Table 2. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
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, & scoliosis To 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 online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.
Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling

System/Concern

Evaluation

Comment

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, & scoliosis
To 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 online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

Consultation w/clinical geneticist &/or genetic counselor

To incl genetic counseling

From: GRIN1-Related Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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