MEDICAL CONCERNS

AND RECOMMENDATIONS

GENETICS

Recommendations:

  • Array comparative genomic hybridization (CGH) for high resolution mapping of the breakpoint 

  • 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

  • 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.

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)

  • 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

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).

  • Risks/benefits of human growth hormone replacement therapy unknown

  • 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

  • Swallowing studies, if clinically indicated, for failure to thrive

  • 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

  • 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 

  • Imaging study for bifid uvula to rule out midline defects

  • ENT referral for chronic/recurrent ear infections, sinusitis

ALLERGY/IMMUNE

Immunodeficiency is rare in these patients; eczema occurs in about 20% of patients

Recommendations:

  • 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

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

  • 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

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