Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients’ and parents’ quality of life perception. Methods: This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3–22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio. Results: Quality of life global scores were impaired both in parents’ and children’s perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10–100) for physical functioning, 74.23 (range 30–100) for emotional functioning, 62.64 (range 10–100) for social functioning, and 56 (range 15–92) for school functioning. Conclusions: In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception.

Background: 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. Methods: This was an observational multicenter study. Reported sleep quality was assessed using the Pediatric Daytime Sleepiness Scale (PDSS) and Pediatric Sleep Questionnaire (PSQ). Sleep quality was correlated to motor function (6 min walk test, 6MWT and grip strength; pulmonary function (predicted Forced Vital Capacity%, FVC% pred.); executive function assessed by BRIEF-2; autism traits assessed by Autism Spectrum Screening Questionnaire (ASSQ) and Repetitive Behavior Scale-revised (RBS-R); Quality of life (PedsQL) and disease burden (Congenital Childhood Myotonic Dystrophy Health Index, CCMDHI). Results: Forty-six patients were included, 33 CDM and 13 ChDM, at a median age of 10.4 and 15.1 years. Daytime sleepiness and disrupted sleep were reported by 30% children, in both subgroups of CDM and ChDM. Daytime sleepiness correlated with autism traits in CDM (p < 0.05). Disrupted sleep correlated with poorer executive function (p = 0.04) and higher disease burden (p = 0.03). Conclusions: Sleep issues are a feature of both CDM and ChDM. They correlate with behavioral issues and impact on disease burden.

Aim: To study unexplored neuropsychological domains in the characterization of the Central Nervous System (CNS) involvement in Duchenne Muscular Dystrophy (DMD) that could be relevant based on the recent findings about dystrophin expression in human CNS.Method: A sample of DMD individuals (n = 20) underwent a neuropsychological battery encompassing standard cognitive assessments but also less explored social cognition skills. Wechsler scales and a developmental neuropsychological assessment (NEPSY-II) were adopted.Results: Our sample performed significantly worse than the reference scores in the “social cognition” sub-items of the NEPSY-II; the difference persisted even when splitting the sample by Dp140 depletion or cognitive deficit. The difference in the “affect recognition” scores between the Dp140 + and the Dp140− subgroups was confirmed even after excluding the subjects with a cognitive deficit.Interpretation: Dystrophin is highly expressed in structures involved in the brain networks underlying some social cognition skills. Our results, which provide additional preliminary evidence of a possible specific impairment in this area, underscore the importance of considering social cognition as another feature of the CNS phenotype of DMD, consistent with a few other previous reports.

Background: Spinal Muscular Atrophy type 1 (SMA type 1) is a genetic neuromuscular disease that typically presents before 6 months of age and is characterized by profound hypotonia, progressive muscle weakness, and early involvement of respiratory and bulbar musculature. Swallowing impairment (dysphagia) is a hallmark of SMA type 1 and significantly contributes to morbidity. Despite the documented benefits of disease-modifying therapies (DMTs) in terms of enhanced survival and motor outcomes, their impact on swallowing remains understudied. Aim: This study aims to longitudinally characterize swallowing function in children with SMA type 1 treated with DMTs, while contextualizing these findings in relation to the patients’ current motor abilities and cognitive performance. Materials and Methods: A single-center, longitudinal, observational study was conducted at IRCCS Besta, Milan, Italy, from 2021 to 2025. Swallowing function was evaluated using four validated scales (MAS, OrSAT, FILS, and p-FOIS), while motor and cognitive functions were assessed using CHOP-INTEND and age-appropriate cognitive tests (DQ/IQ). Patients were stratified by baseline swallowing status, pharmacological therapy, and age at DMT administration. Non-parametric statistical tests were applied. Results: No statistically significant changes in swallowing function were observed over one year in the overall cohort or its subgroups, despite significant improvements in motor function. MAS/e, FILS, and p-FOIS showed moderate associations with CHOP-INTEND and DQ/IQ scores. Conclusions: Swallowing function in children with SMA type 1 remained largely stable, while motor function significantly improved over one year, regardless of baseline swallowing status, DMT type, and age at administration. These findings underscore the need for standardized, longitudinal assessments of swallowing, motor, and cognitive functions in the management of SMA type 1.

We read with interest the recent study by Zaidman et al

Background: Disease-modifying therapies (DMTs) have transformed the natural history of spinal muscular atrophy (SMA) type 1, revealing heterogeneous developmental trajectories and renewing interest in cognitive and language outcomes beyond gross motor function. Within an embodied cognition framework, sensorimotor experience, object manipulation, and interactions with the environment may shape early cognitive development. This study aimed to describe the cognitive, language, and motor development of treated children with SMA type 1 and to explore associations between gross motor abilities and neurodevelopmental outcomes. Methods: A retrospective observational study included 32 children aged 18–30 months with confirmed SMA type 1. Participants were assessed using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) at baseline (T0) and both CHOP-INTEND and the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) at the time of neurodevelopmental assessment (T1). Associations among Fine Motor, Cognitive, Language, and Gross Motor scores were examined using Spearman’s correlations and multivariable rank-based regression. Results: Fine Motor scores showed inter-individual variability and were correlated with Cognitive (ρ = 0.647, p < 0.001) and Language (ρ = 0.753, p < 0.001) scores. The association between Fine Motor and Cognitive performance remained robust even after adjustment for gross motor function, assessed by CHOP-INTEND, indicating that fine motor ability is linked to cognitive outcome irrespective of overall motor severity. Conclusions: In our cohort, fine motor ability was associated with cognitive and language outcomes, regardless of gross motor severity. These findings suggest the important role of neurodevelopmental components, beyond gross motor function alone, supporting their systematic integration into the clinical characterization of children with treated SMA type 1.