|
Chapter 2 Index
A. Evaluation by system B. Other categories of illnesses:
1. Metabolic and Endocrine
2. Collagen-Vascular Illnesses
3. Chromosomal Abnormalities |
|
Most Frequently Recognized Trisomies
(Ref: Smith’s Textbook – 5th edition)
| |
Down Syndrome |
Trisomy 18 |
Trisomy 13 |
|
Found in > 50% |
Hypotonia
Flat facies
Slanted palpebral fissures
Small ears
Mental deficiency
Brachycephaly
Speckled iris
Lens opacities
Refractive errors
Hearing loss
Serous Otitis
Hypoplasia mid phalanx of 5th finger
Gap between toes |
Poor fetal activity
Weak cry
Single umbil. Artery
1/3 premature birth weight: 2340 g
prominent occuput
low set ears
clenched hand: overlapped index fin
short sternum
hernias
cyrptorchid
hypertonicity
redundant skin
VSD/ASD/PDA |
Holoprosencephaly
Defects of eye, nose,lip and forebrain.
Polydactyly
Narrow fingernailsSkin defects scalp
Deafness
Microphthalmia
Coloboma
Cleft lip and palate
80%: Cardiac: VSD, PDA, ASD, dextroposition.
Cryptorchidism
Single umbilical artery |
|
10-50% of cases |
Cardiac Anomalies
Simian crease
Cutis marmorata
Small penis with gonadal deficiency. |
Microcephaly with wide fontanels
Hypoplastic thumb
Other congen ht dis
Meckels
Renal anomalies |
Hypertonia
Corpus callosum agenesis
Absent philtrum
Cleft tongue
Syndactyly
Polycystic kidney |
|
Natural History |
Mean IQ for older patients is 24
Social: average is 3.3 years.
Slow growth
Heart disease: cause of death: live to 30:
Heart dis: 53%
No heart dis: 87% |
50% die first week
5-10 % die first year
All severely retarded |
2.5 day median survival – 5% survive the first 6 months |
|
Etiology |
Older maternal age
94% - full trisomy
2.4% - 21 mixture Trisomy/mosaic
3.3% Translocations |
Older maternal age
Most: trisomy
A few translocations |
Older maternal age
Can be mosaic or partial trisomy as well as trisomy |
|
Recurrence rate |
About 1% |
Less than 1% |
No figure identified |
Down Syndrome: Anticipatory Guidance
(Pediatrics 1994;93:855-858; Health Supervision Guidelines – AAP:1994)
Genetics: 95% nonfamilial trisomy 21; 3-4% translocation, ¾ of which are
de novo; 1-2% mosaics: one normal cell line mixed with one trisomy cell line.
PE findings: Hypotonia, small brachycephalic head, epicanthal folds, flat
nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth and ears,
palmar crease, clinidactyly.
Common problems associated with Down Syndrome:
1. General: Mental retardation: Variable: mild, moderate and
occasionally severe. Premature development of Alzheimer’s disease (starting
age 20’s)
2. HEENT:
- Ears: deafness (75%); serous otitis media (50-70%).
- Eyes: cataracts (15%) and severe
refractive error (50%). Sinuses: recurrent sinusitis, obstructive
breathing.
- Atlantoaxial Instability (10-20%): X-rays
are often not accurate; however, Special Olympics require them. Consider doing if
symptoms such as neck
pain, torticollis, lower tract signs occur. Sports such as
gymnastics, diving, soccer should be discouraged.
- Thyroid disease (15%): T4 and TSH should be
drawn 3,6,9,12,18, 24 mos. It can develop after
being normal earlier in Down children.
3. Cardiopulmonary: congenital heart disease: AV canal, PDA:
50% incidence: Recent recommendation is that every newborn with
Down Syndrome have Echocardiogram
4. Gastrointestinal: GI Atresias (12%); duodenal atresia most common;
Hirshsprungs<1%
5. Hips: acquired hip dislocation (6%)
6. Blood disorders: Leukemia (<1%) - more ALL than AML
(60%-40%), but children with Down Syndrome also can get transient
leukemia of the newborn.
7. Skin problems: very dry skin. Most children have this
problem; hard to treat.
Screening for Down Syndrome children:
|
Age of Child |
Evaluation and Anticipatory
Guidance for
Specific Ages |
|
Neonatal |
Refer to Early Intervention Services (mention at prenatal exam)
Echocardiogram: neonatal period (mention at prenatal exam) |
|
Infancy |
1. Thyroid Screening: do at periodic intervals through first several
years; then do each year thereafter.
2. Hearing Screening: by a standardized method - do annually
3. Vision Screening: subjective testing and standardized method- 1x/yr
4. Growth: be aware of normal growth and development; |
|
Childhood |
1 Review preschool program, discuss school placement
2. Assess behavior; consider behavior modification if necessary
3. Some consider plastic surgery at this age |
|
Older children and teenagers |
1. Annual hearing, vision, thyroid
2. School, workshop settings, community involvement
3. Discuss sexuality
and socialization. Consider contraceptives
4. Consider X-ray to rule out atlantoaxial instability
|
Next Page |