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The authors report the case of a child with cerebral palsy and refractory epilepsy who developed nonconvulsive status epilepticus without acute medical cause treated successfully with levetiracetam. In accordance with other studies whose authors hypothesized that aggressive treatment may worsen the prognosis in elderly patients with nonconvulsive status(More)
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. OBJECTIVE To search for disease-causing mutations in a large series of Italian(More)
The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and(More)
Starting from the case of a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy, the authors apply the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) of the World Health Organization (WHO) as a comprehensive documentation tool to guide the pathway of care and illustrate a(More)
Caring for children in vegetative state (VS) or minimally conscious state (MCS) challenges parents and impacts on their well-being. This study aims to evaluate caregivers' health condition, coping, anxiety and depression levels, and how these issues relate to children's disability. 35 children with VS and MCS were administered the disability rating scale(More)
Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS.(More)