Diaphragmatic dysfunction in Collagen VI myopathies.

Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1-3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe (n = 3), Moderate-Progressive (n = 2) and Mild (n = 2) according to clinical disease presentation. Seven patients (aged 6-28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the motor function measure scale. Diaphragmatic dysfunction at rest was observed in all the Early-Severe and Moderate-Progressive patients. During a voluntary sniff maneuver diaphragmatic dysfunction was observed in all patients, as assessed by a negative gastric pressure. All patients had diaphragmatic fatigue assessed by a tension-time index over the threshold of 0.15. Diaphragmatic dysfunction during a maximal voluntary maneuver and diaphragmatic fatigue are constant features in Collagen VI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.

[The effectiveness of constraint-induced movement therapy for children with hemiplegia following acquired brain injury]. / Intérêt de la thérapie par contrainte induite chez l'enfant hémiplégique après lésion cérébrale acquise.

UNLABELLED: Constraint-induced movement therapy is a promising technique for improving upper limb function in adults with hemiplegia. It involves restraint of the non-involved limb and intensive movement practice with the paretic limb. Although the technique has been applied successfully to children with cerebral palsy, only two studies have used it in children with acquired brain injury. OBJECTIVE: To assess the feasibility and efficacy of constraint-induced movement therapy in children with acquired brain injury. METHODS: We used a single-subject experimental design in three children (aged five at the time of the intervention) with hemiplegia in the chronic phase following acquired brain injury. The intervention involved restraint of the unaffected arm with a Mayo Clinic elbow brace for seven hours a day in a hospital setting, together with three hours a day of physical and occupational therapy rehabilitation for five days a week for two weeks. The children were assessed twice at baseline and then once immediately post-treatment and again two months post-treatment. Assessment included a range of timed, quantitative measures of upper limb use, assessment of unilateral spatial neglect and qualitative assessment by therapists and parents in terms of activities of daily living. RESULTS: The three children completed the full protocol and improved significantly in all timed, quantitative tests of motor function. These improvements were partially maintained at two months. No improvement in unilateral spatial neglect was found in the paper-and-pencil tasks, although less spatial neglect was observed in activities of daily living such as eating and walking. CONCLUSION: Constraint-induced movement therapy appears to be both feasible and efficient in children with acquired brain injury.