Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with BCL11A-Related Intellectual Disability

System/ConcernEvaluationComment
Neurologic Assessment for hypotonia & signs/symptoms of seizures
  • EEG if seizures suspected
  • Consider brain MRI to detect brain abnormalities.
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >18 mos: screen for behavior problems incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Constitutional Weight, length/height, & head circumferenceAssess for evidence of short stature, failure to thrive, microcephaly.
Eyes Ophthalmologic evalAssess for strabismus, visual acuity.
Musculoskeletal Clinical eval for scoliosisConsider radiographic scoliosis survey based on clinical suspicion & referral to orthopedic surgeon as appropriate.
Clinical eval for joint laxityConsider referral to rehab specialist & OT.
Gastrointestinal/
Feeding 		Assessment of feeding problems in infancy & for GERD at any ageReferral to feeding therapist if feeding problems identified
Hematologic Hemoglobin HPLC or hemoglobin electrophoresisExpect ↑ HbF.
Miscellaneous/
Other 		Developmental assessment
  • Incl eval of motor, speech &language, general cognitive, & vocational skills
  • Refer to speech & rehab therapy, PT, & OT as appropriate.
Consultation w/clinical geneticist &/or genetic counselor

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disorder; HbF = fetal hemoglobin; HPLC = high-performance liquid chromatography; OT = occupational therapist; PT = physical therapist

From: BCL11A-Related Intellectual Disability

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