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

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Feeding issues / Gastrointestinal manifestations	Gastroenterology / nutrition / feeding team eval	To incl eval of aspiration risk & nutritional status Consider eval for gastric tube placement in those w/severe feeding/growth issues or aspiration risk. Additional eval may be needed for constipation symptoms.
Neurologic	Neurologic eval	Consider EEG if seizures are a concern.
Psychiatric / Behavioral	Neuropsychiatric eval	Individuals age >12 mos: screen for behavior concerns incl features of autism spectrum disorder
Cardiovascular	Echocardiogram	To evaluate for structural heart defects
Eyes	Ophthalmologic eval	To assess for ↓ vision, abnormal ocular movement, strabismus, or other anomalies
Genitourinary	Renal ultrasound	To evaluate for renal anomalies
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of PACS1-NDD 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

Development

Developmental assessment

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

Feeding issues /
Gastrointestinal manifestations

Gastroenterology / nutrition / feeding team eval

To incl eval of aspiration risk & nutritional status
Consider eval for gastric tube placement in those w/severe feeding/growth issues or aspiration risk.
Additional eval may be needed for constipation symptoms.

Neurologic

Neurologic eval

Consider EEG if seizures are a concern.

Psychiatric /
Behavioral

Neuropsychiatric eval

Individuals age >12 mos: screen for behavior concerns incl features of autism spectrum disorder

Cardiovascular

Echocardiogram

To evaluate for structural heart defects

Eyes

Ophthalmologic eval

To assess for ↓ vision, abnormal ocular movement, strabismus, or other anomalies

Genitourinary

Renal ultrasound

To evaluate for renal anomalies

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of PACS1-NDD 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.

From: PACS1 Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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