a case study of down syndrome

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android . Learn more here!

• Remote Access
• Save figures into PowerPoint
• Download tables as PDFs

CHAPTER 21:  Case Study: Down Syndrome

Alyssa LaForme Fiss, PT, PhD, PCS; Susan K. Effgen, PT, PhD, FAPTA

• Download Chapter PDF

Disclaimer: These citations have been automatically generated based on the information we have and it may not be 100% accurate. Please consult the latest official manual style if you have any questions regarding the format accuracy.

Download citation file:

• Search Book

Jump to a Section

Introduction, examination: age 3 years.

• Evaluation, Diagnosis, and Prognosis Including Plan of Care
• Intervention
• Procedural Interventions
• Termination of Episode of Care
• Examination: Age 16 Years
• Systems Review
• DISCUSSION QUESTIONS
• Recommended Readings
• Full Chapter
• Supplementary Content

This case study focuses on the ongoing physical therapy management of Carrie, a child with Down syndrome. Carrie has received physical therapy services from the age of 4 weeks to the present. For individuals with Down syndrome, episodes of physical therapy services may be necessary across the life span to address changing issues as growth occurs and as the child gains increasing independence in various environments. Functional demands change as the individual moves from infancy, through the school years, and into adulthood.

Individuals with Down syndrome commonly present with impairments in strength ( Stemmons-Mercer & Lewis, 2001 ), range of motion (ROM) ( Zausmer & Shea, 1984 ), tone ( Shea, 1991 ), balance and coordination ( Connolly & Michael, 1986 ; Lauteslanger, Vermeer, & Helders, 1998 ), and sensory processing ( Uyanik, Bumin, & Kayihan, 2003 ) leading to delays in acquisition of motor skills and to functional limitations. Associated impairments, such as mental retardation ( Hayes & Batshaw, 1993 ; Henderson, Morris, & Ray, 1981 ), cardiovascular pathology ( Freeman et al., 1998 ), and frequent middle ear infections, may also have a negative impact on motor skill acquisition and activities.

The impairments of body structure and function and limitations in activities and participation presented by Carrie led the health-care team to consider the physical therapy management options described in Preferred Practice Patterns 5B: Impaired Neuromotor Development and 4C: Impaired Muscle Performance as outlined in the American Physical Therapy Association (APTA)'s Guide to physical therapist practice ( APTA, 2001 ). Ultimately, Pattern 5B: Impaired Neuromotor Development was selected because of Carrie's delayed motor skill development, impaired cognition, and sensory integration impairments. This case study will focus on episodes of care at 3 years and 16 years of age, with a brief review of Carrie's transition into adulthood. Physical therapy services at ages 3 and 16 were provided by therapists working in educational settings in accordance with the federal legislation Individuals with Disabilities Education Act (IDEA) (2004) .

At Carrie's birth in the late 1970s, doctors were suspicious of a potential diagnosis of Down syndrome. She presented with soft signs, including slanted eyes, poor sucking reflex, and hypotonia ( Fig. 21.1 ). When Carrie was 2 days old, she was transferred from her local rural hospital to a major urban hospital for genetic testing. At this time, a diagnosis of Down syndrome was confirmed. Her parents, Tim and Peggy, were both 35 years old and had three other children: Wendy, 12 years; Jamie, 9 years; and Thea, 4 years. Tim and Peggy's initial reactions were love for Carrie, fear of the unknown, and uncertainty of their capabilities as parents of a child with special needs. However, they were determined to help Carrie in every way they could.

Figure 21.1

Carrie at birth.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.

Please Wait

• Call +1-801-622-5676

Build a brighter future with our music-based therapy

Professional

Offer proven neuroscience-based music listening therapy in your practice

Case Study of 17-year-old with Down syndrome

SC is a 17-year-old with Down syndrome. In addition, she has been diagnosed with sensory processing disorder, social anxiety disorder, psychosis, developmental regression and more. The Listening Program® was combined with vision therapy to help her overcome her developmental deficits.

After just a few months using The Listening Program, her therapist noticed “a more grounded and stable sensory integration and processing ability.” Her psychologist noted “improved nonverbal Rand verbal communications… decreased aggression… drastic improvement in clarity of thinking.

Date: October 2017 Provider: Dr. Roger Dowis, OD FCOVD   Boulder, CO Client: SC, Female, 17 years old Clinical Diagnosis: Down syndrome, Sensory Processing Disorder, Social Anxiety Disorder, Unspecified Psychosis, Developmental Regression, Mixed receptive-expressive Language Disorder, Expressive Language Disorder, Lack of Coordination

Download in PDF format

The Jeyes and Newton (2010) study with the Down syndrome population addressed benefits of using the use of The Listening Program® to achieve improvements in auditory processing and speech and language skills since children with Down syndrome are known to have auditory processing and language development difficulty (Jeyes and Newton, 2010).

The purpose of this case study is to describe the use of combining The Listening Program and vision therapy as an intervention for, or as a means of addressing the needs of SC, a teenager with Down syndrome, to overcome her sensory integration and processing deficits and social anxiety disorder.

SC was born with Down syndrome and congenital ASD/VSD heart defects, which were repaired at three months of age. SC later developed a heart block and required a pacemaker implant. SC has had four sets of ear tubes due to continual ear infections early on in her life. Due to sleep apnea, SC had her tonsils and adenoids removed.

Due to SC’s Social Anxiety Disorder, SC would not generate an appropriate communication voice volume and needed much more time to warm up with people. The discharge note from 06/09/2015 TCH Speech and Language Therapy gives an insight into SC’s Social Anxiety Disorder: SC “has participated in nine sessions of short term, individual speech-language therapy. During the first six weeks, SC’s spoken language was minimal. She appeared highly anxious (i.e., keeping her head down, looking away from the therapist, disengaging in tasks) and spoke very little. When she did speak, her spoken output was very quiet and less than 40% intelligible to therapist in known context. During our 6th session of therapy, SC began to independently speak using full sentences. In addition, she did an excellent job increasing her voice volume when a visual “voice chart” reference was implemented.

Ongoing concerns remain regarding SC’s ability to maintain a successful mode of communication in new environments and when engaged with unfamiliar communication partners. Because of this, SC’s mother has been strongly encouraged to continue to explore use of the TouchChat or other ACC devices. SC was referred to a center where she could have longer term speech, occupational and physical therapy.

One of the congenital effects of Down syndrome is the musculoskeletal low or weak muscle tone, hypotonia, accompanied by ligaments that are too loose, ligament laxity (Down syndrome: Musculoskeletal Effects-OrthoInfo – AAOS, n. d.). Since hypotonia and ligament laxity is common in Down syndrome, we should also pay attention to needed exercises to strengthen the muscles in the eye to assure visual input accuracy. In the case of SC, mom had strabismus which was corrected at a young age.

In the 2014 article Visual Status of Children with Down syndrome, Robert H. Duckman, OD. MA, of the College of Optometry of the State University of New York, indicates that some of the Visual Signs of Down syndrome are strabismus and cataracts, etc.

Behavioral History

At about three years of age, SC started hitting her peers at school. SC’s cognitive teacher, a well-regarded professional from the community, would indicate that SC was exhibiting sensory integration issues, which was disregarded by the school psychologist. SC would be placed away, while being included, from the peer group in school.

At a later point, a behavioral expert SC’s parents consulted with indicated that at three years old, there is an increase in academic demands; therefore, at that point SC, with her sensory integration and processing deficits, and her tactile defensiveness, etc., should have been placed in a one-to-four or two-to-six classroom placement.

The behavioral hitting continued in SC’s schooling experiences. SC’s tactile defensiveness would increase as her anxiety would increase, and SC’s hitting would be harder, as the school year would progress. The mother took SC to the Boulder Community Hospital where the mother was informed that SC had sensory integration issues by the OT. Also, the parents took SC to the Star Center where the parents were informed that SC had Sensory Processing Disorder, a diagnosis which is yet to be recognized by the DSM. SC’s parents decided to home school SC.

SC went for a short period of time to high school. This was the first time that SC was in a contained classroom, instead of being included. SC would appear to be very frustrated after school, and would at times do self-harming and other mal-adaptive behaviors like: hitting her forehead against the wood floor, slamming doors, tossing dining room chairs, hitting herself on the face until bleeding, etc. SC’s parents decided to home school SC once again.

In November 2015, SC was formally diagnosed with Unspecified Psychosis and Developmental Regression. SC qualified for the Children’s Extended Services (CES) waiver. From that point on, mom was primarily working, with the help of support from the CES waiver, on: getting SC’s speech back after her self-advocacy had regressed (as if she felt silenced and could no longer advocate for herself); keep SC busy so that she doesn’t drift into her own world; challenge SC’s fears; get SC back to her morning, pre-bed time, and night-time routines with accommodations, and modifications (not her normal way); etc.

By the summer of 2016, SC was doing much better with her fears: sleeping in her room upstairs, with mom sleeping in the trundle bed; mom did not have to be within her eyesight all the time like before; decline in panic attacks, no longer having the extreme panic attacks she used to have; and working well with the respite provider.

During the summer of 2016, with much reservation from mom, SC went to summer camp with prevention/handling strategies to deal with mal-adaptive behaviors while in Camp. For precaution purposes, due to her history of aggression towards young children, mom proposed the protocol of including SC in camp with the older campers, and avoiding exposure to young children as much as possible. A few incidents happened at camp, but the overall experience was positive.

In July 2016, SC went to Orlando with her mom and older sister to the 2016 National Down syndrome Congress Convention. Her mother still was apprehensive, not knowing how SC would behave.

During the conference, mom learned from a speaker at the conference, a psychologist from Barcelona, that it is very important to work on one’s self-concept and the identity from very early in life. Flórez et al. (2015) indicate that crises of identity in adolescence are frequent and that can lead to psychotic outbreaks or decompensation followed by loss of contact with reality; this is why it is so important to work on the identity from a young age. In the adult world, the identity is tightly linked to responsibility, to greater autonomy, and making decisions (each one according with their possibilities). The role of labor is important as well, as entering the labor world means entering in the adult world (Montobbio, 1995).

Again, a few incidents happened during that Orlando trip, even with all the precautions that were in place, but the overall experience was positive.

Prior treatment, since early intervention, consisted of speech therapy, occupational therapy, physical therapy, music therapy, tutoring interventions, some vision therapy, etc. which did not appear to impact SC’s need for overcoming her sensory integration and processing deficits and her need to overcome her social anxiety disorder.

SC has been receiving psychological help for her social anxiety disorder from the SIE Center for Down syndrome at The Children’s Hospital. SC would have problems and react, her fear response, mostly in a fight mode, versus a flight mode, to her fight or fight triggers such as:

• When SC feels that someone is staring at her fixedly with a neutral face or not smiling (SC calls this a “mean mad face”)
• When someone doesn’t want to play with her or when SC is trying to connect/communicate with the other child or when SC is feeling jealous when the other child is giving the attention to another child and not to her.
• Coming from behind, without warning. For example, children approaching in a group from behind after recess.
• You have to verbally ask for permission before kissing or hugging her. You have to ask for permission before doing anything that touches some part of her body, by example, brushing her hair, brushing her teeth, etc.

Other triggers are found:

• Children (boys rough play) hitting and yelling to each other
• Yelling and staring at her
• When SC feels that the work is hard when she is tired, or has not been introduced several times to the task. Note that she has lost the love for learning since the last elementary public school she was in.
• When she doesn’t want to work (e.g. academic work) or wants to leave classes (e.g. music and art classes at school). Note that the classes might be boring or not interesting to her.
• When going from a lighted area into a shaded area has been found to be another trigger (e.g. In the Museum of Natural History in a setting where they had the children going into a cave-like situation; e.g. when going hiking when entering the wooded area where there is more shadows.) – Note that for this trigger, SC reacts in a flight mode.

SC’s social anxiety disorder, not able to verbalize, needing to overcome her sensory integration and processing deficits and visual impediments (not reading visual information properly) caused SC to misread many visual cues, and resort to maladaptive behaviors.

After her unspecified psychosis manifested itself as SC being afraid of monsters following her, and attacking her from behind; having terrible panic attacks where SC would run frantically from one side of the house to the other, from upstairs to downstairs, looking for her mom for protection; and after losing a front tooth from tripping after a panic attack, SC’s parents had no choice but to consult with a psychiatrist and start SC on psychosis medication. Together with medication, there was a need to work with the psychologist to help SC conquer her fears, such as getting into the shower, going upstairs in the house (where her bedroom happens to be), falling asleep, etc. Slow, incremental exposures to her fears were done with big rewards after satisfactory completion of the given exposures.

Since SC’s psychosis and regression were diagnosed, SC’s family started getting more help thanks to the Children Extensive Services waiver, which covered behavioral help from The Brain Center. The Brain Center, among other parts in the treatment, used The Listening Program® (TLP) Spectrum and Brain Builder® products from Advanced Brain Technologies. SC’s vision therapy sessions were also covered by the CES waiver.

The Brain Center Executive Director facilitated having mom’s training and the TLP SPECTRUM being covered by the CES Waiver. Therefore, mom became a TLP provider.

SC began the sound stimulation program TLP Spectrum with the WAVES bone-conduction headphones at home almost concurrently to starting her vision therapy program. SC started with TLP at home, listening to only one module daily for a while. Mom re-started the TLP program completely, on 09/18/2016, since mom did not know which the last module SC listened at The Brain Center was. SC is now in TLP’s Condensed Schedule Cycle 4. Mom is planning to continue using The Listening Program indefinitely.

SC’s ability to acquire visual information accurately was evaluated on 08/22/2016 by Dr. Jen Simonson, OD, FCOVD. Clear eyesight, focusing ability, eye alignment, and tracking skills are all important to acquire visual information and are called “acquisition skills”. These skills require the efficient use of our eye muscles (six extra-ocular muscles surround each eye to control eye movement, two muscles regulate the amount of light entering the eye, and one muscle adjusts the focusing lens inside the eye). Proper coordination of these skills is necessary to see something clearly, easily, accurately, and as a single image. SC’s abilities in these areas were:

VISUAL ACUITY (clarity of eyesight) Distance visual acuity was 20/30, reduced in ability. Near visual acuity was 20/20, adequate.

FOCUSING ABILITY The eyes must use a different set of abilities to focus on objects nearby than they use to see clearly at a distance. A muscle inside the eye (ciliary body muscle) must constrict so that the lens inside the eye bends the appropriate amount. If this focus cannot be maintained for any length of time, words will become blurry, loss of place may occur, and visual discomfort may be noticed. The ability to maintain focus for near work, the ability to relax focus to see clearly at distance, and the ability to change focus easily from far to near were all reduced.

BINOCULAR STATUS (eye teaming ability) The human visual system is designed so that the two eyes work as a team. The accuracy of clear, single vision and the presence of depth perception depend on a person having these skills. If the information from the two eyes does not match, the brain may ignore the information coming into one eye (suppression), or experience double vision. Depth perception, although present, was considerably reduced when compared to expected norms. Suppression and instability of the left eye were present. Eye alignment testing showed exotropia – a type of strabismus (eye turn) where one eye turns outward toward the ear. Convergence, the ability to turn the eyes inward the appropriate amount, was also reduced.

EYE MOVEMENT ABILITY (eye tracking skills) To accurately and quickly obtain information with the least amount of effort, the eyes must be able to scan with speed and control. When these eye movements are slow, clumsy, or uncoordinated, the amount of information obtained will be reduced. The types of tracking skills evaluated were: FIXATIONS – the ability to keep the eyes steady on a target; PURSUITS – slow smooth eye movements used when following an object like an airplane across the sky or following the ball in sports; SACCADES – the eye movements used while reading. They require small voluntary jumps from word to word easily without making extra eye movements. Each of these tracking skills were reduced in ability.

A program of vision therapy was recommended, which included weekly office sessions, and home exercises to be performed daily. On 09/01/2016 was SC’s first vision therapy session. Starting on 09/18/2016, with TLP at home, and vision therapy, we were combining the two strongest senses, hearing and vision, which give input to our bodies from our outside world, developing and enhancing them simultaneously.

Summary of Changes

After starting The Listening Program and vision therapy, in September 2016, by the November 2016 to December 2016 timeframe, SC exhibited a more grounded and stable sensory integration and processing ability. She was able to brush her hair twice daily (in her morning and nighttime routines), expressed less tactile defensiveness, and showed a decline in maladaptive behaviors like hitting. Mom started noticing an increase in verbalization and personal confidence, and a decline in social anxiety. For example, when ordering food at a restaurant before, with much anxiety, SC could only point to the items she wanted, whereas now she can order each item she wants with confidence, with the right tone of voice and much more understandable. Now mom is more concerned with issues around SC’s psychosis, her period (affecting her psychosis), her regression, other medical issues, side effects of the psychosis medication like weight gain, her willingness to be present, and her fear of falling asleep among others.

Nevertheless, for precaution purposes due to her history of behavior, mom will continue with the protocol of including SC in adult or senior classes, and avoiding exposure to young children as much as possible.

Other examples of changes observed are:

• At the therapy center where SC receives her therapy, instead of hitting a little boy when she was upset, she instead would tell the Speech Therapist that she is sad that the boy doesn’t want to play with her.
• At Boulder Valley vision therapy, Thursday 12/08/2016, SC read at the 3rd grade level and answered the reading comprehension questions with 80% accuracy. The therapist used the neurological impress method.
• On Thursday 12/29/2016, SC earned some headbands at vision therapy, and she has been using them in her own hair ever since. This could be an indication of how much sensory integration improvement she has made, and how much her “fight or flight” system has tapered down. SC can now brush her hair twice a day, as part of her daily morning and nighttime routines, and wear headbands and ponytails the whole day, without any problems.

SC’s psychologist commented on 04/20/2017, concerning SC’s social anxiety disorder issues, and other behavioral issues, that SC was showing “Improved nonverbal and verbal communications when in social settings; increased volume when talking and better eye contact; decreased aggression towards herself and objects; decreased refusal to complete activities of daily living; more independent with daily living skills (requiring less prompting); drastic improvement in clarity of thinking;  much better able to answer questions when asked; content of response also matches content of question better; decrease in processing time, can answer questions much more quickly when asked; more motivated to participate in group activities.”

As a result, her psychologist sessions were reduced from weekly to bi-weekly sessions.

Summary of Pre- and Post-Test Scores

The changes seen on SC in this case study are similar to the changes seen by Jeyes and Newton (2010) in their study where, after using The Listening Program with Sennheiser Headphones for two 15-min sessions, five days a week, over a ten-week period, children with Down syndrome exhibited clearer speech, more extensive vocabulary, and they were using greater number of words more effectively sequenced. This was coupled with a greater attention span, improved communication with peers and others, and overall reduced frustration felt by all parties (Jeyes and Newton, 2010).

Furthermore, after combining TLP with vision therapy in September 2016, only a few months later SC exhibited more grounded and stable sensory integration and processing. She could brush her hair twice daily and exhibited less tactile defensiveness and maladaptive behaviors. Mom started noticing an increase in verbalization and personal confidence and a decline in social anxiety in public situations. Also, see SC’s psychologist comments of 04/20/2017.

From previous clinical experience, it has been observed that combining vision therapy with The Listening Program enhances and speeds up the therapy program. As seen in the results displayed on the appended graph, SC’s visual acquisition skills have improved greatly. To see this amount of improvement in a six-month period demonstrates the power of a combined visual and music listening therapy program.

Follow-up Recommendations

SC will continue with The Listening Program Spectrum with the Waves multi-sensory bone-conduction headphones at home, combined with vision therapy.

Mom agrees with the recommendations from Jeyes and Newton (2010), and would like to point some of them, like:

• The fact that more appropriate tests need to be developed for children with Down syndrome for pre- and post-study testing
• More extensive and larger formal study is recommended to confirm the findings of the 2010 study
• Video evidence would be a useful addition

Down syndrome: Musculoskeletal Effects-OrthoInfo – AAOS. (n. d.). Web Site Citation. Retrieved April 21, 2017 from http://orthoinfo.aaos.org/topic.cfm?topic=A00045

Duckman, R. H. (2014). Visual Status of Children with Down syndrome. Optometry & Visual Performance 2(5) 240-243.

Flórez, J., Garvía, B. y Fernández-Olaria, R. (2015). Síndrome de Down: Neuropsicología, Neurobiología, Salud Mental . Madrid: Ed. CEPE, S.L.

Montobbio, E. (1995). La identidad difícil . Barcelona: Fundación Catalana Síndrome de Down.

Jeyes, G. and Newton, C. (2010). Evaluation of The Listening Program in Assessing Auditory Processing and Speech Skills in Children With Down syndrome. Music and Medicine 2(4) 208-213. New York: SAGE Publications.

Tags case study , Developmental Regression , down syndrome , Expressive Language Disorder , Psychosis , sensory processing disorder , Social Anxiety Disorder

You Might also like

Supporting Recovery from a Fall with The Listening Program®

November 02, 2023 by Advanced Brain

Maintaining one’s health and well-being requires more attention and yet, often gets neglected. Being able to enjoy a healthy and productive lifestyle in my later years is…

Breaking Barriers: Overcoming Learning and Developmental Challenges with The Listening Program®

June 25, 2023 by Advanced Brain

Discover the life-changing benefits of The Listening Program in this heartwarming blog post. Follow the 10-year journey of one family as they overcome developmental delays and achieve…

Resonating Resilience: Stimulating the Vagus Nerve with The Listening Program®

In the realm of wellness, the vagus nerve orchestrates our body's mental, emotional, and physical health. Find your inner balance, vitality, and harmony for a life of…

We use cookies to provide the services and features offered on our website, and to improve our user experience. Learn more

• - Google Chrome

Intended for healthcare professionals

• Access provided by Google Indexer
• My email alerts
• BMA member login
• Username * Password * Forgot your log in details? Need to activate BMA Member Log In Log in via OpenAthens Log in via your institution

Search form

• Advanced search
• Search responses
• Search blogs
• Managing the care of...

Managing the care of adults with Down’s syndrome

• Related content
• Peer review
• Kristin M Jensen , assistant professor 1 ,
• Peter D Bulova , associate professor 2
• 1 Departments of Pediatrics and Internal Medicine, University of Colorado School of Medicine, Aurora, CO 80045, USA
• 2 Department of Internal Medicine, University of Pittsburgh Medical Center, UPMC Montefiore Hospital, Pittsburgh, PA, USA
• Correspondence to: kristin.jensen{at}ucdenver.edu

Summary points

People with Down’s syndrome have experienced a dramatic increase in life expectancy, which is now in their mid-50s

The approach to primary care for adults with Down’s syndrome is similar to that for the general adult population, with the addition of screening for conditions specific to Down’s syndrome

Practitioners must be vigilant for conditions that are more common in Down’s syndrome than in the general population, such as hypothyroidism, obstructive sleep apnea, and osteoporosis

Adults with Down’s syndrome have a lower risk of hypertension, coronary artery disease, and solid tumors than the general population

People with Down’s syndrome have an increased risk of Alzheimer’s dementia, but not all adults experience this; the onset of dementia is not typically seen before age 40. By age 60, 40-77% of adults will have Alzheimer’s dementia

Respiratory infection is the leading cause of death in adults with Down’s syndrome

Sources and selection criteria

We based this narrative review on articles found by searching PubMed and the Cochrane Database of Systematic Reviews. We then applied snowball techniques to sources for the articles identified from both databases. Search terms first included “Down syndrome”, “preventive health care”, “epidemiology”, and “adults with Down syndrome”. We then searched specifically for articles dealing with comorbidities identified within that search. To date, few randomized controlled trials have involved adults with Down’s syndrome, and many studies that do exist used small sample sizes. We referenced many of these studies to ensure that our review was thorough and accurate. The information contained in this review results primarily from literature arising from observational studies and expert consensus, unless noted otherwise.

Down’s syndrome results from increased genetic material on all or a portion of chromosome 21 and is characterized by intellectual disability and risk for comorbidities involving multiple organ systems. 1 2 3 The survival of people with Down’s syndrome has improved dramatically in the past few decades; the median age at death is now the mid-50s compared with less than 10 years of age in the 1970s. 1 4 5 6 7 8 9 10 The aim of this clinical review is to assist healthcare professionals in caring for the growing population of adults with Down’s syndrome, highlighting areas for increased vigilance as this population ages and develops comorbidities.

How common is Down’s syndrome?

Down’s syndrome affects approximately 1 per 1000 live births worldwide, 11 with increased incidence associated with advanced maternal age. 3 With the introduction of commercially available first trimester fetal DNA testing in 2011, 12 the proportion of prenatal diagnoses of Down’s syndrome in the United Kingdom has increased from 54% (2008) to 66% (2012) for women younger than 35 years but has remained relatively stable at 71% for women older than 35 years. 13 Pregnancy termination rates after prenatal diagnosis of Down’s syndrome vary by country (67% in the United States, 90% in the United Kingdom) but seem to be unaffected by the new fetal DNA diagnostic testing. 13 14

Nevertheless, the prevalence of Down’s syndrome continues to increase worldwide, with dramatic gains in life expectancy in the past few decades. 1 4 6 7 As such, care for affected adults is relatively new territory with little evidence to guide providers. To date, few clinical trials have involved adults with Down’s syndrome. Unless otherwise noted, the information contained in this review is collected from international literature resulting from observational studies and expert consensus.

How long do people with Down’s syndrome live?

The survival of people with Down’s syndrome has dramatically increased in the past few decades, largely as a result of improved surgical repair of congenital heart defects. 1 4 6 7 8 Until the 1970s, the median age at death for children with Down’s syndrome was less than 10 years. 1 4 5 Now, 80% of affected individuals survive into adolescence, 15 with a median age at death in their mid-50s. 6 7 8 9 10

The leading causes of death in adults with Down’s syndrome are diseases of the respiratory and circulatory systems. The percentage of adults who die of cardiac causes (including consequences of congenital heart disease) is 25-40%, with an additional 20-40% of deaths resulting from respiratory infections. 8 9 16 17 The development of dementia becomes considerable after age 40, contributing to nearly one third of deaths. 8 Aside from childhood leukemia, the incidence of neoplasms—hematologic or solid tumor—is low in all age groups with Down’s syndrome. 8 17 The risk of cardiac atherosclerosis remains lower than in the general population without Down’s syndrome but increases to 13% in adults aged 50 or older. 8

What are the most common comorbid conditions in Down’s syndrome?

The table ⇓ details our recommendations for evaluation of comorbid conditions and their frequency.

Suggestions for periodic screening of various health domains

• View inline

Endocrinology

Hypothyroidism is present in 15-37% of people of all ages with Down’s syndrome. 18 26 44 64 It presents with symptoms such as fatigue, weight gain, decreased interest in activities, or a decline in skills. 2 27 81 Hyperthyroidism is slightly more common in people with Down’s syndrome (0.65%) than in the general population, presenting with weight loss, heat intolerance, and irritability. 65 Currently accepted guidelines advocate annual thyroid function tests. 2 35

Obesity is widespread in people with Down’s syndrome, 26 likely due to lower activity levels 82 and a lower metabolic rate, 83 84 making exercise and energy restriction critical in maintaining a healthy weight. Although exercise does improve muscle strength and balance in this population, significant weight loss requires programs combining interventions in exercise, nutrition, and behavior. 70 A comprehensive behavioral management program involving the patient’s family in conjunction with calorie limitations has been shown to be successful for weight loss in the Down’s syndrome population. 71

Down’s syndrome is an independent risk factor for osteoporosis. 77 85 Incidence of fracture is reported to be as high as 55% (long bones) or 30% (vertebral bodies) in adults with Down’s syndrome over 50 years old. 41 78 To prevent such fractures, we recommend screening adults for osteoporosis in their 40s based on these observational studies.

Congenital heart disease is present in 40-50% of people with Down’s syndrome, 2 18 19 with up to 60% attributable to some type of atrioventricular canal defect. 86 87 Common additional congenital heart disease pathology in this population includes atrial septal defect, ventricular septal defect, patent ductus arterious, tetralogy of fallot, and double outlet right ventricle. 87 Using routine prenatal ultrasound screening, prenatal diagnosis rates for serious congenital heart disease varies from 15-75% within the medical literature, with significantly improved detection resulting from consistent documentation of both the four chamber view of the heart and the fetal cardiac outflow tracts. 88 In the past, life expectancy was noticeably reduced due to heart defects and was the primary reason for early death in children with Down’s syndrome. Now, these lesions are routinely surgically corrected.

Providers must be alert for the development of acquired valve disease, specifically mitral valve prolapse and aortic regurgitation. 20 21 22 Mitral valve prolapse can present in up to 45% of adults with Down’s syndrome, which is often associated with mitral regurgitation. 87 In many of these cases a murmur is not detectable, so any signs of heart failure should be evaluated with an echocardiogram, such as dyspnea, orthopnea, raised jugular venous pressure, pulmonary rales, lower extremity edema, increased brain natriuretic peptide levels, or radiologic evidence of pulmonary edema. 89

Current expert opinion includes obtaining an echocardiogram for those who did not have one in childhood and a new echocardiogram for patients presenting with a new murmur or any clinical signs of heart failure. 2 87 Electrocardiograms should be obtained for any concerns of arrhythmia. 90

Gastroenterology

Gastroesophageal reflux is common in people with Down’s syndrome, as is dysphagia. Both can present with weight loss, decline in skills, or behavioral changes. The prevalence of gastroesophageal reflux is not well documented in the medical literature for children or adults with Down’s syndrome, likely due to the fact that it is often treated empirically. Twenty five per cent of adults with Down’s syndrome have major problems with swallowing, 91 and dysphagia accompanies the aging process in this condition. 92 In an observational study of adults with Down’s syndrome without known swallowing difficulties, more than 50% showed risks for aspiration. 93 One should assess for swallowing difficulties in the presence of signs of aspiration, such as coughing, sighing, burping, or throat clearing during mealtimes. 93 Evaluation consists of a modified barium swallow study in conjunction with a speech pathology consultation. 94 Interventions for aspiration can range from dietary restrictions to avoidance of easily aspirated foods, as well as guidance during meals to normalize eating rate. 93

Celiac disease can develop throughout the lifespan of people with Down’s syndrome, with an overall prevalence of 7-17%. 28 The condition can be asymptomatic 95 or can present with non-specific symptoms such as changes in behavior or mood, as well as weight loss and diarrhea. 28 Current recommendations suggest screening for symptomatic celiac disease in both children and adults. 2 36 37 The only known effective treatment is a strict gluten-free diet. 96 Though a celiac diet is restrictive, it is generally well tolerated in adults with Down’s syndrome.

Hematology-oncology

Though leukemia and transient myeloproliferative disorder are more common in children with Down’s syndrome, 63 new presentations decrease with age; more than 90% of cases occur before age 20. 97 A Danish study of more than 2800 people with Down’s syndrome found no cases of leukemia after age 29. 98 It is notable that childhood leukemias in people with Down’s syndrome are unusually sensitive to chemotherapy, and outcomes can be excellent. 63 99

People with Down’s syndrome have a high frequency of leukopenia, idiopathic macrocytosis, and mild polycythemia, often without underlying disease. 100 In one observational study, approximately two thirds of people with Down’s syndrome had an increased mean corpuscular volume and one third had mild leukopenia. 62 None the less, healthcare professionals must have a high index of suspicion for underlying disease, as adult onset leukemias do occur, albeit at a reduced rate. Providers should check a complete blood count in circumstances that would raise suspicion for hematologic processes, such as easy bruising, petechiae, onset of lethargy, or change in feeding patterns. 2

Pulmonology

Respiratory illnesses such as influenza, pneumonia, and aspiration pneumonia are common, 101 102 accounting for 25% of hospital admissions among adults with Down’s syndrome in an Israeli study. 103 Pneumonia is the leading cause of admission to hospital and the second leading cause of death in adults with Down’s syndrome after congenital heart disease. 8 17 103 The number of deaths attributable to pneumonia in Down’s syndrome increases proportionately with age, as the rate of death from congenital heart disease decreases. 8

Obstructive sleep apnea is among the most common comorbidities in adults with Down’s syndrome. 72 73 74 75 76 Many of the physical attributes associated with Down’s syndrome predispose affected people to sleep apnea, such as mid-face hypoplasia, small upper airway, small jaw, and relative macroglossia. 75 101 104 Obstructive sleep apnea can occur at any age and can present with changes in mood and behavior, a decline in skills, fatigue, and daytime sleepiness, as well as nocturnal gasping or choking episodes. 105 106

Behavioral and mental health

Concurrent mental health problems are common in people with Down’s syndrome, with depression, anxiety, obsessive-compulsive tendencies, and behavioral issues making up most diagnoses. 107 108 Mental illness can present with a decline in skills or urinary incontinence, which can be mislabeled as Alzheimer’s dementia. 108 Depression can be triggered by a stressful life event, such as separation from a parent or a death in the family. As depression is often responsive to medical therapy in those with Down’s syndrome, 109 differentiating it from dementia is vital. Discriminating depression from dementia can be difficult, as many symptoms overlap and depression can be an early sign of developing dementia. The more common presenting symptoms of depression in those with Down’s syndrome include withdrawal, decreased appetite, and decrease in speech. 110

Autism spectrum disorder is up to 10 times more common in children with Down’s syndrome than the general population. 107 111 Concurrent Down’s syndrome and autism in adulthood can be extremely difficult to treat, often requiring a specialist who works with adults with special needs. 107 Medical therapies, behavioral management, maintenance of a stable environment, and reduction of stressors are all accepted forms of therapy. 107

Developmental regression (young adults with disintegrative syndrome) is a rare condition that occurs in adolescents with Down’s syndrome, involving rapid, atypical loss of previously acquired skills in cognition, socialization, and activities of daily living, with an increase in maladaptive behaviors. 112 113 Clinical experience suggests this seems to occur in relation to transitions, hormonal or menstrual changes, or major life events. 112 Given the rarity of this phenomenon, little evidence exists to recommend standard treatment modalities, and management may need to involve a specialist working with adults with special needs. 112 Evaluation should include all causes of loss of skills (box).

Practical tips for the care of adults with Down’s syndrome

The differential diagnosis for a decline in skills includes:

hypothyroidism

sleep apnea

hearing loss

vision loss

seizure disorder

developmental regression

Optimal evaluation includes the involvement of specialists with expertise in these domains in people with developmental disabilities

Sleep apnea can present with a decline in skills and new mood disorders without other typical symptoms of apnea

Important causes of unexplained weight loss include celiac disease and gastroesophageal reflux or dyspepsia

Skin problems are widespread in people with Down’s syndrome, such as

hyperkeratosis

folliculitis

atopic dermatitis

Skin problems should be managed with traditional medical therapy as used in the general population

People with Down’s syndrome generally do well with consistent schedules and can blossom in a setting of predictable routine

Alzheimer’s dementia is a clinical diagnosis with increased incidence associated with aging in adults with Down’s syndrome (table). 53 Though autopsy specimens of adults with Down’s syndrome older than 35 years show neurofibrillary plaques and tangles, Alzheimer’s dementia does not develop universally in this population. 114 115 Few cases of true Alzheimer’s dementia present before age 40. 54 116

Distinguishable differences exist between the presentations of Alzheimer’s dementia in those with and without Down’s syndrome. People with both dementia and Down’s syndrome tend to develop sleep disturbance, apathy, gait changes, and personality changes. 117 Seizures and incontinence are also highly associated with the diagnosis of dementia in people with Down’s syndrome over age 40. 118

The diagnosis of Alzheimer’s dementia relies on the report of caregivers, which often focuses on behaviors that impact the caregivers themselves. This can lead to an overestimation of the diagnosis compared with direct assessment. Additionally, clinicians are predisposed to over-diagnose dementia in people with Down’s syndrome, as the clinical diagnosis of dementia is difficult to make and the inevitability of dementia is assumed. 117 Traditional tools, such as the mini-mental status examination, are unreliable and unusable in nearly half of adults with Down’s syndrome. 117 Despite multiple options, there is no evidence based consensus on the single best method for assessment of dementia in people with Down’s syndrome. 55 119 120 Two of these tools that are often used and generally accepted include the adaptive behavior dementia questionnaire 121 or the Camdex-R assessment of cognitive functioning. 117 An assessment for dementia must include medical and psychiatric investigations, as multiple conditions can mimic the decline of skills in Alzheimer’s dementia.

At this time, the treatments available for adults with Down’s syndrome and dementia are mainly supportive. While some providers will use traditional pharmacologic agents to slow the rate of decline, multiple Cochrane reviews of pharmaceutical treatment for dementia in adults with Down’s syndrome do not support this treatment owing to lack of evidence. 122 123 124 125 The largest trial of pharmaceutical intervention in adults with Down’s syndrome and dementia used memantine, which showed no benefit and a trend toward worse behaviors in the treatment group. 122 Consequently, current recommendations focus on interventions to minimize caregiver burden, including respite care and creating an environment in which the patient can maintain function.

Adult onset seizure disorder can occur as a precursor to the cognitive decline of Alzheimer’s dementia and can further impair cognitive function if uncontrolled. 111 126

Problems in the cervical spine are common in adults and children. While atlantoaxial instability is the most common problem in children, 27 degenerative disease of the cervical spine is more prevalent in adults (64-70%), with an additional 36% demonstrating lower cervical spondylosis. 28 50 51 52 Spinal imaging should be obtained to evaluate signs of spinal stenosis, such as hyperreflexia, clonus, and ataxia. 28

Are there any medical advantages in people with Down’s syndrome?

Several conditions are less common in people with Down’s syndrome than in the general population.

Hematology and oncology

Though the risk of leukemia is significantly increased in children with Down’s syndrome, this risk normalizes after age 20, 97 with a cumulative risk of leukemia of 2.7% by age 30. 128 Adults with Down’s syndrome are at lower risk for most solid tumors, such as cervical, breast, lung, and prostate cancers 99 129 ; however, they do seem to have a slight increased risk of ovarian and testicular germ cell tumors (standardized incidence ratios of 1.97 and 1.86, respectively). 98 128 130

While the risk of congenital heart disease is quite high, the incidence of coronary artery disease in adults with Down’s syndrome is decreased compared with the general population. 8 Autopsy studies show decreased plaque deposition in all arteries of adults with Down’s syndrome compared with the general population. 131

Adults with Down’s syndrome have decreased risk of hypertension, with blood pressure measurements averaging approximately 10 points lower than their age matched peers. 132

What is the approach to social aspects of care?

People with Down’s syndrome benefit greatly from consistency and routines in their schedule. 133 Once they have learnt a routine, they tend to have better skills for personal care, activities of daily living, and meal related activities than others with intellectual disabilities. 134 This need for consistency can, however, lead to difficulties with changes in routine or unexpected life events.

Extensive neuropsychiatric testing demonstrates that individuals with Down’s syndrome have much stronger visual immediate memories than verbal immediate memories. 111 135 As such, many persons with Down’s syndrome are able to remember people and events with excellent accuracy. While this is often an advantage, it can pose a problem with traumatic events, causing longer term impact than in the general population. 136

Can people with Down’s syndrome have children?

Women with Down’s syndrome have decreased fertility compared with women in the general population but can conceive and bear children. 137 138 Approximately 50% of their children will have Down’s syndrome; they also have increased risks for other congenital malformations. 139 It is therefore important to properly educate persons with Down’s syndrome about their reproductive capacity and to consider contraceptive methods to prevent undesired pregnancy. This should occur as conversations between the primary care provider, patient, and caregiver, in addition to what occurs within formal education settings. 140 Men with Down’s syndrome are typically considered sterile, but there have been case reports of children being fathered. 141

How should providers approach primary care in adults with Down’s syndrome?

The approach to primary care in adults with Down’s syndrome is similar to that of the general adult population, with the addition of screening for conditions specific to Down’s syndrome. 142 The table provides a checklist of domains that need higher attention than may be intuitive to the general practitioner.

What specialists are usually involved in the care of adults with Down’s syndrome?

While a primary care physician can manage most problems, a specialist can provide valuable care in several circumstances:

Congenital heart disease (with or without repair)—a cardiologist with an understanding of congenital heart defects should be involved. 20 90

Eye, dental, and hearing evaluations should be frequent and merit the involvement of optometrists or ophthalmologists, audiologists, and dentists. 2 26 35

Early hearing loss and cerumen impaction—referral to an otolaryngologist may be needed. 2

Dementia—neurologists can be helpful in assessment and management; they should also be involved in the care of seizure disorder and gait disturbance. 55 118

Atlantoaxial instability—neurosurgeons should evaluate all cases. 2

Several complex problems may best be served by providers with expertise in Down’s syndrome or adults with intellectual disabilities. In our clinical experience, we have found that comorbid psychiatric disease, such as obsessive-compulsive disorder or autism, can be challenging to manage and often merits the involvement of a psychiatrist or behavioral specialist with an interest in people with special needs. 107

Significant weight loss can result from behavioral problems, endocrine causes, or gastrointestinal causes (most commonly gastroesophageal reflux, celiac disease, hyperthyroidism, and diabetes). This may warrant evaluation by the appropriate specialists if a cause is not easily identified in primary care. 2 28

The most common causes for a decline in skills in adults with Down’s syndrome younger than age 40 are psychiatric issues and difficulty overcoming a loss, such as the death of a family member or caregiver. After age 40, evaluation for Alzheimer’s dementia should be included. 28

What ethical issues should be considered in the care of adults with Down’s syndrome?

Although people with mild to moderate intellectual disabilities can be trained in self advocacy skills, 143 many people with Down’s syndrome require assistance in making medical and legal decisions for their lives. This often results in establishing formal guardianship, lasting power of attorney (United Kingdom), or durable power of attorney (United States). However, given the spectrum of intellectual ability and disability present in people with Down’s syndrome, patients, caregivers, and providers must weigh the delicate balance between preserving autonomy and medical capacity.

To demonstrate capacity, people should understand in simple language the purpose and nature of the proposed medical treatment, its benefits, risks, and alternatives, and the consequences of foregoing treatment. People must be able to retain this information long enough to make an effective decision that is free from pressure. 144

The UK Mental Capacity Act of 2005 requires that providers assume patients are competent to make decisions unless they are obviously unable to do so and that patients must be given a reasonable chance to demonstrate their capacity. 145 The treatment of adults without capacity must be both necessary and in their best interests. 145 As with the Adults with Incapacity Act 2000 (Scotland), proxy decision makers must ensure that all decisions confer benefits on the patient and are advocated to use substituted judgment (that is, “what would the patient want?”) in such decisions. 146 Full guardianship, then, is intended for situations in which no other means are sufficient to safeguard or promote the best interest of adults without capacity. 146

Details of initial visit and annual examination of adults with Down’s syndrome

Routine age and sex appropriate primary care 2 26 35 40

Comprehensive review of medical and surgical history

Specific attention to patient’s history of and evaluation for common conditions associated with Down’s syndrome (see table)

Current functional status

Family history

At this time, expert consensus is that family history should dictate cardiac and cancer screenings (though rare, coronary artery disease and solid tumors do occur)

Social history

Living environment

Consistency in routine and daily schedules

Anticipated changes to daily activities or caregivers

Educational history

Occupational history

Insurance status

Supplemental income

Tobacco use or exposure

Alcohol use or exposure

Drug use or exposure

Reproductive history and sexual activity

Legal history

Guardianship, durable power of attorney, medical decision makers

Current and previous providers

Names and specialties of previous primary care providers and specialists

Allergy list and reactions

Medication list

*Data are compiled from multiple sources

Directions for further research

Basic science researchers of Down’s syndrome are currently working on several exciting domains:

Suppression of the extra copy of chromosome 21 within mouse models 147

Pharmacologic agents to improve overall cognition 148

Induction of human pluripotent stem cells derived from people with Down’s syndrome to create cortical neurons to test new pharmacologic agents aimed at treating Alzheimer’s dementia 149

Explorations regarding the pathophysiology behind the health benefits of Down’s syndrome are also intriguing, including their decreased risks of cancer, 99 129 coronary artery disease, 8 and hypertension 132

To better study health outcomes in adults with Down’s syndrome, more data are needed; leaders in this field are creating registries to better quantify the burden of comorbid conditions and to improve the quality of life for people with Down’s syndrome 150 151

Additional educational resources

Resource for healthcare professionals.

United Kingdom Down Syndrome Medical Interest Group ( www.dsmig.org.uk )—A review for healthcare professionals of “best practice” medical care for people with Down’s syndrome in the United Kingdom and Ireland

Resources for patients

National Down Syndrome Congress ( www.ndsccenter.org )—Resources, advocacy, and support for persons with Down’s syndrome in the United States

National Down Syndrome Society ( www.ndss.org )—Advocacy information for persons with Down’s syndrome in the United States

Canadian Down Syndrome Society ( www.cdss.ca )—Resources for the care and support of persons with Down’s syndrome living in Canada

Down Syndrome Australia ( www.downsyndrome.org.au/ )—A comprehensive site of resources for persons with Down’s syndrome living in Australia

Alzheimer’s and Down Syndrome ( http://alzheimers.gov/down_syndrome.html )—Resources regarding the diagnosis and treatment of Alzheimer’s dementia in persons with Down’s syndrome through the US Department of Health and Human Services

Cite this as: BMJ 2014;349:g5596

Competing interests: We have read and understood the BMJ policy on declaration of interests and declare the following interests: none.

Provenance and peer review: Commissioned; externally peer reviewed.

• ↵ World Health Organization. Genes and human disease. 2012. www.who.int/genomics/public/geneticdiseases/en/print.html .
• ↵ Bull MJ. Health supervision for children with Down Syndrome. Pediatrics 2011 ; 128 : 393 -406. OpenUrl Abstract / FREE Full Text
• ↵ Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev 2007 ; 13 : 221 -7. OpenUrl CrossRef PubMed Web of Science
• ↵ Lose EJ, Robin NH. Caring for adults with pediatric genetic diseases: a growing need. Curr Opin Pediatr 2007 ; 19 : 611 -2. OpenUrl CrossRef PubMed
• ↵ Centers for Disease Control and Prevention. Racial disparities in median age at death of persons with Down syndrome—United States, 1968-1997. MMWR Morb Mortal Wkly Rep 2001 ; 50 : 463 -5. OpenUrl PubMed
• ↵ Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH. The changing survival profile of people with Down’s syndrome: implications for genetic counselling. Clin Genet 2002 ; 62 : 390 -3. OpenUrl CrossRef PubMed Web of Science
• ↵ Presson AP, Partyka G, Jensen KM, Devine OJ, Rasmussen SA, McCabe LL, et al. Current estimate of Down Syndrome population prevalence in the United States. J Pediatr 2013 ; 163 : 1163 -8. OpenUrl CrossRef PubMed Web of Science
• ↵ Englund A, Jonsson B, Zander CS, Gustafsson J, Anneren G. Changes in mortality and causes of death in the Swedish Down syndrome population. Am J Med Genet A 2013 ;161A:642-9.
• ↵ Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, et al. Survival among people with Down syndrome: a nationwide population-based study in Denmark. Genet Med 2013 ; 15 : 64 -9. OpenUrl CrossRef PubMed
• ↵ Wu J, Morris JK. The population prevalence of Down’s syndrome in England and Wales in 2011. Eur J Hum Genet 2013 ; 21 : 1016 -9. OpenUrl CrossRef PubMed
• ↵ Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia 2003 ; 17 : 277 -82. OpenUrl CrossRef PubMed Web of Science
• ↵ Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011 ; 13 : 913 -20. OpenUrl CrossRef PubMed
• ↵ Morris JK, Springett A. National Down Syndrome Cytogenic Register for England and Wales: 2012 Annual Report: Queen Mary University of London, Barts; The London School of Medicine and Dentistry, 2014.
• ↵ Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011). Prenat Diagn 2012 ; 32 : 142 -53. OpenUrl CrossRef PubMed
• ↵ Hayes C, Johnson Z, Thornton L, Fogarty J, Lyons R, O’Connor M, et al. Ten-year survival of Down syndrome births. Int J Epidemiol 1997 ; 26 : 822 -9. OpenUrl Abstract / FREE Full Text
• ↵ Miodrag N, Silverberg SE, Urbano RC, Hodapp RM. Deaths among children, adolescents, and young adults with Down syndrome. J Appl Res Intellect Disabil 2013 ; 26 : 207 -14. OpenUrl CrossRef PubMed
• ↵ Bittles AH, Bower C, Hussain R, Glasson EJ. The four ages of Down syndrome. Eur J Public Health 2007 ; 17 : 221 -5. OpenUrl Abstract / FREE Full Text
• ↵ Maatta T, Maatta J, Tervo-Maatta T, Taanila A, Kaski M, Iivanainen M. Healthcare and guidelines: a population-based survey of recorded medical problems and health surveillance for people with Down syndrome. J Intellect Dev Disabil 2011 ; 36 : 118 -26. OpenUrl CrossRef PubMed
• ↵ Warnes CA, Liberthson R, Danielson GK, Dore A, Harris L, Hoffman JI, et al. Task force 1: the changing profile of congenital heart disease in adult life. J Am Coll Cardiol 2001 ; 37 : 1170 -5. OpenUrl CrossRef PubMed Web of Science
• ↵ Geggel RL, O’Brien JE, Feingold M. Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr 1993 ; 122 (5 Pt 1): 821 -3. OpenUrl CrossRef PubMed Web of Science
• ↵ Goldhaber SZ, Brown WD, Sutton MG. High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down’s syndrome. JAMA 1987 ; 258 : 1793 -5. OpenUrl CrossRef PubMed Web of Science
• ↵ Goldhaber SZ, Rubin IL, Brown W, Robertson N, Stubblefield F, Sloss LJ. Valvular heart disease (aortic regurgitation and mitral valve prolapse) among institutionalized adults with Down’s syndrome. Am J Cardiol 1986 ; 57 : 278 -81. OpenUrl CrossRef PubMed Web of Science
• Murphy J, Hoey HM, Philip M, Roche EF, Macken S, Mayne P, et al. Guidelines for the medical management of Irish children and adolescents with Down syndrome. Ir Med J 2005 ; 98 : 48 -52. OpenUrl PubMed
• Henderson A, Lynch SA, Wilkinson S, Hunter M. Adults with Down’s syndrome: the prevalence of complications and health care in the community. Br J Gen Pract 2007 ; 57 : 50 -5. OpenUrl Abstract / FREE Full Text
• Verma IC, Kabra M, Gangakhedkar AK. Optimal care for children with Down syndrome in India. Indian J Pediatr 1996 ; 63 : 121 -6. OpenUrl CrossRef PubMed
• ↵ Steingass KJ, Chicoine B, McGuire D, Roizen NJ. Developmental disabilities grown up: Down syndrome. J Dev Behav Pediatr 2011 ; 32 : 548 -58. OpenUrl CrossRef PubMed
• ↵ Roizen NJ. Medical care and monitoring for the adolescent with Down syndrome. Adolesc Med 2002 ; 13 : 345 -58, vii. OpenUrl PubMed
• ↵ Wallace RA, Dalton AJ. Clinicians’ guide to physical health problems of older adults with Down syndrome. J Dev Disabil 2006 ; 2 (Suppl 1): 1 -92. OpenUrl
• Carnicer J, Farre C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down’s syndrome. Eur J Gastroenterol Hepatol 2001 ; 13 : 263 -67. OpenUrl CrossRef PubMed Web of Science
• Carnicer J, Lorente I, Artigas J, Brun C, Farre F. Celiac disease in Down syndrome. Cytogenet Cell Genet 1997 ; 77 : 19 -19. OpenUrl
• Cerqueira RM, Rocha CM, Fernandes CD, Correia MR. Celiac disease in Portuguese children and adults with Down syndrome. Eur J Gastroenterol Hepatol 2010 ; 22 : 868 -71. OpenUrl CrossRef PubMed
• Nisihara RM, Kotze LM, Utiyama SR, Oliveira NP, Fiedler PT, Messias-Reason IT. Celiac disease in children and adolescents with Down syndrome. J Pediatr (Rio J) 2005 ; 81 : 373 -6. OpenUrl PubMed
• Uibo O, Teesalu K, Metskula K, Reimand T, Saat R, Sillat T, et al. Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies. World J Gastroenterol 2006 ; 12 : 1430 -4. OpenUrl PubMed Web of Science
• Virji-Babul N, Eichmann A, Kisly D, Down J, Haslam RH. Use of health care guidelines in patients with Down syndrome by family physicians across Canada. Paediatr Child Health 2007 ; 12 : 179 -83. OpenUrl PubMed Web of Science
• ↵ Smith DS. Health care management of adults with Down syndrome. Am Fam Physician 2001 ; 64 : 1031 -8. OpenUrl PubMed Web of Science
• ↵ Swigonski NL, Kuhlenschmidt HL, Bull MJ, Corkins MR, Downs SM. Screening for celiac disease in asymptomatic children with Down syndrome: cost-effectiveness of preventing lymphoma. Pediatrics 2006 ; 118 : 594 -602. OpenUrl Abstract / FREE Full Text
• ↵ Cohen WI. Down syndrome preventive medical check list. Down Syndr Q 1999 ; 4 : 1 -16. OpenUrl
• Cooley WC, Graham JM Jr. Down syndrome—an update and review for the primary pediatrician. Clin Pediatr (Phila) 1991 ; 30 : 233 -53. OpenUrl FREE Full Text
• American Academy of Pediatrics. Health supervision for children with Down syndrome. Pediatrics 2001 ; 107 : 442 -9. OpenUrl Abstract / FREE Full Text
• ↵ Wilson G, Cooley W. Preventive management of Down syndrome. Preventive health care for children with genetic conditions. 2nd ed. Cambridge University Press, 2006:175-93.
• ↵ Van Allen MI, Fung J, Jurenka SB. Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet 1999 ; 89 : 100 -10. OpenUrl CrossRef PubMed Web of Science
• Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am 2008 ; 55 : 1099 -111, xi. OpenUrl CrossRef PubMed
• American College of Obstetrics and Gynecology. ACOG: Medicare Screening Services. 2014. www.acog.org/~/media/Departments/Coding/2013MedicarePreventiveServices.pdf .
• ↵ Health care for adults with intellectual and developmental disabilities—toolkit for primary care providers: checklist—Down Syndrome. Vanderbilt Kennedy Center for Research on Human Development, 2014. http://vkc.mc.vanderbilt.edu/etoolkit/physical-health/health-watch-tables-2/down-syndrome/ .
• Van Riper M, Cohen WI. Caring for children with Down syndrome and their families. J Pediatr Health Care 2001 ; 15 : 123 -31. OpenUrl CrossRef PubMed
• Pueschel SM, Anneren G, Durlach R, Flores J, Sustrova M, Verma IC. Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH). Acta Paediatr 1995 ; 84 : 823 -7. OpenUrl CrossRef PubMed Web of Science
• Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics 1987 ; 80 : 555 -60. OpenUrl Abstract / FREE Full Text
• Taggard DA, Menezes AH, Ryken TC. Treatment of Down syndrome-associated craniovertebral junction abnormalities. J Neurosurg 2000 ; 93 (2 Suppl): 205 -13. OpenUrl PubMed Web of Science
• Radcliff K, Kepler C, Reitman C, Harrop J, Vaccaro A. CT and MRI-based diagnosis of craniocervical dislocations: the role of the occipitoatlantal ligament. Clin Orthop Relat Res 2012 ; 470 : 1602 -13. OpenUrl CrossRef PubMed
• ↵ Ali FE, Al-Bustan MA, Al-Busairi WA, Al-Mulla FA, Esbaita EY. Cervical spine abnormalities associated with Down syndrome. Int Orthop 2006 ; 30 : 284 -9. OpenUrl CrossRef PubMed Web of Science
• ↵ Maclachlan RA, Fidler KE, Yeh H, Hodgetts PG, Pharand G, Chau M. Cervical-spine abnormalities in institutionalized adults with Downs syndrome. J Intellect Disabil Res 1993 ; 37 : 277 -85. OpenUrl PubMed
• ↵ Olive PM, Whitecloud TS, Bennett JT. Lower cervical spondylosis and myelopathy in adults with Downs syndrome. Spine 1988 ; 13 : 781 -4. OpenUrl CrossRef PubMed Web of Science
• ↵ Visser FE, Aldenkamp AP, van Huffelen AC, Kuilman M, Overweg J, van Wijk J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard 1997 ; 101 : 400 -12. OpenUrl PubMed Web of Science
• ↵ Livingston G, Strydom A. Improving Alzheimer’s disease outcomes in Down’s syndrome. Lancet 2012 ; 379 : 498 -500. OpenUrl CrossRef PubMed Web of Science
• ↵ Kozma C. Down syndrome and dementia. Top Geriatr Rehabil 2008 ; 24 : 41 -53. OpenUrl CrossRef
• Tyler C, Edman JC. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. Prim Care 2004 ; 31 : 627 -48, x-xi. OpenUrl CrossRef PubMed Web of Science
• Bosch JJ. Health maintenance throughout the life span for individuals with Down syndrome. J Am Acad Nurse Pract 2003 ; 15 : 5 -17. OpenUrl CrossRef PubMed
• Preventive health care screening guidelines for people aging with intellectual and other developmental disabilities. New York Commissioner’s Task Forces on Aging—Subcommittee on Health, 2010. www.omr.state.ny.us/document/image/hp_brochures_preventhealthfinal.pdf .
• Baum RA, Nash PL, Foster JE, Spader M, Ratliff-Schaub K, Coury DL. Primary care of children and adolescents with down syndrome: an update. Curr Probl Pediatr Adolesc Health Care 2008 ; 38 : 241 -61. OpenUrl CrossRef PubMed
• Van Allen MI, Fung J, Jurenka SB. Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet 1999 ; 89 : 100 -10. OpenUrl CrossRef PubMed Web of Science
• Fergeson MA, Mulvihill JJ, Schaefer GB, Dehaai KA, Piatt J, Combs K, et al. Low adherence to national guidelines for thyroid screening in Down syndrome. Genet Med 2009 ; 11 : 548 -51. OpenUrl CrossRef PubMed
• ↵ Dixon N, Kishnani PS, Zimmerman S. Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. Am J Med Genet C 2006 ;142C:149-57.
• ↵ Seewald L, Taub JW, Maloney KW, McCabe ER. Acute leukemias in children with Down syndrome. Mol Genet Metab 2012 ; 107 (1-2): 25 -30. OpenUrl CrossRef PubMed
• ↵ Prasher V, Gomez G. Natural history of thyroid function in adults with Down syndrome—10-year follow-up study. J Intellect Disabil Res 2007 ; 51 (Pt 4): 312 -7. OpenUrl CrossRef PubMed Web of Science
• ↵ Goday-Arno A, Cerda-Esteva M, Flores-Le-Roux JA, Chillaron-Jordan JJ, Corretger JM, Cano-Perez JF. Hyperthyroidism in a population with Down syndrome (DS). Clin Endocrinol (Oxf) 2009 ; 71 : 110 -4. OpenUrl CrossRef PubMed
• Centers for Disease Control and Prevention. Recommended adult immunization schedule—United States, 2014. www.cdc.gov/vaccines/schedules/hcp/imz/adult.html .
• American Academy of Pediatrics—Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 1994 ; 93 : 855 -9. OpenUrl Abstract / FREE Full Text
• Saenz RB. Primary care of infants and young children with Down syndrome. Am Fam Physician 1999 ; 59 : 381 -90, 92, 95-6. OpenUrl PubMed Web of Science
• Fujiura GT, Fitzsimons N, Marks B, Chicoine B. Predictors of BMI among adults with Down syndrome: the social context of health promotion. Res Dev Disabil 1997 ; 18 : 261 -74. OpenUrl CrossRef PubMed Web of Science
• ↵ Li C, Chen S, Meng How Y, Zhang AL. Benefits of physical exercise intervention on fitness of individuals with Down syndrome: a systematic review of randomized-controlled trials. Int J Rehabil Res 2013 ; 36 : 187 -95. OpenUrl CrossRef PubMed
• ↵ Curtin C, Bandini LG, Must A, Gleason J, Lividini K, Phillips S, et al. Parent support improves weight loss in adolescents and young adults with Down syndrome. J Pediatr 2013 ; 163 : 1402 -8. OpenUrl CrossRef PubMed Web of Science
• ↵ Shott SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C 2006 ;142C:131-40.
• ↵ Marcus CL, Keens TG, Bautista DB, von Pechmann WS, Ward SL. Obstructive sleep apnea in children with Down syndrome. Pediatrics 1991 ; 88 : 132 -9. OpenUrl Abstract / FREE Full Text
• ↵ De Miguel-Diez J, Villa-Asensi JR, Alvarez-Sala JL. Prevalence of sleep-disordered breathing in children with Down syndrome: polygraphic findings in 108 children. Sleep 2003 ; 26 : 1006 -9. OpenUrl PubMed Web of Science
• ↵ Pandit C, Fitzgerald DA. Respiratory problems in children with Down syndrome. J Paediatr Child Health 2012 ; 48 : E147 -52. OpenUrl CrossRef PubMed Web of Science
• ↵ Rosen D. Management of obstructive sleep apnea associated with Down syndrome and other craniofacial dysmorphologies. Curr Opin Pulm Med 2011 ; 17 : 431 -6. OpenUrl PubMed
• ↵ Dreyfus D, Lauer E, Wilkinson J. Characteristics associated with bone mineral density screening in adults with intellectual disabilities. J Am Board Fam Med 2014 ; 27 : 104 -14. OpenUrl Abstract / FREE Full Text
• ↵ McKelvey KD, Fowler TW, Akel NS, Kelsay JA, Gaddy D, Wenger GR, et al. Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporos Int 2013 ; 24 : 1333 -8. OpenUrl CrossRef PubMed
• Kerins G, Petrovic K, Bruder MB, Gruman C. Medical conditions and medication use in adults with Down syndrome: a descriptive analysis. Downs Syndr Res Pract 2008 ; 12 : 141 -7. OpenUrl CrossRef PubMed
• Jasien J, Daimon CM, Maudsley S, Shapiro BK, Martin B. Aging and bone health in individuals with developmental disabilities. Int J Endocrinol 2012 ; 2012 : 469235 . OpenUrl PubMed
• ↵ Roizen NJ, Patterson D. Down’s syndrome. Lancet 2003 ; 361 : 1281 -9. OpenUrl CrossRef PubMed Web of Science
• ↵ Hsieh K, Rimmer JH, Heller T. Obesity and associated factors in adults with intellectual disability. J Intellect Disabil Res 2014 ; 58 : 851 -63. OpenUrl CrossRef PubMed
• ↵ De Winter CF, Bastiaanse LP, Hilgenkamp TI, Evenhuis HM, Echteld MA. Overweight and obesity in older people with intellectual disability. Res Dev Disabil 2012 ; 33 : 398 -405. OpenUrl CrossRef PubMed
• ↵ Allison DB, Gomez JE, Heshka S, Babbitt RL, Geliebter A, Kreibich K, et al. Decreased resting metabolic rate among persons with Down Syndrome. Int J Obes Relat Metab Disord 1995 ; 19 : 858 -61. OpenUrl PubMed
• ↵ Geijer JR, Stanish HI, Draheim CC, Dengel DR. Bone mineral density in adults with Down syndrome, intellectual disability, and nondisabled adults. Am J Intellect Develop Disabil 2014 ; 119 : 107 -14. OpenUrl CrossRef
• ↵ Tan M, Xu C, Sim SK, Seow AL, Tan TH, Quek SC. Types and distribution of congenital heart defects associated with trisomy 21 in Singapore. J Paediatr Child Health 2013 ; 49 : 223 -7. OpenUrl CrossRef PubMed Web of Science
• ↵ Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 2008 ; 10 : 469 -94. OpenUrl CrossRef PubMed Web of Science
• ↵ Levy DJ, Pretorius DH, Rothman A, Gonzales M, Rao C, Nunes ME, et al. Improved prenatal detection of congenital heart disease in an integrated health care system. Pediatr Cardiol 2013 ; 34 : 670 -9. OpenUrl CrossRef PubMed
• ↵ Schocken DD, Arrieta MI, Leaverton PE, Ross EA. Prevalence and mortality rate of congestive heart failure in the United States. J Am Coll Cardiol 1992 ; 20 : 301 -6. OpenUrl CrossRef PubMed Web of Science
• ↵ Majdalany DS, Burkhart HM, Connolly HM, Abel MD, Dearani JA, Warnes CA, et al. Adults with Down syndrome: safety and long-term outcome of cardiac operation. Congenit Heart Dis 2010 ; 5 : 38 -43. OpenUrl CrossRef PubMed Web of Science
• ↵ Faulks D, Collado V, Mazille MN, Veyrune JL, Hennequin M. Masticatory dysfunction in persons with Down’s syndrome. Part 1: aetiology and incidence. J Oral Rehabil 2008 ; 35 : 854 -62. OpenUrl CrossRef PubMed Web of Science
• ↵ Lazenby T. The impact of aging on eating, drinking, and swallowing function in people with Down’s syndrome. Dysphagia 2008 ; 23 : 88 -97. OpenUrl CrossRef PubMed Web of Science
• ↵ Smith CH, Teo Y, Simpson S. An observational study of adults with Down syndrome eating independently. Dysphagia 2014 ; 29 : 52 -60. OpenUrl CrossRef PubMed Web of Science
• ↵ Palmer JB, Drennan JC, Baba M. Evaluation and treatment of swallowing impairments. Am Fam Physician 2000 ; 61 : 2453 -62. OpenUrl PubMed Web of Science
• ↵ Rosen A, Sandstrom O, Carlsson A, Hogberg L, Olen O, Stenlund H, et al. Usefulness of symptoms to screen for celiac disease. Pediatrics 2014 ; 133 : 211 -8. OpenUrl Abstract / FREE Full Text
• ↵ Mooney PD, Hadjivassiliou M, Sanders DS. Coeliac disease. BMJ 2014 ; 348 : g1561 . OpenUrl FREE Full Text
• ↵ Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002 ; 359 : 1019 -25. OpenUrl CrossRef PubMed Web of Science
• ↵ Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet 2000 ; 355 : 165 -9. OpenUrl CrossRef PubMed Web of Science
• ↵ Malinge S, Izraeli S, Crispino JD. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood 2009 ; 113 : 2619 -28. OpenUrl Abstract / FREE Full Text
• ↵ Akin K. Macrocytosis and leukopenia in Down’s syndrome. JAMA 1988 ; 259 : 842 . OpenUrl CrossRef PubMed
• ↵ McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J Pediatr 2011 ; 158 : 319 -25. OpenUrl CrossRef PubMed Web of Science
• ↵ Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011 ; 164 : 9 -16. OpenUrl CrossRef PubMed
• ↵ Tenenbaum A, Chavkin M, Wexler ID, Korem M, Merrick J. Morbidity and hospitalizations of adults with Down syndrome. Res Dev Disabil 2012 ; 33 : 435 -41. OpenUrl CrossRef PubMed
• ↵ Trois MS, Capone GT, Lutz JA, Melendres MC, Schwartz AR, Collop NA, et al. Obstructive sleep apnea in adults with Down syndrome. J Clin Sleep Med 2009 ; 5 : 317 -23. OpenUrl PubMed
• ↵ Capone GT, Aidikoff JM, Taylor K, Rykiel N. Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: co-morbid obstructive sleep apnea. Am J Med Genet A 2013 ; 161 : 2188 -96. OpenUrl CrossRef
• ↵ Myers KA, Mrkobrada M, Simel DL. Does this patient have obstructive sleep apnea?: the rational clinical examination systematic review. JAMA 2013 ; 310 : 731 -41. OpenUrl CrossRef PubMed Web of Science
• ↵ Capone G, Goyal P, Ares W, Lannigan E. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet C 2006 ;142C:158-72.
• ↵ Mantry D, Cooper SA, Smiley E, Morrison J, Allan L, Williamson A, et al. The prevalence and incidence of mental ill-health in adults with Down syndrome. J Intellect Disabil Res 2008 ; 52 (Pt 2): 141 -55. OpenUrl PubMed
• ↵ Walker JC, Dosen A, Buitelaar JK, Janzing JG. Depression in Down syndrome: a review of the literature. Res Dev Disabil 2011 ; 32 : 1432 -40. OpenUrl CrossRef PubMed
• ↵ Dykens EM. Psychiatric and behavioral disorders in persons with Down syndrome. Ment Retard Develop Disabil Res Rev 2007 ; 13 : 272 -8. OpenUrl CrossRef
• ↵ Lott IT, Dierssen M. Cognitive deficits and associated neurological complications in individuals with Down’s syndrome. Lancet Neurol 2010 ; 9 : 623 -33. OpenUrl CrossRef PubMed Web of Science
• ↵ Devenny D, Matthews A. Regression: atypical loss of attained functioning in children and adolescents with Down syndrome. In: Hodapp RM, ed. International review of research in developmental disabilities. Academic Press, 2011:233-64.
• ↵ Prasher VP. Disintegrative syndrome in young adults. Ir J Psychol Med 2002 ; 19 : 101 . OpenUrl
• ↵ Zigman WB, Devenny DA, Krinsky-McHale SJ, Jenkins EC, Urv TK, Wegiel J, et al. Alzheimer’s fisease in adults with Down Syndrome. Int Rev Research Ment Retard 2008 ; 36 : 103 -45. OpenUrl CrossRef
• ↵ Lott IT, Head E. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiol Aging 2005 ; 26 : 383 -9. OpenUrl CrossRef PubMed Web of Science
• ↵ Zigman WB, Lott IT. Alzheimer’s disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev 2007 ; 13 : 237 -46. OpenUrl CrossRef PubMed Web of Science
• ↵ Nieuwenhuis-Mark RE. Diagnosing Alzheimer’s dementia in Down syndrome: problems and possible solutions. Res Dev Disabil 2009 ; 30 : 827 -38. OpenUrl CrossRef PubMed Web of Science
• ↵ Menendez M. Down syndrome, Alzheimer’s disease and seizures. Brain Dev 2005 ; 27 : 246 -52. OpenUrl CrossRef PubMed Web of Science
• ↵ Zeilinger EL, Stiehl KA, Weber G. A systematic review on assessment instruments for dementia in persons with intellectual disabilities. Res Dev Disabil 2013 ; 34 : 3962 -77. OpenUrl CrossRef PubMed
• ↵ Adams D, Oliver C. The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome. J Intellect Disabil Res 2010 ; 54 : 393 -405. OpenUrl CrossRef PubMed
• ↵ Prasher V, Farooq A, Holder R. The Adaptive Behaviour Dementia Questionnaire (ABDQ): screening questionnaire for dementia in Alzheimer’s disease in adults with Down syndrome. Res Dev Disabil 2004 ; 25 : 385 -97. OpenUrl CrossRef PubMed
• ↵ Mohan M, Bennett C, Carpenter PK. Memantine for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009 ; 1 : CD007657 . OpenUrl PubMed
• ↵ Mohan M, Bennett C, Carpenter PK. Galantamine for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009 ; 1 : CD007656 . OpenUrl PubMed
• ↵ Mohan M, Bennett C, Carpenter PK. Rivastigmine for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009 ; 1 : CD007658 . OpenUrl PubMed
• ↵ Mohan M, Carpenter PK, Bennett C. Donepezil for dementia in people with Down syndrome. Cochrane Database Syst Rev 2009 ; 1 : CD007178 . OpenUrl PubMed
• ↵ Puri BK, Ho KW, Singh I. Age of seizure onset in adults with Down’s syndrome. Int J Clin Pract 2001 ; 55 : 442 -4. OpenUrl PubMed Web of Science
• Hwang SW, Jea A. A review of the neurological and neurosurgical implications of Down syndrome in children. Clin Pediatr (Phila) 2013 ; 52 : 845 -56. OpenUrl Abstract / FREE Full Text
• ↵ Hasle H. Pattern of malignant disorders in individuals with Down’s syndrome. Lancet Oncol 2001 ; 2 : 429 -36. OpenUrl CrossRef PubMed
• ↵ Nizetic D, Groet J. Tumorigenesis in Down’s syndrome: big lessons from a small chromosome. Nature Rev Cancer 2012 ; 12 : 721 -32. OpenUrl CrossRef PubMed Web of Science
• ↵ Satge D, Sasco AJ, Cure H, Leduc B, Sommelet D, Vekemans MJ. An excess of testicular germ cell tumors in Down’s syndrome: three case reports and a review of the literature. Cancer 1997 ; 80 : 929 -35. OpenUrl CrossRef PubMed Web of Science
• ↵ Murdoch JC, Rodger JC, Rao SS, Fletcher CD, Dunnigan MG. Down’s syndrome: an atheroma-free model? BMJ 1977 ; 2 : 226 -8. OpenUrl Abstract / FREE Full Text
• ↵ Rodrigues AN, Coelho LC, Goncalves WL, Gouvea SA, Vasconcellos MJ, Cunha RS, et al. Stiffness of the large arteries in individuals with and without Down syndrome. Vasc Health Risk Manag 2011 ; 7 : 375 -81. OpenUrl PubMed
• ↵ McGuire D. The Groove. 2014. www.dsamn.org/wp-content/uploads/2012/03/TheGroove.pdf .
• ↵ Esbensen AJ. Health conditions associated with aging and end of life of adults with Down syndrome. Int Rev Res Ment Retard 2010 ; 39 (C): 107 -26. OpenUrl CrossRef PubMed
• ↵ Edgin JO, Pennington BF, Mervis CB. Neuropsychological components of intellectual disability: the contributions of immediate, working, and associative memory. J Intellect Disabil Res 2010 ; 54 : 406 -17. OpenUrl CrossRef PubMed
• ↵ Pueschel S. A personal account. In: Cohen WI, Nadel L, Madnick ME, eds. Down syndrome: visions for the 21st Century. Wiley-Liss, 2002:149-54.
• ↵ McGuire DE, Chicoine BA. Life issues of adolescents and adults with Down syndrome. In: Cohen WI, Nadel L, Madnick ME, eds. Down syndrome: visions for the 21st Century. Wiley-Liss, 2002:221-45.
• ↵ Edwards J. Sexuality, marriage, and parenting for persons wtih Down syndrome. In: Pueschel SM, ed. The young person with Down syndrome: transition from adolescence to adulthood. Paul H Brookes Publishing, 1988:187-204.
• ↵ Bovicelli L, Orsini LF, Rizzo N, Montacuti V, Bacchetta M. Reproduction in Down syndrome. Obstet Gynecol 1982 ; 59 (6 Suppl): 13S -7S. OpenUrl PubMed
• ↵ Couwenhoven T. Teaching children with Down syndrome about their bodies, boundaries, and sexuality: a guide for parents and professionals. Woodbine House, 2007.
• ↵ Pradhan M, Dalal A, Khan F, Agrawal S. Fertility in men with Down syndrome: a case report. Fertil Steril 2006 ; 86 : 1765 , e1-3. OpenUrl PubMed
• ↵ Jensen KM, Taylor LC, Davis MM. Primary care for adults with Down syndrome: adherence to preventive healthcare recommendations. J Intellect Disabil Res 2013 ; 57 : 409 -21. OpenUrl CrossRef PubMed
• ↵ Feldman MA, Owen F, Andrews A, Hamelin J, Barber R, Griffiths D. Health self-advocacy training for persons with intellectual disabilities. J Intellect Disabil Res 2012 ; 56 : 1110 -21. OpenUrl CrossRef PubMed
• ↵ Tan JO, McMillan JR. The discrepancy between the legal definition of capacity and the British Medical Association’s guidelines. J Med Ethics 2004 ; 30 : 427 -9. OpenUrl FREE Full Text
• ↵ White SM, Seery J. Consent: the law and ethical considerations. Anaesth Intensive Care Med 2009 ; 10 : 111 -4. OpenUrl CrossRef
• ↵ Stevenson GS, Ryan T, Anderson S. Principles, patient welfare and the Adults with Incapacity (Scotland) Act 2000. Int J Law Psychiatry 2009 ; 32 : 120 -6. OpenUrl CrossRef PubMed Web of Science
• ↵ Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, et al. Translating dosage compensation to trisomy 21. Nature 2013 ; 500 : 296 -300. OpenUrl CrossRef PubMed Web of Science
• ↵ Busciglio J, Capone G, O’Byran JP, Gardiner KJ. Down syndrome: genes, model systems, and progress towards pharmacotherapies and clinical trials for cognitive deficits. Cytogenet Genome Res 2013 ; 141 : 260 -71. OpenUrl CrossRef PubMed
• ↵ Shi Y, Kirwan P, Smith J, MacLean G, Orkin SH, Livesey FJ. A human stem cell model of early Alzheimer’s disease pathology in Down syndrome. Sci Transl Med 2012 ; 4 : 124ra29 . OpenUrl Abstract / FREE Full Text
• ↵ Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, et al. Down syndrome: national conference on patient registries, research databases, and biobanks. Mol Genet Metab 2011 ; 104 (1-2): 13 -22. OpenUrl CrossRef PubMed
• ↵ National Institutes of Health. DS-Connect: the Down Syndrome Registry. 2014. https://dsconnect.nih.gov/ .

Academia.edu no longer supports Internet Explorer.

To browse Academia.edu and the wider internet faster and more securely, please take a few seconds to  upgrade your browser .

Enter the email address you signed up with and we'll email you a reset link.

• We're Hiring!
• Help Center

Down Syndrome: A Case Study

2012, UMAK Graduate School

Intellectual Disability is a form of developmental disability in which person’s intelligence and abilities to adjust to various situations and environment are below what expected of his or her age. A child with mental retardation may experience difficulty in learning, developing new skills adapting to various social conditions, communicating and excelling in the standard academic environment.

Related Papers

Encyclopedia of Critical Psychology, T Teo (Ed)

Mark Burton

Nursing Clinics of North America

Joan Earle Hahn

Outlines. Critical Practice Studies

Silviane B Barbato

The historical-cultural theory of Intellectual Disability (DI) overcompensation/compensation is referenced in several studies, but little empirical evidence is presented to corroborate this thesis. In this work, 13 current studies were analysed about the behavioural profile of people with Down syndrome (DS), a case of neurobiological ID, published in the last 15 years, in order to verify the possibility of dialogue with the theorizing about compensation. Despite contributing to an up to date understanding of DS, the results point to similarities between different scientific traditions allowing discussions regarding methodologies, data interpretation, language comprehension, and the impact of the studies for school inclusion and the development of people with ID/DS. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed to the affective motivators/emotions of t...

Down Syndrome Research and Practice

Markus Kaski

OUTLINES -CRITICAL PRACTICE STUDIES

The historical-cultural theory of Intellectual Disability (ID) overcompensation / compensation is referenced in several studies, but little empirical evidence is presented to corroborate its thesis. In this work, current studies on Down syndrome (DS), the most studied worldwide neurobiological occurrence of ID, were analyzed establishing a dialogue with compensation theorization. Apart from contributing to an up-to-date understanding of DS, the study points to similarities between different scientific traditions, allowing discussion of methodologies, data interpretation, language comprehension, as well as the impact of studies for school inclusion and the development of ID / DS people. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed towards the affective motivators / emotions of the person with ID / DS by means of more dynamic systems perspectives and interpretative methodologies.

Tuomo Määttä

QUEST JOURNALS

The term Intellectual Disability will be used in this study to avoid confusion between the words mental retardation and mental illness. Intellectual disability is a complex and multi-dimensional problem. Many people have a wrong conception that intellectual disability is a disease. But the fact is that it is a condition rather than a disease. Developmental milestones of children with intellectual disabilities are characterized by delayed development. Disabling conditions are challenging for their survival and personality development. They are differently able and their needs are special which requires special care, education, rehabilitation and protection. Inclusive policy and mainstreaming services requires proper strategy from management and stake holders to create opportunities and boost up children's morals. Research study on intellectual disability may help developing plans and programmes by surfacing more relevant data to the researchers and service providers. The objectives of this study are to know the causes of intellectual disability and family's economic background and to suggest measures for its intervention.

Leslie Rubin

Intellectual disability (ID) is the term used to describe a condition defined by limits in cognitive and adaptive abilities that affect function and initially manifest before 18 years of age. This term supplanted the earlier term ‘mental retardation’ within the past two decades. The term developmental disability (DD) was coined de novo in the 1970s when the Developmental Disabilities Act of the US Congress was passed. While an ID is determined by formal psychometric testing to assess the intelligence quotient and adaptive functioning, the term DD is more generic and may include elements of physical limitations in addition to the ID. Both terms are often used interchangeably and have been blended into the term intellectual and developmental disabilities (IDD) to be inclusive for or all individuals who have limitations in cognitive as well as physical functions that are: based on central nervous system dysfunction, manifest in the childhood years, and have lifelong implications. Our g...

Simon Whitaker

I have been a clinical psychologist working in what we now call intellectual disability (ID) for the past 25 years. Over this time I have become increasingly concerned about how the concept of ID is defined and understood by others. It seems to me that ID is often seen as a discrete entity that can be easily identified. This, together with an increasing trend towards specifying criteria for services, has led to many people who are in need of a service being refused one on the grounds that they do not have an ID.

RELATED PAPERS

Tla-Melaua. Revista de Ciencias Sociales

Francisco Sánchez Espinoza

Medical Physics

Henry Spitz

Osteoporosis International

Anwar Jammah

SSRN Electronic Journal

Mashudi Mashudi

Ulisse Di Corpo

RECI Revista Iberoamericana de las Ciencias Computacionales e Informática

Yahevh Mora

Mehmet Ali Anadol

Advanced Engineering Materials

Mehdi Montazeri-Pour

Rhizosphere

mohsen movahhedi dehnavi

Karina Clavijo

Cornell University - arXiv

Germana Landi

Int J Sports Med

Luiz Augusto Riani Costa

Acceptance and Mindfulness-Based Approaches to Anxiety

Jill Levitt

Journal of Agricultural and Food Chemistry

andrea balázs

BIO-PROTOCOL

Edgar Soria-Gomez

Organic & Biomolecular Chemistry

Debasis Kar

Advances in Pure Mathematics

Shuya Kanagawa

Critical Reviews in Oncology/Hematology

Jan Kleibeuker

Quality in primary care

Ruth Chambers

TMS 2019 148th Annual Meeting & Exhibition Supplemental Proceedings

Química Nova

Fernando Almeida Santos

Nuclear Engineering and Design

Stefano Rolfo

Journal of Mathematics and Science: Collaborative Explorations

Bulletin of the American …

Alexander Litvak

Data & Knowledge Engineering

Reed Little

RELATED TOPICS

•   We're Hiring!
•   Help Center
• Find new research papers in:
• Health Sciences
• Earth Sciences
• Cognitive Science
• Mathematics
• Computer Science
• Academia ©2024

• < Previous

Home > graduate > Dissertations > 532

Dissertations

A case analysis of three middle-school boys who have down syndrome and have been in regular education classes since preschool.

Eileen Frances Luddy , Andrews University Follow

Date of Award

Document type.

Dissertation

Degree Name

Doctor of Philosophy

Educational Leadership PhD

First Advisor

James A. Tucker

Second Advisor

Shirley A. Freed

Third Advisor

Beverly Rainforth

This study investigated the experiences of three middle-school boys who have Down syndrome and have always attended regular education classes.

Despite the existence of policies and initiatives in support of inclusive education, research on the implementation of inclusive practices in middle schools is sparse.

This study is organized in nine chapters. A review of literature revealed that significant research conducted during the past decade supports the practice of including students with disabilities in regular education and the benefits of inclusion outweigh the benefits of separate instruction.

A case study approach investigated the phenomenon covering contextual conditions surrounding the experiences of the three students. The parents of the three students participated in a focus group interview. The teams that support the students were interviewed. Three to four friends of each boy were interviewed. Direct observations occurred in each school. The observations were videotaped, transcribed, and analyzed. Documents from the students educational records, including the IEP and work samples were analyzed.

Each student is presented in a profile. The students teams are profiled, and their educational programs are discussed. Triangulation of the data and analysis of the transcripts culminate in a representation of each student in “a day in the life of...” story. A cross-case analysis compared the students Individualized Educational Plans and overall educational services.

Patterns of themes emerged in the early stages of the study and transcended the three cases. The conclusion identifies components to successful inclusion. The effect the students’ had on others and the limitations of labeling are discussed

The themes of satisfaction and relationships emerged and were paramount in the students successes. Learning was evident throughout the study. The learning that occurred, not only for the students, but for all of the members of their teams, contributed to the quality of this study.

Subject Area

Down syndrome--Case studies, Children with mental disabilities--Education, Mainstreaming in education.

Recommended Citation

Luddy, Eileen Frances, "A Case Analysis of Three Middle-School Boys Who Have Down Syndrome and Have Been in Regular Education Classes Since Preschool" (2002). Dissertations . 532. https://digitalcommons.andrews.edu/dissertations/532 https://dx.doi.org/10.32597/dissertations/532/

Creative Commons License

https://dx.doi.org/10.32597/dissertations/532/

Files over 3MB may be slow to open. For best results, right-click and select "save as..."

Since June 08, 2015

Included in

Disability and Equity in Education Commons , Educational Assessment, Evaluation, and Research Commons

Library Links

• James White Library

Advanced Search

• Notify me via email or RSS
• Collections
• Disciplines

Author Corner

Home | About | FAQ | My Account | Accessibility Statement

Privacy Copyright

• Diabetes Care for Children & Young People

Vol:10 | No:03

Case study: A five-year-old boy with Down’s syndrome recently diagnosed with type 1 diabetes

• 18 Aug 2021

Share this article + Add to reading list – Remove from reading list ↓ Download pdf

He was started on insulin therapy with multiple daily injections and received a Dexcom G6™ (Dexcom Inc, San Diego, CA, USA) for real-time continuous glucose monitoring (rtCGM). The insulin regimen chosen was 1.5 units of long-acting insulin analogue (Levemir) with breakfast and 2.5 units at bedtime; and meal-time fast-acting insulin aspart (Fiasp). His parents were given carbohydrate counting education and he was started on insulin aspart injection with ratios of 1:15 for breakfast, 1:16 for lunch and 1:21 for dinner. A month after starting insulin therapy, his HbA 1c was 75 mmol/mol (11.7%).

There is a higher incidence of T1D in individuals with DS compared with the general population (Bergholdt et al, 2006, Rohrer et al, 2010). Furthermore, Bergholdt et al (2006) considered the prevalence of T1D in all children born in Denmark from 1981–2000 and found the prevalence of children with DS and T1D was 4.2 times higher than the prevalence of T1D in the background population. DS is also associated with a higher risk of developing other autoimmune conditions, such as coeliac disease and hypothyroidism (Lämmer et al, 2008; Aitken et al, 2013). In one study, the incidence of individuals with diabetes and DS who were diagnosed with thyroid disease and coeliac disease was 74% and 14%, respectively (Aitken et al, 2013). The child presented in this case study did not have a co-existing autoimmune condition at diagnosis, but there is an increased risk that he will develop  one in the future.

Additional challenges

A diagnosis of T1D has a huge impact on the lives of both the child and their parents. It involves a lifetime of daily injections, monitoring glucose levels and accounting for every meal and snack eaten. For all families of a recently diagnosed child this is a challenging time (Lindström et al, 2011), but for the family of a child with DS, there are additional challenges for both them and the diabetes care teams (Pikora et al, 2014). The aim of diabetes care is to provide education and support for the child and family, and ultimately to empower the developing adolescent to become independent in their daily diabetes management. DS adds additional challenges to this process (McVilly et al, 2014; Pikora et al, 2014).

The characteristics associated with DS need to be considered by the diabetes team when implementing insulin therapy. Cognitive development varies between individuals with DS, particularly with regards to language, processing language and verbal working memory (Silverman, 2007; Couzens et al, 2012). Additionally, Couzens et al (2012) suggested that long-term medical conditions affecting daily lives were associated with a negative impact on cognitive ability and development of the child with DS. The child in this case report is still very young and it is unclear how his cognitive development will progress. He currently attends a mainstream primary school and both parents have university level education; these two factors have been shown to be supportive of cognitive growth (Couzens et al, 2012).

Learning disability (LD) associated with DS may also affect the communication of common T1D symptoms such as thirst, headaches, blurred vision and mood change. These may not be well communicated, making it more difficult to monitor and manage the condition (Taggart et al, 2013). LD does not preclude common emotions, such as feeling different and self-conscious when monitoring glucose levels in front of others (Dysch et al, 2012; McVilly et al, 2014). This could be the reason why LD has also been associated with sub-optimal glycaemic control (Taggart et al, 2013). This may not always be the case, however. In contrast, Rohrer et al (2010) found individuals with DS and T1D achieved better HbA 1c and used less insulin than people with T1D without DS, despite their intellectual impairment. The authors speculated that this may be due to their simpler lifestyle and acceptance of routine. We should be mindful of these possibilities as the child develops.

Continuous glucose monitoring

The diabetes team opted to use continuous glucose monitoring (CGM) to overcome some of the issues of more challenging glycaemic control associated with LD. CGM is beneficial for children and young people (CYP) who have an impaired awareness of hypoglycaemia, or are unable to articulate symptoms of hypoglycaemia or hyperglycaemia, as was the situation with the  child in this case study (Danne et al, 2018). The internationally agreed target range for glucose levels is 3.9–10 mmol/L (Battelino et al, 2019) and CGM has been shown to improve “time in range”, regardless of the type of insulin therapy used.

The Dexcom G6 was chosen because it offers rtCGM and has been shown to increase time in range from 47.4% to 57.0% in children, when combined with a structured education programme (Pemberton et al, 2020). NICE (2015) recommends rtCGM with a hypoglycaemia alarm system for children with an inability to recognise and communicate the symptoms of hypoglycaemia. Puhr et al (2019) found the switch to Dexcom G6 with hypoglycaemia alarms reduced the time in hypoglycaemia by 40% for those with a hypoglycaemia threshold setting of 3.9 mmol/L, and by 33.3% for those with a threshold setting of 4.4 mmol/L. Pemberton et al (2020) report that the Dexcom G6 is currently the only device available in the UK which meets the Food and Drug Administration requirements for use in the ages 2–70 years, has four hypoglycaemia prevention alarms and does not require frequent finger-prick calibrations.

In the current case it was thought that, based on his age and current cognitive development, this child might not recognise and be able to communicate symptoms associated with low blood glucose levels (Taggart et al, 2013). The Dexcom G6 offers a solution to this and enables his parents to monitor real-time data, as well as reducing the frequency of finger-prick blood glucose tests. As with all children with T1D, DS does not reduce the perceived impact on daily life, and children with DS may still have a needle phobia (Pikora et al, 2014). His parents have found the ability to monitor his glucose levels throughout the day when he is at school reassuring. In addition, rtCGM allows overnight monitoring for nocturnal hypoglycaemia.

Fast-acting insulin

This child has a regular meal pattern and routine regarding his meal choices. Following discussions with his parents regarding meal patterns, a view was taken that although he tended to eat from a limited range of meals, the actual portion size of his meal varied and was often difficult to predict until during, or even after, the meal. The team decided that the most appropriate bolus insulin would be Fiasp, which has been shown to start acting 5 minutes earlier than insulin aspart (Heise et al, 2017; Russell-Jones et al, 2017; Shiramoto et al, 2018). The speed of onset offered the parents more flexibility at mealtimes to accommodate the fluctuating appetite of a five-year-old.

Diabetes education

The aim of education for CYP with T1D is to empower children and adolescents to manage their own diabetes according to their chosen management plan (Phelan et al, 2018). The same is true of education for children with special educational needs and LD (Dysch et al, 2012; McVilly et al, 2014). DS is associated with delays in overall cognitive development and language development (Finestack and Abbeduto, 2010; Quinn et al, 2020). As a team, we will need to adapt our style of education to reflect this child’s cognitive learning. This will involve working with the family to ensure that all diabetes-related education is unambiguous and to establish their  preferred style of communication.

Augmentative and alternative communication

As a team, we will need to consider different teaching strategies to help engage the child to participate in his own care as he gets older. One such strategy is augmentative and alternative communication (AAC). AAC is often used to support CYP with cognitive disabilities, including children with DS. Symbols are used to teach instructions and to communicate needs (Binger and Light, 2007; Finke et al, 2017; Quinn et al, 2020).

Multi-symbol messages and using symbols in different combinations can convey simple requests and tasks, such as “more milk” or “drink milk” (Binger and Light, 2007). AAC modelling (AAC-MOD) involves a combination of symbols while simultaneously modelling the spoken messages and is used to aid the child’s understanding of those messages (Quinn et al, 2020). AAC-MOD provides a method of communication to aid participation in daily routines.

Similarly, objects could be used as an alternative to symbols. Diabetes-related objects of reference could include an empty insulin pen with a symbol prior to receiving an injection, so the child understands what is about to happen. Symbols could then be used to create a schedule to help this child understand what he needs to do throughout  the day to manage his diabetes. These could be combined with a task schedule board. When a task is completed, it is removed from the schedule board. This can help remind a person which tasks have been completed and which are still to be done. At the time of writing, AAC-MOD had not yet been implemented in practice.

Children spend a significant proportion of their day at school, and maintaining glucose levels as near normal as possible is important in order to optimise their learning ability (Bratina et al, 2018). Schools in England should support children with medical conditions, so that they have full access to education (Department of Education, 2015). In pupils with medical conditions who have special education needs, this provision should be delivered in a coordinated way (Department of Education, Department of Health, 2015). Education, Health and Care Plans (EHCPs) are used to identify additional needs and are designed to increase collaboration between education, health and care teams (Boesley and Crane, 2018).

This child already had a comprehensive EHCP due to his pre-existing healthcare needs and has one-to-one support from a teaching assistant (TA) throughout the school day. This has enabled the school to accommodate his additional care needs as a result of diabetes. For example, his parents requested his insulin injections to be given in his classroom rather than in the school office, as had been the case with previous pupils with T1D. His mother describes him as stubborn and knew he could potentially refuse to go to the office. To minimise the negative associations with his diabetes, it was agreed his injections could be administered in the lobby area of his classroom. Due to the fact that this child had one-to-one support already in place through his existing EHCP, the school felt able to accommodate this and the additional medical care required as a result of his new diagnosis of T1D.

This child’s response to insulin injections varies and he will sometimes say “no, don’t hurt me” to his TA. To address concerns that his classmates might be distressed by this, parental permission was obtained for the Year 1 children to watch the BBC Get Well Soon episode “Learning more about diabetes”. This enabled the children to ask questions and was well received by the parents. His mother reports that he is comfortable engaging in his care in the classroom and his classmates appear happy to chat openly about it.

This child’s current primary school is working with his parents and healthcare team to tailor his support to meet his specific needs, and it has the resources to do so. As he progresses through secondary education, the healthcare team need to be cognizant that this may not always be the case. They  will need to continue to work collaboratively with future schools to ensure this tailored support can continue where practicable.

Future challenges

As a team we will need to develop our service and practice over the coming years to ensure this child has the support he needs to manage his diabetes. In the meantime, there is a paucity of studies about DS and the management of T1D, and McVilly et al (2014) suggest further research is needed to determine the type of support techniques and organisational support that are required to maximise active involvement by individuals with LD in the self-management of their diabetes. Whichever strategies are chosen, it will require ongoing collaboration, clear communication and coordinated planning between us, the healthcare team, his family, school staff and, at a later stage, the individual himself, to ensure he gains the support he needs and is empowered to manage his diabetes care as independently as possible.

Acknowledgement

The author would like to acknowledge Birmingham City University’s Children & Young Persons Diabetes Care Module.

Aitken R, Mehers K, Williams A et al (2013) Early-onset coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down Syndrome. Diabetes Care 36 : 1181–85 Battelino T, Danne T, Bergenstal R et al (2019) Clinical targets for continuous glucose monitoring data interpretation: Recommendations from the International Consensus on Time in Range. Diabetes Care 42 : 1593–1603 Bergholdt R, Eising S, Nerup J, Pociot F (2006) Increased prevalence of Down’s syndrome in individuals with type 1 diabetes in Denmark: A nationwide population-based study. Diabetologia 49 : 1179–1182 Binger C, Light J (2007) The effect of aided AAC modeling on the expression of multi-symbol messages by preschoolers who use AAC. Augment Altern Commun 23 : 30–43 Boesley L, Crane L (2018) Forget the Health and Care and just call them Education Plans’: SENCOs’ perspectives on Education, Health and Care plans. J Res Spec Educ Needs 18 : 36–47 Bratina N, Forsander G, Annan F et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: Management and support of children and adolescents with type 1 diabetes in school. Pediatr Diabetes 19 : 287–301 Couzens D, Haynes M and Cuskelly M (2012) Individual and environmental characteristics associated with cognitive development in Down Syndrome: A longitudinal study. J Appl Res Intellect Disabil 25 : 396–413 Danne T, Phillip M, Buckingham B et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: Insulin treatment in children and adolescents with diabetes. Pediatr Diabetes 19 : 115–35 Department of Education (2015) Supporting pupils at school with medical conditions: Statutory guidance for governing bodies of maintained schools and proprietors of academies in England . Available at: https://bit.ly/3uegTdc(acessed 04.05.21) Department of Education, Department of Health (2015) Special educational needs and disability code of practice 0 to 25 years: Statutory guidance for organisations which work with and support children and young people who have special educational needs or disabilities. Available at: https://bit.ly/3gZ7zWK (accessed 04.05.21) Dysch C, Chung M, Fox J (2012) How do people with intellectual disabilities and diabetes experience and perceive their illness? J Appl Res Intellect Disabil 25 : 39–49 Finke EH, Davis JM, Benedict M et al (2017) Effects of a least-to-most prompting procedure on multisymbol message production in children with autism spectrum disorder who use augmentative and alternative communication. Am J Speech Lang Pathol 26 : 81–98 Finestack LH, Abbeduto L (2010) Expressive language profiles of verbally expressive adolescents and young adults with Down syndrome or fragile X syndrome. J Speech Lang Hear Res 53 : 1334–8 Heise T, Pieber TR,  Danne T et al (2017) A pooled analysis of clinical pharmacology trials investigating the pharmacokinetic and pharmacodynamic characteristics of fast-acting insulin aspart in adults with type 1 diabetes. Clin Pharmacokinet 56 : 551–9 Lämmer C, Weimann E (2008) Early onset of type I diabetes mellitus, Hashimoto’s thyroiditis and celiac disease in a 7-yr-old boy with Down’s syndrome. Pediatr Diabetes 9 : 423–5 Lindström C, Aman J, Norberg AL (2011) Parental burnout in relation to sociodemographic, psychosocial and personality factors as well as disease duration and glycaemic control in children with type 1 diabetes mellitus. Acta Paediatr 100 : 1011–7 McVilly K, McGillivray J, Curtis A et al (2014) Diabetes in people with an intellectual disability: A systematic review of prevalence, incidence and impact. Diabet Med 31 : 897–904 NICE (2015) Diabetes (type 1 and type 2) in children and young people: Diagnosis and management . NICE, London [NG18]. Available from: https://www.nice.org.uk/NG18 (accessed 04.05.21) Pemberton J, Kershaw M, Dias R et al (2020) DYNAMIC: Dynamic glucose management strategies delivered through a structured education program improves time in range in a socioeconomically deprived cohort of children and young people with type 1 diabetes with a history of hypoglycemia. Pediatr Diabetes 22 : 249–60 Phelan H, Lange K, Cengiz E et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: Diabetes education in children and adolescents. Pediatr Diabetes 19 : 75–83 Pikora T, Bourke J, Bathgate K et al (2014) Health conditions and their impact among adolescents and young adults with Down Syndrome PloS One 9 : e96868 Puhr S, Derdzinski M, Welsh JB et al (2019) Real-world hypoglycemia avoidance with a continuous glucose monitoring system’s predictive low glucose alert. Diabetes Technol Ther 21 : 155–8 Quinn ED, Kaiser AP, Ledford JR (2020) Teaching preschoolers with Down Syndrome using Augmentative and Alternative Communication Modeling during small group dialog reading. Am J Speech Lang Pathol 29 : 80–100 Rohrer T, Hennes P, Thon A et al (2010) Down’s syndrome in diabetic patients aged <20 years: An analysis of metabolic status, glycaemic control and autoimmunity in comparison with type 1 diabetes. Diabetologia 53 : 1070–5 Russell-Jones D, Bode B, DeBlock C et al (2017) Fast-acting insulin aspart improves glycemic control in basal-bolus treatment for type 1 diabetes: Results of a 26-week multicenter, active-controlled, treat-to-target, randomized, parallel-group trial. Diabetes Care 40 : 943–50 Shiramoto M, Nishida T, Hansen AK, Haahr H (2018) Fast-acting insulin aspart in Japanese patients with type 1 diabetes: Faster onset, higher early exposure and greater early glucose-lowering effect relative to insulin aspart. J Diabetes Investig 9 : 303–10 Silverman W (2007) Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 13 : 228–36 Taggart L, Coates V, Truesdale-Kennedy M (2013) Management and quality indicators of diabetes mellitus in people with intellectual disabilities. J Intellect Disabil Res 57 : 1152–63

Do youth workers have a role in improving diabetes transition services?

Cgm for children and young people with type 1 diabetes: nice criteria and effects of decision fatigue and alarm fatigue  , improving paediatric diabetes in england: areas of focus, delays in accessing continuous glucose monitoring in people with type 1 diabetes, celebrating may ng: the woman behind the obe, fiona campbell awarded an obe for services to paediatric diabetes, diabetes transition: a time to act.

Can the involvement of youth workers improve diabetes care for young people transitioning to adult diabetes services?

The impact of decision fatigue and alarm fatigue in children and young people using continuous glucose monitoring

NHSEI National Clinical Lead for Diabetes in Children and Young People, Fulya Mehta, outlines the areas of focus for improving paediatric diabetes care.

16 Nov 2022

NICE guidance urges local trusts to improve processes and advocate for CGM use in children and young people.

Sign up to all DiabetesontheNet journals

• CPD Learning
• Diabetes & Primary Care
• Journal of Diabetes Nursing
• The Diabetic Foot Journal
• Diabetes Digest

Useful information

• Terms and conditions
• Privacy policy
• Editorial policies and ethics

By clicking ‘Subscribe’, you are agreeing that DiabetesontheNet.com are able to email you periodic newsletters. You may unsubscribe from these at any time. Your info is safe with us and we will never sell or trade your details. For information please review our Privacy Policy .

Are you a healthcare professional?  This website is for healthcare professionals only. To continue, please confirm that you are a healthcare professional below.

We use cookies  responsibly to ensure that we give you the best experience on our website. If you continue without changing your browser settings, we’ll assume that you are happy to receive all cookies on this website.  Read about how we use cookies .

• Clinical Ethics Services
• Ethical AI Services
• Custom Workshops
• Medical Student Education
• In the News
• Impact Videos and Stories
• Frequently Asked Questions
• Policies, Disclosures and Reports

Case Study – What Should We Do? DNR for an Adult with Down Syndrome

Print this case study here: Case Study of George

The Case of George: DNR for an Adult with Down Syndrome Case Study: What Should We Do?

Bioethics Forum, Summer 1999 By Rosemary Flanigan

George is a twenty-three-year-old young man with Down’s syndrome.

Until three years ago, he lived at home with his parents and had a part-time job washing dishes at a restaurant. When George turned twenty, he and his parents decided that living in a group home would be a good experience for him and he entered into his new life enthusiastically. George and his parents have a good relationship and they have always encouraged him to be prudently independent. George has often brought his good friend, Stan, home for supper. They both live at the home for developmentally disabled young men, and his parents are happy that he has found a friend.

But one Saturday, George and Stan were waiting for a bus and during some horseplay, Stan accidentally pushed George too hard, and he fell in front of the bus. He suffers from severe brain injury, has no swallowing reflex and has had a feeding tube placed. A year has passed. The parents visit George each day at the rehabilitation hospital, but he has shown no signs of consciousness. Stan is devastated by George’s condition and the parents permit him to visit once a week, although the young man would prefer to be there every day.

The doctor has requested a Do Not Resuscitate Order for George and the parents have signed it although they are not legally declared his guardians. But now they are talking to the doctor about removing the feeding tube. It is not instrumental in restoring him to any quality of life and they realize that it would be better that George simply be allowed to die.

George and his parents live in a state that requires “clear and convincing evidence” for withholding/withdrawing nutrition and hydration, and they are feeling hard pressed to provide such evidence. They have not talked with George about dying; in the beginning, it was not relevant; now they wish they had helped him make his advance directive. Even if they have themselves declared his guardian, they live in a state that does not permit guardians to withhold or withdraw life-sustaining treatment.

They ask you for advice.

• The conflict in this case is between law and ethics. Address first what is the ethical thing to do here.
• Is it ethically appropriate to remove the feeding tube? What is your argument?
• Should the parents ask Stan and the other boys at the group home if George has ever expressed an opinion about end-of-life?
• Is the ideal here that the parents use a substituted judgment or a best interest judgment?

(Substituted judgment is one in which the surrogate or proxy decision maker can speak the judgments previously articulated by the patient; best interest judgment is one in which decision makers do not know the patient’s wishes but choose to do what reasonable people would decide under like circumstance or in similar positions.)

• Distinguish between competency and decisional capacity. Even if George has been declared incompetent, could he still have decisional capacity to make out an advance directive?
• What kind of ethical reasoning are you using-virtue, principles, consequences?
• If the Disabled Advisory Group for Brain Injury protests your position, can you defend it?

Longevity of a woman with Down syndrome: a case study

Affiliation.

• 1 Adult Down Syndrome Center of Lutheran General Hospital, Glenview, IL 60025, USA. [email protected]
• PMID: 9425879
• DOI: 10.1352/0047-6765(1997)035<0477:LOAWWD>2.0.CO;2

A case of a woman who is among the longest surviving people with Down syndrome was described. The life expectancy of persons with Down syndrome has increased more than six-fold to 56 years since the turn of the century. The literature regarding life expectancy for persons with Down syndrome was reviewed, and the implications regarding Down syndrome and Alzheimer's disease were discussed.

Publication types

• Case Reports
• Research Support, Non-U.S. Gov't
• Aged, 80 and over
• Down Syndrome*

Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records

Apr 22, 2024, 2:52 AM

Nguyen, T. Q., Kerley, C. I., Key, A. P., Maxwell-Horn, A. C., Wells, Q. S., Neul, J. L., Cutting, L. E., & Landman, B. A. (2024). Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records. Journal of Intellectual Disability Research. https://doi.org/10.1111/JIR.13124

A comprehensive two-part study utilizing electronic medical records from Vanderbilt University Medical Center investigated health conditions in individuals with Down syndrome (DS), particularly those with congenital heart disease (CHD). The first part of the study examined a large cohort of DS individuals, revealing a higher prevalence of specific health issues such as heart failure, pulmonary heart disease, and hypothyroidism compared to controls and those with other intellectual and developmental disabilities. The second part focused on DS patients with CHD, identifying conditions like congestive heart failure and valvular heart disease that increased the likelihood of surgical interventions. These findings highlight the complex health profiles of individuals with DS, suggesting the need for tailored medical approaches to better manage their multiple health challenges.

Explore Story Topics

• development
• electronic health records

• Workshop Details
• Introduction
• Research Tips

The Twins' Case Study

• Welcome to your patients!
• Researching the referral
• Understanding the genetic test results
• Learning about the identified variant
• Learning about the implicated gene
• Mapping the variant
• Putting it all together...
• What is wrong with your patients?

Take-away message!

• Welcome to your patient!
• What is wrong with your patient?
• Exercise 2 - An advanced practice case

Welcome to your Patients!

Researching the referral.

• To learn more about the proposed diagnosis, search MedGen ( https://www.ncbi.nlm.nih.gov/medgen/ ) with: 

• Genetic tests are decreasing in cost & are not particularly invasive.
• A well-known genetic lesion can sometimes help in diagnosis and/or drug/therapy selection -  may  provide actionable information.
• A finding  may  predict disorders before symptoms begin for proactive & preventative care.
• We are early in our understanding of genes, gene variants and disease:   Failure to detect a pathogenic variant  does not rule out  the diagnosis.
• Prediction isn’t guaranteed - as pathogenic variants sometimes do not have consistent phenotypic impact in all patients  (penetrance, severity, multi-genic & environmental influences).
• Lack of coverage by  some  insurance companies…

Finding a Genetic Test and Understanding the Results

• From the MedGen record , in the Genetic Testing Registry section on the right – click (See all) to retrieve a list of relevant tests.

Validating the Genetic Test Results and Learning More About the Variant(s)

• To validate what is asserted by this clinical testing laboratory, search NCBI’s ClinVar database  ( https://www.ncbi.nlm.nih.gov/clinvar/ ) with :    

Finding Patient Education Materials to Share

• To assist you further in learning about this disorder and for preparation for discussions with your patient, there are additional  MedGen links  to:
• PubMed – retrieves all relevant publications about this disorder.
• PubMed Clinical Queries – quick ways to pull up categories of recent publications.
• ClinicalTrials.gov – to see if any are currently enrolling participants.
• Professional literature such as a  the full GeneReviews Chapter on the  NCBI Bookshelf ,  OMIM  or one of the  Reviews in PubMed .
• For a more lay audience, you can find information in MedlinePlus   or  MedlinePlus Genetics (GHR)  or  NIH's NCATS Genetic and Rare Diseases Information Center

Learning About the Implicated Gene

• On the MedGen or ClinVar record , click the link for the Gene Symbol identified as having variants in the twins.
• The Gene Ontology (GO) Consortium 's mission is to build a comprehensive, human-readable and computable, hierarchical knowledgebase for the molecular functions, cellular locations, and processes that gene products (usually proteins) carry out.

• Scroll down to the Gene record's “Expression” section to see in which tissues this gene has been observed to be expressed.

Mapping and Understanding the Impact of the Variant(s)

So, you now know information about what the "wild-type" or non-variant-containing gene product does and where.  How might your patient's variant impact ths gene and it's product?  First, it depends upon where the variant is located and then it depends upon it's impact in that location.

• Genome/Chromosome:  First, let's map where that particular gene is within the chromosome.
• On the right-hand side of the RefSeqGene page, can click the “Protein” link or go back to the Gene record and click the “RefSeq Proteins” link . Click “Graphics” to see a graphical view of the annotated regions curated on the protein sequence. The information shown in in these “tracks” of this view can help you to learn more about this protein.

Take a look at the annotations shown in the Graphic view.  Based on where it the variant(s) is/are located, which might the variant(s) alter:

• the protein’s location (signal peptide)
• post-translational processing of the protein (cleavage site)
• post-translational modification of the protein (phosphorylation or methylation site, for example)
• the functional activity of the protein (domain, motif, and/or specific site/“key” residue – binding, active site, catalysis, for example )
• to learn more about the main functional regions of the protein click “Identify Conserved Domains”.

To make things easier for you right now…. here’s a picture of the 3D crystal structure monomer of the Human SPR protein complex (PDB accession: 4Z3K) as displayed in

What do you think the change in amino acids might do to the 3D structure and function of the protein? (I’ve given you some information in the box below….)

• Now, to understand the role of the SPR protein in physiology , go back to the Gene record and scroll down to the Pathways from PubChem section - in which Metabolic Pathways does this protein participate?

What is wrong with your patient(s)?

• "What is wrong with them?"
• "Are we sure this is the right diagnosis this time?"
• "What do we do now?"
• what is it's biomolecular function?
• what is it's impact on cellular physiology? 
• in which cells/tissues is the gene product usually expressed?
• what do you think this would do to the gene product's structure and biomolecular function?
• what would this do to cellular physiology?
• what tissues or organs impact be impacted?
• Based on the proposed impacted-tissues/organs, may some of the the patient's symptoms be explained by this?  (validating his experience)
• What is his specific disorder or condition?  (Final diagnosis)
• How do you know this is the correct diagnosis? (Take everything into account, - clinical features, lab and genetic test results, as well as response to any previous therapies.) 
• What can you do with the knowledge of the precise genetic lesion that causes this disorder?  (Think about your next steps in case management planning.)

Last Reviewed: May 2, 2023

The fishy death of Red Lobster

Endless Shrimp didn't sink the seafood chain. Wall Street did.

With the chain on the verge of bankruptcy, it has become abundantly clear that Red Lobster letting customers eat all the shrimp their hearts desire was not a great business idea . It's also not the reason the restaurant is in a deep financial mess .

In mid-April, Bloomberg reported the debt-laden seafood chain and home of beloved cheddar biscuits was considering filing for Chapter 11 bankruptcy protection. Red Lobster is being bogged down by increased labor costs and expensive leases on its restaurants. Some observers were quick to blame the financial woes on its decision last year to make its "Endless Shrimp" promotion, which used to be an occasional, limited-time offering, permanent. The move was not a smart one. While Red Lobster increased traffic somewhat, people coming in to chow down on all-you-can-eat shrimp was a money bleeder. The company blamed Endless Shrimp for its $11 million losses in the third quarter of 2023, and in the fourth quarter, the picture got even worse, with the restaurant chain seeing $12.5 million in operating losses.

But the story about what's gone wrong with Red Lobster is much more complicated than a bunch of stoners pigging out on shrimp (and, later, lobster ) en masse. The brand has been plagued by various problems — waning customer interest, constant leadership turnover, and, as has become a common tale, private equity's meddling in the business.

"If anything, the Endless Shrimp deals are probably as much a symbol of just either desperation or poor management or both," Jonathan Maze, the editor in chief of Restaurant Business Magazine, said.

Red Lobster first opened in Lakeland, Florida, in 1968 and was acquired by the food conglomerate General Mills in 1970. General Mills then spun the chain off in 1995 along with the rest of its restaurant division, which also included Olive Garden, as Darden Restaurants. In 2014, amid flagging sales and pressure from investors, Darden sold Red Lobster for $2.1 billion to Golden Gate Capital, a San Francisco private-equity firm.

If anything, the Endless Shrimp deals are probably as much a symbol of just either desperation or poor management or both.

To raise enough cash to make the deal happen, Golden Gate sold off Red Lobster's real estate to another entity — in this case, a company called American Realty Capital Properties — and then immediately leased the restaurants back. The next year, Red Lobster bought back some sites, but many of its restaurants were suddenly strapped with added rent expenses. Even if Darden had kept Red Lobster, it's not clear it would have taken a different route: A press release from the time says it had contacted buyers to explore such a transaction. But in Maze's view, the sale of the real estate was sort of an original sin for Red Lobster's current troubles. He compared it to throwing out a spare parachute — chances are, you'll be OK, but if the first parachute fails, you're in deep trouble.

"The thing that private equity does is just unload assets and monetize assets. And so they effectively paid for the purchase of Red Lobster by selling the real estate," he said. "It'll probably be fine, generally, but there's going to come a time in which your sales fall, your profitability is challenged, and your debt looks too bad, and then suddenly those leases are going to look awfully ugly."

That time, according to recent reporting, is now. With struggling sales and operational losses, the leases are an added headache that is helping push the company to the brink, though bankruptcy may help Red Lobster get some wiggle room on them.

Eileen Appelbaum, a codirector of the Center for Economic and Policy Research, a progressive think tank, and a longtime private-equity critic, said in 2014 that private equity wouldn't be the solution to Red Lobster's ills. She isn't surprised about how this is all turning out.

"Once they sell the real estate, then the private-equity company is golden, and they've made their money back and probably more than what they paid," she said, noting that this was a common theme in other restaurants and retailers and adding: "The retail apocalypse is all about having your real estate sold out from under you so that you have to pay the rent in good times and in bad."

After the real estate move, Golden Gate sold 25% of the company in 2016 to Thai Union, a Thailand seafood company, for $575 million and unloaded the rest of the company to an investor group called the Seafood Alliance, of which Thai Union was a part, in 2020. Golden Gate likely came out ahead, but the same can't be said for Thai Union, which also controls the Chicken of the Sea brand. It is now looking to get out of its stake in Red Lobster and took a one-time charge of $530 million on its investment in the fourth quarter of last year. In 2021, Red Lobster refinanced its debt, with one of its new lenders being Fortress Investment Group, an investment-management group and private-equity firm. According to Bloomberg, it's one of the "key lenders" involved in debt negotiations now.

Beyond the pandemic-related troubles that hit restaurants across the country , analysts and experts say that Red Lobster's particular problems are attributable to a mix of poor brand positioning and unstable leadership. The seafood-restaurant business is a tough one in the US, and people who are hankering for lobster or fish are increasingly going to steak houses that offer those options, said Darren Tristano, the CEO and founder of Foodservice Results, a food-industry consultancy.

"What's truly happened with Red Lobster is that the consumer base has changed and Red Lobster hasn't," he said. "Red Lobster isn't losing to a competitor in their space — they're losing to competitors outside their space."

John Gordon, a restaurant analyst in San Diego, said Red Lobster had been on the decline for 20 years but that it didn't "fall on the knife" until Thai Union got it. "They were totally unprepared to hold a casual-dining restaurant," he said. Kim Lopdrup, Red Lobster's longtime CEO, retired in 2021, and since then, the restaurant hasn't had much in the way of stable leadership. His successor resigned after only a matter of months, and the role remained vacant for more than a year before someone else was appointed. He's left, too, and now Jonathan Tibus, an expert in restructuring, is at the helm.

"One of the problems is that Thai Union just had no credibility in terms of recruiting a new CEO," Gordon said.

Essentially, Red Lobster finds itself in a landscape where there just aren't a lot of bright spots. Add on the weight of the debt and lease obligations the company's private-equity owners saddled the brand with, and a turnaround becomes a gargantuan task.

"It's hard to blame leadership when you have a problem that is unsolvable — I mean, getting the consumer back in the door, increasing traffic. All-you-can-eat shrimp can only do so much," Tristano said.

Red Lobster did not respond to a request for comment for this story. Golden Gate declined to comment. Thai Union pointed to a press release about its intention to exit its investment and said it didn't wish to comment further.

One bad promotion should not doom a restaurant chain like that.

As to what drove Red Lobster to the edge, it's clear that despite not being a very good idea, the blame doesn't fall on Endless Shrimp. Years of changing tastes, tough industry conditions, and poor brand management all contributed to the chain's difficult position. But plenty of other restaurants have faced similar issues and aren't on the verge of bankruptcy. What separates Red Lobster is a decade of private-equity and investor tampering. Pinging from owner to owner makes it hard to settle on a turnaround vision. The company faces challenges that necessitate a long-term view that requires patience — the kind that the short-term-focused Wall Street often struggles to tackle. Whether Red Lobster can turn it around from here remains to be seen: Even if it files for bankruptcy protection, the chain may not disappear. Plenty of companies go bankrupt and keep on keeping on.

"You've got to at least be able to pay your bills, and what's happened over the last five years is the cost of operating a restaurant has taken off," Maze said. "One bad promotion should not doom a restaurant chain like that."

Emily Stewart is a senior correspondent at Business Insider, writing about business and the economy.

About Discourse Stories

Through our Discourse journalism, Business Insider seeks to explore and illuminate the day’s most fascinating issues and ideas. Our writers provide thought-provoking perspectives, informed by analysis, reporting, and expertise. Read more Discourse stories here .

Related stories

More from Retail

Most popular

• Main content

Type your tag names separated by a space and hit enter

Anesthetic Management of a Patient With Eagle's Syndrome: A Case Study. AANA J . 2023 Aug; 91(4):298-302. AJ

Eagle's syndrome is a condition characterized by elongation of the styloid process or calcification of the styloid ligament that can manifest as a constellation of symptoms including dysphagia, globus sensation, hoarseness, headache, and neck pain. Anatomically, this can impinge neurovascular structures, distort the hypopharynx, and stiffen the epiglottis and other pharyngeal structures, increasing the difficulty of airway management. The objective of this case study was to discuss the features of Eagle's syndrome and anesthetic considerations in the management of the condition. Intubation may be challenging and presents a scenario where a glidescope is the preferred tool over direct laryngoscopy. Smooth emergence and extubation strategies, including the novel use of lidocaine and dexmedetomidine, are followed to minimize the risk of surgical complications.

Authors +Show Affiliations

Pub type(s).

• Temporal Bone
• Ossification, Heterotopic
• Anesthetics

Related Citations

• Classic Eagle's Syndrome: Styloidectomy via the Transcervical Approach.
• [Elongated styloid process (Eagle's syndrome): literature review and a case report].
• The Syndrome of Elongated Styloid Process, the Eagle's Syndrome-From Anatomical, Evolutionary and Embryological Backgrounds to 3D Printing and Personalized Surgery Planning. Report of Five Cases.
• Transcervical styloidectomy in Eagle's syndrome.
• Eagle's syndrome - A report of two cases.
• Surgical Management of Stylohyoid Pain (Eagle's) Syndrome: A 5-Year Experience.
• [Eagle's syndrome--report of rare case of bilateral elongation of styloid proceses].
• Eagle's Syndrome, from clinical presentation to diagnosis and surgical treatment: a case report.
• Cervicofacial pain associated with Eagle's syndrome misdiagnosed as trigeminal neuralgia.
• 3D navigation in surgery of Eagle syndrome.