Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with 17q12 Recurrent Duplication

System/ConcernEvaluationComment
Constitutional Growth assessment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral
Neuropsychiatric evalIn persons age >12 mos: screen for concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Gastrointestinal/
Feeding
Consultation w/gastroenterologist &/or feeding team for GI concerns, suspected dysphagia, or feeding difficulties
Eyes Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, strabismus
Endocrine Assess for growth issues, dehydration, & signs/symptoms of diabetes or electrolyte disturbances.
Cardiovascular Echocardiogram
Renal Kidney ultrasound exam
Genetic
counseling
By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of 17q12 recurrent duplication in order to facilitate medical & personal decision making
Family support
& resources
Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GI = gastrointestinal; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: 17q12 Recurrent Duplication

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