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AIM Motor skill impairment and cognitive dysfunction are commonly reported features of neurofibromatosis type 1 (NF1). We characterized and determined the relationship between motor impairment, gait variables, and cognitive function in children and adolescents with NF1. METHOD Motor function, gait, and neurocognitive abilities were assessed in 46 children(More)
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care(More)
We conducted a prospective study over 24 months to compare health-related quality of life in surgically and medically treated patients with intractable temporal lobe epilepsy. Seizure frequency and health-related quality of life were assessed in 81 patients before and 6, 12, and 24 months after treatment. Using the Epilepsy Surgery Inventory 55 (ESI-55), we(More)
Preschool-age children with neuromuscular disorders are often excluded from clinical trials due to the lack of reliable and objective strength measures. We evaluated the reliability of measuring foot and ankle muscle strength in 60 healthy children age 2-4 years. The strength of foot inversion and eversion, ankle plantarflexion, and dorsiflexion was(More)
Charcot-Marie-Tooth disease affects foot and ankle strength from the earliest stages of the disease; however, little is known about factors influencing normal strength development or the pathogenesis of foot weakness and deformity in Charcot-Marie-Tooth disease. The authors investigated factors associated with foot and ankle strength in healthy(More)
This study established a normal middle ear resonance estimated from sweep frequency tympanometry (250-2000 Hz) and established normal equivalent ear canal volume, static acoustic admittance, and tympanometric peak pressure at 226 Hz in children with normal hearing (N = 90) and in children with severe to profound sensorineural impairments (N = 68).(More)
Dynamin-2-related centronuclear myopathy (DNM2-CNM) is a clinically heterogeneous muscle disorder characterized by muscle weakness and centralized nuclei on biopsy. There is little known about the muscle dysfunction underlying this disorder, and there are currently no treatments. In this study, we establish a novel zebrafish model for DNM2-CNM by(More)
Foot weakness occurs in many paediatric neuromuscular disorders, which overtime can cause considerable functional motor difficulties. Measuring foot strength with hand-held dynamometry is reliable in preschool-age children, but its validity in this age group is unknown. If foot strength measures are collected as endpoints in clinical trials, they should(More)
Curcumin is the newest therapeutic agent for ameliorating the clinical and neuropathologic phenotype of a mouse model of Déjérine-Sottas disease. We undertook a 12-month dose-escalation safety trial of oral curcumin in a 15-year-old Caucasian girl with Déjérine-Sottas disease (point mutation, Ser72Leu) complicated by severe weakness, scoliosis, and(More)
Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to(More)