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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.

Reprinted with permission from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999