Table 4.

Treatment of Manifestations in Individuals with BCL11A-Related Intellectual Disability

Manifestation/ConcernTreatmentConsiderations/Other
Seizures Standardized treatment w/ASMs by experienced neurologist 1Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
Sleep disturbances Standard mgmtConsider melatonin.
Abnormal vision &/or strabismus Standard treatment(s) as recommended by ophthalmologist
Scoliosis Standard mgmt as recommended by orthopedist
Joint laxity PT &/or OT
GERD &/or constipation Referral to (pediatric) gastroenterologistSymptomatic mgmt to enhance nutritional intake & hydration

ASM = anti-seizure medication; GERD = gastroesophageal reflux disorder; OT = occupational therapy; PT = physical therapy

1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: BCL11A-Related Intellectual Disability

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