Journal of child neurology
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Central sleep apnea is not uncommon in children with neurologic disorders. The mechanisms include increased ventilatory chemosensitivity to carbon dioxide level. Conventional treatments include oxygen, noninvasive ventilation, and in patients with heart failure, improving cardiac output. ⋯ On a repeat study, central sleep apnea was improved. We hypothesize that sustained-release melatonin, by improving sleep continuity and reducing arousals, might improve central sleep apnea. Studies are needed to test the hypothesis.
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There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex. The authors studied 19 children with tuberous sclerosis complex under age 4, and 20 age-matched controls, using a familiar-unfamiliar faces paradigm. ⋯ The longest N290 latency was seen in (1) children with autism and tuberous sclerosis complex and (2) children with temporal lobe tubers. This study is the first to quantify atypical face processing in children with tuberous sclerosis complex. This functional impairment may provide insight into a mechanism underlying a pathway to autism in tuberous sclerosis complex.
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Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 2½-year-old boy presenting with psychomotor retardation, recurrent respiratory tract infections, and dysmorphic features with absence of hyperventilation or other breathing abnormalities. ⋯ Pitt-Hopkins syndrome is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and seizures. Quantitative real-time polymerase chain reaction is another method to identify TCF4 and to confirm Pitt-Hopkins syndrome diagnosis.
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Insomnia is prevalent in pediatrics, particularly in those with neurodevelopmental disorders. Gabapentin has shown promise in treating insomnia in adults. The purpose of our study was to review our experience with using gabapentin to treat insomnia in children. ⋯ The average starting dose of gabapentin was 5 mg/kg every bedtime and the maximal dose was 15 mg/kg every bedtime. At follow-up, improved sleep was noted in 78% of children. Adverse effects were noted in 6 children.
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Children with the neurofibromatosis type 1 (NF1) inherited tumor predisposition syndrome are at risk for the development of brain tumors. In addition, children with neurofibromatosis type 1 often exhibit low tone (hypotonia). In this study, the authors explored the hypothesis that hypotonia could be a clinical indicator of glioma in children with neurofibromatosis type 1. ⋯ Brain magnetic resonance imaging (MRI) was available for 19 of these children. Chi-square analysis demonstrated a statistically significant correlation between hypotonia and glioma in children with neurofibromatosis type 1 (90% sensitivity and 78% specificity). These results suggest that hypotonia might be a clinically useful indicator of brain tumor in this at-risk population.