Table 7. [GRIN2A-Related Disorders: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress & educational needs.	At each visit
Neurologic	Assess for new manifestations such as seizures, changes in tone, movement disorders, & regression Assess for more subtle seizure types that many not have been recognized.
Speech & language disorders	Routine monitoring of speech & language by speech-language pathologist should be considered, particularly in childhood. Parents should be asked by all clinicians about loss of understanding or regression in spoken language skills.
Neurobehavioral/ Psychiatric	Assess for behavioral disorders (particularly ADHD & ASD) & mental health issues (particularly anxiety, mood, & psychotic disorders).
Musculoskeletal / Activities of daily living	Physical medicine (particularly in childhood), OT/PT assessment of mobility, & self-help skills depending on child’s phenotype
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

Development

Monitor developmental progress & educational needs.

At each visit

Neurologic

Assess for new manifestations such as seizures, changes in tone, movement disorders, & regression
Assess for more subtle seizure types that many not have been recognized.

Speech & language disorders

Routine monitoring of speech & language by speech-language pathologist should be considered, particularly in childhood. Parents should be asked by all clinicians about loss of understanding or regression in spoken language skills.

Neurobehavioral/
Psychiatric

Assess for behavioral disorders (particularly ADHD & ASD) & mental health issues (particularly anxiety, mood, & psychotic disorders).

Musculoskeletal /
Activities of daily living

Physical medicine (particularly in childhood), OT/PT assessment of mobility, & self-help skills depending on child’s phenotype

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: GRIN2A-Related Disorders

GeneReviews^® [Internet].

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

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