Table 6. [IRF2BPL-Related Disorder: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress & educational needs.	At each visit
Neurologic	Assess cognitive function. Assess for new or increasing seizures. Assess for new manifestations such as movement disorders &/or spasticity.
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills Assess for contractures.
Neurobehavioral/ Psychiatric	Behavioral assessment for ASD, ADHD, anxiety, depression, &/or psychosis
Feeding/ Gastrointestinal	Measurement of growth parameters Eval of nutritional status & safety of oral intake Assessment for gastrointestinal dysmotility
Ophthalmologic involvement	Dilated eye exam	Per treating ophthalmologist(s)
Respiratory	Consider PFTs & spirometry to assess respiratory complications in those w/progressive neuromuscular compromise.	As needed
Endocrine	Assess pubertal development	At each visit throughout adolescence
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).	At each visit

System/Concern

Evaluation

Frequency

Development

Monitor developmental progress & educational needs.

At each visit

Neurologic

Assess cognitive function.
Assess for new or increasing seizures.
Assess for new manifestations such as movement disorders &/or spasticity.

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills
Assess for contractures.

Neurobehavioral/
Psychiatric

Behavioral assessment for ASD, ADHD, anxiety, depression, &/or psychosis

Feeding/
Gastrointestinal

Measurement of growth parameters
Eval of nutritional status & safety of oral intake
Assessment for gastrointestinal dysmotility

Ophthalmologic involvement

Dilated eye exam

Per treating ophthalmologist(s)

Respiratory

Consider PFTs & spirometry to assess respiratory complications in those w/progressive neuromuscular compromise.

As needed

Endocrine

Assess pubertal development

At each visit throughout adolescence

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).

At each visit

From: IRF2BPL-Related Disorder

GeneReviews^® [Internet].

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

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