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Down syndrome is considered the most common genetic cause of intellectual disability. People with intellectual disabilities have deficits in intellectual functioning such as attention, reasoning and academic learning. According to the American Association on Intellectual and Developmental Disabilities and the Centers for Disease Control and Prevention, intellectual disability encompasses only a person's intellectual functioning; however, it can co-exist with other developmental disabilities, such as Down syndrome. People with Down syndrome may have intellectual disabilities in the mild to moderate range. Because of this, they exhibit some cognitive and emotional characteristics of intellectual disability. Among the emotional characteristics of these populations are difficulties in recognizing some emotions, which triggers anxiety and depression problems. The literature proposes using serious video games to support different skills of people with Down syndrome and intellectual disabilities. Some of these works have shown how these serious video games support the development of different skills of these populations. However, they have not been designed to support their emotional awareness. Likewise, technology is aimed at supporting emotion recognition and identification, but most of these have been aimed at other populations, such as people with autism. This paper presents the evaluation process of the design of Emotion4Down: a serious video game to support emotional awareness. We conducted this evaluation in three stages involving people with intellectual disabilities and Down syndrome. [ABSTRACT FROM AUTHOR]

Background A peer support intervention, called basic psychological support for people affected by neglected tropical diseases (BPS-N), was piloted in India to improve mental well-being and social participation and to reduce stigma among people with disabilities due to leprosy or lymphatic filariasis. Preintervention and postintervention assessments showed improvements in mental well-being and reductions in depression and stigma. This study aimed to further evaluate this intervention at approximately 2 mo after its completion. Methods Scales were administered to 62 clients to measure stigma, depression, mental well-being and participation levels. Interviews with 13 clients and six peer supporters were conducted. Results Stigma scores were significantly reduced at 2 mo postintervention compared with preintervention and postintervention. The improvement in mental well-being detected at immediate postintervention had not changed significantly 2 mo later. Depression levels were higher than at postintervention, but lower than at preintervention levels. No significant differences were found in median participation scores, but the number of clients with moderate and severe participation restrictions reduced significantly from postintervention to 2 mo follow-up. Qualitative results showed that clients received information about their condition and treatment, and that some experienced positive effects on their emotions and self-esteem. Conclusions This study provides additional evidence on the proof of concept of BPS-N. Contexte Une intervention de soutien par les pairs, appelée Soutien psychologique de base pour les personnes atteintes de maladies tropicales négligées (BPS-N), a été pilotée en Inde afin d'améliorer le bien-être mental et la participation sociale, et de réduire la stigmatisation, chez les personnes souffrant d'incapacités dues à la lèpre ou à la filariose lymphatique. Les évaluations avant et après l'intervention ont montré une amélioration du bien-être mental et une réduction de la dépression et de la stigmatisation chez ces personnes. Cette étude avait pour but d'évaluer cette intervention environ 2 mois après son achèvement. Méthodes Des échelles ont été administrées à 62 clients pour mesurer la stigmatisation, la dépression, le bien-être mental et les niveaux de participation. Des entretiens ont été menés avec 13 clients et 6 pairs aidants. Résultats Les scores de stigmatisation ont été significativement réduits deux mois après l'intervention par rapport à la situation avant et après l'intervention. L'amélioration du bien-être mental détectée immédiatement après l'intervention n'a pas changé de manière significative deux mois plus tard. Les niveaux de dépression étaient plus élevés qu'après l'intervention, mais plus bas qu'avant l'intervention. Aucune différence significative n'a été constatée dans les scores médians de participation, mais le nombre de clients ayant des restrictions de participation modérées et sévères a diminué de manière significative entre la période post-intervention et les deux mois de suivi. Les résultats qualitatifs ont montré que les clients ont reçu des informations sur leur état et leur traitement, et que certains ont ressenti des effets positifs sur leurs émotions et leur estime de soi. Conclusions Cette étude a fourni des preuves supplémentaires de l'efficacité de la BPS-N. Introducción Una intervención de apoyo entre iguales, denominada Apoyo Psicológico Básico para personas afectadas por enfermedades tropicales desatendidas (BPS-N), se puso a prueba en la India para mejorar el bienestar mental y la participación social y reducir el estigma entre las personas con discapacidades debidas a la lepra o la filariasis linfática. Las evaluaciones previas y posteriores a la intervención mostraron mejoras en el bienestar mental y reducciones en la depresión y el estigma. El objetivo de este estudio era seguir evaluando esta intervención ∼2 meses después de su finalización. Métodos Se administraron escalas a 62 clientes para medir el estigma, la depresión, el bienestar mental y los niveles de participación. Se realizaron entrevistas con 13 clientes y 6 compañeros de apoyo. Resultados Las puntuaciones de estigma se redujeron significativamente a los 2 meses de la intervención, en comparación con antes y después de la misma. La mejora del bienestar mental detectada inmediatamente después de la intervención no había cambiado significativamente 2 meses después. Los niveles de depresión eran más altos que en el postintervención, pero más bajos que en el preintervención. No se encontraron diferencias significativas en las puntuaciones medias de participación, pero el número de clientes con restricciones de participación moderadas y graves se redujo significativamente entre el periodo posterior a la intervención y los 2 meses de seguimiento. Los resultados cualitativos mostraron que los clientes recibieron información sobre su enfermedad y tratamiento, y que algunos experimentaron efectos positivos en sus emociones y autoestima. Conclusiones Este estudio aportó pruebas adicionales sobre la prueba de concepto de la BPS-N. [ABSTRACT FROM AUTHOR]

Background People with leprosy and lymphatic filariasis (LF)-related disabilities experience higher levels of poor mental well-being compared with the general community. Mental health services are often not available. This study was conducted to provide proof of concept that basic psychological support for people affected by neglected tropical diseases (BPS-N) can be given by peer supporters to reduce stigma, improve mental well-being and participation among clients. Methods The BPS-N approach was tested in a quasi-experimental design using mixed methods. To provide psychological support using the BPS-N, peer supporters were selected and trained. They supported people with leprosy- and LF-related disabilities. Preintervention and postintervention, stigma, mental well-being, depression and participation were measured through standard scales within 4 wk of the intervention; differences were tested using standard tests of significance. Results After 3 mo of intervention, the mean level of stigma had decreased (30.3 to 24, p<0.001); high mental well-being increased (0% to 13.3%, p<0.001); and moderate to severe depression decreased (88% to 47%, p<0.001). No significant change occurred in participation restrictions (87% to 92%, p=0.497). Conclusions Psychological peer support using the BPS-N guideline appears effective in reducing stigma and improving mental well-being and can be operationalised. However, this should be confirmed through a randomised controlled trial. Contexte Les personnes atteintes de lèpre et de handicaps liés à la filariose lymphatique (FL) souffrent davantage d'un manque de bien-être mental que le reste de la population. Les services de santé mentale ne sont souvent pas disponibles hors des zones urbaines. Cette étude a été menée pour démontrer que le soutien psychologique de base pour les personnes atteintes de MTN (BPS-N) peut être dispensé par des pairs (dans une logique de transfert de tâches) afin de réduire la stigmatisation et d'améliorer le bien-être mental et la participation des clients. Méthodes L'approche du BPS-N a été testée dans le cadre d'un modèle quasi-expérimental utilisant des méthodes mixtes. Pour fournir un soutien psychologique à l'aide du BPS-N, des pairs ont été sélectionnés et formés. Ils sont venus en aide aux personnes atteintes de lèpre et de déficiences liées à la FL. Avant et après l'intervention, les éléments suivants ont été mesurés à l'aide d'échelles standardisées: niveau de stigmatisation, bien-être mental, symptômes dépressifs, et enfin, la participation sociale. Les différences ont été testées à l'aide de tests de signification standardisés. Résultats Après 3 mois d'intervention, le niveau moyen de stigmatisation a diminué (30,3 à 24, p<0   001) ; le niveau de bien-être mental a augmenté (0% à 13,3%, p<0   001) et la dépression modérée à sévère a diminué (88% à 47%, p<0   001). Aucun changement significatif n'a été observé en ce qui concerne les restrictions de participation (87% contre 92%, p=0   497). Conclusions Le soutien psychologique par les pairs utilisant la ligne directrice BPS-N semble efficace pour réduire la stigmatisation et améliorer le bien-être mental. Toutefois, cette efficacité doit être confirmée par un essai contrôlé randomisé. Antecedentes Las personas con lepra y discapacidades relacionadas con la filariasis linfática (FL) sufren niveles más altos de malestar mental en comparación con la comunidad en general. Los servicios de salud mental no suelen estar disponibles a nivel periférico. Este estudio se llevó a cabo para proporcionar una prueba de concepto de que el Apoyo Psicológico Básico para personas afectadas por NTDs (BPS-N) puede ser dado por compañeros de apoyo (rotación de tareas) para reducir el estigma, mejorar el bienestar mental y la participación entre los clientes. Métodos El enfoque BPS-N se probó en un diseño cuasi-experimental utilizando métodos mixtos. Para proporcionar apoyo psicológico con el BPS-N, se seleccionaron y formaron compañeros de apoyo. Apoyaron a personas con lepra y discapacidades relacionadas con la FL. El estigma, el bienestar mental, la depresión y la participación se midieron antes y después de la intervención, mediante escalas estándar; las diferencias se comprobaron mediante pruebas estándar de significación. Resultados Después de 3 meses de intervención, el nivel medio de estigma disminuyó (30,3 a 24, p<0   001); el bienestar mental alto aumentó (0% a 13,3%, p<0   001) y la depresión moderada a grave disminuyó (88% a 47%, p<0   001). No se produjeron cambios significativos en las restricciones de participación (87% frente a 92%, p=0   497)). Conclusiones El apoyo psicológico entre iguales, utilizando la guía BPS-N, parece eficaz para reducir el estigma y mejorar el bienestar mental. Sin embargo, esto debe confirmarse mediante un ensayo controlado aleatorizado. [ABSTRACT FROM AUTHOR]

People with intellectual disabilities make up about 1% of the population of Europe. As trends toward community life advance, they have become more visible and more likely to access generic health systems. Yet evidence suggests that there are striking disparities between the health of this group and that of the general population. Increased longevity means that adults in this group expect to live longer lives and thus to encounter age-related risks for various health conditions. The ‘Pomona’ project, funded by the EU Health Monitoring Unit, aims to develop a set of health indicators for people with intellectual disabilities. It will build on the work accomplished by the team developing ECHI - European Community Health Indicators. This article outlines the rationale for the project, key elements in its implementation and expected outcomes. [ABSTRACT FROM AUTHOR]

Background: People with intellectual disabilities (IDs) experience health inequalities. Applying health assessments is one way of diminishing these inequalities. A health assessment instrument can support general practitioners (GPs) in providing better medical care to people with ID.Objectives: The aim of this study was to determine which items should be part of a health assessment instrument for people with ID to be used in primary care.Methods: This Delphi consensus study was conducted among 24 GP experts and 21 ID physicians. We performed three anonymous sequential online questionnaire rounds. We started with 82 'general' items and 14 items concerning physical and additional examinations derived from the international literature and a focus group study among Dutch GPs. We definitely included items if more than 75% of the GP experts agreed on their inclusion.Results: The participation rate in all rounds was above 88%. The expert groups proposed 10 new items. Consensus was reached on 64 'general' items related to highly prevalent diseases, public health and health promotion. Consensus was also reached on 18 physical and additional examination items.Conclusions: For the first time, experts in a Delphi study were able to arrive at a selection of items for a health assessment instrument for people with ID. The overall agreement among the GPs and ID physicians was good. Because the experts prefer that patients complete the health assessment questionnaire at home, questions that cover these items must be formulated clearly. [ABSTRACT FROM AUTHOR]

Background: Chronic disease and comorbidity patterns in people with intellectual disabilities (ID) are more complex than in the general population. However, incomplete understanding of these differences limits care providers in addressing them.Objective: To compare chronic disease and comorbidity patterns in chronically ill patients with and without ID in Dutch general practice.Methods: In this population-based study, a multi-regional primary care database of 2018 was combined with national population data to improve identification of adults with ID. Prevalence was calculated using Poisson regression to estimate prevalence ratios and 95% confidence intervals for the highest-impact chronic diseases (ischemic heart disease (IHD), cerebrovascular disease (CVD), diabetes mellitus (DM), and chronic obstructive pulmonary disease (COPD)) and comorbidities.Results: Information from 18,114 people with ID and 1,093,995 people without ID was available. When considering age and sex, CVD (PR = 1.1), DM (PR = 1.6), and COPD (PR = 1.5) times more prevalent in people with than without ID. At younger age, people with ID more often had a chronic disease and multiple comorbidities. Males with ID most often had a chronic disease and multiple comorbidities. Comorbidities of circulatory nature were most common.Conclusions: This study identified a younger onset of chronic illness and a higher prevalence of multiple comorbidities among people with ID in general practice than those without ID. This underlines the complexity of people with ID and chronic diseases in general practice. As this study confirmed the earlier onset of chronic diseases and comorbidities, it is recommended to acknowledge these age differences when following chronic disease guidelines. [ABSTRACT FROM AUTHOR]

Background: Out-of-hours primary care for people with intellectual disabilities (ID) involves different groups of health care professionals, who are often not familiar to one another nor to the specific health care needs of this vulnerable population. It is not known to what extend these specific health care needs or organizational factors influence the delivery of out-of-hours primary care for people with ID.Objective: The objective of this study is to explore the experiences of health care professionals regarding the medical content and the organizational context of out-of-hours primary care for people with ID.Methods: Semi-structured interviews were conducted with daily care professionals, triage nurses and general practitioners (GPs) involved in out-of-hours primary care for people with ID in the Netherlands. Interviews were thematically analysed for medical content and organizational context.Results: The analysis resulted in four interconnected themes: (i) uncertainties in the triage assessment of ID patients; (ii) confusion about inter-professional responsibilities; (iii) impact on routines and workflow concerning ID patients and (iv) constraints in the decision-making process. All issues raised were related to the organizational context.Conclusions: Health care professionals involved in out-of-hours primary care for people with ID indicate that the quality of this care is more influenced by the organizational context than by the medical content. We recommend out-of-hours GP services and care provider services for people with ID to set standards for roles and responsibilities in order to facilitate health care professionals in delivering accessible and high-quality care to this vulnerable population. [ABSTRACT FROM AUTHOR]

People with intellectual disabilities make up about 1% of the population of Europe. As trends toward community life advance, they have become more visible and more likely to access generic health systems. Yet evidence suggests that there are striking disparities between the health of this group and that of the general population. Increased longevity means that adults in this group expect to live longer lives and thus to encounter age-related risks for various health conditions. The 'Pomona' project, funded by the EU Health Monitoring Unit, aims to develop a set of health indicators for people with intellectual disabilities. It will build on the work accomplished by the team developing ECHI -- European Community Health Indicators. This article outlines the rationale for the project, key elements in its implementation and expected outcomes. [ABSTRACT FROM AUTHOR]

Introduction: People with intellectual disabilities (ID) are earlier frail than people in the general population. Although this may be explained by lifelong unfavourable social, psychological and clinical causes, underlying physiological pathways might be considered too. Biological measures can help identify pathophysiological pathways. Therefore, we examined the association between frailty and a range of serum markers on inflammation, anaemia, the metabolic system, micronutrients and renal functioning. Methods: Participants (n = 757) with borderline to severe ID (50+) were recruited from three Dutch ID care and support services. Results: Frailty was measured with a frailty index, a measure based on the accumulation of deficits. Linear regression analyses were performed to identify associations between frailty and biochemical measures independent of age, gender, level of ID and the presence of Down syndrome. Frailty appears associated with inflammation (IL-6 and CRP), anaemia, metabolic markers (glucose, cholesterol and albumin) and renal functioning (cystatin-C and creatinine). Discussion: These results are in line with results observed in the general population. Future research needs to investigate the causal relation between biochemical measures and frailty, with a special focus on inflammation and nutrition. Furthermore, the possibility to screen for frailty using biochemical measures needs to be used. [ABSTRACT FROM AUTHOR]

This study aims to examine chronic chronic disease prevalence in people with ID compared to those without ID in primary care settings and comorbidity patterns accompanying chronic diseases, by focusing on age and sex differences. With a focus on the four highest-impact chronic diseases worldwide and individually, ischemic heart disease, cerebrovascular disease, diabetes mellitus, and chronic obstructive pulmonary disease (COPD), it is assessed to what extent these diseases affect people with ID. Two databases are linked, that of Nivel Primary Care Database, a large representative sample of Dutch citizens registered in general practices, and non-public microdata from Statistics Netherlands, containing information on indication of long-term care or supportive services for people with ID. With prevalence rates and odds ratios chronic disease prevalence and comorbidity patterns were established by total groups of people with and without ID and by sex and age groups. Results displayed differences in chronic disease prevalence in people with and without ID: cardiovascular diseases were less prevalent, and diabetes mellitus more prevalent in people with ID. At relatively young age (<50 years), people with ID not only had more chronic diseases, but also more often had multiple comorbidities compared to those without ID. The most common comorbidity in all chronic diseases was hypertension, while diabetes mellitus as comorbidity also occurred often. This study is the first to present chronic disease prevalence and comorbidity patterns across the groups of people with and without ID and by sex and age groups. It can therefore be used as source of accurate information on the health prevalence and patterns of people with ID compared to the general populations, and provides a novel insight into differences in the group of people with ID. [ABSTRACT FROM AUTHOR]

People with intellectual disabilities who are deaf face obstacles participating in social environments that do not take into account their need for accessible visual communication. In the present case series, we describe the development of the adaptive skills profiles of eight participants in a fully inclusive therapeutic living community, designed specifically for people with developmental disabilities who are deaf and focused on supporting communication, social relationships, conflict resolution, and work satisfaction. Adaptive skills ratings collected at enrollment and twelve years later suggest increases in social awareness and community living, whereas personal care and homemaking showed relatively little change. [ABSTRACT FROM AUTHOR]

We investigated the relationships between syndromic manifestations of defective placentation and the incidence of intellectual disability (ID) in offspring by conducting a population-based cohort study of 1,581,200 nonmalformed, live singleton infants born in Sweden between 1998 and 2014. Exposures were: 1) placental abruption, 2) preterm preeclampsia (<34 weeks of gestation), 3) preeclampsia combined with infant being small for gestational age (SGA) at birth, and 4) spontaneous preterm birth. The outcome was an ID diagnosis after 3 years of age. We estimated hazard ratios (HRs) and 95% confidence intervals (CIs) for each syndrome using Cox regression and robust variances. There were 9,451 children with ID (5.5 per 10,000 child-years). ID incidence rates increased with placental abruption (HR = 2.8, 95% CI: 2.3, 3.5), preterm preeclampsia (HR = 3.7, 95% CI: 2.9, 4.7), preeclampsia combined with SGA (HR = 3.3, 95% CI: 2.6, 4.1), and spontaneous preterm birth (for 32–36 and 22–31 weeks, respectively, HR = 1.6 (95% CI: 1.4, 1.8) and 5.2 (95% CI: 4.3, 6.2)). The same pattern of results was evident in sibling-controlled analyses among 1,043,158 full siblings. The strength of associations increased with ID severity. Preterm birth only partly explained the associations of placental abruption, preeclampsia, or SGA with ID. We conclude that defective placentation is related to increased incidence of ID in the offspring. [ABSTRACT FROM AUTHOR]

Background The relationship between disability and food insecurity is under-researched. Risk of food insecurity may vary by type and number of disabilities. We examine the hypotheses that (i) a higher number of disabilities increases risk of food insecurity and (ii) associations of physical disabilities, mental/cognitive disabilities or a combination of both types with food insecurity may differ in strength. Methods Data came from the fifth wave of the UK's Food Standards Agency's Food and You survey (2018), which contains detailed information on disability and household food insecurity. We used logistic and multinomial logistic regression to model the number and type of disabilities as predictors for food insecurity outcomes, controlling for socio-demographic factors. Results Both type and number of disabilities predicted food insecurity. Every additional disability was associated with higher odds of food insecurity [odds ratio (OR): 1.60, 95% confidence interval (CI): 1.40–1.83]. Among people with a disability, every additional disability was associated with 19% higher odds of food insecurity (OR: 1.19, 95% CI: 1.05–1.34). People with both physical and mental/cognitive disabilities had increased odds of severe food insecurity (OR: 8.97, 95% CI: 3.54–22.7). Conclusion Number and type of disabilities are associated with higher risk of food insecurity. A combination of physical and mental/cognitive disabilities, as well as having multiple disabilities are each independently associated with higher risk of food insecurity. Policy-makers may thus consider using targeted and tailored policies to reduce barriers to social and financial inclusion of disabled people to reduce food insecurity. [ABSTRACT FROM AUTHOR]

This study aims to present a nationwide registration of COVID-19 in people with ID living in residential settings, in order to provide insight in COVID-19 epidemiology in this vulnerable group. In a health crisis as the current worldwide COVID-19 pandemic, it is crucial to gain knowledge about the new infectious disease and its effects on health. Identifying risk groups is important for adequate preventative measures and policy-making. People with ID generally have poorer health than others in the general population, with higher prevalence of co-morbidities, risk factors such as obesity, and higher excess mortality rates for infectious diseases. However, there is little reliable knowledge about specific risks and consequences of COVID-19 in the ID population as compared with the general population. To increase this knowledge a nationwide registration system for data on people with ID was set up in Dutch long term care facilities. The registration covered more than 6500 patients with (suspected) Covid-19 infection observed in 2020 and registration is still ongoing. Organizations registered data of their patients with either suspected or confirmed COVID-19 infection, regarding socio-demographics, medical history and COVID-19 infection characteristics. People with ID are vulnerable to COVID-19 at a younger age compared to people in the general population. Case fatality rate was 3-4 times higher among people with ID compared to the general population, and mortality was already higher in younger age groups (40 years and older). Their living circumstances matter: in group home living circumstances more infected people with ID were observed. The etiology of the ID, especially Down syndrome, is an unfavorable predictor. According to these findings, people with ID proved to be vulnerable for COVID-19. Policy makers and care providers should adequately account for this increased vulnerability of the ID population. [ABSTRACT FROM AUTHOR]

Background Care and support for people with intellectual and developmental disabilities (IDD) in natural community contexts are increasing. Many people with IDD use physical therapy services to support their community participation. Medicaid Home- and Community-Based Services (HCBS) 1915(c) waivers are the largest providers of long-term services and supports for people with IDD. However, little is known about physical therapy provision under this program. Objective The aim of this study was to compare the operational definitions of physical therapy service under the HCBS 1915(c) waiver system and to describe projected physical therapy service utilization, spending, and reimbursement for people with IDD across states. Design This was a cross-sectional, descriptive study. Methods This study analyzed fiscal year 2015 HCBS IDD waivers from across the nation (N = 111), focusing on physical therapy utilization (total projected spending, total participants, reimbursement rates, and average annual service provision per participant). Service definitions were also analyzed to determine trends across waivers. Results Fifty-one waivers (45.9%) provided 61 different types of physical therapy services in fiscal year 2015. States utilized waivers to provide long-term remedial care rather than the acute short-term physical therapy. HCBS waiver physical therapy services were often provided in participants' homes and communities to expand physical therapy access and secure the benefits of providing physical therapy services in natural environments. Although most states have adopted similar definitions of physical therapy service, procedures and services vary. Limitations Medicaid HCBS waivers are state projections made to the federal government rather than actual utilization data. Conclusions Physical therapy service definitions, projected service utilization, spending, and reimbursement for people with IDD who use Medicaid HCBS waivers vary greatly between states. Physical therapy may be utilized less than expected given the reported benefits for people with IDD. [ABSTRACT FROM AUTHOR]

Background Online resources and social media have become increasingly ubiquitous in medical education. Little is known about the need for educational resources aimed at infectious disease (ID) fellows. Methods We conducted an educational needs assessment through a survey that aimed to describe ID fellows' current use of online and social media tools, assess the value of online learning, and identify the educational content preferred by ID fellows. We subsequently convened focus groups with ID fellows to explore how digital tools contribute to fellow learning. Results A total of 110 ID fellows responded to the survey. Over half were second-year fellows (61, 55%). Although many respondents were satisfied with the educational resources provided by their fellowship program (70, 64%), the majority were interested in an online collaborative educational resource (97, 88%). Twitter was the most popular social media platform for education and the most valued online resource for learning. Focus groups identified several themes regarding social medial learning: broadened community, low barrier to learning, technology-enhanced learning, and limitations of current tools. Overall, the focus groups suggest that fellows value social media and online learning. Conclusions ID fellows are currently using online and social media resources, which they view as valuable educational tools. Fellowship programs should consider these resources as complementary to traditional teaching and as a means to augment ID fellow education. [ABSTRACT FROM AUTHOR]

Two indicators for stress (mood and aggressive behavior) were evaluated in order to investigate the effect of the restrictions taken against the spread of the coronavirus on people who are deaf and hard of hearing (DHH) and have intellectual disabilities (ID). In three therapeutic living communities, specifically designed for the visual communication needs of people who are DHH and have ID, the mood of the residents is routinely assessed by staff members and every aggressive incident is recorded with the Staff Observation of Aggressions Scale-Revised (SOAS-R). For the 38 residents who were present 8 weeks before the first lockdown (t1) and the following 8 weeks (t2), mood ratings and ratings of aggressive behavior were compared between the two time periods. In contrast to our hypothesis the mood ratings of the residents had a slight significant improvement, whereas the incidents and severity of aggressive behavior did not change significantly. These results suggest that with proper communicative support, individuals who are DHH and have ID can cope effectively with significant restrictions imposed by a pandemic-caused lockdown. [ABSTRACT FROM AUTHOR]

In 2014, the European undergraduate curriculum in Geriatric Medicine was published to cover the minimum requirements that a medical student should achieve by the end of medical school. In 2019, the European postgraduate curriculum in Geriatric Medicine outlined the minimum recommended training requirements to become a geriatrician at specialist level in the EU. The postgraduate dimension of Geriatric Medicine education is a highly relevant topic for all, since most physicians—independently of their specialty—are inevitably involved in the care of older patients, but for most physicians, geriatrics is not part of their postgraduate generalist or specialty training. A key area for postgraduate education remains the provision of Geriatric Medicine competencies to all specialties outside geriatrics. There is also need for wider educational initiatives to improve the gerontological education of patients and the public. Bernard Isaacs famously coined the expression 'geriatric giants' or the four clinical I's: Intellectual impairment, Incontinence, Immobility, and Instability. However, non-clinical giants exist. In education, we face challenges of Investment, Inspiration, Integration, and Interprofessionality; and in research, we need to attract Interest and Income, and generate Innovation and Impact. Without strengthening the links between all giants, we will not be able to achieve the ambition of age-attuned societies. A key goal for gerontological education is to enhance everyone's understanding of the wide diversity underlying the 'older people' demographic label, which will ultimately promote services and societies that are more responsive and inclusive to the needs of all older adults, irrespective of their health status. [ABSTRACT FROM AUTHOR]

Background: Microdeletions of the 7q11.23 Williams-Beuren syndrome chromosome region (WBSCR) are reported with a frequency of 1 in 10,000, whereas microduplications of the region, although expected to occur at the same frequency, are not widely reported. Method: We evaluated a 9-year old Omani boy for idiopathic intellectual disability using genetic methods, including multiplex ligation-dependent probe amplification (MLPA), for detection of microdeletions (P064-B3). Results: MLPA analysis revealed that the boy has a rare microduplication of the WBSCR. Prominent clinical features include global developmental delay with pronounced speech delay, dysmorphic facies, and autistic features. Conclusion: Microduplications, in general, are reported ata lesser frequency, perhaps owing to their milder phenotype. Complete genetic assessment in children with idiopathic intellectual disability would help in identifying rare conditions such as duplication of the WBSCR. [ABSTRACT FROM AUTHOR]

Background There is an emerging evidence that the migration and the ethnic minority status are associated with the risks of autism spectrum disorder (ASD) and intellectual disability (ID). This systematic review aimed to investigate whether associations are specific to ASD or ID; whether and which migration-related or ethnically determined factors are associated with the risk of ASD and ID; and what mechanisms may explain these risks. Methods A systematic literature search was conducted using Embase, Medline and PsycINFO for studies reporting on the risks of ASD and/or ID among migrants, descendants of migrants and/or ethnic minorities. Risks of any ASD, ASD + ID, ASD – ID and any ID were reviewed in relation to migration and ethnic minority status, with consideration to the study quality. In addition, possible underlying mechanisms suggested in the included studies were summarized. Results Thirty-five studies were included. The summarized evidence indicated an increased risk of ASD + ID and a decreased risk of ASD – ID in migrants, descendants of migrants and ethnic minorities. These associations appeared more pronounced among children of migrant mothers, with origin in low-income countries, and among descendants of migrants. Data on ID were scarce. Suggested mechanisms explaining the increased risks of ASD + ID included environmental factors acting in utero and genetic factors (including consanguinity), while ascertainment bias was proposed to account for the lowered risks of diagnosed ASD – ID. Conclusion Migration-related factors acting in utero and/or associated with origin in low-income countries may be important in the ASD + ID aetiology, although further confirmative studies are needed. [ABSTRACT FROM AUTHOR]

Background: Maternal diabetes has been associated with a risk of neurodevelopmental disorders (NDDs) in offspring, though the common co-occurrence of autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD) and intellectual disability (ID) is rarely considered, nor is the potential for confounding by shared familial factors (e.g. genetics).Methods: This population-based cohort study used data from Psychiatry Sweden, a linkage of Swedish national registers, to follow 2 369 680 individuals born from 1987 to 2010. We used population-averaged logit models to examine the association between exposure to maternal type 1 diabetes mellitus (T1DM), pre-gestational type 2 diabetes mellitus (T2DM) or gestational diabetes mellitus (GDM), and odds of NDDs in offspring. Subgroup analysis was then performed to investigate the timings of GDM diagnosis during pregnancy and its effect on the odds of NDDs in offspring. We compared these results to models considering paternal lifetime T1DM and T2DM as exposures.Results: Overall, 45 678 individuals (1.93%) were diagnosed with ASD, 20 823 (0.88%) with ID and 102 018 (4.31%) with ADHD. All types of maternal diabetes were associated with odds of NDDs, with T2DM most strongly associated with any diagnosis of ASD (odds ratioadjusted 1.37, 95% confidence interval 1.03-1.84), ID (2.09, 1.53-2.87) and ADHD (1.43, 1.16-1.77). Considering common co-morbid groups, the associations were strongest between maternal diabetes and diagnostic combinations that included ID. Paternal T1DM and T2DM diagnoses were also associated with offspring NDDs, but these associations were weaker than those with maternal diabetes. Diagnosis of GDM between 27 and 30 weeks of gestation was generally associated with the greatest risk of NDDs in offspring, with the strongest associations for outcomes that included ID.Conclusion: The association of maternal diabetes with NDDs in offspring varies depending on the co-morbid presentation of the NDDs, with the greatest odds associated with outcomes that included ID. Results of paternal-comparison studies suggest that the above associations are likely to be partly confounded by shared familial factors, such as genetic liability. [ABSTRACT FROM AUTHOR]

Background Exposure to discrimination can have a negative impact on health. There is little robust evidence on the prevalence of exposure of people with disabilities to discrimination, the sources and nature of discrimination they face, and the personal and contextual factors associated with increased risk of exposure. Methods Secondary analysis of de-identified cross-sectional data from the three waves of the UK's 'Life Opportunities Survey'. Results In the UK (i) adults with disabilities were over three times more likely than their peers to be exposed to discrimination, (ii) the two most common sources of discrimination were strangers in the street and health staff and (iii) discrimination was more likely to be reported by participants who were younger, more highly educated, who were unemployed or economically inactive, who reported financial stress or material hardship and who had impairments associated with hearing, memory/speaking, dexterity, behavioural/mental health, intellectual/learning difficulties and breathing. Conclusions Discrimination faced by people with disabilities is an under-recognised public health problem that is likely to contribute to disability-based health inequities. Public health policy, research and practice needs to concentrate efforts on developing programs that reduce discrimination experienced by people with disabilities. [ABSTRACT FROM AUTHOR]

Polyunsaturated fatty acids (PUFAs) are critical for brain development and have been linked with neurodevelopmental outcomes. We conducted a population-based case-control study in California to examine the association between PUFAs measured in midpregnancy serum samples and autism spectrum disorder (ASD) in offspring. ASD cases (n  = 499) were identified through the California Department of Developmental Services and matched to live-birth population controls (n  = 502) on birth month, year (2010 or 2011), and sex. Logistic regression models were used to examine crude and adjusted associations. In secondary analyses, we examined ASD with and without co-occurring intellectual disability (ID; n  = 67 and n = 432, respectively) and effect modification by sex and ethnicity. No clear patterns emerged, though there was a modest inverse association with the top quartile of linoleic acid level (highest quartile vs. lowest: adjusted odds ratio = 0.74, 95% confidence interval: 0.49, 1.11; P for trend = 0.10). Lower levels of total and ω-3 PUFAs were associated with ASD with ID (lowest decile of total PUFAs vs. deciles 4–7: adjusted odds ratio = 2.78, 95% confidence interval: 1.13, 6.82) but not ASD without ID. We did not observe evidence of effect modification by the factors examined. These findings do not suggest a strong association between midpregnancy PUFA levels and ASD. In further work, researchers should consider associations with ASD with ID and in other time windows. [ABSTRACT FROM AUTHOR]

Background: Extremely high rates of mortality and morbidity have been reported among people with intellectual disabilities. Virtually no research has addressed the potential social determinants of health status within this very vulnerable population. Method: Cross-sectional survey of self-reported health status and indicators of socioeconomic disadvantage and social connectedness in 1273 English adults with mild or moderate intellectual disabilities. Results: Indicators of socioeconomic disadvantage accounted for a statistically significant proportion of variation in health status, over and above any variation attributable to the personal characteristics and living circumstances of participants. Indicators of social participation and networks did not add to the explanatory power of the model. Among the indicators of socioeconomic disadvantage, hardship was more strongly associated with variation in health status than either employment status or area-level deprivation. Conclusion: As in the general population, self-reported health was associated with indicators of socioeconomic disadvantage, especially hardship. In contrast, there was no evidence of any association between health status and social participation and networks. [ABSTRACT FROM AUTHOR]

Background There is increasing evidence that certain genetic variants increase the risk of schizophrenia and other neurodevelopmental disorders. Exome sequencing has been shown to have a high diagnostic yield for developmental disability and testing for copy number variants has been advocated for schizophrenia. The diagnostic yield for exome sequencing in schizophrenia is unknown. Method A sample of 591 exome-sequenced schizophrenia cases and their parents were screened for disruptive and damaging variants in autosomal genes listed in the Genomics England panels for intellectual disability and other neurological disorders. Results Previously reported disruptive de novo variants were noted in SETD1A , POGZ , SCN2A, and ZMYND11. Although the loss of function of ZMYND11 is a recognized cause of intellectual disability, it has not previously been noted as a risk factor for schizophrenia. A damaging de novo variant of uncertain significance was noted in NRXN1. A previously reported homozygous damaging variant in BLM is predicted to cause Bloom syndrome in 1 case and 1 case was homozygous for a damaging variant in MCPH1 , a result of uncertain significance. There were more than 400 disruptive and damaging variants in the target genes in cases but similar numbers were seen among untransmitted parental alleles and none appeared to be clinically significant. Conclusions The diagnostic yield from exome sequencing in schizophrenia is low. Disruptive and damaging variants seen in known neuropsychiatric genes should not be automatically assumed to have an etiological role if observed in a patient with schizophrenia. [ABSTRACT FROM AUTHOR]

Background We report on the development of the ‘STOP Diabetes’ education programme, a multi-component lifestyle behaviour change intervention for the prevention of type 2 diabetes and cardiovascular risk factors in adults with intellectual disabilities (ID). Methods We combined qualitative stakeholder interviews with evidence reviews to develop the intervention, guided by the MRC Framework and informed by intervention mapping and two existing diabetes prevention programmes. We conducted two pilot cycles drawing on additional stakeholder interviews to inform and refine the intervention. Results The STOP Diabetes education programme employed a theoretical framework, using sound learning and behavioural principles and concrete kinaesthetic methods, to provide the grounding for innovative games and activities to promote health behaviour change in adults with ID. Qualitative data also suggested that two educators and one support person delivering a programme of one carer session followed by seven 2.5-h sessions over 7 weeks was acceptable to service users, carers and educators and appeared to benefit the participants. Conclusions The STOP Diabetes education programme was successfully developed and is suitable for a definitive randomized controlled trial. [ABSTRACT FROM AUTHOR]

Aims Individuals with fetal alcohol spectrum disorder (FASD) frequently have challenges with regulating emotional arousal, or affect regulation (AR), and experience high rates of mental health disorders. This study examined children and adults with FASD to investigate the relationship between AR impairment and several mental health problems and diagnoses. Methods Data from the Canadian national FASD database was used for analysis. Seven mental health diagnoses, including attention-deficit/hyperactivity disorder, post-traumatic stress disorder, conduct disorder, attachment disorder, intellectual disability, and language disorder were examined. A history of suicidality was also examined. The prevalence of these mental health problems in individuals with and without AR impairment was compared. Results Individuals with FASD and AR impairment were significantly more likely to be diagnosed with conduct disorder (OR 4.8), attachment disorder (OR 6.1), or post-traumatic stress disorder (OR 8.1) when compared to those without AR impairment. They were also more likely to have a history of suicidality (OR 8.6). AR impairment was most commonly found in those with greater overall neurodevelopmental impairment. Having AR impairment was associated with receiving a diagnosis of FASD at a later age, but was not related to gender, intellectual disability, or language disorder. Conclusion AR impairment is strongly related to several mental health diagnoses in those with FASD and presents some promising possibilities for targeted early intervention. [ABSTRACT FROM AUTHOR]

The aim of this study was to explore barriers and facilitators in the implementation of a health course for adults with mild or moderate intellectual disabilities. An inductive qualitative design was used. Data were collected from a health course conducted in 16 study groups with 83 participants in Stockholm, Sweden by unstructured observations in course sessions, a group discussion with course leaders and evaluation notes from the course leaders. The data were analysed by qualitative content analysis. Four categories were identified: (i) ‘individual characteristics’, implying various needs, (ii) ‘pedagogical strategies’ used to meet those needs, (iii) ‘interaction within the course’, dealing with active and less active participation and (iv) ‘structures’, including learning climate and organizing. The overarching theme ‘creating an individualized supportive context’ describes the challenge of educating people with intellectual disabilities towards an empowered and well informed decision making regarding their own health. Therefore, there is a need for support not only within the course but also from the social and physical environment as well. [ABSTRACT FROM AUTHOR]

Objective. We report the experience of the Italian Registry of patients affected by chronic infantile neurological, cutaneous, articular (CINCA) syndrome. The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin mutations on the phenotype of the disease and on its prognosis.Methods. The clinical features of 12 Italian CINCA patients were evaluated. Genomic DNA of the patients was sequenced using specific primers for CIAS1 and ASC genes.Results. Our patients shared typical CINCA characteristics and, sometimes, remarkable perinatal events, peculiar of CIAS1-mutated patients. Seven patients carried CIAS1 missense mutation, localized within the nucleotide binding domain of cryopyrin. Four previously described mutations and three new heterozygous CIAS1 missense mutations were identified. ASC gene, encoding for a direct interactor of cryopyrin, was not mutated in Italian CINCA patients. Finally, we reported the efficacy and safety of anti-IL1 therapy (Anakinra) in seven patients with a particularly severe CINCA phenotype.Conclusion. Despite some common signs—used as syndrome hallmarks—we observed a high variability in symptoms, genetic results and outcomes in Italian CINCA patients. In contrast with other authors, we cannot find out any correlation between mutations in CIAS1 and CINCA severity, but we underlined the concomitance of perinatal events and mental retardation only in CIAS1 mutated subjects. Finally, we confirmed the efficacy of Anakinra treatment, both in CIAS1-mutated and non-mutated patients. [ABSTRACT FROM AUTHOR]

All people have a right to equal healthcare without discrimination on the basis of disabilities. In practice, however, health inequalities still remain. Ideally we would define future public health having sufficient attention to minority groups and their specific needs. One of these groups is people with intellectual disabilities (ID), defined by severe limitations in adaptive and functional behaviour. As a result of these limitations, people with ID suffer from worse health, higher hospitalisation rates and higher premature mortality compared to people without ID. In reducing these health inequalities acquiring accurate information on disease epidemiology in people with ID compared to those without ID is crucial. However, this crucial information is still lacking. This workshop will dive into disease epidemiology in people with ID by highlighting different aspects of health and the difficulties that arise when researching people with ID. First, It has been proven difficult to identify ID in existing data sources. ID-diagnoses in medical records are not too reliable, physicians do not always recognise IDs, or people are embarrassed of their ID-diagnosis. By gaining information on received services or supports specifically for people with ID a more complete representation of the ID-population is gained. Second, prevalence rates on chronic diseases in people with ID are often inconsistent across the literature, probably due to different age and sex patterns of chronic diseases and chronic comorbidities compared to people without ID, but these patterns are often not taken into account. By reporting on chronic disease prevalence and comorbidity patterns in people with versus without ID, a novel insight is gained in comparative epidemiology of chronic diseases of people with and without ID. Third, although it is known that people with mild ID suffer more mental health disorders dan people with no ID, exact prevalence rates and data on the care provided to these people in mental health services is missing. A retrospect database study performed in Dutch mental health care gives insight in this knowledge gap, not only for those people whom are recorded with their mild ID in these mental health services, but also for those people who were not recorded as such. Fourth, the current pandemic of a novel infectious disease stresses the strong need for accurate knowledge of disease epidemiology, particularly concerning high-risk groups such as people with ID. A largescale registration of COVID-19 in people with ID living in residential settings was developed in the Netherlands, to provide necessary insight in the medical impact of COVID-19 among people with ID and inform policy makers and care providers on specific risks and consequences of COVID-19 in the ID population as compared with the general population. Key messages: • Insight in disease epidemiology and disease care in people with intellectual disabilities compared to people without intellectual disabilities is crucial in reducing health inequalities. • Although it is difficult to identify all people with intellectual disabilities in data sources, using multiple methods and data sources results in a more complete overview of this group of people. [ABSTRACT FROM AUTHOR]

The article examines the effect of improved vocational training and independent living on the lives of mentally retarded adults. The article describes problems encountered by graduates of the Employment Training Program (ETP) at the University of Washington. This ETP program contained three elements: Jobskills training, competitive job placement, and employment support services as long-term follow-up programming. Reasons for job failure is discussed and it has been classified as work related, nonvocationally related, or a combination of factors. The nonvocational reasons are most germane to this discussion and were involved in 44 percent of the trainee's job losses. It was found that funds spent on skills training and job placement are wasted unless some form of long-term employment support service is provided. And, current training in independent living is not adequate to prepare moderately retarded adults to manage their lives so that job losses can be avoided. In the end some recommendations are provided to improve social work and vocational services.

The article deals with a study on the quality of life of mentally retarded people in residential care. Most research related to the adaptation and community adjustment of mentally retarded people in residential facilities has examined characteristics of the individual, such as age, intelligence quotient, or length of institutionalization. Less emphasis has been placed on examining the quality of life within residential facilities or the quality of interaction among residents and members of the surrounding community. This article presents nationally representative data collected in a study of the family, social, and leisure activities of mentally retarded people living in public and community residential facilities. The study included 2,271 residents (57.7 percent of whom were male) in 236 residential facilities for mentally retarded people. Residents, who ranged in age from less than 1 year to, 78 years old, were selected through a two-stage sampling design.

The article discusses the experience of a transitional home for mentally retarded adults in transitional institutional care. The central objective of the project was to demonstrate that the integration of the retarded into community life can be a viable alternative to institutional and long-term care. Project Open Door was developed as a transitional living facility for mentally retarded adults. It was located in large house on a residential street near the campus of the University Kentucky, Lexington. The program at Project Open Door was based on the principles of normalization and humanization. The project relied on a model of socialization that incorporated principles of normalization and humanization by providing learning situations through which the resident could develop skills and correct problem behaviors. Numerous implications were drawn from the experience at Project Open Door. In the conclusion the article gives information on the evaluation of mentally retarded individual's ability to live in the community.

People with mild ID suffer more mental health disorders (MHD) than people without ID. Practitioners working in mental health services (MHS) indicate limited knowledge and experience to provide the care needed. Besides diagnosing MHD, identification of the ID itself is a challenge and not all people with a ID are recorded in the MHS as such. These factors contribute to insufficient care and can result in chronic, more difficult to treat MHD. For this study, all adult users of Dutch MHS between 2015 and 2017 were enrolled in MHS databases of Statistics Netherlands. Presence of mild ID was established by linking MHS data with social services and chronic care databases. Characteristics of new cases of MHC were analyzed and compared between patients with and without mild ID. Linking databases identified 11,374 MHC patients with mild ID, and 525,162 patients without ID. A substantial proportion of patients with mild ID did not have this characteristic noted in their MHS records (60.6%). Preliminary results showed people with mild ID were younger, were more often man, had different diagnostic profiles, required more crisis interventions, and more psychiatric hospital admissions compared to people without ID. In addition, people with a mild ID and no ID record in MHS received less treatment compared to both people with mild ID and a ID record, and people with no ID. According to these findings, the prevalence of MHD and provided care between people with and without a mild ID, in MHS deviated. The Mild ID is potentially under recognized among MHS patients. The findings are a first step towards improving mental healthcare for patients with ID. [ABSTRACT FROM AUTHOR]

Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summarize the current clinical evidence regarding ADHD, 2) Establish a standard for ADHD care, and 3) Assist Canadian clinicians in making well-informed, evidence-based decisions to enhance care of children and youth with this condition. Specific topics reviewed in Part 3, which focuses on associated autism spectrum disorder, intellectual disability, and prematurity, include the challenges of diagnostic assessment, common presentations, the role of genetics, and treatment, including the benefits of physical activity. Recommendations are based on current guidelines, evidence from the literature, and expert consensus. [ABSTRACT FROM AUTHOR]

Background Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt–Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD). Methods Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools. Results We identify 10604 TCF4 binding sites in the genome that were assigned to 5437 genes. De novo motif enrichment found that most TCF4 binding sites contained at least one E-box (5′-CAtcTG). Approximately 77% of TCF4 binding sites overlapped with the H3K27ac histone modification for active enhancers. Enrichment analysis on the set of TCF4 targets identified numerous, highly significant functional clusters for pathways including nervous system development, ion transport and signal transduction, and co-expression modules for genes associated with synaptic function and brain development. Importantly, we found that genes harboring de novo mutations in schizophrenia (P = 5.3 × 10−7), ASD (P = 2.5 × 10−4), and ID (P = 7.6 × 10−3) were also enriched among TCF4 targets. TCF4 binding sites were also found at other schizophrenia risk loci including the nicotinic acetylcholine receptor cluster, CHRNA5 / CHRNA3 / CHRNB4 and SETD1A. Conclusions These data demonstrate that TCF4 binding sites are found in a large number of neuronal genes that include many genetic risk factors for common neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

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RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndrome of intellectual disability, aberrant behaviour, hypotonia and mild facial dysmorphism with normal brain MRI. Further, we show that RSRC1 is ubiquitously expressed, and that the RSRC1 mutation triggers nonsense-mediated mRNA decay of the RSRC1 transcript in patients' fibroblasts. Short hairpin RNA (shRNA)-mediated lentiviral silencing and overexpression of RSRC1 in SH-SY5Y cells demonstrated that RSRC1 has a role in alternative splicing and transcription regulation. Transcriptome profiling of RSRC1-silenced cells unravelled specific differentially expressed genes previously associated with intellectual disability, hypotonia and schizophrenia, relevant to the disease phenotype. Protein-protein interaction network modelling suggested possible intermediate interactions by which RSRC1 affects gene-specific differential expression. Patient-derived induced pluripotent stem cells, differentiated into neural progenitor cells, showed expression dynamics similar to the RSRC1-silenced SH-SY5Y model. Notably, patient neural progenitor cells had 9.6-fold downregulated expression of IGFBP3, whose brain expression is affected by MECP2, aberrant in Rett syndrome. Interestingly, Igfbp3-null mice have behavioural impairment, abnormal synaptic function and monoaminergic neurotransmission, likely correlating with the disease phenotype. [ABSTRACT FROM AUTHOR]

This article focuses on the development of the Program for Learning-Disabled College Students at Adelphi University in New York. From the outset, it was realized that a broad range of interdisciplinary support services and intervention strategies would be needed to develop to the maximum these students' ability to compete and succeed in college courses. During five years of experience, the authors have observed educational achievement and emotional growth of students in the program. The ecological perspective recognizes the evolving interrelationships and mutual shaping between individuals and their environments. The focus of this perspective is on the dysfunctional transactions between the two Professional intervention addresses individual problems and dysfunctional environments simultaneously and reconceptualizes them as problems in living. The professional skills required to use this perspective in practice are varied and demanding and are not usually found in one individual or in one discipline. The program, therefore, employs full-time professional social workers and special education teachers.

The country's recent surge of human rights movements helped create a sensitivity to the rights of mental patients. How effectively have the principles and objectives of the rights movement for the mentally ill been translated into ongoing advocacy programs? What issues surround this type of advocacy? This article takes a close look. [ABSTRACT FROM AUTHOR]

The article describes a study which was conducted to determine whether the stress experienced by families of mentally retarded adults was a function of characteristics of care givers. Results from this study indicate that marital status of the caregiver, selected characteristics of the adult family member that is level of mental retardation, health status and frequency of maladaptive behaviors, the total number of services needed, and the level of personal care and supervision needed were related to stress experienced by families. These findings point to the need for the expansion of community. Social workers must learn to listen to how the families define their situations, explore with them resources that are available to them and support them in deciding which resources would be the most beneficial. Social workers cannot assume they know what is best for families. Social workers can connect families with parent support groups, these groups provide emotional support and teach parents to use their own strengths arid develop coping skills that help them face their particular difficulties.

This article addresses the family's experience of caring for a mentally ill family member in the home. The focus is on how the family manages overt psychotic symptoms and the resulting interpersonal stresses. A model of intervention is proposed that allows therapists and families to examine the con- tent and context of the psychotic material and to intervene in nonthreatening ways. This model has its base in psychoeducation and communications theory. The effectiveness of the content and context model is developed through the analysis of two case examples. The cases show the intervention to be helpful in decreasing family stress and in establishing empathic awareness between the family and the ill member. Implications for adapting this model to the psychoeducational model with the goal of enhancing the family's caretaking role are reviewed. [ABSTRACT FROM AUTHOR]

Almost all of today's deinstitutionalized mental patients depend on a maintenance regimen of psychotropic medication and social and family support to remain out of the hospitals, away from the jails, and off the streets. Preparing families to help patients remain in the community is a natural role for social workers. Noncompliance with medication is pervasive in community care of mentally ill people and thus a major source of frustration and tension for families. Because adherence to medication often plays a crucial role in reducing symptoms, preventing or forestalling rehospitalization, and increasing prosocial behavior in patients, strategies must be developed to promote compliance. The goals of the medication curriculum in education programs for families of mentally ill people are to increase the patient's and caregiver's knowledge and to influence their attitudes about psychotropic medication. Communication and problem-solving skills are a foundation for meeting the wide variety of needs that arise in the community management of people with mental disorders.

The article deals with community-based day treatment for mentally retarded adults. The community is where social workers began and where they continue to be competent and versatile. Similarly, the need for cost-efficient, cost-effective service has slowly influenced the movement of care and training from medical institutions to community-based facilities. Licensed, certified social workers embrace an imperative to be knowledgeable, sensitive, and educated to the needs of the population served. Quality of service and primacy of client interests are regarded as fundamental tenets of practice. Medicaid's current service guidelines underscore these professional principles of practice for settings designed to accommodate people who are developmentally disabled/mentally retarded. The age, length of institutionalization or family enmeshment, language, culture and degree of physical, mental, or emotional handicap determines the level of treatment. Initially, one should not be discouraged by apparent intellectual constraints. Standard language and intellectual functioning tests do not address historical paucity of the consumers' everyday experiences. Initial testing and a retesting program results in encouraging profiles of growth as exposure to life events and their symbolic vocabulary increases.

Increasing numbers of mentally retarded people now marry and have children, yet few support services exist for their special family and pa renting needs. In this article, the authors describe a program of instruction in Parent-child interactions, medical care, hygiene, and home management, designed for mentally retarded parents and their preschool children, Problems and issues particular to mentally retarded parents include the special teaching problems associated with mentally retarded parents, such as a failure to generalize learning; emotional issues, such as self-esteem, burnout, and failure of both personal and professional support systems; and legal issues. [ABSTRACT FROM AUTHOR]

Background: Accurate health information exchange (HIE) is pivotal for good quality of care. However, patients with intellectual disabilities (ID) face challenges in processing and exchanging health information around GP consultations. Knowledge of HIE barriers and facilitators, including the roles of carers, may help to improve GP care for people with ID.Objective: To gain more insight into HIE barriers and facilitators for ID patients in GP care.Methods: A qualitative study exploring GP consultation experiences of people with ID (n = 35), professional carers (n = 20) and relatives (n = 15). Transcripts from interviews and focus groups were analyzed using a framework analysis approach.Results: Analyses resulted in four themes: (i) Recognizing patient health needs; (ii) Impaired doctor-patient communication; (iii) Carers' mediating roles during consultations; and (iv) Patients' autonomy and self-determination. Barriers related to communication skills, lack of time, continuity of carers and physicians, information alignment between relative or professional carer and the GP, and information transfer and recording within the patient network. Facilitating factors related mainly to carer interventions, personal connections with patients and GP communication with patients and carers outside the consultation.Conclusion: There is considerable HIE potential in patients themselves, as well as in their network, although many barriers have to be overcome to profit from this. GP practices are recommended to adjust consultations and communication practices and to facilitate deployment of the patient's network, while still considering patient autonomy. [ABSTRACT FROM AUTHOR]

Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α3-subunit of the GABAA receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α3-subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype. The microduplication disrupted GABRA3 expression in fibroblasts of the affected patient. In summary, our results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern. [ABSTRACT FROM AUTHOR]