Table 5.

Treatment of Manifestations in Individuals with CHD8-Related Neurodevelopmental Disorder with Overgrowth

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Behavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for CHD8-NDD.
  • Education of parents/caregivers 1
Dystonia Standard treatment per neurologist2 affected persons w/childhood-onset progressive dystonia that was unresponsive to pharmacologic therapy experienced improvement w/deep brain stimulation. 2
Chiari I malformation Surgical treatment may incl bony decompression of foramen magnum & dorsal arch of C1.
Sleep disturbance
  • Behavioral interventions 3
  • Pharmacologic interventions may also be considered.
Bowel dysfunction Standard treatment of constipation & other GI problemsFluids, dietary fiber, bulk laxatives, osmotic agents, stimulant laxatives, or emollients as needed
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; C1 = first cervical vertebra; GI = gastrointestinal

1.

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

2.
3.

For example, cognitive behavioral therapy, including sleep restriction therapy

From: CHD8-Related Neurodevelopmental Disorder with Overgrowth

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