GENETICS
​Recommendations:
-
Array comparative genomic hybridization (CGH) for high resolution mapping of the breakpoint
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Karyotype analysis of parents.
CARDIAC
56% have major congenital heart defects
Recommendations:
-
Baseline evaluation by a pediatric cardiologist, including an electrocardiogram, echocardiogram, and then as needed (e.g., new murmur)
BLEEDING
Almost 100% are born with low platelets that usually have persistently decreased function
Recommendations:
-
Monthly CBC, first 3 months, then once/year
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Platelet function studies, once platelet count normalizes
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Platelet transfusion and/or ddAVP for bleeding/high risk procedures
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Avoidance of medications that interfere with platelet function (e.g. ibuprofen)
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May consider oral contraceptive therapy in females for heavy menses.
NEUROCOGNITIVE
Most have mild to moderate developmental delays, most commonly in expressive language; seizures occur uncommonly.
Recommendations:
-
Baseline evaluation by a neuropsychologist/behavioral specialist, and then yearly, or more often (as needed, e.g., prior to school entry), including brain imaging (e.g., MRI)
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Early intervention programs/environmental enrichment
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Music therapy is beneficial, particularly in language development
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Age-appropriate vision and hearing testing
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Referral to a pediatric neurologist for seizures
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The degree of cognitive impairment correlates with the relative size of the deletion
BEHAVIORAL
ADHD very common; Schizophrenia rare. Autistic like features have been identified in some patients
Recommendations:
-
Pediatrician with expertise in behavioral problems and/or a pediatric psychiatrist/psychologist.
OPHTHALMOLOGIC
"Lazy eye" is common, which can lead to blindness if not treated within the first year of life
Recommendations:
-
Baseline (age 6 weeks) with pupil dilation, age 3 months, 6 months, then every 6 months until age 3 years, and yearly thereafter
ENDOCRINE
Short stature occurs in most, in whom 50% have growth hormone deficiency; hypothyroidism occurs uncommonly
Recommendations:
-
Baseline growth hormone (IGF-1) and hypothalamic/pituitary, and as needed based on clinical course (e.g., short stature).
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Risks/benefits of human growth hormone replacement therapy unknown
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TSH level
GASTROINTESTINAL
Pyloric stenosis occurs relatively common (~10% of patients); chronic constipation requiring medications is very common; Hirschsprung’s disease not identified, although patients may have functional neurologic impairment of the GI tract causing constipation; feeding problems are common in infants, frequently requiring the temporary placement of a gastric tube
Recommendations:
-
Upper GI series/abdominal ultrasound to rule out pyloric stenosis (if clinically indicated)
-
Rectal mannometry and/or Rectal biopsy for chronic constipation
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Swallowing studies, if clinically indicated, for failure to thrive
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Medical therapy for chronic constipation, as needed
GENITOURINARY
Structural defects occur in ~10% of patients; 50% of males have undescended testes, usually requiring surgical correction.
Recommendations:
-
Baseline renal ultrasound
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Referral to a pediatric urologist for undescended testes or any other anomalies
OTOLARYNGOLOGY
Hearing impairments occur commonly
Recommendations:
-
Age-appropriate formal hearing testing, beginning in infancy
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Imaging study for bifid uvula to rule out midline defects
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ENT referral for chronic/recurrent ear infections, sinusitis
ALLERGY/IMMUNE
Eczema occurs in about 20% of patients
Recommendations:​
-
Treat eczema symptomatically; dermatology referral for refractory cases
NEUROSURGICAL
One third of patients have trigonocephaly (a type of craniosynostosis), caused by premature closure of cranial sutures.
Recommendations:
-
Early referral to a pediatric neurosurgeon, if craniosynostosis is suspected
ORTHOPEDIC
No specific orthopedic problems; gross and fine motor delays are common; hypotonia is common
Recommendations:
-
Baseline physical/occupational therapy evaluation and ongoing therapy as needed
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Referral to a pediatric orthopedic surgeon as needed
METABOLIC
No specific metabolic problems have been identified
Recommendations:
-
Metabolic evaluation only as indicated on an individual basis
HEALTH MAINTENANCE
Recommendations:
-
No contraindications to normal immunization schedule
SLEEP PROBLEMS
Most have difficulty with sleeping; restless sleep is the most common finding; children may also sleep in unusual positions; frequent night awakenings, settling problems, and early waking are additional issues found in research