Table 5.

Treatment of Manifestations in Individuals with SPTBN4 Disorder

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.
  • A ketogenic diet has been used safely in at least 1 affected person [X Ortiz-Gonzalez, personal experience].
  • Education of parents/caregivers 1
Cortical visual impairment
  • No specific treatment
  • Early intervention to help stimulate visual development
Hearing loss Hearing aids may be helpful; per otolaryngologist.Community hearing services through early intervention or school district
Respiratory distress/failure Ventilatory support (e.g., BiPAP) as needed
Sialorrhea Consider medical mgmt (Robinul® or Botox® injections) if severe.
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Bowel dysfunction Stool softeners, prokinetics, osmotic agents, or laxatives as needed for constipation
Spasticity /
Joint contractures 		Orthopedist / physical medicine & rehab / PT/OT incl stretching
  • To help avoid contractures & falls
  • Consider need for positioning & mobility devices, disability parking placard.
Family /
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies
  • Ongoing assessment for need of 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 regarding common seizure presentations is appropriate. For information on nonmedical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: SPTBN4 Disorder

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