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5 YEARS TO 13 YEARS

As children become older and move to school age, assess and monitor for behaviour and mental health issues at regular wellness visits; be sure to update past lab requisitions. In addition, review points such as socialization and making friends, recreation, school placement, responsibilities, self-help and sexual health. Quality of

life should be discussed in the context of their lifestyle. When transitions are being discussed, like changing schools or other life events, the process and planning should be done well in advance of their milestones.

GUIDELINES

RESOURCES

Behavioural Support

Developmental Disability Mental Health Services

Growth Charts

Physical and Occupational Therapy

Social Support (parent support groups, counselling)

Speech-Language Pathology

Transition planning

FORMS

Assessment Checklist - 5 Years to 13 Years
Assessment Form - 5 Years to 13 Years
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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.

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

Pulmonary Complications of Down Syndrome during Childhood

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 impairment (Prevalence 38-78% individuals with DS)

Recommended: Obtain ear specific audiologic evaluation every year.

Hearing loss 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 2 years.

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Biennial Evaluation

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 with congenital hypothyroidism 

Primary Hypothyroidism with Precocious Puberty and Bilateral Cystic Ovaries

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: Review symptoms/signs of PNS/CNS dysfunction and those related to celiac disease including diarrhea/protracted constipation, abdominal pain, slow growth, failure to thrive, or anemia.

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

High frequency of celiac disease in Down syndrome

A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down Syndrome in New York State

Down Syndrome Is Associated with Elevated Risk of Celiac Disease: A Nationwide Case-Control Study

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

Epilepsy (prevalence ~22% of children with DS)

Assessment: Detailed history for symptoms/signs of neurologic dysfunction and seizures; EEG if seizure activity reported. 

Recommended: Referral to neurologist if seizures have been reported.

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

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

Executive function in Williams and Down syndromes

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

Acute Lymphoblastic Leukemia (Increased incidence in children with DS compared to those without)

Assessment: History and examination looking for symptoms/signs of ALL and/or anemia.

Recommended: Obtain Hemoglobin, serum 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 pediatric sleep specialist and request a polysomnography as needed.

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

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

Diagnosis and management of restless legs syndrome in children

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

Relationship between Sleep Disturbance and Functional Outcomes in Daily Life Habits 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

Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome

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

Sleep characteristics in children with Down syndrome

Sleep Profiles in Children with Down Syndrome

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

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/ Cervical Spine Positioning

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.

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

Myopathy, Spinal Cord Injury

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

Delayed Dental Eruption & Hypodontia (prevalence 23% of individuals with DS)

Assessment: Reassure parents of delayed and irregular dental eruption. Hypodontia occurs frequently with DS.

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

Growth & Wellbeing

Behavioural Management

Autism (Prevalence ~7% children with DS)

Assessment: Monitor behavioural problems interfering with function (home, community, or school). Assess for behaviours like ADHD, obsessive compulsive, noncompliance, wandering off; psychiatric disorders may be present. Evaluate for medical problems that may underlie behaviour changes, e.g., thyroid abnormalities, celiac disease, sleep apnea, gastroesophageal reflux, and constipation.

Recommended: Refer to community treatment programs, psychosocial service consultations and behavioural specialists as necessary. Discuss the use of medications for behaviour management between specialists, primary care physicians, and family.

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

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

Executive functions among youth with Down Syndrome and co-existing neurobehavioural disorders

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

Cultural Issues in Diagnosis and Treatment of ADHD

Guanfacine Use in Children With Down Syndrome and Comorbid Attention-Deficit Hyperactivity Disorder (ADHD) With Disruptive Behaviors

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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Eczema, Hygiene, Self-Maintenance

Sexuality, Puberty & Gynecologic Care

Help prepare to face changes and discuss appropriate management of sexual behaviours (e.g. masturbation). Puberty and development is similar to the rest of the population, but requires explanation and better preparation. Pregnancy is known to happen in women with DS (50% recurrence risk of DS) and some recorded cases for men (no known recurrence risk).

Endocrine Manifestations of Down Syndrome

STD Prevention, Contraceptive Issues, Fertility

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