Table 5.

Treatment of Manifestations in Individuals with Hypomyelination and Congenital Cataract

Manifestation/
Concern		TreatmentConsiderations/Other
Cataract Cataract extractionUsually in the first months of life
DD/ID
  • Adjuvant therapies incl PT, OT, & speech therapy for persons w/identified DDs
  • Individualized education plans for learning disorders & school performance issues
Spasticity
  • Pharmacologic agents (e.g., baclofen, incl intrathecal baclofen)
  • Orthopedics / physical medicine & rehab / PT/OT incl stretching to help avoid contractures & falls
Consider need for positioning & mobility devices, disability parking placard.
Ataxia Physical medicine & rehab
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for HCC.
  • Education of parents/caregivers 1
Scoliosis & contractures Prevention/treatment per orthopedist
Feeding Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia

ASM = anti-seizure medication; DD = developmental delay; HCC = hypomyelination and congenital cataract; ID = intellectual disability; 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: Hypomyelination and Congenital Cataract

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