This is a summary of the Health Care Guidelines for Individuals with Down syndrome and can be placed in the front of a family's medical record book or in the front of a medical chart for rapid consultation. The original version was prepared in 1989 by Dr. Allen Crocker.
|Concern||Clinical Expression||When Seen||Observed Prevalence||Management|
|Congenital heart disease||AV canal defects, auricular or ventricular septal defects, Tetralogy of Fallot||Newborn or first year||40-50%||Cardiac consultation,echocardiography,surgical repair, SBE prophylaxis|
|Hypotonia||Reduced muscle tone,increased range of joints, motor function problems||Throughout life;improvement with maturity||All||Guidance by physical therapy;early intervention;adapted physical education|
|Delayed growth||Typically at or near the third percentile for general population||Throughout||All||Use DS growth charts, early nutritional support; check thyroid, heart|
|Developmental delays||Some global delay, variable degrees; specific language problems||1st year, continues||All||Early intervention, educational planning, speech/language therapy|
|Hearing concerns||Serious otitis media, small canals, mostly conductive impairment||Check by 6 months; review regularly in early years||Up to 50% at some times, ? 10% sensorineural||Audiology, tympanometry, ENT consultation|
|Ocular problems||(1) refractive errors, (2) strabismus, (3) cataracts||Eye exam by 6-12 months, then follow-ups||(1) 50%, (2) 35%, (3) 5%||Look for cataract; ophthamologic consultation|
|Cervical spine abnormality||(1)Atlantoaxial instability, (2) potential neck or long-tract signs||X-ray by 3 yrs; repeat in middle childhood||(1) 10% +/- (2) 1-2% +||Neurologic, orthopedic help; possible restriction, fusion|
|Thyroid disease||Hypothyroidism (rare hyper-), decreased growth & development||Some congenital; most 2nd+ decade; check at 2-3 years, repeat||15%||Endocrine consult, replacement therapy as needed|
|Overweight||Excessive weight gain||Preschool and adolescent years||Common||Lifestyle adjustment, including diet and activity|
|Seizure disorders||Primary generalized (also hypsarrhythmia)||Any time||5-10%||EEG,neurologic consultation|
|Emotional problems||Inappropriate behavior, depression, other emotional disturbances||Mid to late childhood, adult life||Common||Family guidance, aid in transitions, mental health assistance|
|Premature senescence||Behavioral changes, functional losses||5th,6th decades||No Credible Observations (increased rate)||Special support|
Additional variable occurrences include congenital obstruction, Hirschsprung disease, leukemia, alopecia areata, keratoconus, hip dysplasia, diabetes mellitus, missing teeth, obstructive sleep apnea, and mitral valve prolapse.