The
National Down Syndrome Congress gratefully acknowledges
the contributions by Allen Crocker, M.D. for his development
of this HealthWatch chart. It is presented here with
his permission.
Concern: Cervical
spine abnormality
Clinical Expression: (1)
Atlantoaxial instability, (2) potential neck or long-tract
signs
When Seen: X-ray by 3 yrs;
repeat in middle childhood
Observed Prevalence: (1)
10% +/- (2) 1-2% +
Management: Neurologic,
orthopedic help; possible restriction, fusion
Concern:
Congenital heart disease
Clinical Expression: AV
canal defects, auricular or ventricular septal defects,
Tetralogy of Fallot
When Seen: Newborn or first
year
Observed Prevalence: 40-50%
Management: Cardiac consultation,
echocardiography, surgical repair, SBE prophylaxis
Concern: Delayed
growth
Clinical Expression: Typically
at or near the third percentile for general population
When Seen: Throughout
Observed Prevalence: All
Management: Use DS growth
charts, early nutritional support; check thyroid, heart
Concern: Developmental
delays
Clinical Expression: Some
global delay, variable degrees; specific language problems
When Seen: 1st year, continues
Observed Prevalence: All
Management: Early intervention,
educational planning, speech/language therapy
Concern:
Emotional problems
Clinical Expression: Inappropriate
behavior, depression, other emotional disturbances
When Seen: Mid to late childhood,
adult life
Observed Prevalence: Common
Management: Family guidance,
aid in transitions, mental health assistance
Concern:
Hearing concerns
Clinical Expression: Serious
otitis media, small canals, mostly conductive impairment
When Seen: Check by 6 months;
review regularly in early years
Observed Prevalence: Up
to 50% at some times, 10% sensorineural
Management: Audiology, tympanometry,
ENT consultation
Concern: Hypotonia
Clinical Expression: Reduced
muscle tone, increased range of joints, motor function
problems
When Seen: Throughout life;
improvement with maturity
Observed Prevalence: All
Management: Guidance by
physical therapy; early intervention; adapted physical
education
Concern: Ocular
problems
Clinical Expression: (1)
refractive errors, (2) strabismus, (3) cataracts
When Seen: Eye exam by 6-12
months, then follow-ups
Observed Prevalence: (1)
50%, (2) 35%, (3) 5%
Management: Look for cataract;
ophthamologic consultation
Concern: Overweight
Clinical Expression: Excessive
weight gain
When Seen: Preschool and
adolescent years
Observed Prevalence: Common
Management: Lifestyle adjustment,
including diet and activity
Concern: Premature
senescence
Clinical Expression: Behavioral
changes, functional losses
When Seen: 5th,6th decades
Observed Prevalence: No
Credible Observations (increased rate)
Management: Special support
Concern: Seizure
disorders
Clinical Expression: Primary
generalized (also hypsarrhythmia)
When Seen: Any time
Observed Prevalence: 5-10%
Management: EEG,neurologic
consultation
Concern:
Thyroid disease
Clinical Expression: Hypothyroidism
(rare hyper-), decreased growth & development
When Seen: Some congenital;
most 2nd+ decade; check at 2-3 years, repeat
Observed Prevalence: 15%
Management: Endocrine consult,
replacement therapy as needed
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.
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