Effects of dual tasking on postural and gait performances in children with cerebral palsy and healthy children.

Simultaneous execution of motor and cognitive tasks is embedded in the daily life of children. 53 children of 7-12 years and 22 adults (study 1), 20 healthy children and 20 children of 7-12 years with cerebral palsy (study 2) performed a Stroop-animal task simultaneously with a standing or a walking task in order to determine the attentional demand of postural control and locomotion. Dual-task cost decreased with advancing age in healthy children during balance.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical presentations in symptomatic females. We were able to specify the phenotypic heterogeneity of motor, orthopedic and respiratory involvements (severe, standard and intermediary form), of the cardiac disorder (severe, standard or absent cardiomyopathy, absence of correlation between motor and cardiac involvements), and of brain function (mental deficiency in the patients with Becker muscular dystrophy, psychopathological disorders in dystrophinopathies).

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Distal spinal-muscular atrophy 1 (DSMA1) or spinal-muscular atrophy with respiratory distress type 1 (SMARD1) is a rare neuromuscular disorder resulting from IGHMBP2 mutations. It is an autosomal recessive disease. We present the case of a 1-year-old girl admitted for respiratory failure associated with pneumonia.

Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.

Aims: Our objective was to clarify the clinical heterogeneity in Duchenne muscular dystrophy (DMD).

Methods: The French dystrophinopathy database provided clinical, histochemical and molecular data of 278 DMD patients (mean longitudinal follow-up: 14.2 years).

Self-perception of quality of life by adolescents with neuromuscular diseases.

Purpose: Little is known about quality of life of adolescents with neuromuscular diseases or the factors that influence it. We searched whether physical impairment, physical disability, and medical complications were predictors of low quality of life.

Methods: Motor function, health, orthopedic status, and rehabilitation were assessed in 43 adolescents with neuromuscular diseases (mean age, 13.