Table 3.

Treatment of Manifestations in Individuals with Microcephaly-Capillary Malformation Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID 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
Poor weight
gain / Failure
to thrive
  • Feeding therapy to optimize nutrition & weight gain
  • Gastrostomy tube placement may be required for persistent feeding issues &/or ↑ risk of aspiration.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia &/or ↑ risk of aspiration
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Central visual
impairment 		No specific treatment; early intervention to stimulate visual development
Hearing Hearing aids may be helpful; per treating audiologist/otolaryngologist.Community 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.

AED = antiepileptic drug; DD = developmental delay; 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: Microcephaly-Capillary Malformation Syndrome

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