Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with RERE-Related Disorders]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	May incl EEG & brain MRI, as clinically indicated
Psychiatric/ Behavioral	Neuropsychiatric eval	Screen individuals age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Developmental assessment	Incl evaluation of motor, speech/language, general cognitive, & vocational skills.
Eyes	Ophthalmologic eval	To assess for structural eye anomalies & vision problems
Hearing	Audiologic eval	To assess for sensorineural hearing loss
Cardiovascular	Echocardiogram	For eval of congenital heart defects
Gastrointestinal/ Feeding	Assessment for signs & symptoms of GERD
Clinical assessment for sucking/swallowing difficulties	Consider swallow study.
Genitourinary	Renal ultrasound	There should be a high index of suspicion for vesicoureteral reflux, which is best evaluated using a VCUG.
Assessment for cryptorchidism & hypospadias in males	Refer to urologist as indicated.
Musculoskeletal	Clinical eval for congenital hip dysplasia in infants	Consider a hip ultrasound & referral to orthopedist.
Physical exam for signs of scoliosis	Consider referral to orthopedist if severe.
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Neurologic

Neurologic eval

May incl EEG & brain MRI, as clinically indicated

Psychiatric/
Behavioral

Neuropsychiatric eval

Screen individuals age >12 mos for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.

Developmental assessment

Incl evaluation of motor, speech/language, general cognitive, & vocational skills.

Eyes

Ophthalmologic eval

To assess for structural eye anomalies & vision problems

Hearing

Audiologic eval

To assess for sensorineural hearing loss

Cardiovascular

Echocardiogram

For eval of congenital heart defects

Gastrointestinal/
Feeding

Assessment for signs & symptoms of GERD

Clinical assessment for sucking/swallowing difficulties

Consider swallow study.

Genitourinary

Renal ultrasound

There should be a high index of suspicion for vesicoureteral reflux, which is best evaluated using a VCUG.

Assessment for cryptorchidism & hypospadias in males

Refer to urologist as indicated.

Musculoskeletal

Clinical eval for congenital hip dysplasia in infants

Consider a hip ultrasound & referral to orthopedist.

Physical exam for signs of scoliosis

Consider referral to orthopedist if severe.

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

From: RERE-Related Disorders

GeneReviews^® [Internet].

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

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