Management

While no consensus clinical diagnostic criteria for Chudley-McCullough syndrome have been published, several authors have suggested diagnostic criteria.

Management
Treatment of manifestations:Newborn hearing screening (NBHS) should be completed by age one month and early intervention begun by age six months. Hearing aids and/or cochlear implants for hearing loss; antiepileptic drugs for seizures; education tailored to degree of intellectual, visual, and hearing abilities.

Neurology referral should be arranged for all patients regardless of the clinical signs of seizures, neurodevelopmental disorder, or a normal neurologic examination, so that brain imaging can be performed to assess for brain anomalies and neurodevelopmental evaluation can be performed.

Surveillance:Serial audiologic examinations; brain imaging as warranted by neurology to monitor presence or progression of brain abnormalities; monitor developmental progress and educational needs.

Evaluation of relatives at risk: With limited exceptions, it is appropriate to clarify the genetic status of siblings of a proband with CMCS; early identification of infants and children with hearing loss and brain malformations allows appropriate support and management to be provided to the child and family.