Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.

Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.

The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden.

Purpose: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.

Materials And Methods: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects.

Wheelchair hockey improves quality of life in people with neuromuscular disease.

Background: Participation in sports is known to have positive effects on people's health and psychosocial well-being. Recently, physical activity implications for people with disabilities have been explored, showing promising results on quality of life and self-concept. However, few studies have specifically investigated the effects of participation in adaptive sports on quality of life in patients with neuromuscular disease.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective: To identify the genetic variants associated with juvenile ALS.

Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts.

Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire.

Symptoms of respiratory involvement are frequently present but overlooked by patients with Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test whether a DM-specifically designed checklist to detect symptoms of respiratory involvement (The Respicheck Questionnaire) could help patients be more aware of their respiratory problems, if any, and help clinicians in identifying potential candidates for intervention. The Respicheck questionnaire was administered to 58 consecutive adult-onset patients with genetically determined DM1 who did not complain of respiratory involvement per history at enrollment.