Developmental medicine and child neurology
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Dev Med Child Neurol · Oct 2012
Case ReportsFamilial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. ⋯ All four family members had the same PRRT2 c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine.
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Dev Med Child Neurol · Sep 2012
ReviewEarly sucking and swallowing problems as predictors of neurodevelopmental outcome in children with neonatal brain injury: a systematic review.
Early sucking and swallowing problems may be potential markers of neonatal brain injury and assist in identifying those infants at increased risk of adverse outcomes, but the relation between early sucking and swallowing problems and neonatal brain injury has not been established. The aim of the review was, therefore, to investigate the relation between early measures of sucking and swallowing and neurodevelopmental outcomes in infants diagnosed with neonatal brain injury and in infants born very preterm (<32wks) with very low birthweight (<1500g), at risk of neonatal brain injury. ⋯ Based upon the results of this review, there is currently insufficient evidence to clearly determine the relation between early sucking and swallowing problems and neonatal brain injury. Although early sucking and swallowing problems may be related to later neurodevelopmental outcomes, further research is required to delineate their value in predicting later motor outcomes and to establish reliable measures of early sucking and swallowing function.
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Dev Med Child Neurol · Sep 2012
Chronic pain, fatigue, and depressive symptoms in adults with spastic bilateral cerebral palsy.
To investigate the prevalence and co-occurrence of chronic pain, fatigue, and depressive symptoms in adults with spastic bilateral cerebral palsy (SBCP) and explore associations of chronic pain and fatigue with depressive symptoms and daily functioning. ⋯ These findings suggest that adults with SBCP are severely affected by chronic pain, fatigue, and depressive symptoms, in addition to their spastic paresis.
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Dysautonomia after brain injury is a diagnosis based on fever, tachypnea, hypertension, tachycardia, diaphoresis, and/or dystonia. It occurs in 8 to 33% of adults with brain injury and is associated with poor outcome. We hypothesized that children with brain injury with dysautonomia have worse outcomes and prolonged rehabilitation, and sought to determine the prevalence of dysautonomia in children and to characterize its clinical features. ⋯ Dysautonomia is common in children with brain injury and is associated with prolonged rehabilitation. Prospective study and standardized diagnostic approaches are needed to maximize outcomes.