Concerns and Recommendations

Concerns Recommendations
  • Array comparative genomic hybridization (CGH) for high resolution mapping of the breakpoint
  • Karyotype analysis of parents.
56% have major congenital heart defects
  • Baseline evaluation by a pediatric cardiologist, including an electrocardiogram, echocardiogram, and then as needed (e.g., new murmur)
Almost 100% are born with low platelets that usually have persistently decreased function
  • Monthly CBC, first 3 months, then once/year
  • Platelet function studies, once platelet count normalizes
  • Platelet transfusion and/or ddAVP for bleeding/high risk procedures
  • Avoidance of medications that interfere with platelet function (e.g. ibuprofen)
  • May consider oral contraceptive therapy in females for heavy menses.
Most have mild to moderate developmental delays, most commonly in expressive language; seizures occur uncommonly.
  • 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)
  • Early intervention programs/environmental enrichment
  • Music therapy is beneficial, particularly in language development
  • Age-appropriate vision and hearing testing
  • Referral to a pediatric neurologist for seizures
  • The degree of cognitive impairment correlates with the relative size of the deletion
ADHD very common; Schizophrenia rare. Autistic like features have been identified in some patients
  • Pediatrician with expertise in behavioral problems, and/or a pediatric psychiatrist/psychologist.
"Lazy eye" is common, which can lead to blindness if not treated within the first year of life
  • Baseline (age 6 weeks) with pupil dilation, age 3 months, 6 months, then every 6 months until age 3 years, and yearly thereafter
Short stature occurs in most, in whom 50% have growth hormone deficiency; hypothyroidism occurs uncommonly
  • Baseline growth hormone (IGF-1) and hypothalamic/pituitary, and as needed based on clinical course (e.g., short stature).
  • Risks/benefits of human growth hormone replacement therapy unknown
  • TSH level
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
  • Upper GI series/abdominal ultrasound to rule out pyloric stenosis (if clinically indicated)
  • Rectal mannometry and/or Rectal biopsy for chronic constipation
  • Swallowing studies, if clinically indicated, for failure to thrive
  • Medical therapy for chronic constipation, as needed
Structural defects occur in ~10% of patients; 50% of males have undescended testes, usually requiring surgical correction.
  • Baseline renal ultrasound
  • Referral to a pediatric urologist for undescended testes or any other anomalies
Otolaryngology (ear, nose, and throat):
Hearing impairments occur commonly
  • Age-appropriate formal hearing testing, beginning in infancy
  • Imaging study for bifid uvula to rule out midline defects
  • ENT referral for chronic/recurrent ear infections, sinusitis
Immunodeficiency is rare in these patients; eczema occurs in about 20% of patients
  • No known contraindications for routine immunizations; referral only if clinically indicated (e.g., for serious or frequent infections) to assess immune system
  • Treat eczema symptomatically; dermatology referral for refractory cases
One third of patients have trigonocephaly (a type of craniosynostosis), caused by premature closure of cranial sutures.
  • Early referral to a pediatric neurosurgeon, if craniosynostosis is suspected
No specific orthopedic problems; gross and fine motor delays are common; hypotonia is common
  • Baseline physical/occupational therapy evaluation and ongoing therapy as needed
  • Referral to a pediatric orthopedic surgeon as needed
No specific metabolic problems have been identified
  • Metabolic evaluation only as indicated on an individual basis
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
Health maintenance:
  • No contraindications to normal immunization schedule