Table 3b.

Recommended Evaluations Following Initial Diagnosis in a Male with Occipital Horn Syndrome

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • To incl brain MRI/MRA for vascular tortuosity
  • Assess for signs/symptoms of autonomic dysfunction (orthostatic hypotension, chronic diarrhea). 1
Development Developmental assessment
  • To incl adaptive, cognitive, & speech-language eval
  • Evaluate need for additional educational support.
Bladder diverticula Pelvic ultrasound
Joint laxity Referral to pediatric rheumatologist
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of OHS to facilitate medical & personal decision making

MOI = mode of inheritance; OHS = occipital horn syndrome

1.

Some medical centers have clinical autonomic testing laboratories.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: ATP7A-Related Copper Transport Disorders

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