Table 5.

Treatment of Manifestations in Individuals with PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM based on specific seizure type & frequency by experienced neurologist
  • A large majority of affected persons have seizures, incl frequent infantile spasms, which can be difficult to control.
  • Polytherapy w/valproic acid & lamotrigine appears most effective in ↓ drug-resistant seizures, but 2/3 of affected persons continue to have daily seizures. 1
  • Treat seizures promptly & aggressively, as poor seizure control frequently results in ↓ in function & health. 2
  • Education of parents/caregivers 3
Poor weight
gain / Failure
to thrive /
Aspiration
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding &/or respiratory issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia, incl episodes of aspiration pneumonia
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Visual
impairment 		Standard therapy per ophthalmologist
Hearing
impairment 		Standard therapy per audiologist
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; DD = developmental delay; FTT = failure to thrive; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

1.
2.

Poor seizure control worsens feeding (increasing the likelihood that a gastrostomy tube will be needed) and increases the risk for pneumonia. Overall development can be delayed or impaired through uncontrolled seizures.

3.

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: PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia

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