use starting off with highly technical terms and then only explaining what these terms mean later. Always assume your reader is not a subject matter expert and hold their hand through a journe y of the literature while keeping the functions of the literature review chapter (which we discussed earlier) front of mind.

Example of a literature review

In the video below, we walk you through a high-quality literature review from a dissertation that earned full distinction. This will give you a clearer view of what a strong literature review looks like in practice and hopefully provide some inspiration for your own. 

Wrapping Up

In this post, we’ve (hopefully) answered the question, “ what is a literature review? “. We’ve also considered the purpose and functions of the literature review, as well as how to find literature and how to structure the literature review chapter. If you’re keen to learn more, check out the literature review section of the Grad Coach blog , as well as our detailed video post covering how to write a literature review . 

Psst… there’s more!

This post is an extract from our bestselling short course, Literature Review Bootcamp . If you want to work smart, you don't want to miss this .

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16 Comments

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• USC Libraries
• Research Guides

Organizing Your Social Sciences Research Paper

• 5. The Literature Review
• Purpose of Guide
• Design Flaws to Avoid
• Independent and Dependent Variables
• Glossary of Research Terms
• Reading Research Effectively
• Narrowing a Topic Idea
• Broadening a Topic Idea
• Extending the Timeliness of a Topic Idea
• Academic Writing Style
• Applying Critical Thinking
• Choosing a Title
• Making an Outline
• Paragraph Development
• Research Process Video Series
• Executive Summary
• The C.A.R.S. Model
• Background Information
• The Research Problem/Question
• Theoretical Framework
• Citation Tracking
• Content Alert Services
• Evaluating Sources
• Primary Sources
• Secondary Sources
• Tiertiary Sources
• Scholarly vs. Popular Publications
• Qualitative Methods
• Quantitative Methods
• Insiderness
• Using Non-Textual Elements
• Limitations of the Study
• Common Grammar Mistakes
• Writing Concisely
• Avoiding Plagiarism
• Footnotes or Endnotes?
• Further Readings
• Generative AI and Writing
• USC Libraries Tutorials and Other Guides
• Bibliography

A literature review surveys prior research published in books, scholarly articles, and any other sources relevant to a particular issue, area of research, or theory, and by so doing, provides a description, summary, and critical evaluation of these works in relation to the research problem being investigated. Literature reviews are designed to provide an overview of sources you have used in researching a particular topic and to demonstrate to your readers how your research fits within existing scholarship about the topic.

Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . Fourth edition. Thousand Oaks, CA: SAGE, 2014.

Importance of a Good Literature Review

A literature review may consist of simply a summary of key sources, but in the social sciences, a literature review usually has an organizational pattern and combines both summary and synthesis, often within specific conceptual categories . A summary is a recap of the important information of the source, but a synthesis is a re-organization, or a reshuffling, of that information in a way that informs how you are planning to investigate a research problem. The analytical features of a literature review might:

• Give a new interpretation of old material or combine new with old interpretations,
• Trace the intellectual progression of the field, including major debates,
• Depending on the situation, evaluate the sources and advise the reader on the most pertinent or relevant research, or
• Usually in the conclusion of a literature review, identify where gaps exist in how a problem has been researched to date.

Given this, the purpose of a literature review is to:

• Place each work in the context of its contribution to understanding the research problem being studied.
• Describe the relationship of each work to the others under consideration.
• Identify new ways to interpret prior research.
• Reveal any gaps that exist in the literature.
• Resolve conflicts amongst seemingly contradictory previous studies.
• Identify areas of prior scholarship to prevent duplication of effort.
• Point the way in fulfilling a need for additional research.
• Locate your own research within the context of existing literature [very important].

Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper. 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Jesson, Jill. Doing Your Literature Review: Traditional and Systematic Techniques . Los Angeles, CA: SAGE, 2011; Knopf, Jeffrey W. "Doing a Literature Review." PS: Political Science and Politics 39 (January 2006): 127-132; Ridley, Diana. The Literature Review: A Step-by-Step Guide for Students . 2nd ed. Los Angeles, CA: SAGE, 2012.

Types of Literature Reviews

It is important to think of knowledge in a given field as consisting of three layers. First, there are the primary studies that researchers conduct and publish. Second are the reviews of those studies that summarize and offer new interpretations built from and often extending beyond the primary studies. Third, there are the perceptions, conclusions, opinion, and interpretations that are shared informally among scholars that become part of the body of epistemological traditions within the field.

In composing a literature review, it is important to note that it is often this third layer of knowledge that is cited as "true" even though it often has only a loose relationship to the primary studies and secondary literature reviews. Given this, while literature reviews are designed to provide an overview and synthesis of pertinent sources you have explored, there are a number of approaches you could adopt depending upon the type of analysis underpinning your study.

Argumentative Review This form examines literature selectively in order to support or refute an argument, deeply embedded assumption, or philosophical problem already established in the literature. The purpose is to develop a body of literature that establishes a contrarian viewpoint. Given the value-laden nature of some social science research [e.g., educational reform; immigration control], argumentative approaches to analyzing the literature can be a legitimate and important form of discourse. However, note that they can also introduce problems of bias when they are used to make summary claims of the sort found in systematic reviews [see below].

Integrative Review Considered a form of research that reviews, critiques, and synthesizes representative literature on a topic in an integrated way such that new frameworks and perspectives on the topic are generated. The body of literature includes all studies that address related or identical hypotheses or research problems. A well-done integrative review meets the same standards as primary research in regard to clarity, rigor, and replication. This is the most common form of review in the social sciences.

Historical Review Few things rest in isolation from historical precedent. Historical literature reviews focus on examining research throughout a period of time, often starting with the first time an issue, concept, theory, phenomena emerged in the literature, then tracing its evolution within the scholarship of a discipline. The purpose is to place research in a historical context to show familiarity with state-of-the-art developments and to identify the likely directions for future research.

Methodological Review A review does not always focus on what someone said [findings], but how they came about saying what they say [method of analysis]. Reviewing methods of analysis provides a framework of understanding at different levels [i.e. those of theory, substantive fields, research approaches, and data collection and analysis techniques], how researchers draw upon a wide variety of knowledge ranging from the conceptual level to practical documents for use in fieldwork in the areas of ontological and epistemological consideration, quantitative and qualitative integration, sampling, interviewing, data collection, and data analysis. This approach helps highlight ethical issues which you should be aware of and consider as you go through your own study.

Systematic Review This form consists of an overview of existing evidence pertinent to a clearly formulated research question, which uses pre-specified and standardized methods to identify and critically appraise relevant research, and to collect, report, and analyze data from the studies that are included in the review. The goal is to deliberately document, critically evaluate, and summarize scientifically all of the research about a clearly defined research problem . Typically it focuses on a very specific empirical question, often posed in a cause-and-effect form, such as "To what extent does A contribute to B?" This type of literature review is primarily applied to examining prior research studies in clinical medicine and allied health fields, but it is increasingly being used in the social sciences.

Theoretical Review The purpose of this form is to examine the corpus of theory that has accumulated in regard to an issue, concept, theory, phenomena. The theoretical literature review helps to establish what theories already exist, the relationships between them, to what degree the existing theories have been investigated, and to develop new hypotheses to be tested. Often this form is used to help establish a lack of appropriate theories or reveal that current theories are inadequate for explaining new or emerging research problems. The unit of analysis can focus on a theoretical concept or a whole theory or framework.

NOTE : Most often the literature review will incorporate some combination of types. For example, a review that examines literature supporting or refuting an argument, assumption, or philosophical problem related to the research problem will also need to include writing supported by sources that establish the history of these arguments in the literature.

Baumeister, Roy F. and Mark R. Leary. "Writing Narrative Literature Reviews."  Review of General Psychology 1 (September 1997): 311-320; Mark R. Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Kennedy, Mary M. "Defining a Literature." Educational Researcher 36 (April 2007): 139-147; Petticrew, Mark and Helen Roberts. Systematic Reviews in the Social Sciences: A Practical Guide . Malden, MA: Blackwell Publishers, 2006; Torracro, Richard. "Writing Integrative Literature Reviews: Guidelines and Examples." Human Resource Development Review 4 (September 2005): 356-367; Rocco, Tonette S. and Maria S. Plakhotnik. "Literature Reviews, Conceptual Frameworks, and Theoretical Frameworks: Terms, Functions, and Distinctions." Human Ressource Development Review 8 (March 2008): 120-130; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016.

Structure and Writing Style

I.  Thinking About Your Literature Review

The structure of a literature review should include the following in support of understanding the research problem :

• An overview of the subject, issue, or theory under consideration, along with the objectives of the literature review,
• Division of works under review into themes or categories [e.g. works that support a particular position, those against, and those offering alternative approaches entirely],
• An explanation of how each work is similar to and how it varies from the others,
• Conclusions as to which pieces are best considered in their argument, are most convincing of their opinions, and make the greatest contribution to the understanding and development of their area of research.

The critical evaluation of each work should consider :

• Provenance -- what are the author's credentials? Are the author's arguments supported by evidence [e.g. primary historical material, case studies, narratives, statistics, recent scientific findings]?
• Methodology -- were the techniques used to identify, gather, and analyze the data appropriate to addressing the research problem? Was the sample size appropriate? Were the results effectively interpreted and reported?
• Objectivity -- is the author's perspective even-handed or prejudicial? Is contrary data considered or is certain pertinent information ignored to prove the author's point?
• Persuasiveness -- which of the author's theses are most convincing or least convincing?
• Validity -- are the author's arguments and conclusions convincing? Does the work ultimately contribute in any significant way to an understanding of the subject?

II.  Development of the Literature Review

Four Basic Stages of Writing 1.  Problem formulation -- which topic or field is being examined and what are its component issues? 2.  Literature search -- finding materials relevant to the subject being explored. 3.  Data evaluation -- determining which literature makes a significant contribution to the understanding of the topic. 4.  Analysis and interpretation -- discussing the findings and conclusions of pertinent literature.

Consider the following issues before writing the literature review: Clarify If your assignment is not specific about what form your literature review should take, seek clarification from your professor by asking these questions: 1.  Roughly how many sources would be appropriate to include? 2.  What types of sources should I review (books, journal articles, websites; scholarly versus popular sources)? 3.  Should I summarize, synthesize, or critique sources by discussing a common theme or issue? 4.  Should I evaluate the sources in any way beyond evaluating how they relate to understanding the research problem? 5.  Should I provide subheadings and other background information, such as definitions and/or a history? Find Models Use the exercise of reviewing the literature to examine how authors in your discipline or area of interest have composed their literature review sections. Read them to get a sense of the types of themes you might want to look for in your own research or to identify ways to organize your final review. The bibliography or reference section of sources you've already read, such as required readings in the course syllabus, are also excellent entry points into your own research. Narrow the Topic The narrower your topic, the easier it will be to limit the number of sources you need to read in order to obtain a good survey of relevant resources. Your professor will probably not expect you to read everything that's available about the topic, but you'll make the act of reviewing easier if you first limit scope of the research problem. A good strategy is to begin by searching the USC Libraries Catalog for recent books about the topic and review the table of contents for chapters that focuses on specific issues. You can also review the indexes of books to find references to specific issues that can serve as the focus of your research. For example, a book surveying the history of the Israeli-Palestinian conflict may include a chapter on the role Egypt has played in mediating the conflict, or look in the index for the pages where Egypt is mentioned in the text. Consider Whether Your Sources are Current Some disciplines require that you use information that is as current as possible. This is particularly true in disciplines in medicine and the sciences where research conducted becomes obsolete very quickly as new discoveries are made. However, when writing a review in the social sciences, a survey of the history of the literature may be required. In other words, a complete understanding the research problem requires you to deliberately examine how knowledge and perspectives have changed over time. Sort through other current bibliographies or literature reviews in the field to get a sense of what your discipline expects. You can also use this method to explore what is considered by scholars to be a "hot topic" and what is not.

III.  Ways to Organize Your Literature Review

Chronology of Events If your review follows the chronological method, you could write about the materials according to when they were published. This approach should only be followed if a clear path of research building on previous research can be identified and that these trends follow a clear chronological order of development. For example, a literature review that focuses on continuing research about the emergence of German economic power after the fall of the Soviet Union. By Publication Order your sources by publication chronology, then, only if the order demonstrates a more important trend. For instance, you could order a review of literature on environmental studies of brown fields if the progression revealed, for example, a change in the soil collection practices of the researchers who wrote and/or conducted the studies. Thematic [“conceptual categories”] A thematic literature review is the most common approach to summarizing prior research in the social and behavioral sciences. Thematic reviews are organized around a topic or issue, rather than the progression of time, although the progression of time may still be incorporated into a thematic review. For example, a review of the Internet’s impact on American presidential politics could focus on the development of online political satire. While the study focuses on one topic, the Internet’s impact on American presidential politics, it would still be organized chronologically reflecting technological developments in media. The difference in this example between a "chronological" and a "thematic" approach is what is emphasized the most: themes related to the role of the Internet in presidential politics. Note that more authentic thematic reviews tend to break away from chronological order. A review organized in this manner would shift between time periods within each section according to the point being made. Methodological A methodological approach focuses on the methods utilized by the researcher. For the Internet in American presidential politics project, one methodological approach would be to look at cultural differences between the portrayal of American presidents on American, British, and French websites. Or the review might focus on the fundraising impact of the Internet on a particular political party. A methodological scope will influence either the types of documents in the review or the way in which these documents are discussed.

Other Sections of Your Literature Review Once you've decided on the organizational method for your literature review, the sections you need to include in the paper should be easy to figure out because they arise from your organizational strategy. In other words, a chronological review would have subsections for each vital time period; a thematic review would have subtopics based upon factors that relate to the theme or issue. However, sometimes you may need to add additional sections that are necessary for your study, but do not fit in the organizational strategy of the body. What other sections you include in the body is up to you. However, only include what is necessary for the reader to locate your study within the larger scholarship about the research problem.

Here are examples of other sections, usually in the form of a single paragraph, you may need to include depending on the type of review you write:

• Current Situation : Information necessary to understand the current topic or focus of the literature review.
• Sources Used : Describes the methods and resources [e.g., databases] you used to identify the literature you reviewed.
• History : The chronological progression of the field, the research literature, or an idea that is necessary to understand the literature review, if the body of the literature review is not already a chronology.
• Selection Methods : Criteria you used to select (and perhaps exclude) sources in your literature review. For instance, you might explain that your review includes only peer-reviewed [i.e., scholarly] sources.
• Standards : Description of the way in which you present your information.
• Questions for Further Research : What questions about the field has the review sparked? How will you further your research as a result of the review?

IV.  Writing Your Literature Review

Once you've settled on how to organize your literature review, you're ready to write each section. When writing your review, keep in mind these issues.

Use Evidence A literature review section is, in this sense, just like any other academic research paper. Your interpretation of the available sources must be backed up with evidence [citations] that demonstrates that what you are saying is valid. Be Selective Select only the most important points in each source to highlight in the review. The type of information you choose to mention should relate directly to the research problem, whether it is thematic, methodological, or chronological. Related items that provide additional information, but that are not key to understanding the research problem, can be included in a list of further readings . Use Quotes Sparingly Some short quotes are appropriate if you want to emphasize a point, or if what an author stated cannot be easily paraphrased. Sometimes you may need to quote certain terminology that was coined by the author, is not common knowledge, or taken directly from the study. Do not use extensive quotes as a substitute for using your own words in reviewing the literature. Summarize and Synthesize Remember to summarize and synthesize your sources within each thematic paragraph as well as throughout the review. Recapitulate important features of a research study, but then synthesize it by rephrasing the study's significance and relating it to your own work and the work of others. Keep Your Own Voice While the literature review presents others' ideas, your voice [the writer's] should remain front and center. For example, weave references to other sources into what you are writing but maintain your own voice by starting and ending the paragraph with your own ideas and wording. Use Caution When Paraphrasing When paraphrasing a source that is not your own, be sure to represent the author's information or opinions accurately and in your own words. Even when paraphrasing an author’s work, you still must provide a citation to that work.

V.  Common Mistakes to Avoid

These are the most common mistakes made in reviewing social science research literature.

• Sources in your literature review do not clearly relate to the research problem;
• You do not take sufficient time to define and identify the most relevant sources to use in the literature review related to the research problem;
• Relies exclusively on secondary analytical sources rather than including relevant primary research studies or data;
• Uncritically accepts another researcher's findings and interpretations as valid, rather than examining critically all aspects of the research design and analysis;
• Does not describe the search procedures that were used in identifying the literature to review;
• Reports isolated statistical results rather than synthesizing them in chi-squared or meta-analytic methods; and,
• Only includes research that validates assumptions and does not consider contrary findings and alternative interpretations found in the literature.

Cook, Kathleen E. and Elise Murowchick. “Do Literature Review Skills Transfer from One Course to Another?” Psychology Learning and Teaching 13 (March 2014): 3-11; Fink, Arlene. Conducting Research Literature Reviews: From the Internet to Paper . 2nd ed. Thousand Oaks, CA: Sage, 2005; Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1998; Jesson, Jill. Doing Your Literature Review: Traditional and Systematic Techniques . London: SAGE, 2011; Literature Review Handout. Online Writing Center. Liberty University; Literature Reviews. The Writing Center. University of North Carolina; Onwuegbuzie, Anthony J. and Rebecca Frels. Seven Steps to a Comprehensive Literature Review: A Multimodal and Cultural Approach . Los Angeles, CA: SAGE, 2016; Ridley, Diana. The Literature Review: A Step-by-Step Guide for Students . 2nd ed. Los Angeles, CA: SAGE, 2012; Randolph, Justus J. “A Guide to Writing the Dissertation Literature Review." Practical Assessment, Research, and Evaluation. vol. 14, June 2009; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016; Taylor, Dena. The Literature Review: A Few Tips On Conducting It. University College Writing Centre. University of Toronto; Writing a Literature Review. Academic Skills Centre. University of Canberra.

Writing Tip

Break Out of Your Disciplinary Box!

Thinking interdisciplinarily about a research problem can be a rewarding exercise in applying new ideas, theories, or concepts to an old problem. For example, what might cultural anthropologists say about the continuing conflict in the Middle East? In what ways might geographers view the need for better distribution of social service agencies in large cities than how social workers might study the issue? You don’t want to substitute a thorough review of core research literature in your discipline for studies conducted in other fields of study. However, particularly in the social sciences, thinking about research problems from multiple vectors is a key strategy for finding new solutions to a problem or gaining a new perspective. Consult with a librarian about identifying research databases in other disciplines; almost every field of study has at least one comprehensive database devoted to indexing its research literature.

Frodeman, Robert. The Oxford Handbook of Interdisciplinarity . New York: Oxford University Press, 2010.

Another Writing Tip

Don't Just Review for Content!

While conducting a review of the literature, maximize the time you devote to writing this part of your paper by thinking broadly about what you should be looking for and evaluating. Review not just what scholars are saying, but how are they saying it. Some questions to ask:

• How are they organizing their ideas?
• What methods have they used to study the problem?
• What theories have been used to explain, predict, or understand their research problem?
• What sources have they cited to support their conclusions?
• How have they used non-textual elements [e.g., charts, graphs, figures, etc.] to illustrate key points?

When you begin to write your literature review section, you'll be glad you dug deeper into how the research was designed and constructed because it establishes a means for developing more substantial analysis and interpretation of the research problem.

Hart, Chris. Doing a Literature Review: Releasing the Social Science Research Imagination . Thousand Oaks, CA: Sage Publications, 1 998.

Yet Another Writing Tip

When Do I Know I Can Stop Looking and Move On?

Here are several strategies you can utilize to assess whether you've thoroughly reviewed the literature:

• Look for repeating patterns in the research findings . If the same thing is being said, just by different people, then this likely demonstrates that the research problem has hit a conceptual dead end. At this point consider: Does your study extend current research?  Does it forge a new path? Or, does is merely add more of the same thing being said?
• Look at sources the authors cite to in their work . If you begin to see the same researchers cited again and again, then this is often an indication that no new ideas have been generated to address the research problem.
• Search Google Scholar to identify who has subsequently cited leading scholars already identified in your literature review [see next sub-tab]. This is called citation tracking and there are a number of sources that can help you identify who has cited whom, particularly scholars from outside of your discipline. Here again, if the same authors are being cited again and again, this may indicate no new literature has been written on the topic.

Onwuegbuzie, Anthony J. and Rebecca Frels. Seven Steps to a Comprehensive Literature Review: A Multimodal and Cultural Approach . Los Angeles, CA: Sage, 2016; Sutton, Anthea. Systematic Approaches to a Successful Literature Review . Los Angeles, CA: Sage Publications, 2016.

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What is a Literature Review? How to Write It (with Examples)

A literature review is a critical analysis and synthesis of existing research on a particular topic. It provides an overview of the current state of knowledge, identifies gaps, and highlights key findings in the literature. 1 The purpose of a literature review is to situate your own research within the context of existing scholarship, demonstrating your understanding of the topic and showing how your work contributes to the ongoing conversation in the field. Learning how to write a literature review is a critical tool for successful research. Your ability to summarize and synthesize prior research pertaining to a certain topic demonstrates your grasp on the topic of study, and assists in the learning process. 

Table of Contents

• What is the purpose of literature review? 
• a. Habitat Loss and Species Extinction: 
• b. Range Shifts and Phenological Changes: 
• c. Ocean Acidification and Coral Reefs: 
• d. Adaptive Strategies and Conservation Efforts: 
• How to write a good literature review 
• Choose a Topic and Define the Research Question: 
• Decide on the Scope of Your Review: 
• Select Databases for Searches: 
• Conduct Searches and Keep Track: 
• Review the Literature: 
• Organize and Write Your Literature Review: 
• Frequently asked questions 

What is a literature review?

A well-conducted literature review demonstrates the researcher’s familiarity with the existing literature, establishes the context for their own research, and contributes to scholarly conversations on the topic. One of the purposes of a literature review is also to help researchers avoid duplicating previous work and ensure that their research is informed by and builds upon the existing body of knowledge.

What is the purpose of literature review?

A literature review serves several important purposes within academic and research contexts. Here are some key objectives and functions of a literature review: 2  

• Contextualizing the Research Problem: The literature review provides a background and context for the research problem under investigation. It helps to situate the study within the existing body of knowledge. 
• Identifying Gaps in Knowledge: By identifying gaps, contradictions, or areas requiring further research, the researcher can shape the research question and justify the significance of the study. This is crucial for ensuring that the new research contributes something novel to the field. 
• Understanding Theoretical and Conceptual Frameworks: Literature reviews help researchers gain an understanding of the theoretical and conceptual frameworks used in previous studies. This aids in the development of a theoretical framework for the current research. 
• Providing Methodological Insights: Another purpose of literature reviews is that it allows researchers to learn about the methodologies employed in previous studies. This can help in choosing appropriate research methods for the current study and avoiding pitfalls that others may have encountered. 
• Establishing Credibility: A well-conducted literature review demonstrates the researcher’s familiarity with existing scholarship, establishing their credibility and expertise in the field. It also helps in building a solid foundation for the new research. 
• Informing Hypotheses or Research Questions: The literature review guides the formulation of hypotheses or research questions by highlighting relevant findings and areas of uncertainty in existing literature. 

Literature review example

Let’s delve deeper with a literature review example: Let’s say your literature review is about the impact of climate change on biodiversity. You might format your literature review into sections such as the effects of climate change on habitat loss and species extinction, phenological changes, and marine biodiversity. Each section would then summarize and analyze relevant studies in those areas, highlighting key findings and identifying gaps in the research. The review would conclude by emphasizing the need for further research on specific aspects of the relationship between climate change and biodiversity. The following literature review template provides a glimpse into the recommended literature review structure and content, demonstrating how research findings are organized around specific themes within a broader topic. 

Literature Review on Climate Change Impacts on Biodiversity:

Climate change is a global phenomenon with far-reaching consequences, including significant impacts on biodiversity. This literature review synthesizes key findings from various studies: 

a. Habitat Loss and Species Extinction:

Climate change-induced alterations in temperature and precipitation patterns contribute to habitat loss, affecting numerous species (Thomas et al., 2004). The review discusses how these changes increase the risk of extinction, particularly for species with specific habitat requirements. 

b. Range Shifts and Phenological Changes:

Observations of range shifts and changes in the timing of biological events (phenology) are documented in response to changing climatic conditions (Parmesan & Yohe, 2003). These shifts affect ecosystems and may lead to mismatches between species and their resources. 

c. Ocean Acidification and Coral Reefs:

The review explores the impact of climate change on marine biodiversity, emphasizing ocean acidification’s threat to coral reefs (Hoegh-Guldberg et al., 2007). Changes in pH levels negatively affect coral calcification, disrupting the delicate balance of marine ecosystems. 

d. Adaptive Strategies and Conservation Efforts:

Recognizing the urgency of the situation, the literature review discusses various adaptive strategies adopted by species and conservation efforts aimed at mitigating the impacts of climate change on biodiversity (Hannah et al., 2007). It emphasizes the importance of interdisciplinary approaches for effective conservation planning. 

How to write a good literature review

Writing a literature review involves summarizing and synthesizing existing research on a particular topic. A good literature review format should include the following elements. 

Introduction: The introduction sets the stage for your literature review, providing context and introducing the main focus of your review. 

• Opening Statement: Begin with a general statement about the broader topic and its significance in the field. 
• Scope and Purpose: Clearly define the scope of your literature review. Explain the specific research question or objective you aim to address. 
• Organizational Framework: Briefly outline the structure of your literature review, indicating how you will categorize and discuss the existing research. 
• Significance of the Study: Highlight why your literature review is important and how it contributes to the understanding of the chosen topic. 
• Thesis Statement: Conclude the introduction with a concise thesis statement that outlines the main argument or perspective you will develop in the body of the literature review. 

Body: The body of the literature review is where you provide a comprehensive analysis of existing literature, grouping studies based on themes, methodologies, or other relevant criteria. 

• Organize by Theme or Concept: Group studies that share common themes, concepts, or methodologies. Discuss each theme or concept in detail, summarizing key findings and identifying gaps or areas of disagreement. 
• Critical Analysis: Evaluate the strengths and weaknesses of each study. Discuss the methodologies used, the quality of evidence, and the overall contribution of each work to the understanding of the topic. 
• Synthesis of Findings: Synthesize the information from different studies to highlight trends, patterns, or areas of consensus in the literature. 
• Identification of Gaps: Discuss any gaps or limitations in the existing research and explain how your review contributes to filling these gaps. 
• Transition between Sections: Provide smooth transitions between different themes or concepts to maintain the flow of your literature review. 

Conclusion: The conclusion of your literature review should summarize the main findings, highlight the contributions of the review, and suggest avenues for future research. 

• Summary of Key Findings: Recap the main findings from the literature and restate how they contribute to your research question or objective. 
• Contributions to the Field: Discuss the overall contribution of your literature review to the existing knowledge in the field. 
• Implications and Applications: Explore the practical implications of the findings and suggest how they might impact future research or practice. 
• Recommendations for Future Research: Identify areas that require further investigation and propose potential directions for future research in the field. 
• Final Thoughts: Conclude with a final reflection on the importance of your literature review and its relevance to the broader academic community. 

Conducting a literature review

Conducting a literature review is an essential step in research that involves reviewing and analyzing existing literature on a specific topic. It’s important to know how to do a literature review effectively, so here are the steps to follow: 1  

Choose a Topic and Define the Research Question:

• Select a topic that is relevant to your field of study. 
• Clearly define your research question or objective. Determine what specific aspect of the topic do you want to explore? 

Decide on the Scope of Your Review:

• Determine the timeframe for your literature review. Are you focusing on recent developments, or do you want a historical overview? 
• Consider the geographical scope. Is your review global, or are you focusing on a specific region? 
• Define the inclusion and exclusion criteria. What types of sources will you include? Are there specific types of studies or publications you will exclude? 

Select Databases for Searches:

• Identify relevant databases for your field. Examples include PubMed, IEEE Xplore, Scopus, Web of Science, and Google Scholar. 
• Consider searching in library catalogs, institutional repositories, and specialized databases related to your topic. 

Conduct Searches and Keep Track:

• Develop a systematic search strategy using keywords, Boolean operators (AND, OR, NOT), and other search techniques. 
• Record and document your search strategy for transparency and replicability. 
• Keep track of the articles, including publication details, abstracts, and links. Use citation management tools like EndNote, Zotero, or Mendeley to organize your references. 

Review the Literature:

• Evaluate the relevance and quality of each source. Consider the methodology, sample size, and results of studies. 
• Organize the literature by themes or key concepts. Identify patterns, trends, and gaps in the existing research. 
• Summarize key findings and arguments from each source. Compare and contrast different perspectives. 
• Identify areas where there is a consensus in the literature and where there are conflicting opinions. 
• Provide critical analysis and synthesis of the literature. What are the strengths and weaknesses of existing research? 

Organize and Write Your Literature Review:

• Literature review outline should be based on themes, chronological order, or methodological approaches. 
• Write a clear and coherent narrative that synthesizes the information gathered. 
• Use proper citations for each source and ensure consistency in your citation style (APA, MLA, Chicago, etc.). 
• Conclude your literature review by summarizing key findings, identifying gaps, and suggesting areas for future research. 

The literature review sample and detailed advice on writing and conducting a review will help you produce a well-structured report. But remember that a literature review is an ongoing process, and it may be necessary to revisit and update it as your research progresses. 

Frequently asked questions

A literature review is a critical and comprehensive analysis of existing literature (published and unpublished works) on a specific topic or research question and provides a synthesis of the current state of knowledge in a particular field. A well-conducted literature review is crucial for researchers to build upon existing knowledge, avoid duplication of efforts, and contribute to the advancement of their field. It also helps researchers situate their work within a broader context and facilitates the development of a sound theoretical and conceptual framework for their studies.

Literature review is a crucial component of research writing, providing a solid background for a research paper’s investigation. The aim is to keep professionals up to date by providing an understanding of ongoing developments within a specific field, including research methods, and experimental techniques used in that field, and present that knowledge in the form of a written report. Also, the depth and breadth of the literature review emphasizes the credibility of the scholar in his or her field.  

Before writing a literature review, it’s essential to undertake several preparatory steps to ensure that your review is well-researched, organized, and focused. This includes choosing a topic of general interest to you and doing exploratory research on that topic, writing an annotated bibliography, and noting major points, especially those that relate to the position you have taken on the topic. 

Literature reviews and academic research papers are essential components of scholarly work but serve different purposes within the academic realm. 3 A literature review aims to provide a foundation for understanding the current state of research on a particular topic, identify gaps or controversies, and lay the groundwork for future research. Therefore, it draws heavily from existing academic sources, including books, journal articles, and other scholarly publications. In contrast, an academic research paper aims to present new knowledge, contribute to the academic discourse, and advance the understanding of a specific research question. Therefore, it involves a mix of existing literature (in the introduction and literature review sections) and original data or findings obtained through research methods. 

Literature reviews are essential components of academic and research papers, and various strategies can be employed to conduct them effectively. If you want to know how to write a literature review for a research paper, here are four common approaches that are often used by researchers.  Chronological Review: This strategy involves organizing the literature based on the chronological order of publication. It helps to trace the development of a topic over time, showing how ideas, theories, and research have evolved.  Thematic Review: Thematic reviews focus on identifying and analyzing themes or topics that cut across different studies. Instead of organizing the literature chronologically, it is grouped by key themes or concepts, allowing for a comprehensive exploration of various aspects of the topic.  Methodological Review: This strategy involves organizing the literature based on the research methods employed in different studies. It helps to highlight the strengths and weaknesses of various methodologies and allows the reader to evaluate the reliability and validity of the research findings.  Theoretical Review: A theoretical review examines the literature based on the theoretical frameworks used in different studies. This approach helps to identify the key theories that have been applied to the topic and assess their contributions to the understanding of the subject.  It’s important to note that these strategies are not mutually exclusive, and a literature review may combine elements of more than one approach. The choice of strategy depends on the research question, the nature of the literature available, and the goals of the review. Additionally, other strategies, such as integrative reviews or systematic reviews, may be employed depending on the specific requirements of the research.

The literature review format can vary depending on the specific publication guidelines. However, there are some common elements and structures that are often followed. Here is a general guideline for the format of a literature review:  Introduction:   Provide an overview of the topic.  Define the scope and purpose of the literature review.  State the research question or objective.  Body:   Organize the literature by themes, concepts, or chronology.  Critically analyze and evaluate each source.  Discuss the strengths and weaknesses of the studies.  Highlight any methodological limitations or biases.  Identify patterns, connections, or contradictions in the existing research.  Conclusion:   Summarize the key points discussed in the literature review.  Highlight the research gap.  Address the research question or objective stated in the introduction.  Highlight the contributions of the review and suggest directions for future research.

Both annotated bibliographies and literature reviews involve the examination of scholarly sources. While annotated bibliographies focus on individual sources with brief annotations, literature reviews provide a more in-depth, integrated, and comprehensive analysis of existing literature on a specific topic. The key differences are as follows: 

References 

• Denney, A. S., & Tewksbury, R. (2013). How to write a literature review.  Journal of criminal justice education ,  24 (2), 218-234. 
• Pan, M. L. (2016).  Preparing literature reviews: Qualitative and quantitative approaches . Taylor & Francis. 
• Cantero, C. (2019). How to write a literature review.  San José State University Writing Center . 

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Literature Review: Purpose of a Literature Review

• Literature Review
• Purpose of a Literature Review
• Work in Progress
• Compiling & Writing
• Books, Articles, & Web Pages
• Types of Literature Reviews
• Departmental Differences
• Citation Styles & Plagiarism
• Know the Difference! Systematic Review vs. Literature Review

The purpose of a literature review is to:

• Provide a foundation of knowledge on a topic
• Identify areas of prior scholarship to prevent duplication and give credit to other researchers
• Identify inconstancies: gaps in research, conflicts in previous studies, open questions left from other research
• Identify the need for additional research (justifying your research)
• Identify the relationship of works in the context of their contribution to the topic and other works
• Place your own research within the context of existing literature, making a case for why further study is needed.

Videos & Tutorials

VIDEO: What is the role of a literature review in research? What's it mean to "review" the literature? Get the big picture of what to expect as part of the process. This video is published under a Creative Commons 3.0 BY-NC-SA US license. License, credits, and contact information can be found here: https://www.lib.ncsu.edu/tutorials/litreview/

Elements in a Literature Review

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Literature Review: A Definition

What is a literature review, then.

A literature review discusses and analyses published information in a particular subject area.   Sometimes the information covers a certain time period.

A literature review is more than a summary of the sources, it has an organizational pattern that combines both summary and synthesis. A summary is a recap of the important information of the source, but a synthesis is a re-organization, or a reshuffling, of that information. It might give a new interpretation of old material or combine new with old interpretations. Or it might trace the intellectual progression of the field, including major debates. And depending on the situation, the literature review may evaluate the sources and advise the reader on the most pertinent or relevant.

But how is a literature review different from an academic research paper?

While the main focus of an academic research paper is to support your own argument, the focus of a literature review is to summarize and synthesize the arguments and ideas of others. The academic research paper also covers a range of sources, but it is usually a select number of sources, because the emphasis is on the argument. Likewise, a literature review can also have an "argument," but it is not as important as covering a number of sources. In short, an academic research paper and a literature review contain some of the same elements. In fact, many academic research papers will contain a literature review section. What aspect of the study (either the argument or the sources) that is emphasized determines what type of document it is.

( "Literature Reviews" from The Writing Center, University of North Carolina at Chapel Hill )

Why do we write literature reviews?

Literature reviews provide you with a handy guide to a particular topic. If you have limited time to conduct research, literature reviews can give you an overview or act as a stepping stone.

For professionals, they are useful reports that keep them up to date with what is current in the field.

For scholars, the depth and breadth of the literature review emphasizes the credibility of the writer in his or her field. Literature reviews also provide a solid background for a research paper's investigation.

Comprehensive knowledge of the literature of the field is essential to most research papers.

Journal Articles on Writing Literature Reviews

• Research Methods for Comprehensive Science Literature Reviews Author: Brown,Barry N. Journal: Issues in Science & Technology Librarianship Date: Spring2009 Issue: 57 Page: 1 more... less... Finding some information on most topics is easy. There are abundant sources of information readily available. However, completing a comprehensive literature review on a particular topic is often difficult, laborious, and time intensive; the project requires organization, persistence, and an understanding of the scholarly communication and publishing process. This paper briefly outlines methods of conducting a comprehensive literature review for science topics. [ABSTRACT FROM AUTHOR];
• Research: Considerations in Writing a Literature Review Authors: Black,K. Journal: The New Social Worker Date: 01/01; 2007 Volume: 14 Issue: 2 Page: 12 more... less... Literature reviews are ubiquitous in academic journals, scholarly reports, and social work education. Conducting and writing a good literature review is both personally and professionally satisfying. (Journal abstract).
• How to do (or not to do) A Critical Literature Review Authors: Jesson,Jill; Lacey,Fiona Journal: Pharmacy Education Pub Date: 2006 Volume: 6 Issue: 2 Pages:139 - 148 more... less... More and more students are required to perform a critical literature review as part of their undergraduate or postgraduate studies. Whilst most of the latest research methods textbooks advise how to do a literature search, very few cover the literature review. This paper covers two types of review: a critical literature review and a systematic review. [ABSTRACT FROM AUTHOR]
• Conducting a Literature Review Authors: Rowley,Jennifer; Slack,Frances Journal: Management Research News Pub Date: 2004 Volume: 27 Issue: 6 Pages:31-39 more... less... Abstract: This article offers support and guidance for students undertaking a literature review as part of their dissertation during an undergraduate or Masters course. A literature review is a summary of a subject field that supports the identification of specific research questions. A literature review needs to draw on and evaluate a range of different types of sources including academic and professional journal articles, books, and web-based resources. The literature search helps in the identification and location of relevant documents and other sources. Search engines can be used to search web resources and bibliographic databases. Conceptual frameworks can be a useful tool in developing an understanding of a subject area. Creating the literature review involves the stages of: scanning, making notes, structuring the literature review, writing the literature review, and building a bibliography.

Some Books from the WU Catalog

• The SAGE handbook of visual research methods [electronic resource] by Edited by Luc Pauwels and Dawn Mannay. ISBN: 9781526417015 Publication Date: SAGE Publications, Inc., 2020.

Helpful Websites

• "How to do a Literature Review" from Ferdinand D. Bluford Library
• "The Literature Review: A Few Tips on Conducting It." from the University of Toronto
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• Next: Creating a Poster >>
• Last Updated: Apr 30, 2024 3:17 PM
• URL: https://libguides.wustl.edu/our

What is Literature Review? Importance, Functions, Process,

• Post last modified: 13 August 2023
• Reading time: 12 mins read
• Post category: Research Methodology

What is Literature Review?

A literature review is a critical and comprehensive analysis of existing research, studies, articles, books, and other relevant sources on a specific topic or subject. It serves as a foundational step in the research process, helping researchers understand the current state of knowledge, identify gaps in the literature, and establish a context for their own study.

Table of Content

• 1 What is Literature Review?
• 2 Importance of a Literature Review
• 3 Functions of a Literature Review
• 4.1 Search the Existing Literature in Your Field of Interest
• 4.2 Review the Literature Obtained
• 4.3 Develop a Theoretical Framework
• 4.4 Write the Literature Review
• 5 How to Write a Literature Review
• 6 Types of Sources for Review

In most research reports or research papers, you will see that literature review is an essential element and it forms the basis for advancing knowledge, facilitates theory development, discovers new research areas and closes old ones. When researchers want to understand the management dilemma, they study various books, articles and all other available sources.

In the research reports, the researchers present a summary of their search, study and evaluation of the literature that is already available related to the research topic. When the researcher presents a summary of their study of present literature in addition to their analysis of how this literature is related to or essential for the current research report; then, this process is known as literature review.

For example, in a research paper titled ‘Attrition Analysis in a Leading Sales Organisation in India’, authored by Mamta Mohapatra (International Management Institute, New Delhi, India), Amisha Gupta (Birlasoft, New Delhi, India) and Nikita Lamba (Genpact, New Delhi, India), literature review is presented as follows:

Organisations and researchers usually conduct literature review in order to establish how their own research fits within the context of existing literature.

Apart from these, some other objectives of carrying out literature review are:

• Develop an understanding of how each source of literature helps in understanding the research problem
• Examine the interrelationships among different variables
• Find out ways to interpret earlier similar researches on the topic under study
• Rectify the conflicts that exist among previously conducted studies
• Get an idea regarding the required sample size
• Get an estimate of how much variance is there in the variables of interest
• Understand the type of relationship that exists among variables
• Determine the research method that can be used in the research

Importance of a Literature Review

There are various reasons for carrying out literature review. Majorly, literature review helps in:

• Assessing the current state and level of research on a given topic
• Identifying experts related to particular research
• Identifying questions that need further research and exploration
• Identifying what methodologies have been used in the related past studies and what methodology should be used in current research
• Justifying a proposed research methodology
• Indicating the originality and relevance of the given research problem
• Demonstrating the preparedness of a researcher to complete the research

Functions of a Literature Review

Some of the major functions of literature review are:

• Establishing a context for the research
• Demonstrating that the researcher has actually read related literature extensively and is aware of most theory and methodology related to the given research topic
• Providing a shape for the research under consideration
• Establishing a connection between what the researcher is proposing and what he has already read
• Demonstrating how the findings of researcher can be integrated with the already existing research findings.
• Revealing the differences or areas of gap between present and earlier research findings
• Improving researcher’s research methodology
• Expanding researcher’s knowledge base
• Ensuring that the researcher is carrying out new research that has not been carried out earlier

Process of a Literature Review

The second step in the research process is to carry out the review of already existing literature. Before engaging in literature review, the researcher must be clear as to what is the area and topic of research. There are four steps involved in the literature review process as shown in Figure:

Search the Existing Literature in Your Field of Interest

In the literature review process, the first step is to find out what research has already been done in the area that the researcher has chosen. This step involves preparing a list or bibliography of existing sources of relevant literature such as books, journals, abstracts of articles on your research topic, citation indices and digital libraries.

Review the Literature Obtained

After the researcher has identified related literature including journals, books, research papers, etc.; the next step is to study, evaluate and analyse the literature critically. This study of literature helps a researcher identify themes and issues related to the research topic.

An evaluation of literature helps in:

• Identifying the different theories and their criticism
• Identifying different methodologies used in different studies including their sample size, data used, measurement methods
• Assessing if the researcher’s theory is confirmed beyond doubt
• Preparing a list of different opinions of different researchers and researcher should also add his/her opinion about the validity of these different opinions

Develop a Theoretical Framework

Since carrying out literature review is a time-consuming activity but the researcher has to do it within a limited time. In order to do so, the researcher usually establishes a boundary and parameters for the research work. Also, the researcher must sort information obtained from all the sources of literature. For a researcher, the theoretical framework acts as a base on which he can further or extend his research. At times, the researchers may modify their research framework after analysing the available literature.

Write the Literature Review

The last step in literature review is to make a summary of all the literature that the researcher has studied and reviewed. Usually, writing a literature review starts with a write-up on the main theme of research followed by the important ideas on which the research would focus. After this, the all the major themes and sub-themes to be discussed are organised and related. This will help the researcher in structuring the literature review. The researcher should also identify and describe the theories and studies that are relevant for the study under consideration. The researcher should then list and describe all the gaps that are present in the current body of knowledge. In addition, the researcher may also explain the recent advances and trends in the given research field. To conclude, the researcher should compare and evaluate his findings on the basis of research assumptions, related research theories, hypotheses, applied research designs, variables selected and potential future work speculated by the researchers. Finally, the researcher must acknowledge, cite and quote all the sources that he/she has used in his research. One specific characteristic of literature review is that the researcher must ensure that he gives due credit to all people who have contributed in the research work.

How to Write a Literature Review

While writing the literature review, the researcher must adopt or adhere to certain strategies as follows:

• Establish a focus around the central theme and ideas of the research
• Describe what a reader can expect from the given research study
• Organise the literature research to include basic elements such as introduction, body and conclusions

Types of Sources for Review

A researcher usually uses secondary data for literature review. Some of the major and widely used sources for literature reviews include articles in professional journals, statistical data from government websites and website material from professional organisations.

Apart from the previously mentioned sources, certain other sources of data can also be used by researchers that provide them first-hand information that is important for the study. These sources include reports, theses, emails, letters, conference proceedings, company reports, autobiographies, official reports, research articles, etc.

Apart from these, the researcher may also refer to other such as review articles, academic journals, books, newspapers, documentaries, encyclopaedias, dictionaries, bibliographies and citation indexes.

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Supply Chain

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Functions of a literature review

A literature review basically has three functions:

• to convey to the reader what knowledge and ideas have been established on a topic, and what their strengths and weaknesses are;
• in doing so, you clearly pass the message to the reader that you are familiar with these theories & ideas. Consequently, you are somewhat more of an expert writer, or so the reader may think.
• present your ideas on the matter & your theorie(s).

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Open Access

Study Protocol

Association between clinical biomechanical metrics of cervical spine function and pain or disability in people with neuromusculoskeletal neck pain: Protocol for a systematic review and planned meta-analysis

Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing

* E-mail: [email protected]

Affiliation School of Physical Therapy, Western University, London, Ontario, Canada

Roles Investigation, Methodology, Writing – review & editing

Roles Conceptualization, Methodology, Writing – review & editing

Affiliations School of Physical Therapy, Western University, London, Ontario, Canada, Physiotherapy Department, London Health Science Center (LHSC), London, Ontario, Canada

Roles Conceptualization, Investigation, Methodology, Supervision, Writing – review & editing

• Saghar Soltanabadi, 
• Sima Vatandoost, 
• Michael J. Lukacs, 
• Alison Rushton, 
• David M. Walton

• Published: May 10, 2024
• https://doi.org/10.1371/journal.pone.0303365
• Reader Comments

Introduction/Background

Neck pain is a burdensome condition associated with pain, disability, and economic cost. Neck pain has been associated with observable changes in neuromuscular function and biomechanics. Prior research shows impairments in kinematic control, including reduced mobility, velocity, and smoothness of cervical motion. However, the strength of association between these impairments and patient-reported pain and disability is unclear rendering development of novel and relevant rehabilitation strategies difficult.

The aim of this systematic review is to synthesize existing evidence on the strength of association between clinical biomechanical metrics of neck function (ROM, strength, acceleration, accuracy, smoothness, etc.) and patient-reported neck pain and disability.

Methods/Analysis

This protocol follows Cochrane guidelines and adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols (PRISMA-P). MEDLINE, EMBASE, CINAHL, SPORTDiscus, Web of Science and Scopus will be searched, along with the gray literature, up to 20 November 2023, using terms and keywords derived from initial scoping searches. Observational studies, including cohorts and cross-sectional studies, that explore associations between clinical biomechanics of the neck and patient-reported outcomes of neck pain or disability will be included. Two reviewers will independently perform study selection, data extraction, and risk of bias assessment (National Institute of Health tool). Data will be synthesized using either a random effects meta-analytic approach or qualitatively using a modified Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach, dependent on the homogeneity of data available.

Discussion and relevance

This review addresses a gap in the literature by systematically synthesizing findings on the relationship between neck function impairments and patient-reported outcomes. It will identify priorities for neck pain rehabilitation and gaps in current knowledge.

Dissemination

The results of this review will be disseminated through a peer-reviewed publication, conference presentation, and lay language summaries posted on an open-access website.

Trial registration

PROSPERO Registration number: CRD42023417317 . https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023417317 .

Citation: Soltanabadi S, Vatandoost S, Lukacs MJ, Rushton A, Walton DM (2024) Association between clinical biomechanical metrics of cervical spine function and pain or disability in people with neuromusculoskeletal neck pain: Protocol for a systematic review and planned meta-analysis. PLoS ONE 19(5): e0303365. https://doi.org/10.1371/journal.pone.0303365

Editor: Renato S. Melo, UFPE: Universidade Federal de Pernambuco, BRAZIL

Received: November 14, 2023; Accepted: April 22, 2024; Published: May 10, 2024

Copyright: © 2024 Soltanabadi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Data Availability: No datasets were generated or analysed during the current systematic review protocol. All relevant data from this study will be made available upon study completion. furthermore, a MEDLINE search strategy for the future Systematic review has been presented as a Supporting information file.

Funding: The author(s) received no specific funding for this work.

Competing interests: The authors have declared that no competing interests exist.

Introduction

Neck pain (NP) is defined as pain primarily experienced in the region bound by the occiput cranially, 1 st thoracic vertebra caudally, and lateral points of the scapular spines laterally, with or without referred pain in one or both upper limbs that lasts for at least one day [ 1 , 2 ]. NP is a major global public health concern; recent literature has indicated an estimated global point prevalence of 7.6% and a lifetime prevalence of 48.5% in the adult population [ 3 ]. Furthermore, NP often recurs as episodes throughout the lifetime [ 4 , 5 ]. NP is associated with disability [ 6 ], psychological comorbidity [ 7 , 8 ], as well as significant healthcare and financial expenses due to missed work hours and reduced productivity [ 9 ]. The Global Burden of Diseases studies have ranked neck pain fourth in terms of overall disability and 21st in terms of overall burden amongst 291 conditions studied [ 1 , 2 ].

Over the past three decades, despite active research efforts, the age-standardized point prevalence, annual incidence, and rates of years lived with disability associated with neck pain (NP) have remained largely unchanged [ 1 ]. There is a clear need for effective methods to evaluate, diagnose and treat NP. Previous studies suggest that tailored exercise programs designed to address individual functional deficits may be more effective in reducing pain and disability than general physical activity or generic neck exercises [ 10 ]. However, these findings are not always consistent [ 11 ], and overall treatment effects tend to be small [ 12 , 13 ]. Importantly, treatment approaches focused on addressing specific neck deficits demand comprehensive and reliable assessment procedures across important functional domains [ 14 ]. To achieve optimal function, current clinical guidelines recommend evaluating motion limitations, sensorimotor impairments and other symptoms to classify people with NP into 4 categories: NP with mobility deficits, NP with movement coordination impairments and whiplash, cervicogenic headaches, or radicular NP [ 15 ]. Guidelines further endorse use of active treatments, including specialized exercise plans targeting the cervical and scapulothoracic regions [ 15 , 16 ]. Within these guidelines and also based on findings of Sterling et al [ 17 ] and Stenneberg et al [ 18 ], is an implicit assumption that biomechanical impairments are consistently related to the magnitude of experienced pain or disability. However, no prior systematic approach to confirm these assumptions has been identified.

While clinical evaluation of neck function has traditionally focused on range of motion (ROM), strength, and postural observations, recent decades have seen an expansion in the ways neck function is understood and evaluated. For example, In people with NP, alterations in cervical sensory inputs can lead to impaired sensorimotor control and disrupted cervical kinematics, and have shown potentially important associations with ratings of disability or interference with daily activity [ 14 , 18 , 19 ]. The proliferation of low-cost ‘wearable’ devices such as Inertial Motion Units IMUs) in smartphones [ 20 ] or watches [ 21 ] means that collection of advanced kinematic metrics once limited to lab-based settings can now be implemented in routine clinical practice, though the relative value of such metrics or their accuracy remains largely unclear [ 22 ].

Kinematics refers to the motion of objects in space by tracking their position vectors, such as how the head moves in relation to the torso [ 23 ]. Accessible motion tracking technologies have enabled high-precision kinematic analyses in NP that go beyond single-plane ROM metrics. For instance, recent research has explored time derivatives of the position vector that are dynamic and arguably closer to ‘real-world’ neck function [ 24 – 27 ]. This includes examining motion parameters like velocity (the first derivative), acceleration (the second derivative), and jerk (the third derivative). These parameters provide objective metrics of how the head orients its sensory organs toward environmental stimuli and have been studied to gain a deeper understanding of the quality and precision of neck movement [ 19 , 27 – 29 ] that may be related to patient-reported pain and disability.

While clinical biomechanical data provide some information about the state of neck function, tenets of patient-centred care place patient experience at the centre of clinical practice and research [ 30 ]. Accordingly, patient reported outcome measures (PROMs) have become widely accepted as a standard approach to capturing and quantifying patients’ subjective experiences of pain or disability [ 31 ]. In NP, the most common PROMs used to capture patient experiences are pain intensity (e.g., Numeric Pain Rating Scale [ 32 ]) and pain-related disability (e.g., Neck Disability Index [ 33 , 34 ]). Neither PROMs nor clinical biomechanics offer a complete view in isolation, and many authors endorse integration of data from across different assessment approaches for a more holistic understanding [ 35 , 36 ].

To systematically search and synthesize existing evidence on the association between clinical biomechanical metrics of neck function (e.g., ROM, strength, acceleration, accuracy, smoothness, etc.) and subjective reports of pain and disability amongst adults with neuromusculoskeletal NP. In this review, the focus will be on the biomechanical metrics of the cervical spine that are feasibly measurable in a typical rehabilitation clinical setting (further defined below).

Methods and analysis

This systematic review protocol is designed using the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols statement ( S1 File ) [ 37 ] and is aligned with guidelines in the Cochrane Handbook [ 38 ]. The protocol is registered with PROSPERO (registration number CRD42023417317). Ethical approval was not sought for this study, as it involves the synthesis and analysis of existing literature.

Eligibility criteria

Studies will be included according to the criteria outlined below informed by an adapted PICOS (Participants, Intervention, Comparator, Outcome, and Study Design) framework [ 39 – 41 ].

Participants.

Studies investigating adults (18 years or older) with acute, subacute, or chronic NP with or without radiation will be included. This review focuses on people with neuromusculoskeletal neck pain. Studies focusing on pain arising from neck fractures or dislocations, myelopathy, cancer or tumor, autoimmune disease and infection, systemic inflammation, and post-surgical studies will be excluded.

Intervention and comparator.

Neither comparator nor intervention are considered for this review.

The studies must report and evaluate the association between at least one clinical biomechanical metric of neck function and one standardized and validated patient-reported outcome related to pain or disability of the neck.

Clinical biomechanical metrics.

The term biomechanics refers to any motion-based quantification of neck function performed under active (volitional) control of the patient/participant. To ensure the findings are relevant to rehabilitation clinicians and researchers, “clinical biomechanics” is defined as quantitation of volitional movement-based parameters that can be feasibly observed or captured by a third-person evaluator in a rehabilitation clinical environment. Common clinical biomechanical metrics will be range of motion (single or multiple planes), strength (static or dynamic), or endurance of the neck muscles [ 19 , 29 , 42 ]. While not yet routine, the emergence of accessible IMUs means that more advanced metrics like accuracy/proprioception, velocity/acceleration, and smoothness/jerk can also be considered feasible in a standard rehabilitation setting although accuracy and reliability of such data for neck evaluation has yet to be confirmed [ 43 , 44 ]. Not included will be biomechanical metrics that require advanced techniques such as real-time or dynamic imaging (e.g., fluoroscopy), cadaveric dissection, or implantable sensors.

Patient reported outcome measures.

PROMs are carefully developed, validated and standardized tools such as questionnaires to capture any report coming directly from the person experiencing NP related to their experiences with pain, functional impairment, or well-being [ 45 ]. This review will focus on PROMs measuring experiences of pain and disability that have been adequately validated by at least one prior study for use in people with neuromusculoskeletal NP [ 46 , 47 ]. These may be specifically related to the neck (e.g., Neck Disability Index [ 33 , 34 ]) or more generic (e.g., Pain Disability Index [ 48 ]). Pain scales are expected to most commonly be captured using the Visual Analog Scale (VAS) [ 49 ] or Numeric Pain Rating Scale (NPRS) [ 32 ]; however, more complex pain scales will be included if appropriate (e.g., Brief Pain Inventory [ 50 ], P4 Pain Measure [ 51 ], McGill Pain Questionnaire [ 52 ], etc.)

Study design, language, publication, setting, and time frame.

Observational studies, including retrospective and prospective longitudinal cohort, and cross-sectional studies are included if they have presented a cross-sectional (collected at the same time) [ 53 ] analysis of the association between at least one clinical biomechanical metric of the cervical spine and at least one adequately valid PROM in people with neuromusculoskeletal NP.

To reduce the risk of bias, studies of all languages will be included in the search. However, due to limitations in time and resources, studies not in English or that do not have a professional translation into English already available will be excluded but noted on the PRISMA flow diagram. No limitation on publication date or location will be applied. There will be no restrictions by type of setting, though this will be captured as part of the data extraction process.

Information sources

A systematic search in the following electronic databases will be conducted from inception to 20 November 2023: MEDLINE, Embase, Scopus, Web of Science, SPORTDiscus, and the Cumulative Index of Nursing and Applied Health Literature (CINAHL). No restriction will be imposed on the region of the studies. Literature search will be limited to human subjects.

The grey literature will include conference abstracts/proceedings and dissertations found in Embase and Scopus. The ProQuest Dissertations & Theses Global (PQDT) will be searched for relevant dissertations and theses (at https://www.proquest.com/pqdtglobal/advanced ). Other sources of health-related grey literature (e.g., “Grey Matters” (at https://greymatters.cadth.ca/ ) will be searched to ensure saturation of knowledge. The reference lists of included articles and other relevant reviews will be hand-searched to identify additional articles for inclusion.

Search strategy

The search strategy was developed in MEDLINE Ovid ( S2 File ) by the lead author in consultation with the research team who hold expertise in NP and systematic reviews, and an experienced research librarian using the Peer Review of Electronic Search Strategies (PRESS) standard [ 54 ]. The search strategy consisting of medical subject heading (MeSH) terms and text words was subsequently tailored for the other databases. The search terms mainly include the two groups of the outcomes measured by PROMs (such as neck pain, neck injuries, disability) and clinical biomechanical measures of cervical spine (such as ROM, kinematics, biomechanics, movement).

Study records

Data management..

The results of the literature search and citations will be imported and sorted in Covidence, a web-based software tool for conducting systematic reviews [ 55 , 56 ]. Duplicate studies will be identified and removed by this software prior to the screening process. Full text of potentially eligible studies identified after the title and abstract screening will be uploaded and stored in Covidence where both stages of screening occur.

Selection process.

The eligibility assessment will be performed independently by two reviewers (SS, SV) starting with title and abstract screen to remove clearly irrelevant studies. In the second stage, full texts will be independently screened for inclusion, with agreement from both reviewers required based on the predefined criteria. Disagreements at both stages will be discussed and if consensus is not achieved, a third reviewer (DW) will mediate. Cohen’s kappa will evaluate inter-reviewer agreement in both stages [ 57 ]. The entire selection process along with exclusion reasons will be documented in the PRISMA flow diagram ( Fig 1 ) for transparency and clarity [ 58 ].

• PPT PowerPoint slide
• PNG larger image
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From : Moher D, Liberati A, Tetzlaff J, Altman DG, The PRISMA Group (2009). P referred R eporting I tems for Systematic Reviews and M eta- A nalyses: The PRISMA Statement. PLoS Med 6(7): e1000097. doi: 10.1371/journal.pmed.1000097 For more information, visit www.prisma-statement.org .

https://doi.org/10.1371/journal.pone.0303365.g001

Data collection process.

Two reviewers (SS, SV) will perform data extraction independently using standardized data extraction forms. The forms will be piloted with five articles and modified where needed to ensure adequacy and between-reviewer calibration. Any disagreements in the data extracted will be discussed and resolved between the review team. Where important data are unclear or missing, the corresponding author of the manuscript will be contacted via email. Where the author does not respond after two follow up reminder emails within two-week intervals, only available data will be extracted.

Data items to be extracted from the included studies are shown in Table 1 .

https://doi.org/10.1371/journal.pone.0303365.t001

Outcomes and prioritization

The main outcome measures for this study, as mentioned previously under the eligibility criteria heading on pages 7 and 8 are in short 1) Clinical biomechanical measures of neck, and 2) self-reported measures.

Risk of Bias (RoB) for individual studies

The U.S. National Institutes of Health (NIH) Quality Assessment Tool for Observational, Cohort, and Cross-Sectional Studies (QATOCCS [ 59 ]) will be used to assess the risk of bias (RoB) in the included studies, and has been shown to be valid and reliable for observational cohort and cross-sectional studies [ 59 , 60 ]. As mentioned in the inclusion criteria for this review, observational cohort and cross-sectional designs that present a concurrent association between at least one PROM and one clinical biomechanics metric will be included. A RoB tool that can be applied to different study designs is therefore necessary, and the QATOCCS satisfies that criterion [ 19 , 29 ]. It consists of fourteen items assessing the objectives, study population, the measurement of the exposure and condition, the presence of confounding factors, and the statistical analyses used, with ‘Yes’, ‘No’, ‘Other (Cannot Determine or Not Applicable or Not Reported)’ response options [ 59 ]. Overall, the studies will be rated as “poor”, “fair”, and “good” based on the number of questions that were answered yes out of 14 questions, respectively 0–4, 5–10, and 11–14. As explained by the NIH, High risk of bias translates to a rating of poor quality, fair are studies susceptible to some bias but not enough to invalidate its results, and low risk of bias translates to a rating of “good” quality [ 59 ].

Two independent reviewers (SS, SV) will assess RoB using the QATOCCS. In case of disagreements, they will discuss to reach a consensus, and if they are unable to resolve the conflicting views, a third reviewer (DW) will mediate. Cohen’s kappa will be used to assess the agreement between reviewers and reported [ 57 ]. All tools and processes will be piloted prior to use on a randomly selected subset of 2–3 papers to ensure calibration of reviewers before independent scoring.

Data synthesis

If studies are sufficiently homogenous based on the design, population, and outcome measures (clinical biomechanical measures and PROMs) and if adequate data are available meta-analyses (MA) will be conducted. However, based on an initial scoping search, it is expected that clinical heterogeneity will be evident across samples with respect to measures, study design, and characteristics of NP that may preclude statistical synthesis. Accordingly, the project will be initiated with the goal of conducting a meta-analysis, while also describing a narrative review that will be decided upon once data are extracted.

Meta-analysis.

Where appropriate, a random-effects MA will be performed with the pooled effect indicator most likely to be Pearson’s r with 95% confidence intervals. Spearman’s rho, r-squared, or regression coefficients may be usable to estimate the correlation coefficient in the MA if sufficient supplementary data are available (e.g., unstandardized univariate effects are presented in studies using multivariate regression). I 2 test and Q values will be used as indicators of effect homogeneity. Where significant heterogeneity exists in effect sizes, potential explanations will be sought through moderator analysis, with effects stratified by meaningful variables, including the duration of symptoms or type of NP.

Proposed additional analyses.

Based on the classification of NP proposed by current clinical guidelines [ 15 ] an attempt will be made to analyze the data within the recommended subgroups of: 1) NP with mobility deficits, 2) NP with movement coordination impairments and whiplash, 3) NP with headaches, and 4) NP with radicular pain. Other subgroup analyses could be based on the duration and chronicity of NP in subgroups of: 1) acute NP, 2) subacute NP, and 3) chronic NP [ 61 ]; provided an adequate number of studies possessing all the characteristics described are included. Other potential additional analysis such as subgrouping based on different outcomes or outcome measures will be decided upon in case of sufficiently homogeneous studies.

Narrative synthesis.

Where MA cannot be conducted due to heterogeneity, the results will be summarized in a narrative format in accordance with guidance by the Cochrane Consumers and Communication Review Group [ 62 ], and using the adapted GRADE approach (Grading of Recommendations Assessment, Development and Evaluation) for reviews of observational or prognostic factors [ 63 ] to rate the overall confidence in the level of association based on RoB, inconsistency, indirectness, imprecision, and publication bias.

The guidelines describe four major steps for narrative synthesis. The first step of ‘developing a theory of how the intervention works’ will be omitted as this review does not involve interventions. This aligns with approaches adopted in previous studies [ 64 ]. The findings of eligible studies will be extracted, summarized, and organized based on similarities of clinical biomechanics in tabular format to identify patterns and relationships in the data across the included studies. Results will first be grouped by clinical biomechanical metric (e.g., ROM, accuracy) and by PROM construct (pain or disability) with synthesis occurring for each metric by each PROM construct. Magnitude of association (e.g., correlation or variance explained) is the primary construct of interest. While interpretation of correlation coefficients differs significantly among scientific research areas and there are no absolute rules for the interpretation of their strength [ 65 ], it is possible to categorize the strength of these relationships as small (0.10–0.29), medium (0.30–0.49) and large (≥0.50) [ 66 ].

Meta-bias (es).

It is recommended by PRISMA [ 39 ] that that systematic reviews explore reporting bias of included studies. Considering the inclusion criteria, which focus on observational study designs, it cannot be presumed that the protocols of these studies were registered before publication. Consequently, determining reporting bias might be challenging. Publication bias will be explored in the narrative synthesis following the GRADE approach [ 67 ], or if MA has been conducted Rosenthal’s fail-safe number or fail-safe N [ 68 ] can be calculated to estimate the “file-drawer effect”.

Confidence of cumulative evidence

If a meta-analysis is not possible, a narrative synthesis will be conducted following the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group methodology to provide information not only on the internal validity (risk of bias) of all included studies, but also external validity (inconsistency, indirectness, etc.) [ 69 ]. GRADE will be used to rate the overall quality of evidence based on five criteria including the RoB (QATOCCS [ 69 ]), consistency of results across studies, relevance of the study design to our population(s) of interest (e.g., adults with neuromusculoskeletal neck pain in rehabilitation settings), imprecision (e.g., wide confidence intervals around point estimates) and publication bias. The certainty of evidence will be rated as high, moderate, low, and very low [ 69 ] using the adapted GRADE approach for the assessment of evidence of observational and prognostic factors [ 63 , 70 ]. Final decisions on evidence summaries will be team-based.

According to the GRADE guidelines and the Cochrane Handbook [ 38 ], observational studies will initially be given a ‘low’ rating for the quality of evidence. Then the quality of evidence can be either upgraded or downgraded from this point [ 71 ]. Studies will be upgraded for factors such as 1) large effect sizes, 2) confidence in the accuracy of findings that consider the risk of bias, directness of study design, consistencies between studies in terms of populations studied, measures used, and the extent to which the sample studied is representative of the desired population [ 69 , 71 ]. Studies could be downgraded in the case of high RoB, inconsistent results, indirectness of evidence, imprecision, or suspicion of publication bias (missing data, selective reporting, or clear differences between study registration and published manuscript) [ 42 ].

NP is a highly prevalent condition that can have a significant impact on a person’s work, recreation, and quality of life. According to findings of the Global Burden of Disease Study (GBD) 2021 [ 72 ], NP has been one of the leading causes of years lived with disability since 1990. Although neck pain could have various origins, musculoskeletal causes are by far the most common [ 14 ] which are the focus of this study.

Pain and injury to any region of the musculoskeletal system, including the cervical spine, can have profound effects on the neuromuscular system that may be related to the experience of neck pain and disability. Prior work has shown kinematic impairments in some patients with NP [ 19 , 26 , 28 , 73 , 74 ], however it is not yet clear what specific impairments are most strongly associated with pain and disability.

This systematic review will provide a comprehensive assessment of current evidence. The results are expected to benefit (1) health practitioners in selection of exercises, rehabilitation methods and protocols, or suitable and efficient assessment tools based on the clinical biomechanical patterns most associated with NP; (2) patients who can use the information to seek the most relevant healthcare professional(s) for managing their neck pain; and (3) researchers and policy makers who can use the strongly associated clinical biomechanical metrics of neck motion in designing research rials and rehabilitation protocols which in turn will improve health assessment and patient care.

Supporting information

S1 file. prisma-p checklist..

https://doi.org/10.1371/journal.pone.0303365.s001

S2 File. Search strategy in the MEDLINE Ovid.

https://doi.org/10.1371/journal.pone.0303365.s002

Acknowledgments

The authors express gratitude to Alanna Marson and Maren Goodman for their invaluable assistance as librarians in conducting the systematic search for this study.

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Sexual Function After Gender Affirming Surgery

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• Published: 09 May 2024

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• Amine Sahmoud 1 ,
• Alicia R. Castellanos 2 ,
• Jessica Abou Zeki 3 &
• Rachel Pope 4  

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Purpose of Review

Sexual function and satisfaction in the transgender community is a nascent field with a paucity of data due to the fast paced nature of improving upon surgical technique and variety of patient experiences. The authors aim to review the current literature for areas of success as well as areas of improvement in order to better the sexual health of the transgender community.

Recent Findings

Gender dysphoria is a feeling of distress experienced by those whose gender assigned at birth is not in line with their gender identity. While social transition to the desired gender can suffice for some, medical and surgical interventions are often sought out to achieve gender euphoria, the decrease or absence of gender dysphoria. Often, issues with sexual function and satisfaction can trigger gender dysphoria, especially prior to social, medical, or surgical transition.

Surgical genital gender affirmation has been the most studied in terms of sexual function and improvement of gender dysphoria. Surgical complications, hormonal changes, and other organic causes of sexual dysfunction can still interfere with one’s overall sexual satisfaction. A validated measure of sexual function for trans men and trans women is needed to better assess outcomes.

Avoid common mistakes on your manuscript.

Introduction

Sexual health is multifactorial and is heavily intertwined with other aspects of one’s health status as well as quality of life [ 1 ]. Sexual dysfunction is multifactorial and can be attributed to both external and internal factors, both of which can be distressing and at times debilitating to the individual experiencing it [ 2 ]. In current literature, sexual dysfunction is often discussed in four categories: lack of desire, orgasm/ejaculatory dysfunction, arousal dysfunction, and sexually related pain and further categorized by ICD and DSM-5 diagnoses [ 3 , 4 ].

In a meta-analysis assessing sexual dysfunction, the prevalence was 31% in cisgender men and 41% in cisgender women [ 5 ]. Notably, the results of the studies in this meta analysis vary due to the different forms of measuring sexual function as there is no current gold standard for either sex. In determining the prevalence of sexual dysfunction in the transgender and gender diverse population, the data is much more limited and methods of assessment sparse. Transgender and gender diverse individuals (TGDI) are people whose gender identity is not in line with their sex [ 6 ]. TGDI is an umbrella term and can include several groups of people including transmasculine, transfeminine, and non-binary individuals [ 7 ]. Transitioning is not a requirement for being transgender, and can be social, medical and/or surgical. 1.3 million people in the United States identify as transgender [ 8 ]. Nevertheless, disparities are stark and sexual health is not an exception. In a large survey study assessing 27,715 transgender persons in 2015, both transgender men and women frequently reported delaying health care utilization due to the fear of discrimination and past experiences of discrimination [ 6 ]. To further analyze these disparities, the European Network for the Investigation of Gender Incongruence (ENIGI) came together as a multicenter establishment to study gender incongruence prospectively [ 9 ]. One study from this network demonstrated a decrease in sexual aversion with trans affirming care, both medical and surgical.

The goal of trans-affirming care is to reduce gender dysphoria and affirm TGDI in who they are via medically necessary interventions. Gender dysphoria is a feeling of distress experienced by those whose gender assigned at birth is not in line with their gender identity [ 7 ]. While social transition to the desired gender can suffice for some, medical and surgical interventions are often sought out to achieve gender euphoria, the decrease or absence of gender dysphoria [ 3 ]. Often, issues with sexual function and satisfaction can trigger gender dysphoria, especially prior to social, medical, or surgical transition. Nevertheless, this is not to say that issues surrounding sexual function and satisfaction cannot occur post-transition of any kind for the TGDI community.

Many validated sexual satisfaction and function surveys exist for cisgender individuals. These include the Sexual Health Inventory for Men (SHIM), the Index of Male Genital Self Image (IMGSI), Female Sexual Function Index (FSFI), the Female Sexual Distress Scale, and the Female Genital Self-Image Scale (FGSIS) [ 10 , 11 , 12 , 13 , 14 ]. Due to the differences in anatomy and life experience between cisgender and transgender individuals, these surveys cannot capture several aspects of function and experience for TGDI. For example, satisfaction with vaginal width and depth as well as genital self image of the vulva is not addressed in any of the available surveys [ 15 •]. Therefore, surveys are needed to be created and validated among TGDI, not only for assessment, but also for progression of surgical techniques, establishment of longitudinal post-operative care, and betterment of overall sexual health.

In this chapter we will discuss sexual function and dysfunction for TGDI. This will include the current evidence based research surrounding the topic, anatomic and hormonal considerations, pre and post-operative considerations, and future directions. Throughout the text, the authors will refer to trans men and trans women within the binary, albeit known that gender exists on a spectrum.

Prior to Medical and/or Surgical Affirming Treatments

Several factors, both mental and physical, must be considered when assessing for sexual dysfunction in TGDI prior to medical or surgical intervention as these factors contribute to one’s gender dysphoria. A systematic review of 44 studies analyzed data on sexual satisfaction, desire, arousal, orgasm, and pain [ 16 •]. Generally, studies found that a healthy and positive relationship can have a positive impact on general sexual function, orgasm frequency and associated pleasure [ 17 ].

In a survey study of 170 trans men prior to medical or surgical intervention, 42.9% experienced low sexual desire and 28.6% experienced sexual aversion [ 9 ]. Distress surrounding sexual activity or one’s own sexual health, which may or may not include individual anatomy, may impact general sexual satisfaction [ 17 , 18 ]. Thus, those experiencing high levels of gender dysphoria may have lower levels of sexual satisfaction. Dissatisfaction with one’s body, or body dysmorphia can heavily contribute to sexual dysfunction and plays a large role in gender dysphoria [ 3 ]. Specifically, one study of 141 trans men demonstrated a connection between body dysmorphia and difficulty with sexual arousal in 91% of participants [ 18 ].

Orgasm, or climax, differs per the individual and can be affected by a multitude of factors, sometimes resulting in differing intensities or its absence. While in some cases dysfunction of the orgasm is psychological in nature, in other cases it can be iatrogenic with antidepressants as a common culprit [ 6 ]. Gender dysphoria, which is often tied to depression, is often implicated in dysfunction of orgasm in trans men. One study including 211 trans men prior to medical or surgical intervention showed a 42.9% rate of difficulty with orgasm that affected their daily life [ 9 ].

The experience of pain in association with sexual activity can be extremely detrimental to one’s view of intimacy and overall sexual health. While there is not much data on sexual pain in trans men, one study found that 12% of 211 participants reported pain at the same frequency before and after genital reconstruction surgery [ 9 ]. Multiple studies found that pelvic pain was the most prevalent pain experienced prior to testosterone use [ 19 , 20 ]. In one study of 351 participants, 98.3% experienced some amount of pelvic pain prior to testosterone. Of note, another study found that history of pain with orgasm prior to testosterone initiation and persistent menstruation with testosterone were both predictors of pelvic pain after testosterone initiation [ 20 ]. Pelvic floor dysfunction remains a possibility that has not been well studied and may contribute to pelvic pain.

Trans Women

Gender affirming care is known to alleviate general distress including, but not limited to distress associated with sexual dysfunction. One study surveyed multiple treatment groups of transgender women including those with no history of hormone therapy or genital reconstruction, those who had initiated hormone therapy, and those who had undergone vaginoplasty. Those who had not undergone medical or surgical treatment had more difficulty initiating and seeking sexual contacts (40%), fear of sexual contacts (33.3%), difficulty with arousal (33.3%), and pain during sexual intercourse (28.6%) compared to those who had initiated hormone therapy (34.1%, 18.8%, 32.6%, 11.4%) and those who had undergone vaginoplasty (23%, 20.8%, 15.9%, 27.1%), respectively [ 9 ].

In investigating the ability to achieve orgasm prior to initiation of hormonal or surgical treatment, dysfunction occurred in 46.7% of 29 participants [ 9 ]. Dysfunction in this setting may be attributable to distress surrounding orgasm with natal anatomy as well as difficulty achieving orgasm. In the same study , 12% of participants expressed distress associated with ejaculation. Another study of 208 trans women who had not initiated hormone therapy reported that 18.3% of participants had never experienced a pleasant orgasm [ 21 ].

Post Medical and/or Surgical Affirming Treatments

Although gender affirming medical therapy and surgery have been shown to dramatically reduce gender dysphoria and many associated sexual dysfunctions, TGDI continue to experience both positive and sometimes negative sexual experiences with specific correlation to their transition [ 3 ].

Satisfaction

General sexual satisfaction has been shown to improve after initiation of gender affirming care, both medical and surgical. Several studies have shown a decrease in sexual distress after a combination of hormone therapy and gender affirming surgery [ 17 , 18 , 22 ]. Interestingly some studies discussed a difference in sexual satisfaction based on the type of genital reconstruction that was performed, with one study showing an increase in sexual satisfaction for those who received a metoidioplasty compared to those who received a phalloplasty [ 23 ]. Gender affirming surgery has shown to increase sexual satisfaction, even when solely analyzing body self-image as demonstrated in several studies despite surgical complications [ 23 , 24 ].

After hormonal or surgical transition, one study of 138 individuals demonstrated a 5% rate of hypoactive sexual desire disorder with 85% of these participants having completed surgery [ 25 ]. Testosterone increases sexual desire in both cisgender and transgender individuals [ 16 •]. Several studies demonstrate an increase in sexual desire in up to 60% of trans male individuals starting within months and lasting for greater than a year after initiation of testosterone [ 25 , 26 ]. Nevertheless, enhanced sexual desire is not always desirable, especially when it exceeds expectations. 3.6% of individuals in one study expressed distress from this elevation in sexual desire [ 25 ]. In examining surgical effects on sexual desire, results from studies were inconsistent and most studies determined no effects on its prevalence [ 25 , 26 ].

Some studies also investigated sexual orientation after medical and surgical affirming therapy with mixed results. One study reported 22% of 59 trans men changed their sexual orientation after medical or surgical management while another study of 50 participants found no change [ 27 , 28 ].

While body dysmorphia has a negative effect on sexual arousal, testosterone and affirming surgery via mastectomy or genital reconstruction, have demonstrated improvement in sexual arousal. One study reported a 65% improvement in sexual arousal and another study demonstrated a 18.9% decrease in arousal dysfunction after mastectomy and hysterectomy and 23.2% decrease after phalloplasty [ 9 , 17 ]. Of note, there is variability in how genital reconstruction surgeries are performed, with phalloplasties often being performed in multiple stages, thus affecting sensation and arousal perceptions depending on the stage of the procedure and techniques used.

While an orgasm has the potential to be impacted iatrogenically via certain medications, studies investigating testosterone use without gender affirming surgery did not demonstrate a significant change in intensity or ability of orgasm [ 28 ]. Of note, serum testosterone levels did not impact these findings. Most survey studies demonstrated an increase in ability to attain orgasm and an increase in intensity of the orgasm after medical and surgical transition [ 9 , 17 , 22 ]. Data from these studies showed a 30% increase in ability to orgasm during sexual intercourse or masturbation after genital reconstruction surgery, not differentiating between metoidioplasty and phalloplasty.

Trans men who had undergone phalloplasty were four times more likely to experience pain during sexual intercourse compared to those who underwent metoidioplasty [ 9 ]. A recent publication also documented complications of penile and testicular prosthesis following gender-affirming phalloplasty. Three of 45 patients experienced pelvic or pubic pain with prosthesis [ 29 ]. Individuals undergoing penile prosthetic implantation may experience acute or chronic post-operative pain. This could be due to prosthesis malpositioning, alterations in proprioceptive nerves particularly with ilioinguinal nerve coaptation, excessive pressure from the prosthesis on the skin of the free flap, or irritation of the pubic bone at the fixation point [ 30 ].

General satisfaction may be related to genital self image and its impact on gender dysphoria as well as general function. One systematic review determined that satisfaction is correlated to neovaginal function and depth, clitoral sensation, appearance of the vulva and labia minora, and natural lubrication [ 31 ]. They found that 80% of patients are satisfied with their sexual function post-vaginoplasty regardless of surgical technique and 60–80% report their neovagina is deep enough for penetration.

Several studies demonstrate a decrease in sexual desire after initiation of estrogen and antiandrogen medications [ 26 , 32 ]. Prevalence of low sexual desire ranged from 32% to 73%, but the percentage of those experiencing distress from low sexual desire or hypoactive sexual desire disorder (HSDD) was 22% in a study of 214 trans women after medical and surgical affirmation [ 9 , 25 ]. This distress associated with low sexual desire is a key marker for HSDD, a diagnosis often paired with depression [ 33 ].

Time since initiation of hormone therapy, regardless of regimen or dosage, impacts the level of sexual desire with most experiencing the decrease within the first year after initiation [ 26 , 32 ]. One study of 205 trans women demonstrated the lowest point of sexual desire occuring at three months after initiation and then returning to baseline, defined as sexual desire prior to initiation of hormone therapy, at 12 months [ 32 ]. Another study of 401 trans women found a decrease in desire occurring within the first year after initiation and returning to baseline at three years after initiation [ 26 ]. Interestingly, this study differentiated between sexual desire with and without a partner, demonstrating increased sexual desire with a partner relative to their baseline prior to initiation of hormone therapy.

With regards to gender affirming surgery and its effect on sexual desire, most studies demonstrated an overall increase in desire compared to preoperative levels. One study of 307 trans women measured sexual desire pre and post-operatively with 32.7% experiencing low sexual desire preoperatively and 18.3% experiencing low sexual desire post-operatively [ 9 ]. Decrease in desire may also occur post-operatively, especially post-orchiectomy [ 3 ]. However, patients report an enhanced degree of spontaneous sexual desire after gender affirming surgery, likely due to reduced dysphoria [ 22 ]. Add-back testosterone, phosphodiesterase type 5 (PDE5) inhibitors, and bremelanotide may be indicated in these scenarios to improve sexual desire, but data are lacking on medical treatment for transwomen after surgery [ 31 ].

Sexual arousal is defined as a positive sensory physiologic response to sexual stimuli [ 34 ]. When exploring the effects of hormone therapy in trans women on sexual arousal, most studies found no impact. One study looking at the prevalence of arousal difficulties in trans women with and without use of hormone therapy found a 32.6% and 33.3% respectively [ 9 ].

Effects of vaginoplasty on sexual arousal have also been studied. In a survey study of 119 trans women after penile inversion vaginoplasty, results showed a 71.5% ease associated with sexual arousal post-operatively as well as a correlation between ease of sexual arousal with ability to orgasm [ 34 ]. Anatomically speaking, the sensitivity of the neoclitoris was more associated with sexual arousal than was depth of the neovagina. Multiple studies have compared sexual arousal levels of trans women post-operatively with sexual arousal in cisgender women. In these studies, 90–100% of trans women reported experiencing sexual arousal post-operatively, but when level of sexual arousal was assessed using the Female Sexual Function Index (FSFI), sexual arousal scores were overall lower in trans women than in their cisgender counterparts [ 35 , 36 , 37 ]. The FSFI is a validated 19 question tool that measures sexual function in cisgender women, assessing desire, arousal, lubrication, orgasm, satisfaction, and pain [ 38 ].

Lubrication as a measure of arousal has also been assessed. While lubrication is not directly associated with neovaginal function, it can be more prevalent in certain vaginoplasty types. FSFI scores assessing lubrication for cisgender women and trans women were obtained with subgroup analyses differentiating between penile inversion vaginoplasties and intestinal vaginoplasties [ 35 , 36 , 37 ]. Lubrication scores out of 6 were on average 5.7 for cisgender women, 2.8 for trans women who received a penile inversion and 4.0 for trans women who received an intestinal vagina. One study was also done to investigate the association of lubrication with arousal in trans women and demonstrated a 64.3% rate of lubrication during sexual arousal and 76% rate of lubrication during orgasm [ 22 ].

In trans women who have initiated hormone therapy, but who have not undergone genital reconstruction surgery, difficulty in achieving orgasm was seen to decrease. In one study, the prevalence of orgasmic dysfunction decreased to 29.2% from 46.7% after the initiation of hormone therapy [ 9 ]. Whether this finding can be attributed to the simultaneous decrease in gender dysphoria and body dysmorphia associated with the initiation of hormone therapy still needs to be investigated.

Ability to orgasm in trans women post-vaginoplasty has also been studied. Due to the unique anatomy of trans women post-operatively, it must be noted that orgasms can occur at multiple locations including the clitoris and prostate via masturbation or vaginal penetration, for example. There is variability in the rates of orgasm post-operatively with studies citing percentages between 40–100% [ 35 , 36 , 37 ]. These studies used the FSFI to assess orgasmic scores and demonstrated ranges of 2.82 to 4.0 out of 6 in comparison to cisgender women without sexual dysfunction who scored an average of 5.1. When analyzing the correlation between sexual activity and achieving orgasm, one study found that direct stimulation of the clitoris had a higher frequency of orgasm when compared to intercourse [ 34 ]. In assessing frequency and quality of orgasms post-operatively, studies are inconsistent. While one study reported an increase in orgasm frequency with sexual activity post-operatively, another study of 91 trans women post-operatively found orgasms to occur less frequently in 52.6% of participants and more frequently in 20.5% of participants [ 22 , 34 ]. Quality of orgasms, when investigated, was found to be more pleasurable postoperatively in 51% of a 218 person study and with no changes in 62.5% of a 31 person study [ 37 , 39 ].

Experiencing pain during sex is associated with reduced overall sexual health [ 40 ]. Sexual pain can be further specified by timing as well as anatomic location with some experiencing pain on insertion or after sexual intercourse and some experiencing either clitoral, vulvar, or vaginal pain during sexual activity. In one survey study delineating between those who had initiated hormone therapy and those who had also undergone vaginoplasty, pain during sexual intercourse occurred at a rate of 11.4% and 27.1% respectively and pain after sexual intercourse occurred at a rate of 9.1% and 16.7% respectively demonstrating a relative increase in sexual pain post-operatively [ 9 ]. Dyspareunia, or pain during sexual activity, can have multiple causes dependant on anatomic location including hair in the vaginal canal, small or stenosed vaginal canal, vaginal dryness, and painful clitoral sensation, sometimes due to spongiosum remnants during arousal [ 41 ].

Anatomic and Surgical Considerations

When it comes to phalloplasty, surgical technique, staging processes, flaps utilized and donor nerves selected have been markedly variable. Radial forearm phalloplasty, utilizing the radial forearm flap for phallic construction, has been the most common. Although the cutaneous sensibility of the radial flap is less than that of a male phallus, its thinness and the high density of cutaneous innervation from the medial and lateral antebrachial cutaneous nerves give it a sensory advantage over other flaps. The anterolateral thigh flap for example, is the second most commonly utilized flap, in which the lateral femoral cutaneous nerve allows for sensation. However, this flap has a lower density of innervation, and possesses considerable thickness which necessitates thinning, a procedure that risks sensation. Lastly, the latissimus dorsi flap is considered insensate because the intercostal nerves which provide cutaneous sensation to this flap are not coapted [ 42 ].

Four regional nerves can be utilized as donor nerves for the neophallus: the left or right dorsal nerves of the clitoris which are branches of the pudendal nerve, the ilioinguinal nerve, and the genital branch of the genitofemoral nerve. Transecting one for donor use while maintaining innervation of the clitoris with another can preserve erogenous sensation. About 100% of transgender people who have undergone phalloplasty reported maintained erogenous sensation, and that is due to preservation of innervation to their buried clitoris. Consequently, it is advised against using both branches of the dorsal nerve to innervate the neophallus, suggesting that erogenous sensation post-phalloplasty is more related to preserving sensation in the buried clitoris, rather than creating a phallus with erogenous capacity [ 42 ]. Testing for sensation in the neophallus is complicated by the fact that movement of the neophallus may inadvertently result in pulling on the innervated mons pubis or stimulating the buried clitoris, meaning new sensory testing methods that isolate the phallus must be adapted [ 42 ].

A systematic review and meta-analysis found the overall complication rate of phalloplasty to be 76.5% [ 43 ], with higher rates of complication in two-stage phalloplasty compared to single-stage phalloplasty [ 44 ]. Following the initial surgery, some patients choose to have a secondary procedure to improve aesthetic and functional outcomes. One study found secondary phalloplasty following primary metoidioplasty was done for the following reasons: to have a larger phallus (38.6%), to allow for penetrative sex (30.1%), and to void while standing (18.1%), while 20.5% of patients had a metoidioplasty done as the first step toward a phalloplasty [ 45 ]. In one study, 17% of 69 Trans masculine people who de-transitioned cited medical complications as the main reason [ 30 ].

Aside from sexual function outcomes, 93.9% of patients report tactile sensation and 92.2% of patients report an ability to void while standing following phalloplasty [ 43 ]. Across metoidioplasty techniques, an ability to void while standing was reported in most patients, with the lowest rate (67%) reported with the labial ring flap technique [ 46 ].

The optimal surgical techniques for sexual function have not been determined. One study stated that the goal is to create a canal that is “moist, elastic, hairless, at least 11 cm deep and at least 3 cm wide to allow for receptive intercourse” [ 35 ]. The neoclitoris is made from the glans penis, preserving the neuro-vascular bundle. The neurovascular bundle of the penis extends from 11 and 1 o’clock to the urethral spongiosum [ 47 ]. To surgically elevate the neurovascular bundle, the dissection needs to remain directly on top of the tunica albuginea to prevent neuronal injury. Therefore, as long as the surgical planes are respected, injury to the nerves should be avoided and sensation should be intact after surgery. However, up to 18% report uncomfortable or painful clitoral sensation after surgery [ 48 ]. Specifically, recession of the clitoral hood causes high risk of hypersensitivity. Fortunately, most individuals (70%) can achieve orgasm after revision of the clitoris and/or hood.

In a large cohort study of 869 patients undergoing vaginoplasty, 220 (25.3%) suffered at least one complication, with 97 developing a complication that required surgical intervention. The most common complications reported were bleeding (5.8%), stricture (3.2%), fistula (0.7%) and surgical site bleeding, breakdown or infection (5.7%) [ 49 ].

A more recent systematic review reported the incidence of vaginal stenosis following vaginoplasty to be 5.83% (range of 0%-34.2%) with the rate of vaginal stenosis greater in the penile inversion vaginoplasty subgroup compared to the primary intestinal vaginoplasty subgroup, 5.7% and 0.2% respectively [ 50 ].

Of those affected with vaginal stenosis, 73.5% of patients experienced difficulty with vaginal dilation in the post-operative period, indicating that stenosis of the neovagina is often related to discontinuation of dilation due to pain [ 51 ]. Vaginal dilation is required for all types of vaginoplasty that incorporate a canal. While surgeons differ on post-operative instructions, many recommend 3 times daily dilation for the first month, followed by twice daily for several months until only once daily is sufficient to keep the vaginal canal patent before regular penetrative sexual activity, if desired. This highly demanding schedule often leads to non-adherence and vaginal stenosis, most commonly in the first year post-operatively.

Revision surgery may include procedures to address complications, aesthetics, or functional issues. One study found that 40 out of 354 patients that underwent trans feminizing vaginoplasty required cosmetic revision surgery with no difference in revision prevalence between vaginoplasty techniques. The most frequent revisions are labiaplasty, clitoroplasty, mons venus, and urethral meatoplasty [ 52 ]. Another study found that up to 80% of patients undergo secondary procedures to optimize function or improve vulvar aesthetics [ 1 ].

Both medical and surgical affirmation care is improving with the overall goal of reducing gender dysphoria. Nevertheless, there are multiple areas for growth. Trans men and women undergo medical and surgical transitions in ways that affect sexual function and satisfaction. These sexual experiences can be directly correlated to gender affirming medical and surgical interventions. Overall, despite medical and specifically surgical complications, satisfaction with transition and sexual health is high. To better assess sexual health in this community, the authors stress the importance of tools to evaluate all aspects of sexual function and satisfaction that are unique to the TGDI population.

Data Availability

No datasets were generated or analysed during the current study.

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Sahmoud, A., Castellanos, A.R., Zeki, J.A. et al. Sexual Function After Gender Affirming Surgery. Curr Obstet Gynecol Rep (2024). https://doi.org/10.1007/s13669-024-00390-1

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Race Adjustment of Pulmonary Function Tests in the Diagnosis and Management of COPD: A Scoping Review

Affiliations.

• 1 Pulmonary and Critical Care Medicine Division, Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA.
• 2 Clinical Research Center, Morehouse School of Medicine, Atlanta, GA, USA.
• 3 Center of Excellence for the Validation of Digital Health Technologies and Clinical Algorithms, Morehouse School of Medicine, Atlanta, GA, USA.
• 4 Bernard Becker Medical Library, Washington University in St. Louis, St. Louis, MO, USA.
• PMID: 38708410
• PMCID: PMC11067926
• DOI: 10.2147/COPD.S430249

Aim: Increasing evidence suggests that the inclusion of self-identified race in clinical decision algorithms may perpetuate longstanding inequities. Until recently, most pulmonary function tests utilized separate reference equations that are race/ethnicity based.

Purpose: We assess the magnitude and scope of the available literature on the negative impact of race-based pulmonary function prediction equations on relevant outcomes in African Americans with COPD.

Methods: We performed a scoping review utilizing an English language search on PubMed/Medline, Embase, Scopus, and Web of Science in September 2022 and updated it in December 2023. We searched for publications regarding the effect of race-specific vs race-neutral, race-free, or race-reversed lung function testing algorithms on the diagnosis of COPD and COPD-related physiologic and functional measures. Joanna Briggs Institute (JBI) guidelines were utilized for this scoping review. Eligibility criteria: The search was restricted to adults with COPD. We excluded publications on other lung disorders, non-English language publications, or studies that did not include African Americans. The search identified publications. Ultimately, six peer-reviewed publications and four conference abstracts were selected for this review.

Results: Removal of race from lung function prediction equations often had opposite effects in African Americans and Whites, specifically regarding the severity of lung function impairment. Symptoms and objective findings were better aligned when race-specific reference values were not used. Race-neutral prediction algorithms uniformly resulted in reclassifying severity in the African Americans studied.

Conclusion: The limited literature does not support the use of race-based lung function prediction equations. However, this assertion does not provide guidance for every specific clinical situation. For African Americans with COPD, the use of race-based prediction equations appears to fall short in enhancing diagnostic accuracy, classifying severity of impairment, or predicting subsequent clinical events. We do not have information comparing race-neutral vs race-based algorithms on prediction of progression of COPD. We conclude that the elimination of race-based reference values potentially reduces underestimation of disease severity in African Americans with COPD.

Keywords: African Americans; lung function prediction equations; lung function tests.

© 2024 Davidson et al.

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Perioperative management of a patient with unexpectedly detected early-stage ovarian mucinous carcinoma combined with progressive bulbar paralysis: a case report and literature review

• Dingbei Zhang 1   na1 ,
• Ruibo Xu 2   na1 ,
• Tingting Huo 3 ,
• Ying Liu 4 ,
• Zengfang Hao 5 ,
• Yao Sun 1 ,
• Xiaoyu Xi 1 ,
• Xiaoli Du 6 ,
• Lili Wang 1 &
• Jiexian Du 1  

BMC Women's Health volume  24 , Article number:  274 ( 2024 ) Cite this article

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Giant ovarian cysts (GOCs)complicated with progressive bulbar paralysis (PBP) are very rare, and no such literature about these cases have been reported. Through the diagnosis and treatment of this case, the perioperative related treatment of such patients was analyzed in detail, and early-stage ovarian mucinous carcinoma was unexpectedly found during the treatment, which provided reference for clinical diagnosis and treatment of this kind of diseases.

Case presentation

In this article, we reported a 38-year-old female patient. The patient was diagnosed with PBP 2 years ago. Examination revealed a large fluid-dominated cystic solid mass in the pelvis measuring approximately 28.6×14.2×8.0 cm. Carbohydrate antigen19-9(CA19-9) 29.20 IU/mL and no other significant abnormalities were observed. The patient eventually underwent transabdominal right adnexal resection under regional anesthesia, epidural block. Postoperative pathology showed mucinous carcinoma in some areas of the right ovary. The patient was staged as stage IA, and surveillance was chosen. With postoperative follow-up 1 month later, her CA19-9 decreased to 14.50 IU/ml.

Conclusions

GOCs combined with PBP patients require a multi-disciplinary treatment. Preoperative evaluation of the patient's PBP progression, selection of the surgical approach in relation to the patient's fertility requirements, the nature of the ovarian cyst and systemic condition are required. Early mucinous ovarian cancer accidentally discovered after operation and needs individualized treatment according to the guidelines and the patient's situation. The patient's dysphagia and respiratory function should be closely monitored during the perioperative period. In addition, moral support from the family is also very important.

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Ovarian cysts are the most common female pelvic masses, and when ovarian cysts are larger than 10 cm in diameter, they are called giant ovarian cysts (GOCs) [ 1 ]. GOCs can cause abdominal distention, pain, nausea and vomiting, and even intestinal obstruction and hydronephrosis.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease of the human motor system, clinically characterized by upper and lower motor neuron dysfunction, with an incidence of 1.7/100,000 and a median survival of approximately 5 years after diagnosis [ 2 ]. Progressive bulbar palsy (PBP), or called bulbar phenotype ALS is mainly characterized by dysarthria and/or dysphagia. The median survival time of PBP was shorter than other subgroups. Since the patient's ovarian cancer was discovered unexpectedly, the article focuses on GOCs combined with PBP. PBP poses a great challenge to the perioperative management of patients with GOCs, so the purpose of this article is to discuss the perioperative management of patients with GOCs combined with PBP.

A 38-year-old female is presented with a large pelvic mass. Gynecologic ultrasound showed a large fluid-dominated mass and measuring approximately 28.6×14.2×8.0 cm (Fig. 1 A, B ). Color Doppler ultrasound showed no particular abnormal blood flow signal (Fig. 1 C). Computerized tomography (CT) showed slight dilatation of renal pelvis and right ureter, and compression of adjacent intestine. The lesion size was approximately 15.0×7.1×27.2 cm, with no significant enhancement of the cystic component and more uniform enhancement of the solid component (Fig. 1 D-F). Carbohydrate antigen 19-9(CA19-9) 29.20 IU/mL, remaining examination were normal.

The red arrows represent pelvic and abdominal masses, this yellow arrow represents the compressed renal pelvis and the right ureter, and the green arrows represent the compressed intestine. Figures A - C are gynecological ultrasound images. Figures A and B show a giant fluid-dominated mass from the suprapubic area between the umbilicus and the glabella, reaching the anterior axillary line on both sides, with a size of about 28.6×14.2 cm. Figure C : color Doppler ultrasound showed no significant abnormal blood flow signal. Figure D - F : the size of the lesion was about 15.0×7.1×20.2 cm, with no significant enhancement of the cystic component and more uniform enhancement of the solid component after enhancement

Two years ago, she developed pharyngeal discomfort, nausea while reading and brushing teeth, which gradually worsened. A year and a half ago, she had inflexible tongue movements, slurred speech, low pitch, choking and coughing. Patient did not take riluzole or other drugs. The neurological examination of this hospitalization said: poor dysarthria, tongue muscle atrophy, eye reflexes not elicited, muscle strength of both upper limbs grade 5-, muscle strength of both lower limbs grade 5. Pulmonary function tests were not performed because the patient had puffing and leaking air. The score of Amyotrophic lateral sclerosis functional rating scale revised (ALSFRS-R) was 44, indicating that most of the daily activities of the patient were not affected. The results of the SDS depression self-assessment scale showed a crude score of 32 and the standard score was 40, indicating that the patient was not depressed. The rest of the examination did not show any significant abnormalities.

With multi-disciplinary treatment (MDT) discussion before operation, the patient finally chose midline laparotomy and underwent right adnexectomy under regional anesthesia with an epidural gap block. The incision reaches above the umbilicus. Intraoperatively, atropine was used to suppress glandular secretion and inhibit saliva production, thereby reducing swallowing action. Lidocaine and ropivacaine can relieve pain, and the block plane reached T10, and the VAS score of tolerable pain during operation was 6. Intraoperative exploration revealed no ascites in the pelvic abdomen and an irregular cyst in the right ovary, approximately 30 cm in diameter, with an intact envelope and smooth surface. Right adnexal resection was performed after aspiration of some intracapsular fluid by puncture. The specimen had smooth walls, viscous intracapsular fluid, locally visible gelatinous tissue, but no cauliflower-like masses or papillae, and normal appearance of the right fallopian tube. During the operation, the patient and her family refused to have a complete staging operation.

After operation, MDT found that the patient recovered well without nausea, vomiting, cough, sputum or dyspnea, and a tolerable pain VAS score of 8, along with good wound healing. And the symptoms of PBP did not worsen. The postoperative pathology suggested (right ovary) junctional mucinous tumor with some areas showing mucinous carcinoma and no clear intravascular carcinoma emboli: the (right) fallopian tube did not show carcinoma (Fig. 2 ). After consultation with the patient and family, it was decided to surveillance. One month after surgery, CA19-9 decreased to 14.50 IU/ml.

Postoperative pathology suggested (right ovary) junctional mucinous tumor with some areas showing mucinous carcinoma, the tumor size was about 15cm×10cm×5cm, no definite intravascular carcinoma embolus was seen: (right) fallopian tube did not show carcinoma

Preoperative analysis

It is very important to judge the benign and malignant of GOCs before operation. According to the tumor markers of patients, Carbohydrate antigen 125 (CA125) and Human epididymal secretory protein 4 (HE4) are the most valuable tumor markers applied to ovarian cysts. Alpha-fetoprotein (AFP) and CA19-9 is also used to evaluate the nature of the tumor [ 3 , 4 ]. The overall sensitivity of CA125 in differentiating benign and malignant tumors is 61% ~ 90%; The specificity was 71%~93%, the positive predictive value (PPV) was 35%~91%, and the negative predictive value (NPV) was 67%~90% [ 5 ]. HE4 is a potential biological marker for differentiating benign and malignant ovarian tumors. Combined examination of HE4 and CA125 can further improve the sensitivity and specificity of diagnosis of ovarian malignant tumor [ 6 ]. AFP is a specific marker of ovarian endodermal sinus tumor and can also be used in diagnosis. The patients reported in this report showed no abnormality in CA125, HE4 and AFP, while CA19-9 was slightly elevated. According to the values of CA125 and HE4, the calculated ROMA index is 7.341%, suggesting that ovarian cancer is of low risk and may be a benign tumor. Regarding the risk assessment methods of benign and malignant ovarian cysts, according to the rules of the International Ovarian Tumor Analysis Group (IOTA) [ 4 ], the rules consist of five characteristics indicating malignant lesions (M rule) and five characteristics indicating benign lesions (B rule). Among them, the malignant standard (M rule) is multilocular cystic solid lesion (maximum diameter ≥100mm、color score 2-3). Therefore, it has the characteristics of M and belongs to malignant tumor according to IOTA classification.

The neurologist needs a neurological examination, including muscle volume, muscle strength, swallowing function, speech function, and respiratory function. ALSFRSr includes four domains: medullary function, fine motor function, gross motor function and respiratory function, and is an important tool for functional assessment of ALS [ 7 ]. Forced vital capacity (FVC), maximum inspiratory pressure (MIP) can be a good measure of diaphragmatic strength. In patients with advanced or medullary involvement, due to difficulties in forming a tight seal around the mouth, collapse of the upper airway, and motor defects of the airway and upper airway muscles, sniffing nasal inspiratory pressure (SNIP) is a good measurement tool [ 8 ].

Anesthetic management must consider the effects on respiratory function. It has been shown that general anesthesia inhibits the excitability of spinal motor neurons while depressing the respiratory system, which may accelerate motor neuron disease after surgery [ 9 ]. Cases related to neurological sequelae after spinal anesthesia have been reported in the past, while the concentration of local anesthetics in the cerebrospinal fluid is much smaller during epidural anesthesia, and it seems prudent to use epidural anesthesia [ 10 , 11 ].

The patient's ovarian tumor had compressed the renal pelvis and ureter, and malignancy could not be completely ruled out, so surgery was recommended. Since the patient had no fertility requirements and could not tolerate multiple surgeries, a right ovariectomy was planned. Because laparoscopic surgery requires the injection of carbon dioxide (CO2) into the abdominal cavity, resulting in intra-abdominal pressure (IAP) of 12 to 15 mmHg, increased IAP, displacement of the diaphragm cephalad, and decreased pulmonary compliance, this may lead to a ventilation-perfusion mismatch, resulting in hypoxemia, and this is further exacerbated in the trending supine position (hammerhead supine position). Abdominal distension may also lead to pulmonary complications such as hypercapnia and subcutaneous emphysema [ 12 ]. If we choose gasless laparoscopy, it may lead to the rupture of giant ovarian cyst during the operation, which will affect the prognosis. Attempted laparoscopic surgery is a great challenge for PBP patients. A combined intra-neurological and anesthetic evaluation of the patient for feasible surgery resulted in the choice of transabdominal right adnexal resection with epidural gap block.

Precautions during operation

Hemodynamic instability is a worrisome complication of GOCs surgery. Large masses compress the vena cava, thereby reducing venous return, and further instability is caused by dilatation of the visceral vessels after mass resection [ 13 , 14 ]. The masses should be removed slowly intraoperatively, and changes in blood volume should be closely monitored and managed promptly.

During epidural anesthesia, the plane of anesthesia should not be chosen too high (L12-S1~2 plane), otherwise it will affect the patient's respiratory function, and when the patient has pain intolerance during operation, analgesics are given promptly to relieve pain [ 10 ]. Concerning salivation, anticholinergic drugs and botulinum toxin can be used to reduce glandular secretion [ 15 ]. The early sensitivity of percutaneous blood oxygen saturation measurement is poor, and hypoxemia cannot be detected in time and should be judged by the results of arterial blood gas analysis.

Intraoperative frozen pathology should have been performed according to the guidelines, but the operative time in this patient should not have been too long, and the false-negative rate of diagnosis based on the absence of ascites during the operation and the absence of papillary projections on the inner wall of the ovarian cyst, as well as mucinous ovarian tumors and junctional tumors usually have a high rate of false-negative frozen section diagnosis [ 1 , 3 , 16 ]. After communication with the patient's family, the patient refused to send the frozen pathology during the operation.

Postoperative management

Dysarthria and dysphagia occur in almost 80% of patients with medullary ALS [ 17 ]. Therefore, communication should be done by asking more questions that can be answered with yes or no. Dysphagia can lead to aspiration and malnutrition. High-calorie and high-protein oral nutritional supplements are good choices. Enteral nutrition is an appropriate intervention if the patient has lost more than 10% of his premorbid weight [ 17 ].

PBP causes weakness of the muscles of the mouth, face and tongue, which leads to impaired secretion clearance and impaired coughing, predisposes to respiratory infections, and increases morbidity and mortality. Chest CT can be performed to detect pulmonary infection and pulmonary atelectasis when the patient has symptoms such as fever, persistent cough and dyspnea. Anticholinergic drugs, botulinum toxin injections, improved overall hydration status, treatment with nebulizers, and increased environmental humidity all of which can help with secretion clearance.

ALS is a disease that strongly affects the psychiatric aspects of patients [ 8 ]. Caregivers and healthcare professionals should pay real-time attention to the psychological status of patients and provide positive emotional support. And that early postoperative activity is beneficial to patients, so it is acceptable to encourage patients to move appropriately after surgery [ 18 , 19 ].

In conclusion, postoperative dysphagia, secretion clearance, and management of respiratory function are crucial, and postoperative emotional management should not be neglected; all postoperative conditions of the patient should be closely monitored and dealt with accordingly in a timely manner.

Postoperative pathological results and follow-up treatment

Postoperative pathology reported mucinous carcinoma in some areas of the right ovary. Combining the patient's preoperative imaging, intraoperative situation and postoperative pathology findings, the patient was a stage IA ovarian mucinous carcinoma according to NCCN guidelines [ 20 ].

According to the NCCN guidelines: Patients have the option of reoperation: as patients have no fertility desire, a complete staging surgery is feasible. The procedure requires resection of the entire uterus, both adnexa, greater omentum, and appendix, with pelvic lymph node and para-aortic lymph node dissection [ 20 , 21 ]. However, anesthesiologists assess that anesthesia for the procedure is difficult and extremely risky because the level of epidural anesthesia is too high and affects the patient's respiratory function, and that lymph node metastases from ovarian mucinous carcinoma are very rare. Combined with the patient's adjuvant findings, the tumor stage is likely to remain unchanged after surgery [ 22 ]. The average survival for ALS is 3-5 years [ 17 ]. Surgery is not the best option for the patient, and surveillanc is chosen by the patient and family after deliberation.

GOCs combined with PBP is very rare. The perioperative management of patients with GOCs combined with PBP requires the combined efforts of neurologists, gynecologists, and anesthesiologists. Preoperatively, the patient's PBP progression is assessed and the anesthetic and surgical approach is felt in relation to the patient's fertility requirements, the nature of the ovarian cyst and general condition. As patients with PBP mainly present with dysarthria and dysphagia, epidural anesthesia was chosen as the mode of anesthesia. Postoperative patients should pay close attention to possible complications of ALS, especially dysphagia and active respiratory function, and timely carry out corresponding treatment. Also, positive emotional supporting is very important. Since ovarian cysts have the possibility of malignancy and simple resection of ovarian cysts or unilateral adnexal resection is feasible, prompt surgical treatment is recommended for patients with ovarian cysts combined with PBP to prevent malignancy.

Availability of data and materials

Submission of a manuscript to a BMC journal implies that materials described in the manuscript, including all relevant raw data, will be freely available to any scientist wishing to use them for non-commercial purposes, without breaching participant confidentiality. All the data of this study are presented in the article, and those who need it can use it directly, as long as the source is indicated. If you have any questions, please contact the corresponding author, e-mail: [email protected]

Abbreviations

amyotrophic lateral sclerosis

giant ovarian cysts

progressive bulbar paralysis

computerized tomography

carbohydrate antigen 125

Human epididymal secretory protein 4

Alpha-fetoprotein

carbohydrate antigen 19-9

Forced vital capacity

maximum inspiratory pressure

sniffing nasal inspiratory pressure

carbon dioxide

intra-abdominal pressure

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Dingbei Zhang and Ruibo Xu these authors contributed equally to this work and should be considered co-first authors.

Authors and Affiliations

Department of Gynecology, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China

Dingbei Zhang, Yao Sun, Xiaoyu Xi, Lili Wang & Jiexian Du

Department of Gynecology, Handan first hospital, Handan, 056000, Hebei, China

Department of Anaesthesiology, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, 300072, China

Tingting Huo

Department of Ultrasound, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China

Department of Pathology, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China

Zengfang Hao

Department of Gynecology, Traditional Chinese Medicine Hospital of Shijiazhuang, Hebei, 050000, China

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DZ and RX: collect and sort out data and write the manuscript. TH: evaluation of anesthesia-related content, and writing the manuscript of anesthesia-related content. YL: Preoperative ultrasound imaging evaluation of patients. ZH: Postoperative pathological evaluation. SY, XX, XD, LW: Participate in the formulation of the whole operation plan, operation and postoperative follow-up plan. JD: The article was finally reviewed and revised.

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Correspondence to Jiexian Du .

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Zhang, D., Xu, R., Huo, T. et al. Perioperative management of a patient with unexpectedly detected early-stage ovarian mucinous carcinoma combined with progressive bulbar paralysis: a case report and literature review. BMC Women's Health 24 , 274 (2024). https://doi.org/10.1186/s12905-024-03117-9

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• Case report
• Giant ovarian cysts (GOCs)
• Perioperative management
• Progressive bulbar paralysis (PBP)
• Multi-disciplinary treatment (MDT)

BMC Women's Health

ISSN: 1472-6874

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• Case Report
• Open access
• Published: 06 May 2024

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

• Jing Zheng 1 , 2 ,
• Meiqun Gu 1 , 2 ,
• Shasha Xiao 1 , 2 ,
• Chongzhen Li 1 , 2 ,
• Hongying Mi 1 , 2 &
• Xiaoyan Xu 1 , 2  

BMC Pediatrics volume  24 , Article number:  309 ( 2024 ) Cite this article

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Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

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Introduction

Schinzel-Giedion syndrome (SGS, OMIM 269,150) is a rare autosomal dominant genetic disorder first reported in 1978 [ 1 ]. Clinical features of SGS include distinctive facial appearance (commonly midface retraction), profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies such as congenital heart disease, hydronephrosis, delayed neurological development, and skeletal dysplasia [ 2 ]. Liu et al. proposed revised diagnostic criteria for SGS, classifying it into three types based on clinical presentation and/or pathogenic SETBP1 variant, enabling definitive diagnosis for patients with atypical clinical phenotypes via genetic testing and broadening the phenotypic spectrum [ 3 ].

Hoischen et al. confirmed that SGS is caused by variant in the SETBP1 gene. In contrast to loss-of-function (LoF) variant leading to SETBP1 haploinsufficiency disease (SETBP1-HD), characterized by hypotonia and mild motor developmental delay/intellectual disability (MIM: #616,078), known SETBP1 variants causing SGS are gain-of-function (GoF) and located within a 12 bp hotspot region encoding SETBP1 amino acid residues 868–871, which are associated with the canonical SGS phenotype. The SETBP1 aa868-871 region functions as a degron, a signal regulating protein degradation, and pathogenic variants within the degron result in SETBP1 protein accumulation. Missense variants of residues I871 and D868 have been demonstrated to be associated with the lowest and highest levels of pathogenic SETBP1 protein, respectively, indicating a significant genotype-phenotype correlation in this region [ 4 ].

In this study, we report a patient with a typical SGS clinical presentation, who was found to carry a novel de novo heterozygous SETBP1 D874V variant. The mutated residue is located near the degron region, but the patient presents with a classical clinical phenotype that could not be explained by the currently known genotype-phenotype correlations.

Materials and methods

A female neonate who was admitted to the neonatal intensive care unit of First People’s Hospital of Yunnan Province was included in this study. She exhibited dysmorphic facial features (midface retraction, frontal bossing, and low-set ears), bilateral varus, syndactyly of the 4th and 5th toe, hydronephrosis, and congenital heart disease. We conducted follow-up for her clinical condition. The patient’s parents provided written informed consent to the study.

Genetic tests

Two milliliters of the peripheral blood collected from the patient were used (anticoagulant: EDTA), and whole-exome sequencing was performed by Beijing Chigene Translational Medicine Research Center Co., Ltd (Beijing, China). Genomic DNA was extracted using the Blood Genome Column Medium Extraction Kit (Kangweishiji, China) according to the manufactural instructions. The extracted DNA samples were subjected to quality control using Qubit 2.0 fluorimeter and electrophoresis using 0.8% agarose gel for further protocol. Protein-coding exome enrichment was performed using xGen® Exome Research Panel v1.0 (IDT, Iowa, USA) that consists of 429,826 individually synthesized and quality-controlled probes, which targets 39 Mb protein-coding region (19,396 genes) of the human genome and covers 51 Mb of end-to-end tiled probe space. After target enrichment, high-throughput sequencing was performed on Illumina NovaSeq 6000 series sequencer (PE150), which was used to perform paired-end 150 bp sequencing, with a mean sequencing depth of 100X and sequencing coverage of 99%. Raw data were processed by the fastp software for adapters removing and low-quality reads filtering [ 5 ]. The paired-end reads were aligned to the Ensemble GRCh37/hg19 reference genome using the Burrows-Wheeler Aligner (BWA) software pacakage, and the GATK software was used reads calling. Detected single nucleotide polymorphisms (SNPs) and insertions and deletions (indels) not longer than 50 bp were then annotated using the ANNOVAR software. The common variants, with minor allele frequency (MAF) > 0.05, found in the 1000 Genomes Project and the ExAC and gnomAD databases were filtered out.

The primers designed for polymerase chain reaction (PCR) were as SETBP1 -F, 5′-GGGAGCAGAAATCAAAAGAGTACC-3′ and SETBP1 -R, 5′-CCAAAACCCAAAAGGGAATACACA-3′. Sanger sequencing was performed using the ABI 2720 DNA analyzer (USA). The NCBI BLAST algorithm was used for sequence alignment.

Pathogenicity analysis of genetic variants

Computer software, including REVEL, SIFT, Polyphen2-HVAR, Polyphen2-HDIV, PROVEAN, and MutationTaster, were used to predict the deleterious effects of each variant on the protein function. Exomiser and Phenolyzer software were used to perform genotype-phenotype analysis. Homology modeling was performed using the Modeller software ( https://salilab.org/modeller/ ) to analyze changes in the three-dimensional structure, and evolutionarily conserved regions were analyzed using UGENE software ( http://ugene.unipro.ru/ ). Finally, the pathogenicity assessment and genetic interpretation of candidate gene variants were performed according to the American College of Medical Genetics and Genomics guidelines and criteria [ 5 ] for variant classification.

Review of the literature

Variants and clinical features of previously reported cases with genetically diagnosed with SGS were collected. Data on these patients were retrieved from PubMed ( http://www.ncbi.nlm.nih.gov/pubmed ) using the search terms “Schinzel–Giedion syndrome” or “SGS” and “ SETBP1 ” Only articles in English were included.

Case presentation

The patient was admitted to the hospital with " high-risk delivery”, G1P1, born by cesarean section at a gestational age of 40 + 4 weeks, with a birth weight of 3430 g and an Apgar score of 9-9-9. Her parents were healthy, not consanguineous, and had no family history of specific diseases. The examination during pregnancy revealed that the mother suffered form gallbladder polyps and hypothyroidism.The fetus displayed severe hydronephrosis, pericardial effusion, and cauda equina cysts. Her physical examination upon admission showed stable vital signs, and stable breathing. Unique facial features included midface retraction, frontal bossing, and low-set ears (Fig. 1 A). The anterior fontanelle was flat and soft, the size is 3.0 cm*3.0 cm. There wasn’t flaring of nares, nor perioral and fingertip cyanosis. The pulmonary examination showed no abnormalities, heart rate was 125 beats/min, heart rhythm was regular, and class II/6 systolic murmur could be heard in the precordial region. The abdomen was significantly enlarged (Fig.  1 B), with an abdominal circumference of 38 cm, 2–3 bowel sounds/min, increased muscle tone of the limbs, limited abduction of both upper and lower limbs, bilateral varus, syndactyly of the 4th and 5th toe and vulvar malformation (dysplasia of the labia majora). During hospitalization, the patient had normal lab results for full biochemistry profile, routine blood, urine, and stool examinations, and thyroid function tests. In addition, tandem mass spectrometry screening of blood and urine samples showed normal results. Chest radiographs revealed broad bones (Fig.  2 A). Color Doppler echocardiography showed atrial septal defect, patent ductus arteriosus, right atrial and right ventricular enlargement. Moreover, color Doppler ultrasonography of the urinary system detected bilateral severe hydronephrosis (Fig.  2 D, E). Abdominal CT showed a significant increase in the size of both kidneys and signs of severe hydronephrosis in both kidneys (Fig.  2 F). Cranial color Doppler ultrasonography showed grade II-IVH on the left side and moderate enlargement of bilateral lateral cerebral ventricles (Fig.  2 B, C). Video electroencephalogram (EEG) showed normal results. No ocular fundus abnormalities were observed. Moreover, both ears did not respond to the rapid auditory brainstem response test. Due to the deformities of the heart, kidney, bone and other organs of the child, congenital genetic metabolic diseases could not be excluded. After obtaining the consent of the family members, the Whole-Exome Sequencing was improved. The child was treated with nasal catheter oxygen and anti-infection during the hospitalization. The child had difficulty in early feeding(weak sucking reflex) and could be fully fed orally before discharge, but the sucking power was also poor. Her parents abandoned treatment and was discharged from the hospital 13 days after birth. 8 months after birth, in the outpatient follow-up, the child presented with delayed gross motor development and no seizures, and the patient’s family members refused to perform a cranial MRI.

Phenotypic variants of the patient. ( A ) Characteristic midface retraction, frontal bossing, and low-set ears at 1 day after birth; ( B ) A grossly distended abdomen

Photographs show the clinical features of the patient in this study. ( A ) Chest radiographs at 1 day after birth show wide ribsn ( B, C ) Color doppler ultrasonography at 10 days after birth shows widened bodies and anterior horns of lateral ventricles; ( D, E ) Color doppler ultrasonography at 10 days after birth shows severe hydronephrosis was found in both kidneys, bilateral pelvis and calyces were severely dilated with a “palette” appearancete ( F ) Abdominal CT at 1 day after birth shows Significant increase in the size of both kidneys, signs of severe hydronephrosis in both kidneys

Result of genetic tests

Whole-exome sequencing suggested a heterozygous variant (c.2621 A > T, p.Asp874Val) in exon 4 of SETBP1 (NM_015559). This variant was a missense variant. The detected variant was not found in many databases including the 1,000 Genomes Project, ExAC gnomAD and dbSNP databases.

Analysis of the pathogenicity of gene variant

Sanger sequencing of the genome of the patient and her parents suggested that the patient had a de novo variant; As both parents had the wild-type gene (Fig.  3 ). Some silico predictions, including REVEL, SIFT, Polyphen2-HVAR, Polyphen2-HDIV, PROVEAN, and MutationTaster, suggested the deleterious effects of this variant on protein function. There has been no previous report of such variants. This variant was classified as likely pathogenic according to American College of Medical Genetics and Genomics guidelines (the supporting evidence for likely pathogenicity was PS2 + PM1 + PM2_Supporting + PP3).

Sanger sequencing confirms de novo c.2621 A > T variant(p.Asp874Val) in the SETBP1 gene in the patient

Protein-DNA/RNA docking using HDOCK server( http://hdock.phys.hust.edu.cn/ ) (hybrid algorithm of template-based modeling and ab initio free docking) is shown in Fig.  4 A. Green represents SETBP1 protein and sky blue represents E3 ubiquitin ligase, which promotes ubiquitination and degradation of SETBP1 protein. When mutated, SETBP1 protein fails to bind to E3 ubiquitin ligase, leading to protein overexpression. As shown in Fig.  4 A: S876, D868, S869, G870, I871, G872, T873 and D874 of SETBP1 form interactions with L48, K50, G101, C103, R105, P158 and N159 of E3 ubiquitin ligase, which in turn promote SETBP1 binding to E3 ubiquitin ligase and thus ubiquitination occurs. The hotspot variants D868, S869, G870 and I871 of the SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant(p.Asp874Val) reported in this paper is also in the vicinity of the SETBP1 gene binding E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease.Alignment of the SETBP1 sequences revealed that the amino acid residues at position 874 were strictly conserved (Fig. 4 B).

In-silico analysis of SETBP1 c.2621 A > T/p.Asp874Val variant. ( A ) Protein-DNA/RNA docking using HDOCK server ( http://hdock.phys.hust.edu.cn/ ) (hybrid algorithm of template-based modeling and ab initio free docking). As shown in Fig.  4 A: Green represents SETBP1 protein and sky blue represents E3 ubiquitin ligase. S876, D868, S869, G870, I871, G872, T873 and D874 of SETBP1 form interactions with L48, K50, G101, C103, R105, P158 and N159 of E3 ubiquitin ligase, which in turn promote SETBP1 binding to E3 ubiquitin ligase and thus ubiquitination occurs. The hotspot variants D868, S869, G870 and I871 of SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant reported in this paper is also in the vicinity of the SETBP1 gene binding E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease. ( B ) Alignment of the SETBP1 sequences revealed that the amino acid residues at position 874 were strictly conserved

The aforementioned data, the patient’s clinical manifestations, and the SETBP1 variant status indicated that SGS was caused by a heterozygous variant (c.2621 A > T, p.Asp874Val) in SETBP1 .

We evaluated a total of 20 articles and 60 patients. All data were curated in Table  1 .

Discussions

Liu et al. have updated the diagnostic criteria for Schinzel-Giedion (SGS). The revised criteria now classify SGS into three distinct types based on clinical observations and the presence of the SETBP1 variant [ 3 ]. SGS type I, also known as the classic type, is characterized by the hallmark clinical features, including developmental delays and distinctive facial morphology such as a prominent forehead, midface retraction, and low-set ears, as well as the presence of hydronephrosis or two of the four characteristic skeletal anomalies, including a sclerotic skull base, wide occipital synchondrosis, increased cortical density or thickness, and broad ribs. This classification aligns with the previously proposed diagnostic criteria by Lehman and colleagues. Type II refers to as an intermediate phenotype of SGS, is diagnosed in patients with development delays and the distinctive facial features, but without the presence of hydronephrosis or typical skeletal abnormalities, with the presence of the SETBP1 variant. Type III, also known as the simple type, is diagnosed in patients with the SETBP1 variant and developmental delays, with expressive language delay being the most prominent feature. These revised criteria will aid in the accurate diagnosis and management of SGS.

As far as we know, all reported cases of classical SGS meeting the diagnostic criteria proposed by Lehman and colleagues have exhibited missense variants within a 12-basepair hotspot located in exon 4 of the SETBP1 gene (Table  1 ) [ 4 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. This hotspot, which encodes four amino acid residues (D868, S869, G870, and I871), known as the degron, is located within the SKI homologous region of the SETBP1 protein and is a critical site for substrate recognition by the cognate SCF-β-TrCP E3 ubiquitin ligase [ 4 , 12 ]. Variants within the degron prevent the binding of SETBP1 protein to E3 ubiquitin ligase, leading to protein overexpression [ 24 , 25 ]. Patients with missense variants in residues 862, 867, and 873 near the hotspot region exhibit a milder SGS phenotype, and the proximity of the mutated position to the degron is associated with clinical overlap with the classic SGS phenotype [ 4 , 7 ]. Notably, D874V found in this study is adjacent to the degron, which is inconsistent with the previous knowledge.

To date, 63 cases of genetically confirmed SGS have been reported, including 16 missense variants and 1 insertion variant (Table  1 ). SETBP1 D874V reported in this paper is a novel variant and the first report of SETBP1 non-hotspot variant identified in a canonical SGS case. Being highly conserved in different species, D874 might have an important biological role. In addition, protein model analysis of the variant suggests that the hotspot variants D868, S869, G870 and I871 of the SETBP1 gene significantly affect the binding of SETBP1 to E3 ubiquitin ligase, thereby affecting ubiquitination. The D874V variant reported in this paper is located in proximity of the bliding site for E3 ubiquitin ligase, which may also affect the binding of SETBP1 protein to E3 ubiquitin ligase and thus affect SETBP1 protein ubiquitination, ultimately leading to the development of the disease.

Diagnosing SGS in the neonatal period can be challenging due to the presence of non-specific symptoms, including genital abnormalities, reduced sucking ability, decreased muscle tone, and EEG waveform abnormalities, in addition to the typical clinical manifestations of SGS [ 12 ]. In a 2022 case report by Yang et al. [ 10 ], a neonatal patient with midface retraction and developmental delay was diagnosed with “non-classical” SGS based on the absence of hydronephrosis and skeletal abnormalities at birth, and the presence of a SETBP1 gene variant, S869G, according to the Lehman diagnostic criteria. However, after 18 months of follow-up, bilateral hydronephrosis was detected by color Doppler ultrasonography, leading to a revised diagnosis of classical SGS. The authors emphasize the importance of long-term follow-up to observe the evolution of phenotypes diagnosed by early molecular testing, as phenotypic changes are common, particularly in infants. Out of 56 patients with SGS exhibiting variants in the degron sequence (hotspot variants sequence), five did not have hydronephrosis. According to Yang et al.‘s case report, progressive hydronephrosis may occur in long-term survivors, albeit at a slower development rate. However, the patient reported in this study developed severe hydronephrosis in the neonatal period, underscoring the need for close monitoring of renal function during later follow-up.

The SETBP1 protein is expressed throughout the body, but its levels are highest during brain development before birth, when nerve cells undergo proliferation and migration to specific regions of the brain. Variants in the SETBP1 gene can result in severe neurological developmental abnormalities, given its critical role in this process. A study by Banfi F et al. revealed that SETBP1 variants lead to the accumulation of the SETBP1 and SET proteins and the consequent P53 inhibition in neural cells. These molecular changes promote the onset of cancer-like behavior in neural progenitors that accumulate widespread DNA damage without programmed cell death engagement [ 26 ]. Neurodevelopmental delay is a hallmark characteristic of SGS, with asphyxia, feeding difficulties, and recurrent apnea being common symptoms in the neonatal period [ 11 ]. A stud y by Wong MM et a l illustrated that the variants that carrying SETBP1 missense variants outside the degron, cause a clinically and functionally variable developmental syndrome, showing only partial overlaps with classical SGS and SETBP1-HD, and primarily characterised by intellectual disability, epilepsy, speech and motor impairment [ 27 ]. The incidence of developmental delay, epilepsy, and expressive language delay is extremely high with increasing age, with 97% (56/58) of reported cases of children with SGS presenting with neurological developmental abnormalities, including developmental delay and seizures. In this study, cranial color Doppler ultrasonography showed moderate enlargement of bilateral lateral cerebral ventricles and a normal EEG waveform during the neonatal period. However, the patient’s family members did not approve of performing a cranial MRI. Currently, at 8 months of age, the patient exhibits retardation of gross motor development but has not experienced epileptic seizures. Long-term follow-up visits are required to monitor the patient’s progress. These findings highlight the importance of early diagnosis and appropriate imaging studies in the management of SGS, particularly in patients with a suspected neurological developmental abnormality.

In summary, this study reports the first case of canonical SGS in a Chinese neonate caused by a novel SETBP1 non-degron region variant, D874V. This finding expands the genetic spectrum of SGS and provides a new case for investigating genotype-phenotype correlations in SGS.

Data availability

The datasets presented in this article are not readily available because of privacy restrictions (the guardians of patients are reluctant to authorize the release of all the raw data of whole-exome sequencing, but agree to contribute positive sanger-sequencing results). Requests to access the datasets should be directed to the corresponding author.

Abbreviations

• Schinzel-Giedion syndrome

Gain-of-function

Loss-of-function

Electroencephalogram

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Acknowledgements

We would like to thank the patient and their family for their participation in this study. We sincerely thank the Beijing Chgene Translational Medicine Research Center, the Beijing Kangxu Medical Inspection Institute and the Wuhan Kindstar Medical Inspection Institute provide us with essential help for genetic testing.

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ZJ, GM, and XS conceptualized and designed the study, collected data, carried out the analyses, drafted the initial manuscript, and reviewed and revised the manuscript. LC provides color ultrasound examinations for children. MH and XX conceptualized and designed the study, and critically reviewed the manuscript. All authors reviewed and approved the final version.

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Correspondence to Xiaoyan Xu .

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Zheng, J., Gu, M., Xiao, S. et al. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature. BMC Pediatr 24 , 309 (2024). https://doi.org/10.1186/s12887-024-04779-y

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DOI : https://doi.org/10.1186/s12887-024-04779-y

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