Table 4. [Recommended Evaluations Following Initial Diagnosis of Asparagine Synthetase Deficiency]. - GeneReviews®

System/Concern	Evaluation	Comments
Neurologic	Brain MRI to evaluate extent of disease	Consider neurologic consultation.
EEG	If seizures are suspected
Ocular	Ophthalmologic eval	Consider visual evoked potential.
ENT	Audiologic eval
Gastrointestinal/ Feeding	Assessment of growth parameters to identify those w/failure to thrive
Assessment for feeding problems incl difficulty w/sucking, swallowing, & GERD	Referral to feeding therapist if feeding problems identified
Musculoskeletal	Clinical eval for scoliosis &/or kyphosis	Consider radiographic scoliosis survey (x-rays of the spine) based on clinical suspicion; consider referral to orthopedist if scoliosis is present.
Other	Developmental assessment	To provide a baseline level of functioning & recommendations for services (speech, occupational, physical therapy)
Consider referral to clinical geneticist &/or genetic counselor.

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