Table 6. [GRIA2-Related Neurodevelopmental Disorder: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Feeding	Measurement of growth parameters (incl OFC) Eval of nutritional status & safety of oral intake	At each visit
Gastrointestinal	Monitor for constipation & gastroesophageal reflux disease. Monitor feeding needs, esp in early infancy.
Respiratory	Monitor for evidence of aspiration, respiratory insufficiency, or abnormal respiratory pattern (episodes of hyperventilation).
Neurologic	Monitor those w/seizures as clinically indicated. Assess for new manifestations such as seizures, changes in tone, or movement disorders.
Development	Monitor developmental progress & educational needs.
Neurobehavioral/ Psychiatric	Behavioral assessment for anxiety, ADHD, ASD, aggression, & self-injury
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills
Ophthalmologic involvement	Monitor those w/abnormal ocular motility or strabismus.	Per treating ophthalmologist(s)
Respiratory	Monitor abnormal breathing patterns (irregular breathing & hyperventilation episodes).	At each visit
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

System/Concern

Evaluation

Frequency

Feeding

Measurement of growth parameters (incl OFC)
Eval of nutritional status & safety of oral intake

At each visit

Gastrointestinal

Monitor for constipation & gastroesophageal reflux disease.
Monitor feeding needs, esp in early infancy.

Respiratory

Monitor for evidence of aspiration, respiratory insufficiency, or abnormal respiratory pattern (episodes of hyperventilation).

Neurologic

Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures, changes in tone, or movement disorders.

Development

Monitor developmental progress & educational needs.

Neurobehavioral/
Psychiatric

Behavioral assessment for anxiety, ADHD, ASD, aggression, & self-injury

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills

Ophthalmologic involvement

Monitor those w/abnormal ocular motility or strabismus.

Per treating ophthalmologist(s)

Respiratory

Monitor abnormal breathing patterns (irregular breathing & hyperventilation episodes).

At each visit

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

From: GRIA2-Related Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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