Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with GRIN2B-Related Neurodevelopmental Disorder

System/ConcernEvaluationComment
Ocular OphthalmologicAssess for cortical visual impairment.
Gastrointestinal/
Feeding 		Feeding, nutrition status, weight gainDetermine if tube feeding is required.
Musculoskeletal Clinical eval for tone abnormalitiesAssess for muscular hypotonia &/or spasticity.
Neurologic NeurologicIncl clinical eval for movement disorders, EEG, brain MRI
Psychiatric/
Behavioral 		NeuropsychiatricFor persons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Miscellaneous/
Other 		Developmental assessmentIncl motor, speech/language, general cognitive, vocational skills
Consultation w/clinical geneticist &/or genetic counselor

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder

From: GRIN2B-Related Neurodevelopmental Disorder

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