Use of the experience sampling method in adolescents with Duchenne muscular dystrophy: a feasibility study.

Experience sampling methods (ESM) using mobile health (mHealth) technology with a smartphone application are increasingly used in clinical practice and research. Still, recommendations are limited in young people, and adaptations may be necessary. Patients with Duchenne muscular dystrophy (DMD) are chronically treated with steroids from a young age.

Long-term outcomes for females with early-onset dystrophinopathy.

Aim: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.

Method: Twelve females with early-onset dystrophinopathy were followed for a median period of more than 17 years (range 1-36).

Results: One patient died owing to end-stage cardiac failure.

Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1?

The presence of neurocognitive and behavioral problems are common features in various neurogenetic disorders. In Duchenne muscular dystrophy (DMD), these problems have been linked to mutations along the dystrophin gene affecting different brain dystrophin isoforms. However, comparable cognitive and behavioral problems have been found in Neurofibromatosis type 1 (NF1).

Computerized working memory training in males with Duchenne muscular dystrophy: A single case experimental design study.

Learning disabilities (LDs) and working memory problems (WM) are common brain-related comorbidities in Duchenne muscular dystrophy (DMD). Despite growing evidence on the efficacy of computerized WM training in children with LDs, research in DMD is lacking. This exploratory study assessed whether training (1) improves dystrophin-associated WM problems in DMD, (2) effects are present at post-intervention, 3 and 8 months follow-up, and (3) improves problems that arise from their LDs.

Attainment of personal goals in the first year of intrathecal baclofen treatment in dyskinetic cerebral palsy: a prospective cohort study.

Purpose: To assess attainment of individual treatment goals one year after intrathecal baclofen (ITB) pump implantation in individuals with dyskinetic cerebral palsy (CP).

Materials And Methods: A multi-center prospective cohort study was conducted including 34 non-walking individuals with severe dyskinetic CP, classified as Gross Motor Function Classification System (GMFCS) IV/V, aged 4-24 years, 12 months after pump implantation. The main outcome measure was Goal Attainment Scaling (GAS).