Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with ARID1B-RD

System/ConcernEvaluationComment
Eyes Ophthalmologic evalAssess for myopia, astigmatism, & strabismus.
ENT Audiologic evalAssess for hearing loss (even if newborn hearing screen is normal).
Cardiovascular Cardiology eval
  • ARID1B-CSS: Echocardiogram to evaluate for structural cardiac defects
  • ARID1B-ID: Consider an echocardiogram in infancy. 1, 2
Respiratory Assess for signs & symptoms of obstructive sleep apnea.If present, consider ENT or sleep clinic evaluation &/or polysomnography.
Gastrointestinal/
Feeding 		Assess growth parameters.Consider bone age studies or other hormonal assessments if person has short stature ↓ predicted mid-parental height.
Assess feeding & nutritional status.Refer to gastroenterologist or feeding specialist, as needed, for persistent feeding issues.
Genitourinary Assess males for cryptorchidism.Urologic evaluation if cryptorchidism present
Renal ultrasoundTo evaluate for occult renal malformations
Musculoskeletal Clinical assessment for scoliosisConsider referral to orthopedist, if severe.
Neurologic Neurologic evalIncl EEG & brain MRI, if indicated.
Psychiatric/
Behavioral 		Neuropsychiatric evalScreen persons age >12 mos for behavior concerns incl ADHD &/or traits suggestive of ASD.
Miscellaneous/
Other 		Consultation w/clinical geneticist or genetic counselor
Developmental assessmentIncl evaluation of motor, speech/language, general cognitive, & vocational skills.

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder

1.

An echocardiogram is recommended for those individuals with ARID1B-CSS. Although cardiac anomalies have not been described in individuals with ARID1B-ID, they can be a component of mild ARID1B-CSS and therefore a cardiology evaluation should be considered [Mannino et al 2018].

2.

Echocardiogram may not be warranted in older children without obvious cardiovascular signs or symptoms based on exam.

From: ARID1B-Related Disorder

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