"You Take This Day by Day, Come What May": A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy.

INTRODUCTION: Studies have reported health-related quality-of-life impacts of Duchenne muscular dystrophy (DMD); however, further research is needed to understand how those with DMD experience their condition and how psychosocial impacts evolve over time in response to disease progression. This qualitative study explores the social and emotional implications of key transitions, challenges and adaptations throughout the disease course from the perspective of patients and family caregivers. METHODS: Semi-structured interviews were conducted with men and boys with DMD, and/or their caregivers, in the USA. Thematic analysis was used to examine patterns in data collected across the interviews. RESULTS: Nineteen participants were included. Three major themes were identified: (1) barriers to participation are multifaceted; (2) an emotional journey shaped by 'inevitable progression;' (3) family provides critical tangible and emotional support. This study illustrates that psychosocial impacts of DMD are shaped by knowledge of the condition's natural history alongside other factors including the extent of social barriers, personal growth and adaptation, and family support. CONCLUSIONS: Findings provide insight into the strength and resilience with which individuals and their families respond to daily challenges and major clinical milestones and highlight the relative importance of loss of upper limb function as a transition in DMD affecting health-related quality-of-life.

Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy.

INTRODUCTION/AIMS: To better understand the disease burden faced by individuals with Duchenne muscular dystrophy (DMD) of all ages and elucidate potential targets for therapeutics, this study determined the prevalence and relative importance of symptoms experienced by individuals with DMD and identified factors associated with a higher disease burden. METHODS: We conducted qualitative interviews with individuals with DMD and caregivers of individuals with DMD to identify potential symptoms of importance to those living with DMD. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in DMD and to determine which factors are associated with a higher disease burden. RESULTS: Thirty-nine individuals, aged 11 years and above, provided 3262 quotes regarding the symptomatic burden of DMD. Two hundred participants (87 individuals with DMD and 113 caregivers) participated in a subsequent cross-sectional study. Individuals with DMD identified limitations with mobility or walking (100%), inability to do activities (98.9%), trouble getting around (97.6%), and leg weakness (97.6%) as the most prevalent and life altering symptomatic themes in DMD. The symptomatic themes with the highest prevalence, as reported by caregivers on behalf of those with DMD for whom they care, were limitations with mobility or walking (90.3%), leg weakness (89.2%), and emotional issues (79.6%). Steroid/glucocorticoid use (e.g., prednisone or deflazacort) was associated with a lower level of disease burden in DMD. DISCUSSION: There are many symptomatic themes that contribute to disease burden in individuals with DMD. These symptoms are identified by both individuals with DMD and their caregivers and have a variable level of importance and prevalence in the DMD population.

Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).

BACKGROUND: Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. This study aimed to clarify the social circumstances surrounding adult DMD patients and assess the degree of involvement of family members in their care and the associated economic burden of the disorder in Japan. METHODS: Adult DMD patients were identified through the Registry of Muscular Dystrophy (Remudy) in Japan and invited to complete a questionnaire together with a caregiver. Data on health care use, quality of life, work status, informal care, and household expenses were collected to estimate the costs associated with DMD from social and caregiver household perspectives. RESULTS: In total, 234 (63.7%) of 367 adult DMD patients (mean age, 27.4 ± 6.0; range, 20-48 years) completed the questionnaire. Of these, 38 (21%) had developmental disorders (mental retardation, autism, and learning disorders), 57 (33%) experienced bullying in school, and 44 (77%) indicated the reason for bullying to be their physical handicap. Employment histories were noted by 72 (31%), although 23 (10%) lost their jobs mainly due to physical difficulties. Of the 234 patients, 164 (74%) lived with their relatives, and 78% of care time was supplied by family members, in particular, their mothers. The mean rate of care work provided by family members was 81%. Household income of families with an adult DMD patient was lower, whereas the rate of living with parent(s) and grandparent(s) was higher, in comparison with the general Japanese population. CONCLUSIONS: Adult DMD patients in Japan experience many social difficulties from childhood up to adulthood. As adults, many DMD patients experience bullying and workplace difficulties. Families were found to provide most of the care and financial support for DMD patients. Our results suggest the need to improve public patient care systems, including financial support, to address the physical and economic burdens of care for adult DMD patients in Japan.

Development of the self-efficacy scale in caregivers of Duchenne muscular dystrophy patients.

BACKGROUND: It is important to measure the self-efficacy knowledge of the caregiver of Duchenne muscular dystrophy (DMD) patients in order to overcome the problems that arise and carry out the care process in a healthy manner. OBJECTIVE: This research was carried out to develop a self-efficacy scale in caregivers of individuals with DMD. METHODS: The study was conducted with 99 volunteer DMD caregivers to evaluate the psychometric properties of the developed scale. Exploratory Factor Analysis (EFA) was performed with the SPSS 25 Package Program to determine the factors of the scale. Confirmatory Factor Analysis (CFA) analysis was performed with AMOS 23 to confirm the factors obtained by EFA. Cronbach's alpha coefficient was used for the internal consistency of the DMD-CSES. RESULTS: A valid and reliable scale was obtained to measure the self-efficacy of caregivers of DMD patients. CONCLUSION: Although some scales have been developed to evaluate the care burden of family members who care for patient-centered symptoms and functional changes in patients with DMD, there is no single scale that adequately describes the conditions and resources of caregivers on a global scale. The search for a definitive scale is expected to continue until a definitive treatment for the disease is found. Developing a valid and reliable scale to identify the self-efficacy, knowledge, skills and resources of caregivers with a common perspective of physicians and health management team centred on patients with DMD will be effective in practice.

Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.

BACKGROUND AND OBJECTIVE: Only few studies investigated social cognition in Becker muscular dystrophy (BMD). However, brain dystrophin deficiency could be a neural substrate for cognitive, emotional, and neuropsychological features in BMD. METHODS: We compared interoceptive accuracy and interpersonal comfort distance in two brothers with BMD presenting with the same genetic deletion and a healthy control. When possible, we collected neuropsychological and psychopathological assessments. RESULTS: Our BMD patients were significantly different in interoceptive accuracy, with patient 1 being extremely accurate and patient 2 being significantly less accurate than his brother but more accurate than the control. Interestingly, they presented opposite patterns of interpersonal distance. Patient 1 was comfortable with very short interpersonal distance (≤50 cm from the confederate/object) vs the control and patient 2. By contrast, patient 2 preferred larger distance vs the control and patient 1. Patient 1 also presented difficulties in social and emotional skills on the psychopathological assessment. CONCLUSIONS: We are aware this is a small sample; nonetheless, this is also the first description of such aspects in BMD and the first report ever of such divergent behavioral pattern. As impaired social cognition affects the quality of life and social relationship, further studies are needed for a closer understanding of involved mechanisms.

Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study.

In this multi-methods study we explored the characteristics, causes and impact of anxiety in Duchenne muscular dystrophy (DMD) from the perspective of young males with DMD and their parents. Eight young males with DMD (7-18 years) and 14 parents participated in separate focus groups. Perspectives on anxiety were explored using semi-structured interview schedules. Themes were identified using Framework Analysis. Neurodevelopmental, emotional and behavioural symptom scores were obtained using standard instruments including the Strengths and Difficulties Questionnaire and Revised Children's Anxiety and Depression Scale. We identified six common anxiety characteristics: Catastrophic conclusions; Rigidly-held anxieties; Extreme distress; Social anxieties; Physical changes/needs; Unexpected/unfamiliar. Four further themes described influential systemic factors: Individual, Family, and Social responses and Physical environment and service contexts. All DMD participants had significantly higher total difficulties, emotional problems and impact scores than population norms. The Revised Children's Anxiety and Depression Scale showed low sensitivity in identifying anxiety symptoms. Fifty-seven percent (8/14) of parents who had wanted help for their son's anxiety were dissatisfied with the available support. In conclusion, anxiety can severely impact wellbeing and functioning of individuals with DMD. There are important nuances to consider when managing DMD-associated anxiety. We highlight the importance of multimodal assessment considering the multiple contexts within which anxiety arises.

The impact of clinical trial participation on quality of life and psychosocial well-being in children with Duchenne muscular dystrophy and their parents.

Clinical trials provide Duchenne muscular dystrophy (DMD) patients access to medication. Nevertheless, such involvement can impose certain burdens, as the protocol may entail strict adherence and additional demands. This study assessed the psychosocial functioning and quality of life in boys with DMD and their parents who participate in clinical trials. DMD families participating in clinical trials (n = 25) and families with DMD patients not involved in clinical trials (N = 18) were included. Questionnaires assessing psychosocial well-being and quality of life were completed by the participants and their parents. MANOVAs were employed to compare outcomes between groups. The results showed that mothers in the clinical trial group experienced significantly higher scores of somatic complaints. Fathers in the clinical trial group reported significantly fewer psychological issues compared to fathers from the other group. DMD patients participating in clinical trials reported a better overall and emotional quality of life compared to them not involved in clinical trials. This study suggests that clinical trial participation may have positive effects on quality of life and psychosocial outcomes. It highlights the importance of providing support and counseling throughout the clinical trial decision making process to minimize potential burden for both eligible and ineligible patients.

'It is easier to not allow them to see your disability straight away, to see you as a person': An Interpretative Phenomenological Analysis of video gaming from the perspectives of men with Duchenne Muscular Dystrophy.

BACKGROUND: Young men with Duchenne Muscular Dystrophy benefit from palliative care that supports their psychosocial needs. Acknowledging the sub-cultures they engage with can support their wellbeing. Anecdotal reports suggest video gaming is a sub-culture engaged with by young men with Duchenne Muscular Dystrophy. AIM: To explore the lived experience of video gaming from the perspective of young men with Duchenne Muscular Dystrophy. DESIGN: Interpretative Phenomenological Analysis approach involving in-depth interviews using a topic guide that focused on social media broadly, with reference to video gaming. Sequential interviewing was undertaken to support participation regarding fatigue and tiredness, symptoms of Duchenne Muscular Dystrophy. SETTING/PARTICIPANTS: Participants were purposefully recruited from a hospice in the North of England. Twitter was used to support recruitment. Eight young men with Duchenne Muscular Dystrophy were recruited to the study. RESULTS: Five themes were developed; 'gamer as a shared and accepted identity', 'an existential and bodily escapism', 'introspection through video gaming', 'video gaming as a release' and 'when life gives you few choices-video game'. Motivations for engagement with video gaming are diverse and reflective of the situated perspectives of young men with Duchenne Muscular Dystrophy. CONCLUSIONS: An awareness of the popular sub-cultures that young men with Duchenne Muscular Dystrophy engage with is key to building a therapeutic alliance, establishing rapport and recognising personhood in interactions between professionals and persons in palliative care settings. This study highlights the value of video gaming, offering professionals valuable insight into its placement in the daily lives of young men with Duchenne Muscular Dystrophy.

Toward patient-centered treatment goals for duchenne muscular dystrophy: insights from the "Your Voice" study.

BACKGROUND: Patient-centered research has emerged as critically important for understanding the impact of treatments on key stakeholders. The subjective experience of quality of life (QOL) is increasingly recognized as fundamental to delineating treatment goals. The present study utilized content analysis of qualitative data and quantitative analysis to highlight important domains of disease burden and underlying reasons for their importance, and to characterize goals for new treatments for Duchenne Muscular Dystrophy (DMD). RESULTS: The study sample reflected the perspectives of DMD patients and caregivers representing ambulatory, transitional, and non-ambulatory stages of disability progression (n = 20 per category). Open-ended interviews were content-analyzed and non-parametric statistical tests were used to compare ambulation groups. As patients progressed in disability, the noted DMD burdens reflected some differences in functional areas. While daily functioning and sports/recreation remained the most important priority areas across ambulation groups, "health" became less prominent as the disability progressed from ambulatory to transitional to non-ambulatory phases of disability; whereas relationships became more prominent as one progressed to the non-ambulatory phase from the ambulatory or transitional phases (Kruskall Wallis H = 12.24 and 5.28, p = 0.002 and 0.02, respectively). When asked why their burdens were important to them and how it impacted their or their child's life, self-esteem/confidence was most important for ambulatory patients, and became less prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 9.46, p = 0.009). In contrast, independence was less important for ambulatory patients, and became increasing prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 7.35, p = 0.025). Emotional functioning was most prominent for all ambulation groups on their best and worst days. Goals for new DMD treatments focused on functional goals, general QOL goals, and concerns about safety, ease of use, and effectiveness. CONCLUSION: This study provides useful information about treatment goals for DMD from the perspective of patients and their caregivers. It highlights some consistent values across the disability trajectory, as well as introducing an evolution of priorities as the person with DMD becomes more disabled. Results provide a roadmap for patient-centered DMD drug development.

Health-related quality of life in children and adolescents with Duchenne muscular dystrophy and comorbid attention-deficit hyperactivity disorder using propensity-score matching.

OBJECTIVE: This study aimed to assess and compare the health-related quality of life (HRQoL) in a group of paediatric patients with Duchenne muscular dystrophy (DMD) with and without comorbid attention-deficit hyperactivity disorder (ADHD) diagnosis using a propensity-scoring method (PSM). METHOD: Data used in this study obtained from a cross-sectional and web-based survey to investigate the HRQoL for paediatric DMD patients. Data about those who diagnosed with ADHD was elicited for analysis. PSM was used to ensure generation of 1:5 matched pairs with no differences in several background characteristics between DMD patients with and without ADHD. Wilcoxon rank sum test and Multiple logistic regression models were used to measure the differences in HRQoL between matched DMD patients with and without ADHD. RESULTS: After PSM, 630 DMD patients were assigned to the 'No ADHD' group, and successfully matched with another 126 DMD patients in the ADHD comparison group. Compared to DMD patients without ADHD, those with ADHD were more likely to report having symptoms and side-effects. Additionally, paediatric DMD patients with ADHD reported a significantly lower HRQoL on the subscales of emotional, social, and school functioning as compared to those without ADHD. CONCLUSION: This study demonstrated a higher burden of clinical symptoms, health service utilization, and psychosocial factors on HRQoL in DMD patients with ADHD compared to those without ADHD. Future studies using global data may provide meaningful comparisons with our results, and the efficacy of ADHD programs in DMD patients can be compared based on their HRQoL.

A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy.

PURPOSE: Some parents of children with DMD find their role challenging, affecting quality of life. To inform support methods, we aimed to understand the lived experiences of parents and how these interact with disease progression. MATERIALS AND METHODS: PRISMA informed protocol development. Qualitative and mixed methods studies were included. Four databases were searched and study quality was assessed using a standardised measure. Extracted data were analysed using thematic synthesis. RESULTS: 26 studies were included, comprising 362 parents. Seven descriptive themes were apparent: "Diagnostic Experiences", "Coping with the Caregiver Role", "Illness Trajectory and Associated Interventions", "Family Communication", "Network of Support", "Navigating Systems" and "Transition Experiences". Four analytical themes were then derived: "The Cyclical Nature of Grief", "Lifelong Expert in the Needs and Experiences of an Individual with DMD", "Navigating Deviation from Typical Life Course" and "Uncertainty as Ever Present". CONCLUSION: The extant evidence suggests that the experience of parenting a child with DMD is often characterised by: a cycle of grief that begins at diagnosis, which runs parallel to the development of expertise in caregiving; within this parents notice deviations from their child's and their own expected life course and adjust to the emotions and uncertainty that this can bring.IMPLICATIONS FOR REHABILITATIONProfessionals should be cognisant to the complex grief process associated with DMD, which occurs from diagnosis onwards.There should be continued support for parents following bereavement.Peer support groups may also offer parents ways to maintain well-being.The necessity for parents to function effectively within an uncertain context that induces challenging emotions suggests a role for psychological therapies.

Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.

BACKGROUND: Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. OBJECTIVE: The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder with the dystrophin/DMD genotype in population with dystrophinopathies. METHODS: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to September 2022. We included observational studies in the population with Becker or Duchenne muscular dystrophies (BMD, DMD) that estimated the prevalence of these disorders according to Dp140 and/or Dp71 genotype. Meta-analysis of the prevalence ratio (PR) of genotype comparisons was conducted for each disorder. RESULTS: Ten studies were included in the systematic review. In BMD, Dp140+ vs. Dp140- and Dp71+ vs. Dp71- were associated with developmental disorders with a PR of 0.11 (0.04, 0.34) and 0.22 (0.07, 0.67), respectively. In DMD, Dp140+/Dp71+ vs. Dp140- /Dp71- had a PR of 0.40 (0.28, 0.57), and Dp71+ vs. Dp71- had a PR of 0.47 (0.36, 0.63) for ADHD. However, there was no association of genotype with ASD, only a trend was observed for Dp71+ vs. Dp71-, with a PR of 0.61 (0.35, 1.06). Moreover, the data showed no association of these isoforms with emotional-related disorders. CONCLUSIONS: In BMD, Dp140 and Dp71 could be associated with developmental disorders, while ADHD might be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD.

'Our time is precious': An exploration of parental feeding behaviours for boys with Duchenne muscular dystrophy.

INTRODUCTION: Due to the increased risk of obesity for boys with Duchenne muscular dystrophy (DMD), recent guidelines recommend that dietary intake is carefully managed. Parents play an important role in the development of their child's eating behaviours and patterns. However, despite what is known about the increased risk of obesity for children with DMD, little is known about parental feeding behaviours in this population. The objective of this study was to qualitatively explore the experiences of parents of children with DMD around their child's weight management and understand what influences their feeding behaviours. METHODS: This paper reports a secondary data analysis. Semi-structured, individual interviews were conducted and analysed using qualitative description. RESULTS: Thirteen parents were interviewed for the study. Three themes were developed: (1) parent responses to healthcare provider interactions, (2) mixed emotions contributing to feeding approach and (3) variable parenting feeding styles. Within the third theme, two subthemes arose including (1) control and preoccupation and (2) striking a balance. CONCLUSION: Given the potential impact of higher weights on the progression of DMD, it is important that healthcare providers explore feeding behaviours with families. However, it is essential that healthcare providers consider the impact of these conversations on parents, as well as the broader issues that may place additional pressure on the lives of families.

Chronic pain, psychological distress, and quality of life in males with Duchenne muscular dystrophy.

AIM: To describe chronic pain in Duchenne muscular dystrophy (DMD) from children's/adolescents' perspectives, explore patient variables associated with self-reported pain, and examine the relationship between chronic pain, psychological functioning, and health-related quality of life (HRQoL). METHOD: This observational study included a paediatric cohort (aged 8-18 years; median age 9 years 4 months) with DMD under multidisciplinary care (n = 45). Clinical data of the latest visit were extracted from the electronic health record and assessment of pain, psychological distress, and HRQoL were performed during the same visit. RESULTS: Thirty-two patients reported pain during the previous 4 weeks, and 18 reported persistent or recurrent chronic pain. Average pain intensity of chronic pain was mild, with regions of the legs (n = 12), lower back (n = 6), hips (n = 6), and shoulder (n = 6) most frequently affected. Older age, higher body mass index, being non-ambulatory, wheelchair dependency, and spinal deformities were contextual variables related to the presence of chronic pain. Furthermore, chronic pain was significantly associated with psychological distress and reduced HRQoL in paediatric patients with DMD. INTERPRETATION: Chronic pain in paediatric DMD is frequent and widespread, highlighting the need for pain to be addressed in the routine care of affected young people. Chronic pain may make a significant contribution to psychological distress and impaired HRQoL in paediatric patients with DMD. WHAT THIS PAPER ADDS: Chronic pain differs in aetiology, scope, and nature compared with acute pain in paediatric Duchenne muscular dystrophy (DMD). Older age, higher body mass index, being non-ambulatory, wheelchair dependency, and spinal deformities are important patient variables. Chronic pain is significantly associated with psychological distress and reduced health-related quality of life in paediatric DMD.

A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy.

PURPOSE: Duchenne muscular dystrophy (DMD) is a rare x-linked neuromuscular condition predominantly affecting boys and men. There is a paucity of research qualitatively detailing the lived experience of health-related quality of life (HRQoL) for people with DMD. The aim of this study was to identify a comprehensive framework for better understanding HRQoL in DMD. METHODS: Eighteen boys and men (aged 7 to ≥ 40 years) with DMD were recruited from charity Duchenne UK, a DMD support group, and 5 UK National Health Service Trusts. Semi-structured interviews were conducted using a topic guide informed by a review into HRQoL in DMD. Generic, preference-based, patient-reported outcome measures (PROs) were used as prompts. Interviews were audio recorded, transcribed verbatim and analysed using framework analysis. RESULTS: Thirty-seven themes were coded, within seven categories. Six categories were conceptualised as components of HRQoL (autonomy, daily activities, feelings and emotions, identity, physical aspects, social relationships) and one considered an input (healthcare, support, and environment). Three additional themes were used to code feedback on the generic PROs (CHU-9D, EQ-5D, HUI). Social relationships received most coverage in the data and was noted as an omission from the PROs. CONCLUSION: A 30-item framework for HRQoL in DMD has been developed, which was used as input into a new condition-specific HRQoL PRO and preference-based measure: the DMD-QoL. The data has value in its own right in highlighting the lived experience of HRQoL for people with DMD and as a barometer for assessing the content of HRQoL PROs for use in DMD.

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. A single case non-concurrent multiple baseline across patients design evaluated the target behaviour i.e. parental reports of WM problems of four DMD participants with LDs. Additionally, participants completed cognitive tests of verbal and visual WM, academics, attention, processing speed and fluid reasoning. Parents and teachers completed behavioural questionnaires. Testing and questionnaires were administered at baseline, post-intervention (T2), 3 (T3) and 8 (T4) months follow-up. Positive effects on target behaviour were found for three of four participants, but parental bias cannot be ruled out. Short and long-term, near-and far transfer effects were found for verbal and visual WM (T2:n = 2, T3&T4:n = 1), reading (T2:n = 4,T3:n = 3,T4:n = 2), arithmetic (all T:n = 1), processing speed (all T:n = 4) and fluid reasoning (T2:n = 1,T3&T4:n = 2). Behavioural questionnaires displayed minimal changes (T2:n = 1,T3&T4:n = 2). Promising WM training results are shown in DMD that merit further research.

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). This study aims to assess disorder specific differences in cognition and behavior between DMD and NF1. Retrospective data of 38 male patients with DMD were aged-matched with data of 38 male patients with NF1. Patients of both groups underwent neurocognitive assessment for regular clinical care. Intellectual abilities, sequential and simultaneous processing, verbal memory and sustained attention were evaluated. In addition, parents and teachers completed behavioral questionnaires. Males with DMD exhibited low intellectual abilities and sequential processing problems, but these outcomes not significantly differed from males with NF1. Simultaneous processing, verbal memory and sustained attention outcomes were equal for both groups. Outcomes of questionnaires displayed higher rates of aggressive behavior (13.2%) in DMD, whereas in NF1 higher rates of problems with thinking (15.8%), withdrawn (10.5%) and social behavior (10.5%) were noticed. In the neurogenetic disorders DMD and NF1, on average overlapping cognitive and behavioral problems are noticed, suggesting that these are not only caused by gene mutations resulting in a lack of one specific protein.

Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients.

Cognitive and executive function impairment as well as the association between executive functions and dystrophin gene mutation position have been widely investigated in individuals with Duchenne muscular dystrophy, whereas few studies explored these functions in Becker muscular dystrophy patients. The aim of this study is to investigate the neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy patients and whether there is any correlation with site of dystrophin gene mutation. This is a single-center, observational, cross-sectional study in which a full neuropsychological assessment, including intellectual functioning, executive functions, and language abilities, was performed in children and adolescents without cognitive impairment. A comparison between groups based on site of mutation or Intelligence Quotient level was attempted. 22 patients were enrolled. Overall, the patients in our cohort did not perform well in tests investigating the executive functions. No statistically significant difference was found in groups stratified by site of mutation or cognitive level. This study confirms that these patients have a risk of impairment of the executive functions, despite having a normal Intelligence Quotient in most cases (mean 94). This is a very important aspect, as it puts them at risk of developing learning disabilities.

Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families' views on the received health care during the pandemic.

This study explored views of users with muscular dystrophies and their caregivers on staff-user relationships and the treatments provided by a Rehabilitation Centre during the pandemic. Patients and relatives were asked to anonymously complete an open-ended questionnaire exploring their views on these aspects. Fifty-four patients and 40 caregivers gave their informed consent and participated in the survey. Fifty-three patients were adults, 28% suffering from Duchenne/Becker muscular dystrophy. Patients reported 269 comments on health care services provided during the pandemic, 132 (49%) concerning positive aspects and 137 (51%) negative aspects. The prompt restart of the rehabilitation therapies and the staff closeness over the pandemic were the practical aspects most frequently appreciated (46.9%), while closer family contacts and the perception of being able to rely on the Centre's constant support were the most cited psychological aspects (53.1%). Architectural barriers, difficulties in accessing public health services, economic difficulties, and lack of support from welfare and other agencies were the practical critical points most frequently reported (89%). In addition, social isolation, and loneliness due to fear of contagion were the most negative psychological aspects (10.1%). As regard the caregivers' views, participants reported 151 comments. Of these, 86 (56.9%) were positive and 65 (43.1%) were negative. Among the positive aspects, the psychological ones - such as closer family contacts, not feeling abandoned and counting on the constant Centre's professional support prevailed (53.5%). As for the negative aspects, most caregivers (92.6%) believe that the pandemic exacerbated their financial and bureaucratic difficulties, particularly in poorer families.