Table 4.

Treatment of Manifestations in Individuals with 17q12 Recurrent Duplication

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric/
behavioral disorders
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Poor weight gain / Failure to thrive Feeding therapyLow threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Abnormal vision &/or strabismus Standard treatment(s) as recommended by ophthalmologistCommunity vision services through early intervention or school district
Central visual impairment No specific treatment; early intervention to stimulate visual development
Endocrine Treatment per endocrinologist
Cardiac anomalies Treatment per cardiologist
Renal anomalies Treatment per nephrologist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: 17q12 Recurrent Duplication

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