Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
| Autor: | Michael A. Swanson, Elaine B. Spector, Kendra Bjoraker, Sarah Dyack, M. Antoinette Hodge, Ee S. Tan, Casey Burns, Ayesha Ahmad, Sommer Gaughan, Mark Fergeson, Geralyn Creadon-Swindell, Curtis R. Coughlin, Johan L.K. Van Hove, John Christodoulou, Marisa W. Friederich |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Pediatrics Colorado Delayed Diagnosis Hyperglycinemia Hyperglycinemia Nonketotic Neuropsychological Tests Dextromethorphan Time-to-Treatment 03 medical and health sciences Epilepsy Child Development 0302 clinical medicine Sodium Benzoate Internal medicine medicine Humans Pediatrics Perinatology and Child Health Dosing Sibling Child Intelligence Tests Wechsler Preschool and Primary Scale of Intelligence business.industry Siblings Infant Newborn Infant medicine.disease Child development Early Diagnosis 030104 developmental biology Endocrinology Child Preschool Pediatrics Perinatology and Child Health Developmental Milestone Female business Excitatory Amino Acid Antagonists 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | The Journal of Pediatrics. 170:234-239 |
| ISSN: | 0022-3476 |
| Popis: | Objective To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. Study design Families were recruited with 2 siblings both affected with attenuated nonketotic hyperglycinemia. Genetic mutations were expressed to identify residual activity. The outcome on developmental progress and seizures was compared between the first child diagnosed and treated late with the second child diagnosed at birth and treated aggressively from the newborn period using dextromethorphan and benzoate at dosing sufficient to normalize plasma glycine levels. Both siblings were evaluated with similar standardized neurodevelopmental measures. Results In each sibling set, the second sibling treated from the neonatal period achieved earlier and more developmental milestones, and had a higher developmental quotient. In 3 of the 4 sibling pairs, the younger sibling had no seizures whereas the first child had a seizure disorder. The adaptive behavior subdomains of socialization and daily living skills improved more than motor skills and communication. Conclusions Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period. |
| Databáze: | OpenAIRE |
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