Management Guidelines
No clinical practice guidelines for asparagine synthetase deficiency (ASD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with ASD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Asparagine Synthetase Deficiency: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comments
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Neurologic
| Neurologic eval | • EEG if seizures are a concern
Brain MRI to evaluate extent of disease
Assessment for abnormal tone, spasticity, movement disorder
Musculoskeletal
| Clinical eval for scoliosis | • Consider radiographic scoliosis survey (radiographs of spine) based on clinical suspicion.
Consider referral to orthopedist if scoliosis is present.
Gastrointestinal/
Feeding
| Assess growth parameters to identify those w/poor weight gain. |
Assess for feeding problems incl difficulty w/sucking, swallowing, GERD. | Referral to feeding therapist if feeding problems identified
Assess for constipation. |
Ocular
| Ophthalmologic eval | Consider visual evoked potential test.
Respiratory
| Sleep study to assess for apnea as needed |
Hearing
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Source: GeneReviews — "Asparagine Synthetase Deficiency"
