Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval
EEG	To assess degree of epileptic encephalopathy May lead to more focused use of ASMs
MRI	To differentiate genetic epilepsy from lesional epilepsy May lead to intensified conservative treatment rather than presurgical work up
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Psychiatric/ Behavioral	Neuropsychiatric eval	For persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, aggression, &/or traits suggestive of ASD
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of CHD2-related neurodevelopmental disorders to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Neurologic

Neurologic eval

EEG

To assess degree of epileptic encephalopathy
May lead to more focused use of ASMs

MRI

To differentiate genetic epilepsy from lesional epilepsy
May lead to intensified conservative treatment rather than presurgical work up

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Psychiatric/
Behavioral

Neuropsychiatric eval

For persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, aggression, &/or traits suggestive of ASD

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of CHD2-related neurodevelopmental disorders to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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