Table 4.

Treatment of Manifestations in Individuals with ANKRD17-Related Neurodevelopmental Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
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
Psychiatric/behavioral manifestations Standard treatment per behavioral therapist &/or psychiatrist
Ophthalmologic involvement By ophthalmologistTreatment of refractive errors &/or strabismus
Poor weight gain
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues, particularly low caloric intake.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs/symptoms of dysphagia
Recurrent infections
  • Routine immunizations
  • Referral to immunologist
Genitourinary anomalies By nephrologist &/or urologist
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
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: ANKRD17-Related Neurodevelopmental Syndrome

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