NEURODEVELOPMENTAL PROFILE OF INFANTS AND TODDLERS WITH OCULO-AURICULO-VERTEBRAL SPECTRUM AND THE CORRELATION OF PROGNOSIS WITH PHYSICAL FINDINGS

We studied the neurodevelopmental profile of infants and toddlers with oculo-auriculovertebral spectrum (OAV) and determined if certain phys ical manifestations were indicative of a poor neurodevelopmental progn osis. Twenty-four patients with OAV, aged birth to 57 months, were see n in the Department of Medical Genetics at Children's National Medical Center for multidisciplinary evaluations, including neurodevelopmenta l assessments. Fifty-eight percent of these children scored more than 2 standard deviations below the mean in at least one domain of develop ment. There was no difference in developmental outcome of boys versus girls, children affected unilaterally on the right side versus left si de, and those with severe clinical manifestations versus those with a milder form. Children with OAV and abnormal muscle tone had lower cogn itive, gross motor, and expressive language scores (P = 0.05, P = 0.00 2, and P = 0.02, respectively). Those affected bilaterally had lower c ognitive, fine motor, receptive language, and expressive language scor es (P = 0.06, P = 0.03, P = 0.03, P = 0.02, respectively). Children wi th cervical spine abnormalities had lower cognitive, fine motor, and e xpressive language scores (P = 0.02, P = 0.04, and P = 0.04, respectiv ely). We conclude that infants and toddlers with OAV are at increased risk for neurodevelopmental delay, especially those with abnormal musc le tone, bilateral involvement, and cervical vertebral anomalies. The complexity of the neurodevelopmental problems is strongly suggestive o f central nervous system disturbances. Patients with OAV need comprehe nsive evaluation by a multidisciplinary team to define potential neuro developmental delays, allow for early intervention services, and promo te an optimal developmental outcome. (C) 1995 Wiley-Liss, Inc.