Use and tolerability of a side pole static ankle foot orthosis in children with neurological disorders.

Background: Transverse-plane foot deformities are a frequently encountered issue in children with neurological disorders. They are the source of many symptoms, such as pain and walking difficulties, making their prevention very important.

Objectives: We aim to describe the use and tolerability of a side pole static ankle foot orthosis used to prevent transverse-plane foot deformities in children with neurologic disorders.

Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy.

Objectives: To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy.

Design: Observational study based on data previously collected from several cohorts.

English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.

Objective: To develop and validate an English version of the Neuromuscular (NM)-Score, a classification for patients with NM diseases in each of the 3 motor function domains: D1, standing and transfers; D2, axial and proximal motor function; and D3, distal motor function.

Design: Validation survey.

Setting: Patients seen at a medical research center between June and September 2013.

Influence of a two-year steroid treatment on body composition as measured by dual X-ray absorptiometry in boys with Duchenne muscular dystrophy.

Steroids are nowadays routinely used as a long-term treatment in Duchenne muscular dystrophy (DMD). Their effects on body composition were assessed using dual X-ray absorptiometry. The study followed over 2 years 29 genetically confirmed DMD patients: 21 in the steroid-treated group and 8 in the steroid-naïve group.

Rasch analysis of clinical outcome measures in spinal muscular atrophy.

Introduction: Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied to 9 motor scales in spinal muscular atrophy (SMA).

Methods: Data from all 3 SMA types were provided by research groups for 9 commonly used scales.

Motor function measure: validation of a short form for young children with neuromuscular diseases.

Objective: To validate a useful version of the Motor Function Measure (MFM) in children with neuromuscular diseases aged <7 years old.

Design: Two prospective cohort studies that documented the MFM completion of children aged between 2 and 7 years old.

Setting: French-speaking rehabilitation departments from France, Belgium, and Switzerland.

Responsiveness of the motor function measure in patients with spinal muscular atrophy.

Objective: To assess the ability of the Motor Function Measure (MFM) to detect changes in the progression of spinal muscular atrophy (SMA).

Design: Observational, retrospective, multicenter cohort study.

Setting: Seventeen departments of pediatric physical medicine.

Responsiveness of the motor function measure in neuromuscular diseases.

Objectives: To study the responsiveness (sensitivity to change) of the Motor Function Measure (MFM) in detecting change in neuromuscular disease patients with the intent of using this measure in future clinical trials.

Design: Prospective cohort observational study.

Setting: Inpatient and outpatient facilities for follow-up and treatment of neuromuscular diseases.

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.

A 7-year longitudinal follow-up of intellectual development in children with congenital hemiplegia.

Aims: Our aim was to examine intellectual development in children with congenital hemiplegia from early childhood to adolescence.

Method: Full-scale IQ (FIQ), Verbal IQ (VIQ), and Performance IQ (PIQ) scores were measured in 32 participants (19 males, 13 females) with congenital hemiplegia at mean ages of 4 years 6 months (SD 7mo; 31 participants), 7 years (SD 6mo; 23 participants), and 14 years (SD 1y 5mo; 26 participants).

Results: The FIQ and VIQ scores did not change with age, but the PIQ declined significantly (0.

Monitoring changes and predicting loss of ambulation in Duchenne muscular dystrophy with the Motor Function Measure.

Aim: To assess changes in motor function in patients with Duchenne muscular dystrophy using the Motor Function Measure (MFM).

Method: Three studies were performed. Two studies included only physiotherapy-treated patients, with 13 patients (males mean age 11y 7mo, SD 1y 10mo, range 8-14y) in the 3-month study and 41 patients (males mean age 14y 1mo, SD 5y 5mo, range 6-32y) in the 1-year study.

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up.

Background: Duchenne muscular dystrophy (DMD), an X-linked disorder due to lack of dystrophin, is associated with muscle weakness and myocardial dysfunction. Although preliminary data support the efficacy of angiotensin-converting enzyme inhibitors on left ventricular (LV) function, our aim was to examine the long-term impact of a preventive treatment with perindopril on mortality in children with DMD.

Methods: Patients with DMD between the ages of 9.

[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by motoneuron degeneration in the anterior horn of the spinal cord and in the bulbar nuclei. The various types of SMA are linked to the 5q13 locus in 95 % of cases. In the absence of an effective specific treatment, orthopaedic and respiratory management can significantly improve the prognosis.

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Introduction: FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I). Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardation associated with structural brain abnormalities.

Patients And Methods: We studied cerebral MRIs in twelve patients with FKRP-associated muscular dystrophy presenting in infancy or early childhood, at ages between 14 months and 43 years.

A motor function measure for neuromuscular diseases. Construction and validation study.

A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6-62 years. Seventy-two patients had Duchenne muscular dystrophy, 32 Becker muscular dystrophy, 30 limb-girdle muscular dystrophy, 39 facio-scapulo-humeral dystrophy, 29 myotonic dystrophy, 21 congenital myopathy, 10 congenital muscular dystrophy, 35 spinal muscular atrophy and 35 hereditary neuropathy.