Table 4.

Treatment of Manifestations in Individuals with CHD2-Related Neurodevelopmental Disorders

Manifestation/ConcernTreatmentConsiderations/Other
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none have been demonstrated effective specifically for this disorder. 1, 2
  • Education of parents/caregivers 3
Developmental delay / Intellectual disability See Developmental Delay / Intellectual Disability Management Issues.

ASMs = anti-seizure medications

1.

Most individuals remain refractory to treatment and require multiple ASMs.

2.

Although a ketogenic diet may be a treatment option, it was not effective in three affected individuals [Thomas et al 2015].

3.

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.

From: CHD2-Related Neurodevelopmental Disorders

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