Browse Items (34 total)

BACKGROUND: Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory…

BACKGROUND: Pantothenate kinase-associated neurodegeneration is characterized by severe, progressive dystonia. This study aims to describe the reported usage of cannabis products among children with pantothenate kinase-associated neurodegeneration.…

Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature,…

To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances…

We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex. Eight outpatients with tuberous…

Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in…

Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database.…

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping…

This study explored the safety and efficacy of synthetic melatonin in the treatment of sleep problems in 20 children with developmental disabilities, in a randomized, double-blind, placebo-controlled 6-week trial of melatonin versus placebo. All but…

Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling…

OBJECTIVE:: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness. STUDY DESIGN:: A full population survey,…

BACKGROUND AND AIMS:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about…

Stroke affects 2.7 children per 100,000 annually, leaving many of them with lifelong residual impairments despite intensive rehabilitation. In the present study the authors evaluated the effectiveness of 48 hours of transcutaneous functional…

Objectives of this review were to examine definitions and background of palliative care, as well as address whether there is an increased need for palliative care education among neurologists. The review also explores what literature exists regarding…

The role of brain biopsy is well established in patients with neoplastic lesions, with a diagnostic yield approaching 95%. The diagnostic yield of brain biopsy in adults with neurological decline varies from 20% to 43%. Only a few studies have…

We studied the frequency and consequences of incidental neuroimaging findings in 400 otherwise healthy, nonacute pediatric headache patients through a retrospective, cross-sectional analysis. We excluded patients with currently recommended clinical…

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis.…

Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red…

Disorders that affect movement in children are relatively common. However, they have received little attention, especially when compared with epilepsy and neuromuscular disorders. In this review article, we address the major types of movement…

Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be…

Patients with Niemann-Pick type D have been traced to a single Acadian ancestor in Nova Scotia. The objective of this study was to describe the clinical course. A cohort of children with Niemann-Pick type D was identified by chart review. Some…

Recent studies and consensus statements have expressed the need to involve palliative care services in the care of children with progressive neuromuscular diseases (PMD), yet there have been no reviews of the utilization of palliative care services…

Recent studies and consensus statements have expressed the need to involve palliative care services in the care of children with progressive neuromuscular diseases (PMD), yet there have been no reviews of the utilization of palliative care services…

We aimed to characterize the parent experience of caring for an infant with neonatal encephalopathy. In this mixed-methods study, we performed semistructured interviews with parents whose infants were enrolled in an existing longitudinal cohort study…
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