Table 5.

Treatment of Manifestations in Individuals with Koolen-de Vries Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Feeding issues & motor delay related to hypotonia Early intervention / feeding therapy / physiotherapyNasogastric tube feeding may be required for neonates w/severe feeding issues.
Growth hormone deficiency Growth hormone therapy per endocrinologist
Developmental delay / Intellectual disability See Developmental Delay / Intellectual Disability Management Issues.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective 1
  • Education of parents/caregivers 2
Eyes OphthalmologistRefractive errors, strabismus
Ophthalmic subspecialistMore complex findings (e.g., cataract, retinal dystrophy)
Low vision services
  • Children: through early intervention programs &/or school district
  • Adults: low vision clinic &/or community vision services / OT / mobility services
Hearing loss Standard mgmt per audiologist/otolaryngologist
Scoliosis / Hip dislocation / Positional deformities of feet Standard orthopedic care
Cardiac, renal, urologic, & other medical issues Standard mgmt of specific issue
Cryptorchidism Treatment by urologist, if indicated
Multiple nevi Regular checkup by dermatologist if multiple nevi are present.
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

1.

One affected infant with seizures had a partial response to levetiracetam, but complete control was achieved when topiramate was added to the anti-seizure regimen [Paolo et al 2021].

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: Koolen-de Vries Syndrome

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