Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Un análisis integrado entre la calidad de vida y las necesidades de apoyo de personas adultas con discapacidad intelectual en Chile / An integrated analysis between the quality of life and the support needs of adults with intellectual disabilities in Chile

El paradigma de apoyos y el de calidad de vida se han transformado en guías fundamentales para los avances en el ámbito de la discapacidad intelectual (DI). Con base en una muestra de 93 personas adultas con DI, se analiza, desde un enfoque cuantitativo no experimental, la relación entre la calidad de vida y las necesidades de apoyo, aplicando la escala INICO-FEAPS y la escala de Intensidad de Apoyos (SIS) para cada constructo. Los principales resultados evidencian que existe una relación fuerte e indirecta entre calidad de vida y necesidades de apoyos, y también la relevancia de analizar dichos resultados desde variables como grado de discapacidad, sexo o nivel socioeconómico. La discusión permite inferir la necesidad de discutir nuevas estrategias en torno a categorías como el grado de discapacidad, la autodeterminación e inclusión social, como elementos facilitadores de la calidad de vida y apoyos desde un enfoque integral que contribuya al desarrollo de estrategias de programas sociales para la población con DI. (AU)

The support paradigm and the quality of life paradigm have become fundamental guides for progress in the field of Intellectual Disability (ID). Based on a sample of 93 adults with ID, the relationship between Quality of Life and Support Needs is analyzed from a non-experimental quantitative approach, applying the INICO-FEAPS scale and the SIS Support Intensity scale for each construct. The main results show that there is a strong and indirect relationship between quality of life and support needs, and the relevance of analyzing these results from variables such as the degree of disability, sex or socioeconomic level. The discussion allows us to infer the need to discuss new strategies around categories such as the degree of disability, self-determination and social inclusion, as facilitating elements of quality of life and supporting a comprehensive approach that contributes to the development of social program strategies for the population with ID. (AU)

Beneficios y limitaciones de la planificación centrada en la persona en el campo de la discapacidad intelectual y del desarrollo: una revisión sistemática según las directrices de PRISMA / Benefits and limitations of person-centered planning in the field of intellectual and developmental disabilities: a systematic review according to PRISMA guidelines

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)

The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)

Visual function correlates of self-reported vision-related nighttime driving difficulties / La función visual se correlaciona con las dificultades de conducción nocturna relacionadas con la visión autoinformadas

Purpose: To investigate the visual function correlates of self-reported vision-related night driving difficulties among drivers. Methods: One hundred and seven drivers (age: 46.06 ± 8.24, visual acuity [VA] of 0.2logMAR or better) were included in the study. A standard vision and night driving questionnaire (VND-Q) was administered. VA and contrast sensitivity were measured under photopic and mesopic conditions. Mesopic VA was remeasured after introducing a peripheral glare source into the participants' field of view to enable computation of disability glare index. Regression analyses were used to assess the associations between VND-Q scores, and visual function measures. Results: The mean VND-Q score was -3.96±1.95 logit (interval scale score: 2.46±1.28). Simple linear regression models for photopic contrast sensitivity, mesopic VA, mesopic contrast sensitivity, and disability index significantly predicted VND-Q score (P<0.05), with mesopic VA and disability glare index accounting for the greatest variation (21 %) in VND-Q scores followed by photopic contrast sensitivity (19 %), and mesopic contrast sensitivity (15 %). A multiple regression model to determine the association between the predictors (photopic contrast sensitivity, mesopic VA, mesopic contrast sensitivity, and disability index) and VND-Q score yielded significant results, F (4, 102) = 8.58, P < 0.001, adj. R2 = 0.2224. Seeing dark-colored cars was the most challenging vision task. Conclusion: Changes in mesopic visual acuity, photopic and mesopic contrast sensitivity, as well as disability glare index are associated with and explain night driving-related visual difficulties. It is recommended to incorporate measurement of these visual functions into assessments related to driving performance.(AU)

Effects of Virtual Reality Therapy Combined With Conventional Rehabilitation on Pain, Kinematic Function, and Disability in Patients With Chronic Neck Pain: Randomized Controlled Trial.

BACKGROUND: Neck pain is a common condition that leads to neck motor dysfunction and subsequent disability, with a significant global health care burden. As a newly emerging tool, virtual reality (VR) technology has been employed to address pain and reduce disability among patients with neck pain. However, there is still a lack of high-quality studies evaluating the efficacy of VR therapy combined with conventional rehabilitation for patients with chronic neck pain, particularly in terms of kinematic function. OBJECTIVE: This study aims to investigate the effect of VR therapy combined with conventional rehabilitation on pain, kinematic function, and disability in patients with chronic neck pain. METHODS: We conducted an assessor-blinded, allocation-concealed randomized controlled trial. Sixty-four participants experiencing chronic neck pain were randomly allocated into the experimental group that underwent VR rehabilitation plus conventional rehabilitation or the control group receiving the same amount of conventional rehabilitation alone for 10 sessions over 4 weeks. Pain intensity, disability, kinematic function (cervical range of motion, proprioception, and mean and peak velocity), degree of satisfaction, and relief of symptoms were evaluated at 3 timepoints (baseline, postintervention, and at 3 months follow-up). A 2*3 mixed repeated measures analysis of variance was utilized for analyzing the difference across indicators, with a significant difference level of .05. RESULTS: Both groups demonstrated significant improvements in pain, disability, and kinematic functions (P<.05) at postintervention and at 3-month follow-up. The experimental group showed superior therapeutic outcomes compared to the control group in pain reduction (mean difference from the baseline: 5.50 vs 1.81 at posttreatment; 5.21 vs 1.91 at the 3-month follow-up, respectively; P<.001), disability improvement (mean difference from baseline: 3.04 vs 0.50 at posttreatment; 3.20 vs 0.85 at the 3-month follow-up, respectively; P<.001), and enhanced kinematic functions (P<.05). Moreover, participants in the experimental group reported better satisfaction and relief of symptoms than the control group (P<.05), with better initiative for exercising during the follow-up period. However, there was no between-group difference of improvement in proprioception. No adverse events were reported or observed in our research. CONCLUSIONS: The findings of our study support the efficacy of combining VR therapy with conventional rehabilitation in alleviating pain, enhancing kinematic function, and reducing disability of patients with chronic neck pain. Future research should focus on refining the therapeutic protocols and dosages for VR therapy as well as on optimizing its application in clinical settings for improved convenience and effectiveness. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR2000040132; http://www.chictr.org.cn/showproj.aspx?proj=64346.

Profiles of functioning of a group of children with cerebral palsy in Argentina: Preliminary data from the first national study. / Perfiles de funcionamiento en un grupo de niños con parálisis cerebral en Argentina: datos preliminares del primer estudio nacional.

Cerebral palsy (CP) affects body posture and movement coordination and is the most common cause of severe disability in the pediatric population. The diagnosis of CP is not a description of a person's functioning or interaction with their environment. Therefore, the diagnosis should be complemented with a description of functioning, using tools based on the biopsychosocial model proposed by the World Health Organization's International Classification of Functioning, Disability and Health (ICF). This report describes the preliminary data from a multicenter study conducted in Argentina with the aim of standardizing the description of the profiles of functioning of children and adolescents with CP. These data showed that the participants had some skills in sleep functions, mental functions of language, seeing functions, and in some environmental factors. They showed significant difficulties in categories such as maintaining body position, walking, and toileting.

La parálisis cerebral (PC) afecta la postura y la coordinación del movimiento, y es la causa más común de discapacidad grave en la población pediátrica. El diagnóstico de PC no describe el funcionamiento ni la interacción de la persona con el contexto en el cual se desarrolla. Por lo tanto, el diagnóstico se debe complementar con una descripción del funcionamiento, utilizando herramientas basadas en el modelo biopsicosocial de la Clasificación del Funcionamiento (CIF) de la Organización Mundial de la Salud (OMS). En esta comunicación, describimos los datos preliminares de un estudio multicéntrico en Argentina destinado a estandarizar la descripción del perfil de funcionamiento en niños y adolescentes con PC. Estos datos mostraron que los participantes tienen algunas habilidades en las funciones del sueño, las funciones mentales del lenguaje y las visuales, así como en algunas relacionadas con el contexto. Presentan dificultades importantes en categorías tales como mantener la posición del cuerpo, el andar y la higiene.

The feasibility of an adapted virtual mindfulness intervention for Special Olympics athletes and their caregivers.

BACKGROUND: Virtual mindfulness may be helpful for individuals with intellectual disabilities in the context of COVID-related disruptions of in-person programming, such as Special Olympics (SO). This study examined the feasibility of a virtual mindfulness intervention for SO athletes and their caregivers. METHOD: SO athletes (n = 44) and their caregivers (n = 29) participated in a 6-week adapted virtual mindfulness intervention. Athletes completed mindfulness and well-being questionnaires prior to, immediately following, and 3-months post-intervention. Caregivers completed questionnaires assessing their own stress, mindfulness, and well-being, as well as athlete mental health. Exit interviews were conducted immediately following the intervention. RESULTS: The intervention was feasible in terms of demand, implementation, acceptability, and limited testing efficacy. There were significant improvements in athlete well-being and mental health, and caregiver stress and mindfulness post-intervention. CONCLUSIONS: Adapted virtual mindfulness groups may be an effective intervention in improving the well-being of adults with intellectual disabilities and their caregivers.

Family concerns and relationship problems in anxious pregnant women and their associations with postnatal functional disability in Pakistan.

OBJECTIVE: Expanding on existing research suggesting that strategies to reduce prenatal anxiety can decrease functional disability (e.g., difficulties in performing everyday activities and social participation), we examined if this effect varied by type of anxiety-producing problem (i.e., having family concerns and relationship problems versus other problems) reported during pregnancy. Further, we explored if perceived social support mediated this relationship. METHODS: We used longitudinal data on 310 anxious Pakistani women who received any psychosocial intervention sessions as part of a program that was based on Cognitive Behavioral Therapy. The Psychological Outcome Profiles (PSYCHLOPS) was used to assess whether women had 'family concerns and relationship problems' or 'other problems.' The WHO Disability Assessment Schedule 2.0 assessed functional disability at six-weeks after delivery. Lack of support was measured using a 12-item Multi-dimensional Scale of Perceived Social Support. We employed linear regression to examine associations between types of problems reported during pregnancy and postnatal functional disability. Causal mediation analysis was used to assess whether postnatal social support mediated this relationship. RESULTS: Of anxious pregnant women, 34% reported family concerns or relationship problems as primary problems in pregnancy. They were more likely to report higher functional disability at six-weeks after delivery than women who reported other problems (adjusted B = 2.40, 95% CI: 0.83-3.97). Lack of overall social support (Estimateindirect = 0.69, 95% CI: 0.04-1.38) and lack of support from friends (Estimateindirect = 0.62, 95% CI: 0.01-1.29) significantly mediated the relationship. CONCLUSIONS: Findings suggest that complementing pre- and post-natal care with support programs and services that address family concerns and relationship problems, as well as enhancing social support is important to functional disability.

Modelling for disability: How does artificial intelligence affect unemployment among people with disability? An empirical analysis of linear and nonlinear effects.

There is a growing debate among scholars regarding the impact of artificial intelligence (AI) on the employment opportunities and professional development of people with disability. Although there has been an increasing body of empirical research on the topic, it has generally yielded conflicting findings. This study contributes to the ongoing debate by examining the linear and nonlinear effects of AI on the unemployment of people with disability in 40 countries between 2007 and 2021. Using the system Generalized Methods of Moments and panel smooth transition regression, the main conclusions are as follows. First, AI reduces the unemployment of people with disability in the full sample. Second, upon disaggregating the sample based on income level (high income/non-high income) and gender (men/women), the linear model only detects an inverse correlation between AI and unemployment among people with disability in high-income countries and among men, whereas it does not influence unemployment in non-high-income countries and women. Third, the panel smooth transition regression model suggests that the effects of AI on the unemployment of people with disability and among women are only observed once artificial intelligence interest search exceeds a specific threshold level. The effects of AI in non-high-income economies and among women are not significant in the lower regime, which confirms the nonlinear association between AI and the unemployment rate of people with disability. These findings have important policy implications for facilitating the integration of people with disability into the labor market.

Physical impairment during and between migraine attacks: A daily diary study of patients with chronic migraine.

OBJECTIVE: While a substantial body of research describes the disabling impacts of migraine attacks, less research has described the impacts of migraine on physical functioning between migraine attacks. The objective of this study is to describe physical impairment during and between migraine attacks as a dimension of burden experienced by people living with chronic migraine. METHODS: The physical impairment domain of the Migraine Physical Function Impact Diary was recorded in headache diaries from the Medication Overuse Treatment Strategy trial. Days with moderate to severe headache were used to approximate migraine attacks. Factor analysis and regression analysis were used to describe associations between migraine and physical impairment. RESULTS: 77,662 headache diary entries from 720 participants were analyzed, including 25,414 days with moderate to severe headache, 19,149 days with mild headache, and 33,099 days with no headache. Mean physical impairment score was 41.5 (SD = 26.1) on days with moderate to severe headache, 12.8 (SD = 15.0) on days with mild headache, and 5.2 (SD = 13.1) on days with no headache. Physical impairment on days with mild headache and days with no headache was significantly associated with days since last moderate to severe headache, physical impairment with last moderate to severe headache, mild headache (compared to no headache), depression, hypersensitivities and cranial autonomic symptoms. CONCLUSIONS: Physical impairment occurs on migraine and non-migraine days. Study participants with frequent headaches, symptoms of depression, hypersensitivities and cranial autonomic symptoms experience physical impairment at a higher rate on days with no headache and days with mild headache.Clinical Trial Registration: ClinicalTrials.gov (NCT02764320).

Experiences of Mothers With Physical Disabilities in the Care of Their Children and Their Expectations From Nurses.

Background and Purpose: The study aims to determine the experiences of Turkish mothers with physical disabilities in the care of their children and their expectations from nurses in this process and ensure the establishment of strategic recommendations for nurses in line with these expectations. Methods: This qualitative descriptive study included 21 mothers with physical disabilities of nondisabled children aged 0-18 years. Data analysis was conducted using the traditional content analysis method in the Max Qualitative Data Analysis Analytics Pro 2020 program. Results: Six themes were obtained from the analysis. Of the six themes determined, the themes "Prenatal Emotions and the Need for Support," "Postpartum Emotions and Childcare," "Strategies Facilitating the Care Process," "Child's Safety," "Advantages and Disadvantages," and "Expectations and Recommendations" are related to childcare, while the theme "Expectations and Recommendations" is related to expectations from nurses and other healthcare professionals and recommendations to mothers with physical disabilities. Implications for Practice: The participants stated that nurses' training and attempts to provide information related to their needs resulting from physical disabilities were limited.

Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/intellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.

BACKGROUND: Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients. METHODS AND RESULTS: A Chromosomal microarray analysis was was conducted on a total of 1227 patients and phenotype-associated etiological diagnosis was established in 135 patients. Phenotype-associated copy number variants were detected in 11% of patients. Among these, 77 patients 77 (57%, 77/135) were diagnosed with well-recognized genetic syndromes and phenotype-associated copy number variants were found in 58 patients (42.9%, 58/135). The study was designed to collect data of patients in Kocaeli Derince Training and Research Hospital retrospectively. In our study, we examined 135 cases with clinically significant copy number variability among all patients. CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.

Epidemiological variations and trends in glaucoma burden in the Belt and Road countries.

BACKGROUND: Analyzing the glaucoma burden in "Belt and Road" (B&R) countries based on age, gender, and risk factors from 1990 to 2019 in order to provide evidence for future prevention strategies. METHODS: We applied global burden of disease(GBD) 2019 to compare glaucoma prevalence and Years lived with disabilities (YLDs) from 1990 to 2019 in the B&R countries. Trends of disease burden between 1990 and 2019 were evaluated using the average annual percent change and the 95% uncertainty interval (UI) were reported. RESULTS: From 1990 to 2019, most B&R countries showed a downward trend in age-standardized prevalence and YLDs (all P < 0.05). Additionally, only the age-standardized YLDs in males of Pakistan has a 0.35% increase (95%CI:0.19,0.50,P < 0.001), and most B&R countries has a decline(all P < 0.05) in age-standardized YLDs in every 5 years age group after 45 years old except for Pakistan(45-79 years and > 85 years), Malaysia(75-84 years), Brunei Darussalam(45-49 years), Afghanistan(70-79 years). Finally, in all Central Asian countries, the age-standardized YLDs due to glaucoma caused by fasting hyperglycemia demonstrated have an increase between 1990 and 2019 (all P < 0.05), but Armenia and Mongolia have a decrease between 2010 and 2019 (all P < 0.05). CONCLUSION: The prevalence of glaucoma continues to pose a significant burden across regions, ages, and genders in countries along the "B&R". It is imperative for the "B&R" nations to enhance health cooperation in order to collaboratively tackle the challenges associated with glaucoma.

Clinical variables influencing the perception of fatigue in people with multiple sclerosis: a cross-sectional study using FSIQ-RMS.

BACKGROUND: Physical fatigue is one of the most disabling symptoms in people with Multiple Sclerosis (PwMS). Several factors might influence the development of fatigue, such as gender, education, body mass index (BMI), Expanded Disability Status Scale (EDSS), disease duration, working status (Ws), physiotherapy (Ph), and disease-modifying therapies (DMTs). Fatigue Symptoms and Impacts Questionnaire-Relapsing Multiple Sclerosis (FSIQ-RMS) is a patient-reported outcome (PRO) that allows one to define the impact of fatigue in PwMS clearly. This study aimed to assess fatigue impact on PwMS by using FSIQ-RMS. METHODS: The participants were enrolled from May to July 2021 in MS Centers of Sant'Andrea Hospital and Policlinico Umberto I Hospital in Rome. Fatigue was evaluated using the FSIQ-RMS, validated, and culturally adapted in Italian. Clinical and demographic data were collected at the same time. RESULTS: We enrolled 178 PwMS [Female 74.16%; RMS 82.58%, SPMS 17.52%]. FSIQ-RMS scores were significantly correlated with EDSS (p-value < 0.01). Analysis of variance between means showed a statistically significant difference between the BMI groups at the 24hours_FSIQ-RMS score and the 7days_FSIQ-RMS score (p < 0.01), with the lower BMI group having the highest scores. Furthermore, perceived fatigue significantly improved both in subjects performing Ph (p < 0.05) and in those who actively work (p < 0.01). CONCLUSIONS: The use of FSIQ-RMS in a real-world setting confirmed that underweight and high levels of disability are closely related to fatigue. In addition, Ph and active Ws are strongly correlated with fatigue in PwMS.

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

Usmani-Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in AP1G1 (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, muscular tone disorders, seizures, limb defects, and unspecified facial gestalt. In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was supported by DeepGestalt analysis (www.face2gene.com). The system identified 6 chromatin disorders out of 30 possible diagnoses. The remaining 24 included 9 miscellaneous cryptic chromosomal abnormalities (excluded due to normal microarray study). To the best of our knowledge, this is the first description of likely distinctive facial features in a patient with Usmani-Riazuddin syndrome. Further multicentric analyses are needed for a better definition of this aspect.

Effect of Yoga of Adaptive Yogasana Practice on the Flexibility and Psychomotor Variables in Intellectually Disabled Subjects.

Intellectual disability (ID) is a public health challenge affecting communities worldwide. ID is characterized by impaired physical and cognitive functioning and less engaged in physical activities. The objective of this study was to assess the impact of adaptive yoga practices on cognitive and motor abilities in the subjects with ID. Sixty-six subjects with mild and moderate IDs were purposively selected and randomly divided into experimental and control groups, with 33 subjects in each group. One month of adaptive yoga module was provided to the experimental group. To assess the impact of the yoga intervention, Functional Reach Test (FRT), Wall Toss Test (WTT), Finger Tapping Test (FTT), Sit-Reach Test (SRT), and Six Letter Cancellation Test (SLCT) were administered. The experimental group showed a statistically significant improvement with P < 0.05 across all the parameters, whereas the control group could not observe a significant improvement. Based on the results, this study concludes that "one month of adaptive yoga module" delivered impact and helped to improve the dynamic balance, eye-hand coordination, neuro-motor function, spinal flexibility, and selective attention in ID-afflicted subjects.

Parental physical activity support for parents of children with disabilities in Saudi Arabia.

Physical activity (PA) is crucial for promoting physical, cognitive, and psychosocial health. Unfortunately, children with disabilities spend less time engaging in PA compared to their typically developing peers. Parents play a crucial role in supporting children with disabilities to increase their level of PA. However, there is scant research on the factors linked to parental support for PA among non-Western parents of children with disabilities, particularly in the context of Saudi Arabia. Therefore, to address this gap in the literature, the current study aimed to (i) measure parental support for encouraging PA in children with disabilities in Saudi Arabia, and (ii) examine the demographic factors associated with such support (e.g., family income, age of the child, type of disability, and parents' educational background). The sample included Saudi Arabian parents of children with disabilities (N = 239; fathers: n = 123; mothers: n = 116) who completed the Arabic version of the Parental Physical Activity Support Questionnaire for Parents of Children with Disabilities (PPSQ for PCD). The findings revealed that parental support for children with disabilities to engage in PA typically occurs less than once a week, indicating an inadequate level of support. A generalized linear model analysis demonstrated that several independent demographic variables are associated with overall parental support for PA among children with disabilities: participant age, educational background, parental engagement in PA, age of the child with a disability, disability status, club participation, knowledge of legislation or policies related to the rights of children with disabilities, and number of children in the family. The findings emphasize the significance of raising awareness among parents of children with disabilities to support their children in participating in PA, as well as addressing the barriers that hinder such support.

Backward logistic regression analysis of the determinants of the hand function among patients with leprosy: A cross-sectional study.

Introduction: The hands are the most common site of disability in leprosy. Hand dysfunction could result in difficulty performing activities of daily living. Therefore, hand function should be regularly assessed to ensure that any decrease in hand function could be diagnosed earlier. Methods: This study included 110 patients with leprosy from Likupang and Lembata, Indonesia. Hand function was assessed using the modified Jebsen test to measure hand function respective of the dominance. The grip and pinch strength were used as objective measures of clinical arm function. The World Health Organization (WHO) hand disability grade were used to determine the degree of impairment. Other factors such as age, sex and the type of leprosy were also considered. All factors were analysed using backward logistic regression. Results: Among the 110 participants, a decrease in the dominant (48.2%) and non-dominant (50.9%) hand functions were found. Pinch strength (OR: 3.39; 95% CI: 1.13-10.19) and age (OR: 4.91; 95% CI: 1.72-14.03) were significantly associated with hand function irrespective of the dominance. Conversely, the WHO hand disability grade (OR: 2.97; 95% CI: 1.10-8.04) and type of leprosy (OR: 0.34; 95% CI: 0.12-0.97) were significantly associated with only function of the dominant hand. Conclusion: There is a significant association of age and pinch strength with hand function regardless of the hand dominance. In contrast, the WHO hand disability grade and type of leprosy are significantly associated with the function of the dominant hand only.