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)

The International Classification of Functioning Disability and Health Framework (ICF): a new approach to enhance sport and physical activity participation among people with disabilities in Scotland.

This research provides a pilot study of the International Classification of Functioning Disability and Health Framework (ICF) involving persons with disabilities (PWD) with and without lived experience of sport participation in Scotland. National surveys in Scotland provide limited information on the nature of individual disability restricting the understanding of the relationship between disability and sport and physical activity participation. The ICF is a framework that aims to describe and classify functioning and thus can be used as a tool to provide a more detailed description of impairment for PWDs beyond their clinical condition. This knowledge has the potential to enhance the development of policies to increase the participation levels in this group. The ICF has also been used to inform the current IPC classification system at a competitive and elite level. As part of a larger study, 450 participants aged between 12 and 70 years completed an online questionnaire examining attitudes to, and participation in, sport and physical activity as well as completing the structural and functional components of the ICF. Subsequently, 18 people participated in focus groups aged between 13 and 61 years. The focus groups examined four meta-theme areas: physical, social, psychological, and sport-specific factors. The results confirm that the ICF provided a more detailed indicator of the key impairments that could have an impact on sport and physical activity participation. There was a clear lack of awareness of the links between the ICF and the classification system for competitive parasport. We concluded that a modified ICF-based assessment tool, incorporating social and environmental factors, has the potential to predict the likelihood of participation and offers a more comprehensive picture of both individual and national disability characteristics. This allows for the development of targeted policies and strategies to assist those with a disability to participate in sport. The overall framework presents a shift in thinking, in policy terms, for those in public health and in sport governance and delivery. The significance of this work is especially concerned with public health and wellbeing and sport development policy as pathways from recreational sport user to elite athlete parasport classification and performance.

The Effectiveness and Optimal Dose of Resistance Training in Patients With Subacute and Persistent Low Back-Related Leg Pain: A Systematic Review.

A subgroup of patients with low back pain (LBP) suffers from low back-related leg pain (LBLP), which can be classified as radicular pain, or somatic referred pain without nerve root involvement. LBLP is considered an obstacle to recovery and a strong negative prognostic factor for medium- and long-term disability. In this review, we aimed to investigate the effectiveness and optimal dose of resistance training (RT) in patients with subacute or persistent LBLP to provide clinical recommendations for practice. This systematic review was conducted by adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and the recommendations of the Cochrane Collaboration. We conducted a literature search on PubMed, PEDro, Cochrane Library, Scopus, and Web of Science databases. Only randomized controlled trials (RCTs) involving patients ≥18 years of age were included. The risk of bias in the included studies was assessed using "the Cochrane Collaboration's tool for assessing risk of bias" (RoB) and the inter-rater agreement for full-text selection was evaluated using Cohen's Kappa (K). The search elicited a total of 4.537 records, and two RCTs involving a total of 196 participants were identified through a selection process based on title, abstract, and full-text assessment. Both studies had a low to moderate risk of bias. The inter-examiner concordance index for the selection of full text was excellent (K=1). RT seems to be an effective and safe intervention for patients with LBLP, but its long-term effectiveness, superiority over other types of exercise-based therapies, and optimal dosage still constitute a gray area in the literature.

Impact of family-centered care in families with children with intellectual disability: A systematic review.

Background: Family-Centered Care (FCC) is an approach to healthcare planning, delivery and evaluation, based on beneficial partnerships between health professionals, patients and families. FCC may be particularly relevant for families with children with intellectual disability (ID), given their needs of continuum care. Objective: To identify which components of the FCC are practiced and which health outcomes are considered effective in families with children with ID. Method: A systematic review guided by the PRISMA STATEMENT 2020 approach and the STROBE reporting guidelines was performed on specific databases through the EBSCOhost Web platform: MEDLINE with Full Text, CINAHL PLUS with Full Text, Academic Search Complete and Psychology and Behavioral Sciences Collection. Peer-reviewed articles published in English or Portuguese languages from 2018 to September 2023 were retrieved. Methodological quality was established using the Quality Assessment Tool for Observational, Cohort and Cross-Sectional Studies - NHLBI, NIH. Results: Ten studies met the eligibility criteria and were synthetized. The results revealed nine components, reflecting the way FCC was developed: shared decision-making; family education; respect for culture; family engagement; recognition of the family's needs, characteristics and interests; specialized care support; social and emotional support; family functionality; and family seen as a unit. The health outcomes demonstrate effective gains in improving children's health through family satisfaction with health services. Also achieved psychological and social benefits, with improved family well-being and quality of life, favoring family empowerment. Conclusions: The evidence suggests that FCC components involves an effective partnership between the family and health professionals as the main key in developing care plans, as well as the experience that the family unit brings to the delivery of care. FCC approach include all family members as decision-makers, providing emotional, physical and instrumental levels of support. Health outcomes emerged in three strands; for children with ID, families and health services.

Acceptance of Students with Physical Disabilities in Medical Schools in Saudi Arabia: Perception, Experience, and Recommendation.

Introduction: Physical disability is seen as a burden in many countries, and it has been a challenge to create a healthy environment and a fair living experience for all people with physical disability. For a long time, the number of students accepted to medical school has been limited, and the number of successful experiences for doctors with disabilities is inadequate worldwide. This study aims to investigate the perception of the public, medical educators, and medical students about the acceptance of students with physical disabilities in medical schools in Saudi Arabia. Methods: The study uses two methodological strategies: a quantitative cross-sectional survey and a qualitative interview with a young female doctor with a physical disability to discuss her educational experience and work journey in Saudi Arabia and abroad. The study was conducted at the College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Results: The perception survey results showed a broad acceptance of the public, medical educators, and medical students regarding the enrollment of students with physical disabilities in medical schools and regarding being treated by doctors with physical disabilities. The participants also believed that students with physical disabilities are compatible with most doctors' jobs. Conclusion: Students with physical disabilities should be able to study and practice medicine. Educational and health institutions should apply more effort and commitment to provide the necessary accommodations to accept students and doctors with physical disabilities based on their cognitive ability but not their physical disability.

'They don't think I can do it': Experiences of self-advocates, employment specialists, and employers on employment of adults with intellectual disability.

BACKGROUND: A multi-phase Canadian study was conducted as part of a large-scale community and academic research partnership focused on understanding and improving the employment experiences of people with intellectual disabilities. METHOD: This multi-method study utilized a sequential approach, using findings from qualitative interviews (n = 28) to inform an online survey (n = 149). Participants were invited to share their experiences with paid employment or with persons with intellectual disabilities. RESULTS: Thematic analysis of data across interview and survey findings resulted in six themes: (1) assumptions and attitudes, (2) knowledge and awareness, (3) accessibility of processes, (4) use of accommodations, (5) workplace relationships, and (6) supports and resources. CONCLUSIONS: A holistic and systemic approach has the potential to improve inclusive employment experiences of people with intellectual disabilities. Action is needed mainly at the policy and employer level to reduce barriers and improve on facilitating measures reinforced by the themes shared in this study.

Formal support and service needs of family caregivers of adults with intellectual and/or developmental disabilities in India.

BACKGROUND: Despite the enactment of disability laws/policies in India, research shows that caregivers of adults with intellectual and/or developmental disabilities experience inadequate formal supports/services due to dissemination barriers and lack of awareness about them. To address discrepancy between caregivers' support needs and the professionals' understanding of their needs, the study proposed to conduct a caregiver needs assessment so that culturally-tailored programs are developed. METHOD: A strengths-based mixed methods needs assessment was conducted with a convenience sample of 100 caregivers in Hyderabad, India. One hundred caregivers completed the survey and 15 caregivers participated in semi-structured interviews. RESULTS: Caregivers needed more and improved formal supports/services, particularly from the government. Caregivers faced systemic and attitudinal barriers, and personal impediments to accessing them. Needs differed by care recipients' intellectual disability level, gender, and intellectual disability related conditions. CONCLUSIONS: Researchers, service providers and policymakers need to adopt innovative strategies to improve formal supports/services access.

Comparing fine motor performance among young children with autism spectrum disorder, intellectual disability, attention-deficit/hyperactivity disorder, and specific developmental disorder of motor function.

Objective: The acquisition of fine motor skills is considered to be a crucial developmental milestone throughout early childhood. This study aimed to investigate the fine motor performance of young children with different disability diagnoses. Methods: We enrolled a sample of 1,897 young children under the age of 6 years who were at risk of developmental delays and were identified by a transdisciplinary team. A series of standardized developmental assessments included the Bayley Scales of Infant Development-Third Edition, Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition, Peabody Developmental Motor Scale-Second Edition, and Movement Assessment Battery for Children-Second Edition were used. Retrospective chart reviews were conducted on all children to identify specific developmental disorders. The number of autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), comorbidity, motor dysfunction, and unspecified developmental delays (DD) were 363 (19.1%), 223 (11.8%), 234 (12.3%), 285 (15.0%), 128 (6.7%), and 590 (31.1%), respectively. Results: Young children with ID, comorbidity, and motor dysfunction demonstrated significant difficulty in performing manual dexterity and visual motor integration tasks and scored significantly lower in these areas than children with ASD, ADHD, and unspecified DD. In addition, fine motor performance was associated with cognitive ability in children with different disability diagnoses, indicating that young children showed better fine motor performance when they demonstrated better cognitive ability. Conclusion: Our findings support that differences in fine motor performance differ by disability type. Close links between fine motor performance and cognitive ability in children under the age of 6 years were seen in all disability types.

Framework for an interprofessional experience addressing health and disability for health professional students.

BACKGROUND AND PURPOSE: A Health and Disabilities Interprofessional Education (IPE) course was implemented to join three healthcare disciplines together to collaboratively plan, implement, and reflect on professional roles and responsibilities. The goal and purpose of this course was to create an advancement of interprofessional education and practice within health science professions early in their students' programs utilizing innovative teaching methods working directly with individuals with disabilities. EDUCATIONAL ACTIVITY AND SETTING: 72 students were assigned to interprofessional teams of 10-11 people. Through asynchronous and synchronous learning activities, student teams worked together to plan and conduct community-based client interviews. FINDINGS: Quantitative and qualitative evaluation methods were used to explore the impact of interprofessional experiential learning experiences. Qualitative data showed a greater awareness and understanding of the different roles and responsibilities in interprofessional teams as well as a greater appreciation for the value of interacting with persons with disabilities (PWD) during their training. Quantitative data showed a significant change in students' understanding of their roles and responsibilities as a member of an interprofessional team, their confidence with working with PWD in a future healthcare capacity, as well as their understanding of how the social determinants of health may influence the healthcare experience of a PWD. SUMMARY: Interprofessional education and experiential learning opportunities are good ways to facilitate "real" patient care experiences and team roles and responsibilities. This enables healthcare students to practice communication, build relationships, and understand the lived experience of their patients.

Quantifying active travel among people with disabilities in the US.

BACKGROUND: People with disabilities have higher rates of physical inactivity than people without. Active travel (e.g., walking/wheeling to nearby destinations or transit) is a recommended approach to increasing total physical activity (PA) but limited research has examined active travel among people with disabilities. OBJECTIVE: To describe active travel among a nationally representative sample of people with disabilities, analyze variation between sub-groups, and examine factors associated with active travel. METHODS: Using the 2017 National Household Travel Survey, our cross-sectional analysis summarized counts and duration of walking/wheeling trips for people with four different types of disabilities. We examined which factors were associated with doing any active travel and the duration of active travel, using zero inflated negative binomial regression models. RESULTS: Our analysis identified that 14.55% of people with disabilities took a mean of 2.56 (95%CI = 2.42-2.69) walking/wheeling trips per day. Compared to non-active travelers, a higher proportion of active travelers were low-income, lived alone, had no-vehicle, and were Black or Hispanic. For active travelers, daily walking minutes, on average, were 46.41 (95%CI = 40.25-52.57) among people who used ambulatory devices, 41.55 (95%CI = 24.61-58.49) among people who were blind/low-vision, 39.93 (95%CI = 35.41-44.45) among people who used no device, and 29.58 (95%CI = 23.53-35.64) among people who used chair devices. Our analysis identified individual, household, and community factors associated with the likelihood and duration of walking/wheeling for travel and variation across disability types. CONCLUSIONS: Understanding the multiple identities of active travelers with disabilities can inform walking/wheeling intervention strategies. Infrastructure improvements that support less reliance on automobiles could increase active travel among people with disabilities.

A qualitative study of military service members undergoing medical separation.

OBJECTIVE: Little research explores military perspectives on medical disability-related transition. A qualitative study sought to understand transition experiences of United States military Service members found unfit for duty following medical and physical evaluation boards (MEBs and PEBs). METHODS: Confidential telephone interviews were conducted with 25 current and prior Service members. Participants were asked to share their experiences before, during, and after the MEB and PEB processes. Interview questions explored (1) health conditions that prompted the medical disability evaluation, (2) reactions to being recommended for separation, (3) transition-related stress and challenges, and (4) coping strategies. Salient themes were identified across chronological narratives. RESULTS: Participants expressed that debilitating physical (e.g., injury) and/or mental (e.g., post-traumatic stress disorder) illnesses prompted their medical evaluation. In response to the unfit for duty notice, some participants reported emotional distress (e.g., anxiety, anger) connected to uncertainty about the future. Other participants reported relief connected to a sense of progression toward their medical disability claim status. Transition stress included the length of the MEB/PEB process, impact of the COVID-19 pandemic on the process, financial stress, impact on family life, and compounded effect of these stressors on emotional distress, including depression and suicidal thoughts. Participants reported using adaptive (e.g., psychotherapy) and maladaptive (e.g., excessive drinking) strategies to cope with stress. CONCLUSION: Preliminary reports of emotional distress and transition stress following unfit for duty notices highlight the need for increased support and interventions to facilitate adaptive coping strategies during this vulnerable period.

Disability acceptance and depressive symptoms: the moderating role of social support.

Purpose: This study aims to estimate (a) the relationship between disability acceptance and depressive symptoms, and (b) how the quality and quantity of social support might moderate the link between disability acceptance and depressive symptoms.Materials and methods: The data for this study included information from 5165 individuals with disability who participated in 3 waves of the Disability and Life Dynamic Panel spanning years 2018 to 2020. This study employed fixed effects models to estimate the association between disability acceptance and depressive symptoms. Interaction models were used to assess the moderating effects of both the quantity and quality of social support.Results: A lower acceptance of disability was positively associated with depressive symptoms. Moreover, both the quantity and quality of social support were associated with a decrease in depressive symptoms. Only the quality of social support played a significant role in moderating the relationship between disability acceptance and depressive symptoms.Conclusion: A lower acceptance of disability increases depressive symptoms in individuals with disabilities. This study underscores the need for interventions to focus on enhancing the quality of social support to mitigate the link between disability acceptance and depressive symptoms.

A lower acceptance of disability is positively associated with depressive symptoms among persons with disability.The association between lower disability acceptance and depressive symptoms attenuates as emotional support from family and friends increases.The number of family and friends does not significantly change the relationship between lower disability acceptance and depressive symptoms.The findings highlight the importance of interventions enhancing quality of social support in order to mitigate the association between disability acceptance and psychological health.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h-1/int22h-2 duplication. Twenty-one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live-born males and 23% live-born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second-hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X-chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance.

SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole-exome sequencing. All patients exhibited global developmental delay from early infancy, with motor development eventually reaching independent ambulation by 3 years of age. Language developmental delay varied significantly from nonverbal to simple sentences, which plateaued in all patients. Patients with the best language outcomes typically managed 2-3-word sentences, corresponding to a developmental age of 2-3 years. Epilepsy developed in 77% of patients, with onset consistently following developmental delays at a median age of 31 months. Longitudinal EEG data revealed a shift from occipital to frontal epileptiform discharges with age, suggesting a correlation with synaptic maturation. These findings suggest that the critical developmental plateau occurs between the ages of 2 and 5 years and is potentially influenced by epilepsy. By analyzing longitudinal data, our study contributes to a deeper understanding of SYNGAP1-related DEE, provides potential EEG biomarkers, and underlines the importance of early diagnosis and intervention to address this complex disorder.

Children with disabilities lack access to nutrition, health and WASH services: A secondary data analysis.

Malnutrition and disability are major global public health problems. Poor diets, inadequate access to nutrition/health services (NaHS), and poor water, sanitation and hygiene (WASH) all increase the risk of malnutrition and infection. This leads to poor health outcomes, including disability. To better understand the relationship between these factors, we explored access to NaHS and household WASH and dietary adequacy among households with and without children with disabilities in Uganda. We used cross-sectional secondary data from 2021. Adjusted logistic regression was used to explore associations between disabilities, access to NaHS, WASH and dietary adequacy. Of the 6924 households, 4019 (57.9%) reported having access to necessary NaHS, with deworming and vaccination reported as both the most important and most difficult to access services. Access to services was lower for households with children with disabilities compared to those without, after adjusting for likely confounding factors (Odds ratio = 0.70; 95% CI 0.55-0.89, p = 0.003). There is evidence of an interaction between disability and WASH adequacy, with improved WASH adequacy associated with improved access to services, including for children with disabilities (interaction odds ratio = 1.12, 95% CI: 1.02-1.22, p = 0.012). The proportion of malnourished children was higher among households with children with disabilities than households without it (6.3% vs. 2.4% p < 0.001). There are concerning gaps in access to NaHS services in Uganda, with households with children with disabilities reporting worse access, particularly for those with low WASH adequacy. Improved and inclusive access to NaHS and WASH needs to be urgently prioritized, especially for children with disabilities.

Validation of the Arabic Version of Feeding Handicap Index for Children with Developmental Disabilities (A-FHI-C).

Children with developmental disabilities have different feeding and swallowing problems. The purposes of the present study were to develop an Arabic version of the FHI-C and to evaluate its validity, consistency, and reliability in Arabic children with developmental disabilities for assessing how feeding and swallowing problems impair the physical, functional, and emotional aspects of children's lives. A prospective study including 113 children [62 children with autism spectrum disorder (ASD), 24 with cerebral palsy (CP), 27 with intellectual disability (ID)], in the age range of 2 to 10 years, selected randomly from the swallowing clinic, phoniatrics unit, Otorhinolaryngology department, University hospital between September 2023 and December 2023 complaining of feeding and swallowing problems. Validity was established by comparing patients` scores to typically developed controls (31 children). For test-retest reliability, forty parents filled out the A-FHI-C again two weeks after their initial visit. Cronbach's alpha for A-FHI-C was 0.986, indicating good internal consistency. Intraclass correlation showed 0.850 with a 95% confidence interval from 0.779 to 0.898. All three clinical groups had significantly higher total FHI-C and FHI-C domain scores than the control group, indicating good validation. A-FHI-C was found to have significantly high test-retest reliability. The current study indicates that in children with ASD, CP, ID, feeding problems are more prevalent than children who are typically developed. The scores obtained can be used by phoniatricans to evaluate feeding problems and monitor the progress of the therapy plan in children with developmental disorders.