Eyes

Ophthalmologic eval

Assessment for cortical visual impairment oculogyric crisis Gastrointestinal/

Feeding

Gastroenterology/ nutrition/ feeding team eval

Assessment for feeding difficulties, nutrition, weight gain, constipation, gastroesophageal reflux disease

Musculoskeletal

Orthopedics / physical medicine rehab/ PT OT eval

Exam for muscular hypotonia, spasticity, scoliosisTo incl assessment of:; Gross motor fine motor skills; Contractures, clubfoot, kyphoscoliosis; Mobility ADL need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)

Neurologic

Neurologic eval

To incl clinical eval for movement disorders, seizures; EEG, brain MRI

Development

Developmental assessment

To incl:; Eval of motor, speech language, general cognitive, vocational skills; Motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Psychiatric/

Behavioral

Neuropsychiatric eval

For persons age 12 mos: screen for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD. Miscellaneous/

Other

Family supports resources

Assess need for:; Community or such as Parent to Parent;; Social work involvement for parental support;; Home nursing referral.

Treatment of Manifestations in Individuals with GRIN1-Related Neurodevelopmental Disorder Manifestation/Concern

Treatment

Considerations/Other Developmental delay/

Intellectual disability

See .

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Central visual impairment

No specific treatment; early intervention w/vision therapy may help to stimulate visual development.

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Seizures

Standardized treatment w/ASMs by experienced neurologist

Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1

Muscular hypotonia, spasticity, movement disorder

Orthopedics/ physical medicine rehab/ PT OT incl stretching to help prevent contractures falls

Consider need for positioning mobility devices, disability parking placard. ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy Education of parents regarding common seizure presentations is appropriate.