Table 4.

Treatment of Manifestations in Individuals with 15q13.3 Recurrent Deletion

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric disorders Standard treatment per psychologist/psychiatrist
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Use of valproate has been successful in some affected persons. 1
  • Oxcarbazepine led to clinical worsening in 1 affected person. 1
  • Ketogenic diet & cannabidiol have been tried in 1 person each, w/no efficacy. 1
  • Education of parents/caregivers 2
Congenital heart defects Standard treatment per cardiologist
Eyes Standard treatment per ophthalmologistRefractive errors, strabismus
Hearing Grommets in recurrent glue ear & middle ear infections
Renal anomalies /
Hydronephrosis 3		Standard treatment per urologist &/or 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; OT = occupational therapy; PT = physical therapy

1.
2.

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.

3.

It is unclear whether renal anomalies are a component of this condition. However, if renal anomalies are present, treatment is the same as for those in the general population.

From: 15q13.3 Recurrent Deletion

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