Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study.

PURPOSE: The Facioscapulohumeral Muscular Dystrophy Health Index (FSHD-HI) is a patient-reported outcome measure developed for patients with FSHD. This study aimed to translate the FSHD-HI into Japanese (FSHD-HI-J), evaluate cultural adaptation, and examine its psychometric properties. MATERIALS AND METHODS: We created two forward translations, integrated them into a single Japanese version, and evaluated the back-translated version of the FSHD-HI. After finalizing the translation and cultural adaptation, we conducted a survey of 66 patients with FSHD to examine the reliability and validity of the FSHD-HI-J. For psychometric evaluations, we used Cronbach's alpha to assess internal consistency, the intraclass correlation coefficient (ICC) for test-retest reliability, and assessed validity based on the associations between FSHD-HI-J, clinical variables, and quality of life measures. RESULTS: The FSHD-HI-J was found to be clinically relevant, indicating high internal consistency and test-retest reliability (ICC = 0.92 [95% confidence interval: 0.86-0.95] for the total score), as well as significant associations with clinical variables (D4Z4 repeats and functional impairment) and other quality of life measures (|rho| = 0.25-0.73). CONCLUSIONS: The FSHD-HI-J is a valid and reliable patient-reported outcome measure for Japanese patients with FSHD. This validated, disease-specific patient-reported outcome is essential for future clinical practice and clinical trials.

Facioscapulohumeral muscular dystrophy (FSHD) affects not only a patient's physical abilities but also their social activities, participation, and overall quality of life.The FSHD-Health Index (FSHD-HI) is an instrument developed as a disease-specific patient-reported outcome measure to evaluate the burden experienced by patients.The Japanese version of the FSHD-HI has been established as a reliable and validated measure for Japanese-speaking patients with FSHD.The Japanese version of the FSHD-HI can serve as a useful instrument for evaluating the effectiveness of interventions in future trials.

Dealing with food selectivity and mealtime behaviour in school-children with autism: a qualitative study of special education teachers in Japan.

Food selectivity in children with autism spectrum disorder (ASD) is a serious issue in special needs schools, and special education teachers face various difficulties in their management of the problem. The aim of this study is to investigate the difficulties that special education teachers face in managing food selectivity in children with ASD. Data were obtained from 12 special education teachers in 2018 via semi-structured in-depth interviews. Thematic analysis was used to identify key conceptions of the participants' experiences, while qualitative analysis of the interview data revealed three major themes. Their personal and professional thoughts and hopes regarding eating habits in children, feelings of uncertainty about their practice, and their interactions with the children and their parents were the key factors behind the difficulties they experience as special education teachers. The findings improve our understanding of the challenges experienced by teachers managing food selectivity in children with ASD. A different conceptualisation of the problem may lead to difficulties in collaboration among the people who are tasked with solving the problem.

Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy that causes various symptoms, including those of the central nervous system. Some studies have reported cognitive decline in patients with DM1, although the available evidence is limited. OBJECTIVE: This study aimed to describe longitudinal differences in neuropsychological function in patients with DM1. METHODS: A total of 66 Japanese adult patients with DM1 were investigated using a neuropsychological battery to assess several cognitive domains, including memory, processing speed, and executive function. The patients underwent neuropsychological evaluation approximately five years after baseline (Times 1 and 2). RESULTS: Thirty-eight patients underwent a second neuropsychological evaluation. The participants in the Time 2 evaluation were younger than those who did not participate in Time 2. Patients showed a decline in the Mini-Mental State Examination, Trail Making Test (TMT), Block Design, and Symbol Digit Modalities Test at Time 2 (P < 0.05). Age at Time 1 was associated with a decline in TMT-A and TMT-B scores (rho = 0.57 and 0.45, respectively). CONCLUSION: These results suggest a cognitive decline in patients with DM1 and warrant further investigation into the possible effects of age-related changes.

Evaluating the psychometric properties of the fatigue severity scale using item response theory.

BACKGROUND: Fatigue is a common daily experience and a symptom of various disorders. While scholars have discussed the use of the Fatigue Severity Scale (FSS) using item response theory (IRT), the characteristics of the Japanese version are not yet examined. This study evaluated the psychometric properties of the FSS using IRT and assessed its reliability and concurrent validity with a general sample in Japan. METHODS AND MEASURES: A total of 1,007 Japanese individuals participated in an online survey, with 692 of them providing valid data. Of these, 125 participants partook in a re-test after approximately 18 days and had their longitudinal data analyzed. In addition, the graded response model (GRM) was used to assess the FSS items' characteristics. RESULTS: The GRM's results recommended using seven items and a 6-point scale. The FSS's reliability was acceptable. Furthermore, the validity was adequate from the results of correlation and regression analyses. The synchronous effects models demonstrated that the Multidimensional Fatigue Inventory (MFI) enhanced depression, and depression enhanced FSS. CONCLUSION: This study suggested that the Japanese version of the FSS should be a 7-item scale with a 6-point response scale. Further investigations may reveal the different aspects of fatigue assessed by the analyzed fatigue measures.

Disinfection behavior for COVID-19 in individuals with Down syndrome and caregivers' distress in Japan: a cross-sectional retrospective study.

The COVID-19 outbreak affected the daily lives of individuals with Down syndrome, who were considered to have a higher risk of severe infection. While several studies have reported mental health issues in children and/or parents in the general population, no study has focused on people with Down syndrome and their caregivers. This study investigated the disinfection behaviors of individuals with Down syndrome and their caregivers' stress. A cross-sectional retrospective survey was conducted in October 2020. Caregivers of children and adults with Down syndrome were administered questionnaires including measures for practiced disinfection behavior in children, caregiver's child-related stress, and psychological distress. About half of the respondents' children practiced hand hygiene and mask-wearing behaviors, while physical distancing was performed less frequently. Habitual practices in physical distancing are affected by intellectual function. Logistic regression showed that caregivers' stress was associated with the irritability of individuals with the disorder (adjusted odds ratio [OR] = 8.44, 95% confidence interval [CI] 1.69-42.09) and the burden of infection-prevention behaviors for people with Down syndrome (adjusted OR = 4.26, 95% CI 1.88-9.65). This study showed the characteristics of disinfection behaviors in individuals with Down syndrome and associated factors for serious caregiver stress.

Interactions between special education teachers and children with chronic complex conditions: A qualitative study.

Background: The number of children with complex medical conditions has increased in recent decades. In this context, a complex chronic condition is characterized by multiple morbidities that require intensive or continuous health care according to the level of severity. Given their various health conditions, it is challenging to provide special education to these children, but there is still insufficient evidence regarding the practical experiences of educators. The aim of this study was to investigate special education teacher's perceptions, experiences, and challenges while developing interpersonal relationships and communicating with children who have complex chronic conditions. Methods: We recruited and interviewed 21 special education school teachers in Japan. The transcripts of the interviews were analyzed using thematic analysis. Results: Our analysis revealed four themes, including "searching for the meaning," "complex chronic conditions as a difficult reality," "widening experience for the future," and "priority for interacting with children." These themes reflect the perceptions, experiences, and challenges of the special education teachers. Conclusions: In cases where children have severe functional limitations, it is more challenging to understand child-teacher interactions. This highlights the importance of searching for meaning in educational practices used among children with complex chronic conditions. Our findings may provide helpful insight into the experiences and challenges faced by special educators who engage with these children.

Comparison of the effectiveness of cognitive behavioral therapy for insomnia, cognitive behavioral therapy for pain, and hybrid cognitive behavioral therapy for insomnia and pain in individuals with comorbid insomnia and chronic pain: A systematic review and network meta-analysis.

Considering that insomnia and chronic pain are often comorbid, we aimed to compare the effectiveness of cognitive behavioral therapy for insomnia (CBT-I), cognitive behavioral therapy for pain (CBT-P), and cognitive behavioral therapy for insomnia and pain (CBT-IP) in individuals with comorbid insomnia and chronic pain. We used PubMed, PsycINFO, CENTRAL, and Web of Science for our literature search. The outcomes included sleep, pain, disability, and depression at post-treatment and follow-up (3-12 months). Sixteen randomized controlled trials with 1094 participants were included. In the Bayesian network meta-analysis, CBT-I [standard mean difference (SMD) = -0.99, 95% credible interval (CrI) = -1.50 to -0.54] and CBT-IP (SMD = -0.70, 95% CrI = -1.60 to -0.08) were significantly more effective than the control for sleep at post-treatment. Additionally, CBT-I was significantly more effective than the control for pain, disability, and depression at post-treatment and sleep at follow-up. However, there were no significant differences in effectiveness between CBT-P and the control for any outcomes. Thus, CBT-I might be the most effective treatment option for individuals with comorbid insomnia and chronic pain. However, given the small sample sizes and high risk of bias of the included studies, these results must be interpreted with caution.

Relationship between children with neurodevelopmental disorders and their caregivers and friends during early phase of COVID-19 school closure in Japan: Association with difficulty in implementing infection prevention measures.

BACKGROUND: Due to the COVID-19 pandemic people had to implement various infection prevention measures. Researchers have reported the difficulties experienced by children with neurodevelopmental disorders in implementing these measures and their caregivers' resultant anxiety and stress. This study examined the relationship between these difficulties and the deterioration of the children's relationships with their caregivers and friends during school closure and after school reopened. METHODS: A total of 150 caregivers of children with neurodevelopmental disorders answered a questionnaire asking about parent‒child relationships, their child's friendships, and the presence or absence of difficulty in implementing infection prevention measures at three time points: before the pandemic, while schools were closed, and after school reopened. The frequency and percentages of the child's behavioral problems, deterioration in their relationships, and difficulty implementing infection control measures were calculated. Using the relationship deterioration scores, independent and multiple regression analyses were performed for the presence or absence of difficulty implementing infection control measures, presence or absence of caregivers' mental health concerns, and the presence or absence of deterioration of one or more problematic behaviors. RESULTS: Overall, 84.1% of the children displayed difficulties implementing infection prevention measures. No relationship was observed between difficulty with infection prevention measures and deterioration in their relationships with parents and friends when schools were closed. After school reopened, however, deterioration in parent‒child relationships correlated positively with difficulty in hand-washing, and deterioration of friendships correlated positively with the maintenance of social distancing and difficulty in hand-washing. Deterioration of friendships correlated negatively with difficulty in voluntarily complying with stay-at-home requests. CONCLUSION: Difficulty in implementing infection prevention measures was related to deterioration in social relationships with parents and friends of children with neurodevelopmental disorders during the school reopening period, following COVID-19 school closure in Japan. Under a condition requiring heightened infection control, close monitoring may be necessary for the social relationships in children with neurodevelopmental disorders.

Transdiagnostic comparisons of intellectual abilities and work outcome in patients with mental disorders: multicentre study.

BACKGROUND: Cognitive impairment is common in people with mental disorders, leading to transdiagnostic classification based on cognitive characteristics. However, few studies have used this approach for intellectual abilities and functional outcomes. AIMS: The present study aimed to classify people with mental disorders based on intellectual abilities and functional outcomes in a data-driven manner. METHOD: Seven hundred and forty-nine patients diagnosed with schizophrenia, bipolar disorder, major depression disorder or autism spectrum disorder and 1030 healthy control subjects were recruited from facilities in various regions of Japan. Two independent k-means cluster analyses were performed. First, intelligence variables (current estimated IQ, premorbid IQ, and IQ discrepancy) were included. Second, number of work hours per week was included instead of premorbid IQ. RESULTS: Four clusters were identified in the two analyses. These clusters were specifically characterised in terms of IQ discrepancy in the first cluster analysis, whereas the work variable was the most salient feature in the second cluster analysis. Distributions of clinical diagnoses in the two cluster analyses showed that all diagnoses were unevenly represented across the clusters. CONCLUSIONS: Intellectual abilities and work outcomes are effective classifiers in transdiagnostic approaches. The results of our study also suggest the importance of diagnosis-specific strategies to support functional recovery in people with mental disorders.

Dohsa-hou for unexplained regression in Down syndrome in a 19-year-old man: A case report.

Unexplained regression in Down syndrome (URDS) has become a significant issue in clinical practice and research. This report illustrates the case of a patient with URDS treated with psychological treatment using Dohsa-hou, in addition to medication. Although psychological treatment may be helpful, monitoring potential risks of acute aggression is necessary.

Effectiveness of a Parent Training Programme for Parents of Adolescents with Autism Spectrum Disorders: Aiming to Improve Daily Living Skills.

Parent training (PT) has been well established in younger children with autism spectrum disorder (ASD) but is less well studied in adolescents. This study examined the effects of attempting PT to enhance the daily living skills (DLSs) of adolescents with ASD. Twenty-five parents of adolescents with ASD participated in either the immediate- or delayed-treatment control condition. Children's DLSs were evaluated using the DLS domain of the Vineland Adaptive Behaviour Scales-II, and the achievement of the DLSs practised by the children at home was the subject of the evaluation. The DLS domain score showed no improvement in the treatment group compared to the control group. However, some parents in the treatment group reported that their children acquired the target DLSs and more sophisticated communication behaviours. In addition, one measure suggested that parents increased their praising behaviours. These changes may have been driven by the completion of the parent training. We discuss several aspects of developing parent-mediated interventions based on the current intervention situation and observed changes.

Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.

BACKGROUND: Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients' subjective evaluation of their symptoms may also affect their QoL. The aim of this study was to investigate the association between subjective symptom impact and the QoL of patients with myotonic dystrophy, after controlling for functional impairment. METHODS: Eligible patients with myotonic dystrophy type 1 (DM1) were recruited from four hospitals in Japan. The subjective symptom impact of four symptoms (muscle weakness, fatigue, pain, and myotonia) and overall QoL were evaluated using the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Functional impairment was assessed using the modified Rankin Scale. RESULTS: Seventy-seven patients with DM1 were included in this study. Overall QoL was significantly associated with subjective symptom impact of muscular weakness, fatigue, pain, myotonia, swallowing difficulty, and droopy eyelids. In the regression models, disease duration (beta = 0.11) and moderate to severe functional impairment (beta = 0.33) explained a significant part of the overall QoL. Furthermore, muscular weakness, fatigue, and myotonia significantly explained additional variance of the overall QoL (beta = 0.17-0.43). CONCLUSIONS: Subjective symptom impact and functional impairment are independent features influencing the QoL of Japanese patients with DM1.

Associations between anger and chronic primary pain: a systematic review and meta-analysis.

OBJECTIVES: Anger is a negative emotion characterized by antagonism toward someone or something, is rooted in an appraisal or attribution of wrongdoing, and is accompanied by an action tendency to undo the wrongdoing. Anger is prevalent in individuals with chronic pain, especially those with chronic primary pain. The associations between anger and pain-related outcomes (e.g., pain intensity, disability) have been examined in previous studies. However, to our knowledge, no systematic review or meta-analysis has summarized the findings of anger-pain associations through a focus on chronic primary pain. Hence, we sought to summarize the findings on the associations of anger-related variables with pain and disability in individuals with chronic primary pain. METHODS: All studies reporting at least one association between anger-related variables and the two pain-related outcomes in individuals with chronic primary pain were eligible. We searched electronic databases using keywords relevant to anger and chronic primary pain. Multiple reviewers independently screened for study eligibility, data extraction, and methodological quality assessment. RESULTS: Thirty-eight studies were included in this systematic review, of which 20 provided data for meta-analyses (2,682 participants with chronic primary pain). Of the included studies, 68.4% had a medium methodological quality. Evidence showed mixed results in the qualitative synthesis. Most anger-related variables had significant positive pooled correlations with small to moderate effect sizes for pain and disability. CONCLUSIONS: Through a comprehensive search, we identified several key anger-related variables associated with pain-related outcomes. In particular, associations with perceived injustice were substantial.

Dohsa-hou intervention for reciprocal interpersonal interaction for a girl with Kabuki syndrome and autism spectrum disorder.

Although available evidence for psychosocial treatment for patients with Kabuki syndrome is limited, Dohsa-hou, a psychomotor therapy, could be a treatment option for autism spectrum disorder associated with the disorder.

Psychological Case Conference Following the Death of a Patient With Neuromuscular Disease: A Source of Emotional Support for Participating Medical Staff.

Healthcare professionals involved in the treatment and care of patients with intractable diseases, such as muscular dystrophy, increasingly encounter situations that can elicit emotional distress for them as well as the patients. Therefore, medical professionals also need support. This article describes a psychological case conference of multidisciplinary professionals involved in the treatment of a deceased patient with Duchenne muscular dystrophy. The conference aimed to support medical professionals in reflecting on and sharing their thoughts, feelings, and conflicts. Such a practice could support medical professionals in reflecting patients' thoughts and sharing their personal experiences with other staff members, which may alleviate emotional and personal conflicts. Reflecting on their interactions and dealings with patients serves this supportive function. Psychological case conferences for medical staff may serve as an opportunity for participants to feel emotionally supported and may perhaps help prevent burnout.

Enhanced learning to improve letter knowledge in children with Down syndrome and severe intellectual disability: A case report.

Children with Down syndrome and severe intellectual disability have difficulties in learning a language. Enhanced learning procedure, including mora segmentation is beneficial to understand letter-sound correspondence in such children.

Mutation spectrum and health status in skeletal muscle channelopathies in Japan.

Skeletal muscle channelopathies, including non-dystrophic myotonia and periodic paralysis, are rare hereditary disorders caused by mutations of various ion channel genes. To define the frequency of associated mutations of skeletal muscle channelopathies in Japan, clinical and genetic data of two academic institutions, which provides genetic analysis service, were reviewed. Of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [CLCN1 (n = 30) and SCN4A (n = 36)], 11 were hyperkalemic periodic paralysis (SCN4A), and 28 were hypokalemic periodic paralysis [CACNA1S (n = 16) and SCN4A (n = 12)]. Of the 30 families with myotonia congenita, dominant form (Thomsen type) consisted 67%, and unique mutations, A298T, P480T, T539A, and M560T, not found in Western countries, were commonly identified in CLCN1. Hypokalemic periodic paralysis caused by SCN4A mutations consisted 43% in Japan, which was much higher than previous reports. Furthermore, the quality of life of the patients was assessed using the patient-reported outcome measures, SF-36 and INQoL, for 41 patients. This study indicated that the etiology of skeletal muscle channelopathies in Japan was not identical to previous reports from Western countries, and provided crucial information for genetics as well as future therapeutic interventions.

A 1.5-Year Longitudinal Study of Social Activity in Patients With Schizophrenia.

Patients with schizophrenia exhibit impairments in their social activity, intelligence quotient (IQ), daily living skills, and social function. Social activity is a high-order outcome measure of their lives. Here we attempted to longitudinally evaluate the effects of IQ, daily living skills, social function, psychiatric symptoms, and medications on social activity in patients with schizophrenia. The purpose of the current study is to identify the specific factor that affects longitudinal changes in social activity. Sixty-five patients with schizophrenia were assessed at two time points [time 2 (T2, follow-up) - time 1 (T1, baseline) = 1.71 ± 0.79 years]. Social activity, IQ, daily living skills, and social function were assessed using the Social Activity Assessment (SAA; h/week), short form of the Wechsler Adult Intelligence Scale (WAIS)-III (WAIS-SF), University of California San Diego (UCSD) Performance-Based Skills Assessment (UPSA), and Social Functioning Scale (SFS), respectively. IQ, daily living skills, social function, and social activity were significantly improved between T1 and T2 (t = 2.0-4.4, p = 0.048-3.60 × 10-5). IQ, daily living skills, and social function positively correlated with social activity (lowest p = 1.27 × 10-5), and psychiatric symptoms negatively correlated with social activity over time (lowest p = 3.26 × 10-9). The longitudinal change in social activity was independently and positively correlated with a change in social function (beta = 0.35, p = 4.63 × 10-3), particularly interpersonal communication (beta = 0.35, p = 4.32 × 10-3). The longitudinal changes in other factors did not directly affect the change in social activity (p > 0.05). Based on these findings, social activity is more affected by social function than by other factors.

Further validation of the Japanese version of the Multidimensional Assessment of Interoceptive Awareness.

OBJECTIVE: The Multidimensional Assessment of Interoceptive Awareness (MAIA) is a validated measure to assess interoceptive awareness. Although an earlier study evaluated the Japanese version of the MAIA, it did not examine the measure's test-retest reliability and the data fit of the factor structure. This study aims to further validate the Japanese version of the MAIA. RESULTS: In this cross-sectional study, 268 Japanese individuals participated. They completed the Japanese version of the MAIA and concurrent validity measures. The test-retest reliability of the Japanese version's subscales ranged from adequate to high (intra-class coefficients = 0.76-0.85). Confirmatory factor analysis demonstrated that the Japanese six-factor structure had a good fit in Japanese. The MAIA subscales were moderately associated with scores on the Body Awareness Scale (rho = 0.25-0.49). The results indicated high test-retest reliability and further confirmed the validity of the six-factor structure of the Japanese version of the MAIA. Hence, the Japanese version of the MAIA is a useful measure to assess interoceptive awareness in the Japanese population.

The myotonic dystrophy health index: Japanese adaption and validity testing.

INTRODUCTION: The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, patient-reported outcome measure. The objective of this study was to translate, evaluate, and validate a Japanese version of the MDHI (MDHI-J). METHODS: We utilized forward and backward translations and qualitative interviews with 11 myotonic dystrophy type 1 (DM1) participants. We subsequently tested the internal consistency, test-retest reliability, concurrent validity against muscle strength, and 3 quality-of-life measures, and the known-groups validity of the MDHI-J with 60 adult patients. RESULTS: The MDHI-J was found to be culturally appropriate, comprehensive, and clinically relevant. The MDHI-J and its subscales had high internal consistency (mean Cronbach's α = 0.91), test-retest reliability (intraclass coefficient 0.678-0.915), and concurrent validity (Spearman's ρ - 0.869 to 0.904). MDHI-J scores were strongly associated with employment, duration of symptoms, and modified Rankin Scale. DISCUSSION: The MDHI-J is suitable and valid to measure patient-reported disease burden in adult Japanese patients with DM1. Muscle Nerve 59:577-577, 2019.