Table 6.

CDKL5 Deficiency Disorder: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • An approach to seizure mgmt that balances seizure control w/side effects & attempts to limit number of ASMs to ideally ≤2. 1
  • Education of parents/caregivers 2
Targeted therapy for treatment of CDD-assoc epilepsySee Table 5.
Movement disorders Pharmacologic therapiesMay incl therapies such as baclofen, botulinum toxin, or other specific agents to treat movement disorders.
Poor weight gain
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when there are clinical signs of dysphagia (choking, chronic cough, history of aspiration pneumonia) or prolonged feeding times (>30 mins per meal)
Cerebral visual impairment Address in psychoeducational activities & therapies.Incl in early intervention programs &/or school district & consistent w/federal law re access to educational services by visually impaired individuals
Sleep disorders
  • Interventions (e.g., CPAP or supplemental oxygen) that address central &/or obstructive sleep apnea
  • Pharmacologic therapy to address disorders of sleep initiation & sleep maintenance 3
Excessive daytime somnolence, abnormal sleep patterns, & psychiatric behaviors can be influenced by polypharmacy as well as poor nocturnal sleep quality.
Neurobehavioral/
Psychiatric
  • Therapies to address features of ASD such as applied behavioral analysis
  • Pharmacologic therapies for anxiety
Pharmacologic therapies w/sedative side effects to be carefully weighed against overall benefits & effect on abilities to participate in education, therapies, sleep, & general quality of life.
Gastrointestinal Pharmacologic therapiesStool softeners, prokinetics, osmotic agents, or laxatives as needed. Continuous use of these agents is safe.
Musculoskeletal
  • Vitamin D supplementation if indicated
  • PT/OT
  • Referral for orthopedic surveillance & correction
Orthopedic corrections may be indicated for scoliosis &/or large joint displacements.
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.
  • Referral to community or online family support resources such as Parent to Parent

ASD = autism spectrum disorder; ASM = anti-seizure medication; CPAP = continuous positive airway pressure; OT = occupational therapy; PT = physical therapy

1.

See Therapies Under Investigation for additional proposed therapies for epilepsy that are potentially indicated based on prior use and approvals (such as for infantile spasms or Lennox-Gastaut syndrome).

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.

3.

From: CDKL5 Deficiency Disorder

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