Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with the 15q13.3 Recurrent Deletion

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl ADHD &/or findings suggestive of ASD, schizophrenia, & mood disorders
Neurologic Neurologic evalConsider EEG & brain MRI if seizures are a concern.
Cardiovascular Consider echocardiogram.If there are concerning clinical signs &/or symptoms
Eyes Ophthalmologic evalTo assess vision & strabismus
Hearing Audiologic evalAssess for hearing loss in those w/recurrent ear infections.
Genitourinary Consider baseline renal ultrasound. 1To assess for renal anomalies & hydronephrosis
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of 15q13.3 recurrent deletion to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

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

1.

It is unclear whether renal anomalies are a component of this condition. However, as the diagnosis is often made early in life, particularly in those with developmental delay, signs/symptoms of urinary findings may be lacking at the time of diagnosis. Baseline renal imaging, which is not invasive, is therefore left to the discretion of the treating physician.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: 15q13.3 Recurrent Deletion

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