Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings
| Autor: | H. M. Saal, K. N. Rosenbaum, M. S. Cohen, C. A. Samango‐Sprouse, D. R. Vaught, D. A. Custer, C. J. Tifft, H. J. Stern |
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| Rok vydání: | 1995 |
| Předmět: |
Male
medicine.medical_specialty Pediatrics Psychometrics Eye disease Gross motor skill Motor Activity Muscle tone Goldenhar Syndrome medicine Humans Genetics (clinical) Intelligence Tests business.industry Infant Dysostosis Cognition Prognosis medicine.disease Hemifacial microsomia medicine.anatomical_structure Child Preschool Evoked Potentials Auditory Medical genetics Female business |
| Zdroj: | American Journal of Medical Genetics. 60:535-540 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | We studied the neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum (OAV) and determined if certain physical manifestations were indicative of a poor neurodevelopmental prognosis. Twenty-four patients with OAV, aged birth to 57 months, were seen in the Department of Medical Genetics at Children's National Medical Center for multidisciplinary evaluations, including neurodevelopmental assessments. Fifty-eight percent of these children scored more than 2 standard deviations below the mean in at least one domain of development. There was no difference in developmental outcome of boys versus girls, children affected unilaterally on the right side versus left side, and those with severe clinical manifestations versus those with a milder form. Children with OAV and abnormal muscle tone had lower cognitive, gross motor, and expressive language scores (P = 0.05, P = 0.002, and P = 0.02, respectively). Those affected bilaterally had lower cognitive, fine motor, receptive language, and expressive language scores (P = 0.06, P = 0.03, P = 0.03, P = 0.02, respectively). Children with cervical spine abnormalities had lower cognitive, fine motor, and expressive language scores (P = 0.02, P = 0.04, and P = 0.04, respectively). We conclude that infants and toddlers with OAV are at increased risk for neurodevelopmental delay, especially those with abnormal muscle tone, bilateral involvement, and cervical vertebral anomalies. The complexity of the neurodevelopmental problems is strongly suggestive of central nervous system disturbances. Patients with OAV need comprehensive evaluation by a multidisciplinary team to define potential neurodevelopmental delays, allow for early intervention services, and promote an optimal developmental outcome. |
| Databáze: | OpenAIRE |
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