Table 4.

Treatment of Manifestations in Individuals with the 16p11.2 Recurrent Deletion

Manifestation/ConcernTreatmentConsiderations/Other
Obesity Initiation of weight management & nutrition counseling:
  • Control food intake w/normal portion sizes & limitation of intake between meals.
  • Maintain active lifestyle.
  • Esp important in young children before excessive weight gain begins
  • ↑ calories specifically ingested in absence of hunger suggest that close supervision of portion size & meal times can be beneficial.
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric/Behavioral Standard treatment per psychologist &/or psychiatristSee Social/Behavioral Concerns.
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
Paroxysmal
kinesigenic dyskinesia 		Consideration of low doses of carbamazepine or phenytoin
Dystonia Standard treatment per neurologistMay incl use of antiparkinsonian drugs
Chiari I malformation / Syringomyelia Standard treatment per neurosurgeon
Scoliosis Standard treatment per orthopedist
Type II diabetes Standard treatment per endocrinologistMay incl use of an oral hypoglycemic medication in addition to healthy diet & exercise
Hearing Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Congenital heart
defect 		Standard treatment per cardiologist
Hypertension
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.

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: 16p11.2 Recurrent Deletion

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