Table 6. [Recommended Surveillance for Individuals with NR2F1-Related Neurodevelopmental Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake	At time of diagnosis, then based on recommendation by treating physician
Gastrointestinal	Monitor for constipation.	At regular well-child checks
Neurologic	Monitor those w/seizures as clinically indicated.	As recommended by treating physician
Assess for new manifestations incl seizures, changes in tone, mvmt disorders.	Annually
Development	Monitor developmental progress & educational needs.
Psychiatric/ Behavioral	Behavioral assessment for anxiety, ADHD, ASD, & aggressive or self-injurious behavior	At time of diagnosis, then based on recommendation by treating physician
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills
Ophthalmologic involvement	Ophthalmologic assessment to evaluate visual function Low-vision services to assess changes in visual acuity & personal needs	As recommended by treating physician
Hearing	Audiologic eval	Every other year
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).	Annually

System/Concern

Evaluation

Frequency

Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake

At time of diagnosis, then based on recommendation by treating physician

Gastrointestinal

Monitor for constipation.

At regular well-child checks

Neurologic

Monitor those w/seizures as clinically indicated.

As recommended by treating physician

Assess for new manifestations incl seizures, changes in tone, mvmt disorders.

Annually

Development

Monitor developmental progress & educational needs.

Psychiatric/
Behavioral

Behavioral assessment for anxiety, ADHD, ASD, & aggressive or self-injurious behavior

At time of diagnosis, then based on recommendation by treating physician

Musculoskeletal

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

Ophthalmologic
involvement

Ophthalmologic assessment to evaluate visual function
Low-vision services to assess changes in visual acuity & personal needs

As recommended by treating physician

Hearing

Audiologic eval

Every other year

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).

Annually

From: NR2F1-Related Neurodevelopmental Disorder

GeneReviews^® [Internet].

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

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