Parents may have completed prenatal screening, but it is important to confirm the diagnosis by performing a physical exam and genetic/blood testing. Are you sharing the news? Learn more at https://anythingbutsorry.com/ about how you can enable a
positive start to a wonderful life! Parents and families may also need a referral to genetic counselling and early intervention services (e.g., feeding) if indicated.
Congenital heart disease (prevalence ~50% individuals with DS)
Assessment: Detailed physical examination and echocardiogram for all newborns with DS (irrespective of physical exam findings)
Recommended: Referral to pediatric cardiologist if echocardiogram results are abnormal.
Other malformations: digestive, urinary respiratory tract, muscular skeletal.
Congenital hearing loss (prevalence ~ 15% newborns with DS)
Recommended: Objective testing with brainstem auditory evoked response or otoacoustic emissions & follow-up in 3 months.
Frequent infections due to primary (T&B cells), secondary (nutritional, lifestyle) and anatomical (e.g. upper respiratory tract) abnormalities.
Cataracts (prevalence ~ 5% newborns with DS)
Assessment: Look for the red eye reflex.
Recommendation for positive results: Prompt evaluation & treatment by an ophthalmologist & follow-up in 3 months.
Cataracts, Abnormal Eye Movements
Congenital hypothyroidism (1% risk for newborns with DS)
Assessment: Automatically done in newborn screening
Clinical best practice: Additional test for TSH, fT4
Recommendation for positive results: Refer to pediatric endocrinologist to discuss further management.
Congenital hypothyreosis can manifest beyond newborn period; Treatment of subclinical hypothyreosis (hyperthyreotropinemia) is discussed controversially, but can be first manifestation of thyroid autoimmunity.
Congenital gastrointestinal tract abnormalities: duodenal atresia or anorectal atresia/stenosis (prevalence ~5% children with DS)
Assessment: Detailed history and examination for symptoms/signs of constipation, hypotonia, gastrointestinal tract malformation (Hirschsprung disease), restricted diet, limited fluid intake, or gastroesophageal reflux.
Recommended: Refer for subspecialty intervention if congenital abnormality suspected/if reflux is severe.
Feeding, swallowing, digestive problems can be due to: anatomical malformations; infectious/ immunological problems (H-Pylori, colitis, hepatitis), functional (sucking, swallowing, chewing, reflux).
Hypotonia
Assessment: History and examination looking for symptoms/signs of hypotonia, including dysphagia.
Recommended: Radiographic swallow assessment if significant hypotonia/signs of dysphagia during feeding and review positioning during breastfeeding
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
Cognitive deficits and associated neurological complications in individuals with Down’s syndrome
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.
Transient Myeloproliferative Disorder (incidence ~10-30% for infants with DS)
Assessment: Newborn screening test; RBC/WBC & blood smear: assess for polycythemia, thrombocytopenia, transient myeloproliferative disorder, leukemia.
High incidence of lymphoblastic/myeloblastic leukemia in infancy/childhood; low incidence of solid tumors. Transient myeloproliferative disease in infants. T&B cell abnormalities.
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.
Chromosome 21, Trisomy 21, Karyotype, Non-disjunction, Mosaic, Mosaicism, Robertsonian, Translocation, Genetic Counselling
Airway Anomalies (Increased risk e.g. Laryngomalacia, tracheomalacia)
Assessment: Detailed history and examination looking for symptoms/signs of difficulty breathing associated with pneumonia (particularly aspiration pneumonia in the context of marked hypotonia and structural abnormalities), stridor, wheezing, or noisy breathing in wake and sleep.
Recommended: Review need for referral to pulmonologist/respirologist; inform and discuss with parents the increased risk for respiratory tract infections in DS. If aspiration is suspected, refer for swallow assessment. Review need for respiratory syncytial virus prophylaxis (e.g. for severe & comorbid conditions).
Pneumonia, Tracheal Abnormalities, Respiratory Tract Infection
(1) Perform a complete physical examination to confirm the diagnosis. Findings may include: small brachycephalic head, epicanthal folds, flat nasal bridge, upward-slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at nape of neck, single transverse palmar crease, short 5th finger with clinodactyly and wide spacing, deep plantar groove between 1st and 2nd toes, and hypotonia.
(2) Perform genetic and blood testing to confirm the diagnosis. Send a blood sample for chromosome evaluation (via FISH) within the first 24-48 hours of life. Obtain CBC and look for leukemoid reactions, transient myeloproliferative disorder and polycythemia.
(3) Refer infants with marked hypotonia, slow feeding or choking, recurrent pneumonia or respiratory symptoms for further assessment.
Confirm Diagnosis, Radiographic Swallowing Assessment
Discuss diagnoses with parents. Focus on strengths and positive experiences of other families living with DS. Discuss the risks of DS recurrence; refer to genetic counselling as needed. Discuss the potential clinical manifestations associated with DS and how to cope with long-term disabilities. Remember to always use a warm and empowering tone!
Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings
Down’s syndrome: cost, quality and value of life
Decision Making Following a Prenatal Diagnosis of Down Syndrome: An Integrative Review
A ‘cure’ for Down syndrome: what do parents want?
An evidence-based approach to the 12-min consultation for a child with Down’s syndrome
Overcoming Communication Barriers – Working With Patients With Intellectual Disabilities
Counselling/Support for Parents
Breastfeeding is recommended for at least 6 months. Counselling should be offered to all parents as a way to empower mothers and/or mitigate challenges that arise with breastfeeding.
Clinical best practice: widening of the nipple of bottles is not recommended as it reduces sucking reflex.
Recommended: Create a regular feeding schedule and review until the nursing pattern is established. Radiographic swallow assessment if significant hypotonia/signs of dysphagia during feeding.
Child-Feeding Practices in Children with Down Syndrome and Their Siblings
Effect of Zinc Supplementation on Thyroid Hormone Metabolism of Adolescents with Down Syndrome
Nutrient intake and obesity in prepubescent children with Down syndrome
Zinc Nutritional Status in Adolescents with Down Syndrome
Down Syndrome- Genetic and Nutritional Aspects of Accompanying Disorders