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1 YEAR TO 5 YEARS

The sooner health issues are found, the more easily they can be managed. Review the family history when continuing regular wellness visits and reviewing past health conditions and medications; be sure to update past lab requisitions. Be prepared to discuss and answer questions about alternative treatments. At this age, behavioural

and social challenges may develop and should be reviewed. Referrals to early intervention services (e.g., psychology, speech pathology, physical or occupational therapy) may support positive social and recreational development.

GUIDELINES

RESOURCES

Behavioural Support

Growth Charts

Physical and Occupational Therapy

Social Support (parent support groups, counselling)

Speech-Language Pathology

FORMS

Assessment Checklist - 1 Year to 5 Years
Assessment Form - 1 Year to 5 Years
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Heart

Congenital heart disease (prevalence ~50% individuals with DS)

Assessment: Detailed history and examination for children with congenital cardiac defects (typically ventricular or atrioventricular septal defects).

Recommendation: Follow-up with a pediatric cardiologist and monitor for recurrent/residual lesions and development of pulmonary hypertension.

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

Otitis Media (prevalence ~50-70% of children with DS)

Assessment: There is a high risk of hearing loss due to otitis media. Screen using behavioural audiogram and tympanometry every 6 months until normal hearing levels are established bilaterally by ear-specific testing after 4 years of age. Perform otoacoustic emissions or brain stem auditory response if prior testing does not establish normal hearing. There is a possibility of stenotic ear canal issues.

Recommended: Refer to an otolaryngologist if hearing loss is confirmed/suspected.

Hearing loss in children with Down syndrome

The Otolaryngologist’s Approach to the Patient with Down Syndrome

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

Refractive Errors (~50% risk)

Assessment: Check vision using developmentally appropriate subjective criteria. Address any refractive errors and strabismus for amblyopia prevention.

Recommended: Refer annually to an ophthalmologist.

Reference text will go here

Refractive Errors, Abnormal Eye Movements

Thyroid

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

Assessment: History & examination looking for symptoms/signs of thyroid dysfunction.

Recommended: Thyroid function tests annually. 

Precocious puberty in juvenile hypothyroidism

Hypothyroidism and Down’s syndrome

Down Syndrome and Thyroid Function

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%)

Assessment: Review symptoms/signs related to celiac disease including diarrhea/protracted constipation, abdominal pain, slow growth, failure to thrive, or anemia. If symptoms are present, obtain tissue transglutaminase IgA level and quantitative IgA for further assessment.

Recommended: 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

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

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

Assessment: History and examination looking for symptoms/signs of AML (note that 20% of those with TMD go on to develop AML by age 4) & ALL.

Recommended: For infants who had TMD, obtain RBC/WBC & blood smear every 3 months for the first four years of life. Hemoglobin, serum ferritin, & CRP annually for all infants/children.

Infections and immunodeficiency in Down syndrome 

Infections and immunodeficiency in Down syndrome

Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder

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.

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

Recommended: Refer for a sleep study (polysomnography) by age 4.

Comparative outcomes of severe obstructive sleep apnea in pediatric patients with Trisomy 21  

Sleep Profiles in 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 characteristics in 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

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

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, Neck Pain, Tone/Gait Issues, Radicular Pain

Immunization

Recommended: In addition to routine vaccinations, children with DS should also receive the annual influenza vaccine & if cardiac/pulmonary risk factors, also administer 23-valent pneumococcal polysaccharide vaccine at ≥ 2 yrs old.

Immunisation Protecting People with Down’s Syndrome Against Infection

Immunizations

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: First dental exam at age 2, then at regular 6 month intervals. Referral to orthodontist if needed.

Dental Care for Patient with Down Syndrome 

Down Syndrome Review for Dental professionals

Delayed/Irregular Eruption, Hypodontia

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

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

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

Growth & Wellbeing

Behavioural Management

Autism (Prevalence ~7% children with DS)

Assessment: Discuss behavioural/social progress and risks of autism, ADHD, and other psychiatric issues (tend to manifest around 2-3 years of age).

Recommended: Consider sibling adjustments, socialization, and recreation. If needed, refer for behavioural management.

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

Strategies to address challenging behaviour in young children with Down syndrome

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

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.

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