Table 4.

Treatment of Manifestations in Individuals with TRPM3-Related Neurodevelopmental Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Ataxia Physical medicine & rehab / PT & OT to help avoid fallsConsider need for mobility devices, disability parking placard.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder. 1
  • Education of parents/caregivers 2
Ophthalmologic involvement By ophthalmologistTreatment of refractive errors &/or strabismus
Low vision services
  • Children: through early intervention programs &/or school district
  • Adults: referral to low vision clinic &/or community vision services
Musculoskeletal manifestations Standard treatments for talipes equinovarus, hip dysplasia, scoliosis, & patellar dislocations
Hearing Hearing aids may be helpful per otolaryngologistCommunity hearing services through early intervention or school district
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.

A well-known anti-seizure medication, primidone, has been tried in several affected individuals [D Dyment, personal communication]. The use of primidone has not been associated with any formal scientific study and no outcomes in individuals with TRPM3-NDD have been reported.

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.

From: TRPM3-Related Neurodevelopmental Disorder

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