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13 YEARS TO 21 YEARS

During regular wellness visits, it is important to discuss nutrition, diet planning and exercise programs. Be sure to perform a physical exam, review past and current health conditions/medication, and update past lab requisitions. These factors contribute to the quality of life of people with Down syndrome and can affect other systems (e.g., sleep). Continue to monitor behavioural and mental health issues, and ensure that

rapport is developed with family members. Support the transition process by helping families find resources addressing financial planning and employment, guardianship, vocational training and post-secondary education, independent living or group homes, and by addressing sexual health and adult healthcare.

GUIDELINES

RESOURCES

Developmental Disability Mental Health Services

Growth Charts

Physical and Occupational Therapy

Speech-Language Pathology

Transition planning

FORMS

Assessment Checklist - 13 Years to 21 Years
Assessment Form - 13 Years to 21 Years
Health Care Guidelines - Adults 18+
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Heart

Acquired valvular abnormalities (high risk of mitral valve prolapse and aortic regurgitation)

Assessment: Detailed history and examination annually, monitoring for the development of acquired mitral/aortic valvular disease in older patients.

Recommended: Request echocardiogram if there are symptoms/signs of valvular insufficiency.

Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

Other malformations: digestive, urinary respiratory tract, muscular skeletal.

Hearing

Hearing Loss (Prevalence ~70%)

Recommended: Obtain ear-specific audiologic evaluation every year.

The role of bone anchored hearing aids in children with Down syndrome 

ENT and Speech Disorders in Children with Down’s Syndrome: an Overview of Pathophysiology, Clinical Features, Treatments, and Current Management 

Revisiting Down syndrome from the ENT perspective: review of literature and recommendations

Infections and immunodeficiency in Down syndrome

Frequent infections due to primary (T&B cells), secondary (nutritional, lifestyle) and anatomical (e.g. upper respiratory tract) abnormalities.

Vision

Vision problems (Prevalence ~60% individuals with DS)

Recommended: Obtain ophthalmologic evaluation every 3 years. Check for onset of cataracts, refractive errors, and keratoconus (blurred vision, corneal haze and thinning).

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Triennial Evaluation for Cataracts Onset, Refractive Errors, and Keratoconus

Thyroid

Thyroid Disease  (Prevalence ~4-18% in individuals with DS)

Assessment: History & examination looking for symptoms/signs of thyroid dysfunction. Note that the risk of thyroid dysfunction increases with age.

Recommended: Thyroid function tests (TSH, fT4) annually.

Precocious puberty in juvenile hypothyroidism

Endocrine Manifestations of Down Syndrome

Thyroid disorders in subjects with Down syndrome: an update

Congenital hypothyreosis can manifest beyond newborn period; Treatment of subclinical hypothyreosis (hyperthyreotropinemia) is discussed controversially, but can be first manifestation of thyroid autoimmunity.

Stomach/Bowel

Celiac Disease (Prevalence ~5-16% for individuals with DS)

Assessment: History and examination looking for symptoms/signs of PNS/CNS dysfunction (constipation) and symptoms related to celiac disease.

Recommended: If symptoms are present, obtain tissue transglutaminase IgA level and quantitative IgA for further assessment. Referral to specialist for abnormal lab results.

Monitoring gluten-free diet in coeliac patients with Down’s syndrome

Feeding problems and gastrointestinal diseases in Down syndrome

Feeding, swallowing, digestive problems can be due to: anatomical malformations; infectious/ immunological problems (H-Pylori, colitis, hepatitis), functional (sucking, swallowing, chewing, reflux).

Development, Cognition, Neurological

Assessment: Monitor for signs of neurologic dysfunction, as there is an increased risk of seizures and neurodegenerative diseases (e.g., Alzheimer’s disease) with age.

Cognitive control of movement in down syndrome 

Inhibitory mechanisms in Down syndrome: Is there a specific or general deficit?

Down Syndrome and Epilepsy 

Cognitive deficits and associated neurological complications in individuals with Down’s syndrome

Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan

Neurological phenotypes for Down syndrome across the life span

Neuroimaging assessment in Down syndrome: a pictorial review

Non-verbal skills and memory are strengths compared to verbal skills. Attention and executive functions get worse with age. Emotional and behavioural deterioration associated with neurodegeneration/dementia in adulthood.

Blood

Assessment: History and examination looking for signs of leukemia (particularly in patients who had transient myeloproliferative disorder) & anemia.

Recommended: Measure hemoglobin, ferritin, & CRP annually.

Infections and immunodeficiency in Down syndrome 

Infections and immunodeficiency in Down syndrome

The Biology, Pathogenesis and Clinical Aspects of Acute Lymphoblastic Leukemia in Children with Down Syndrome

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

High incidence of lymphoblastic/myeloblastic leukemia in infancy/childhood; low incidence of solid tumors. Transient myeloproliferative disease in infants. T&B cell abnormalities.

Genetics

Down syndrome occurs when an individual has a full, or partial, extra copy of chromosome 21. There are three different forms of Down syndrome depending on the way how the extra copy of chromosome 21 presents: Trisomy 21, Mosaicism, Translocation.

Trisomy 21

Mosaicism

Translocation

Underlying Pathophysiology

Genetic Counselling

Chromosome 21, Trisomy 21, Karyotype, Non-disjunction, Mosaic, Mosaicism, Robertsonian, Translocation, Genetic Counselling

Sleep Issues

Obstructive Sleep Apnea (Prevalence 30-75% children with DS)

Assessment: Discuss sleep problems and their symptoms/signs: mouth breathing, heavy breathing, snoring, apneic pauses, uncommon sleep positions with reclined head, frequent night awakenings, & daytime sleepiness. Note that obstructive sleep apnea (OSA) is at the higher end of the sleep disordered breathing spectrum. Discuss obesity as a risk factor.

Clinical best practice: Behaviour problems associated with poor sleep are usually secondary and not primary.

Recommended: Refer to a sleep specialist and request a polysomnography as needed.

A review of the nature and treatment of sleep disorders in individuals with developmental disabilities  

Screening for Obstructive Sleep Apnea in Children with Down Syndrome

The restless legs syndrome

Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome

Relationship between Sleep Disturbance and Functional Outcomes in Daily Life Habits of Children with Down Syndrome

Effect of Body Position and Sleep State on Obstructive Sleep Apnea Severity in Children with Down Syndrome

Diagnosis and management of restless legs syndrome in children

Brief report: Parental descriptions of sleep problems in children with autism, Down syndrome, and Prader–Willi syndrome

Adolescents and Young Adults With Down Syndrome Presenting to a Medical Clinic With Depression: Co-Morbid Obstructive Sleep Apnea

High Prevalence of Sleep Disorders and Associated Comorbidities in a Community Sample of Children with Down Syndrome

Sleep patterns and behaviour in typically developing children and children with autism, Down syndrome, Prader-Willi syndrome and intellectual disability

Sleep problems in children and young adults with developmental disabilities: home-based functional assessment and treatment

The impact of sleep disruption on executive function in Down syndrome

Obstructive sleep apnea in patients with Down syndrome: current perspectives 

Obstructive sleep apnea can cause cognitive/ behavioural deterioration; untreated sleep apnea causes cardiovascular morbidities.

Musculoskeletal

Atlantoaxial instability (Prevalence 1-2% for individuals with DS)

Assessment: Detailed history and examination looking for myelopathic signs related to spinal cord impingement, which may be caused by atlantoaxial instability. Children with significant neck pain, radicular pain, weakness, spasticity or change in tone, gait difficulties, hyperreflexia, change in bowel or bladder function must undergo plain cervical spine radiography.

Recommended: Immediate referral to a pediatric neurosurgeon or orthopedic surgeon if abnormalities present; consider treatment of atlantoaxial instability. Stable positioning during anesthetic, surgical, and radiographic procedures to minimize the risk of spinal cord injury. Discuss with parents the increased risk of spinal cord injury during some sporting activities.

Fine motor and self-care milestones for individuals with Down syndrome using a Retrospective Chart Review

Total hip arthroplasty to treat congenital musculoskeletal abnormalities in the juvenile Down Syndrome hip: review of literature with case

Assess for Myopathy

Immunization

Recommended: In addition to routine vaccinations, children with DS should also receive the annual influenza vaccine.

Immunisation Protecting People with Down’s Syndrome Against Infection

Dental

Recommended: Dental exam every 6 months. Referral to orthodontist if needed.

Dental Care for Patient with Down Syndrome 

Down Syndrome Review for Dental professionals

The impact of periodontal disease on the quality of life of individuals with Down syndrome

Down Syndrome and Periodontal Disease

Growth

Reduced growth rate; Obesity (higher prevalence in those with DS compared to those without)

Assessment: Monitor growth (determine BMI, weight, and height trends) using standard growth charts from the National Center for Health Statistics or WHO. Assess family and intra-familial relationship status at the annual family visit.  

Recommended: Encourage exercise and a balanced diet; discuss supplements (e.g. adequate calcium, vitamin D, iron and others). Refer to dietician as needed.

Effectiveness of exercise intervention on improving fundamental movement skills and motor coordination in overweight/obese children and adolescents: A systematic review 

Supporting a happy, healthy adolescence for young people with Down syndrome and other intellectual disabilities: recommendations for clinicians

Growth Charts for Children With Down Syndrome in the United States

Overweight and obesity in children and adolescents with Down syndrome—prevalence, determinants, consequences, and interventions: A literature review  

Dose–response relationship between intensity of exercise and cognitive performance in individuals with Down syndrome: a preliminary study

Growth Curves in Down Syndrome: Implications for Clinical Practice

Impact of obesity and Down syndrome on peak heart rate and aerobic capacity in youth and adults

Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome

Down Syndrome- Genetic and Nutritional Aspects of Accompanying Disorders

Nutritional status of intellectual disabled persons with Down syndrome

Understanding the causes of obesity in children with trisomy 21: hyperphagia vs physical inactivity

Fat and lean masses in youths with Down syndrome: Gender differences

Obesity in adolescents with intellectual disability: Prevalence and associated characteristics

The role of fatness on physical fitness in adolescents with and without Down syndrome: The UP&DOWN study

Effect of Zinc Supplementation on Thyroid Hormone Metabolism of Adolescents with Down Syndrome

Child-Feeding Practices in Children with Down Syndrome and Their Siblings

Nutrient intake and obesity in prepubescent children with Down syndrome

Zinc Nutritional Status in Adolescents with Down Syndrome

Growth & Wellbeing

Behaviour & Mental Health

Evaluate for medical problems that may underlie behaviour changes, e.g., thyroid abnormalities, celiac disease, sleep apnea, gastroesophageal reflux and constipation. There is an increasing risk of Alzheimer’s disease and neurodegeneration with age; monitor changes in typical behavioural and social states. Regression (eg. intellectual, behavioural or neurological deterioration) is not always an onset of dementia, rather it is important to evaluate for treatable medical problems that may underly regression. For more information on behavioural changes and mental health, please click the links below.

Refer for specialized evaluation and intervention for chronic behavioural problems or acute deterioration in function

Catatonia in Down Syndrome: Systematic Approach to Diagnosis, Treatment and Outcome Assessment Based on a Case Series of Seven Patients

Effectiveness of exercise intervention on improving fundamental movement skills and motor coordination in overweight/obese children and adolescents: A systematic review

Depression in Down Syndrome: A review of the literature

Catatonia Among Adolescents With Down Syndrome: A Review and 2 Case Reports

Catatonia in Down syndrome; a treatable cause of regression

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome

Rapid Clinical Deterioration in an Individual With Down Syndrome

Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome

The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone

Cultural Issues in Diagnosis and Treatment of ADHD

Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities

Strategies to address challenging behaviour in young children with Down syndrome

Symptoms of Attention-Deficit:Hyperactivity Disorder in Down Syndrome: Effects of the Dopamine Receptor D4 Gene

Non-verbal skills and memory are strengths compared to verbal skills. Attention and executive functions get worse with age. Emotional and behavioural deterioration associated with neurodegeneration/dementia in adulthood.

Skin

Atopic Dermatitis, Xerosis (More common in DS compared to individuals without DS)

Assessment: History and examination for symptoms/signs of skin conditions.

Recommended: Discuss dermatologic issues as well as practices for hygiene and self-maintenance with the patient and their caregiver(s).

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General Skin, Hair, Scalp Care

Sexuality, Puberty and Gynecologic Care

Help prepare to face changes and discuss appropriate management of sexual behaviours (e.g. masturbation). Give guidance on healthy, normal, and typical sexual development/ behaviours; encourage opportunities for advancing comprehension of sexuality. Provide guidance on sexual abuse, STD prevention, hygiene independence, and contraception; advocate for the least invasive and permanent method of birth control. Discuss with family and evaluate for sexual exploitation/abuse and domestic violence. For women, perform routine gynecologic exams and monitor premenstrual/menstrual behaviour problems.

Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion 

Sex and Genes, Part 1: Sexuality and Down, Prader–Willi, and Williams Syndromes

Menarche, menstruation, sexual relations and contraception of adolescent females with Down syndrome

Genetic causes of male infertility

Sexuality Issues and Gynecologic Care of Adolescents with Developmental Disabilities

Endocrine Manifestations of Down Syndrome

Sexual Development, STD Prevention, Contraceptive Issues, Fertility

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