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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Lay-Son,Guillermo; Espinoza,Karena; Vial,Cecilia; Rivera,Juan C.; Guzmán,María L.; Repetto,Gabriela M.
Fonte: Sociedade Brasileira de Pediatria Publicador: Sociedade Brasileira de Pediatria
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/04/2015 EN
Relevância na Pesquisa
66.48%
OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

Issues in aging in individuals with life long disabilities

Connolly,BH
Fonte: Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia Publicador: Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2006 EN
Relevância na Pesquisa
56.59%
INTRODUCTION: The major research data and findings related to aging among persons with developmental disabilities are discussed. Topics addressed include prevalence and mortality rates, as well as the effects of aging on the sensory systems, the neuromusculoskeletal system and the cardiopulmonary system. The discussion also focuses on the clinical implications of these changes among aging individuals with developmental disabilities. CONCLUSION: Although the individual needs of persons with developmental disabilities vary greatly, knowledge of the effects of aging on this group of individuals can facilitate more effective healthcare by physical therapists for all adults with developmental disabilities.

Factors associated with bruxism in children with developmental disabilities

SOUZA,Valeska Aparecida Fernandes; ABREU,Mauro Henrique Nogueira Guimarães; RESENDE,Vera Lúcia Silva; CASTILHO,Lia Silva
Fonte: Sociedade Brasileira de Pesquisa Odontológica - SBPqO Publicador: Sociedade Brasileira de Pesquisa Odontológica - SBPqO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2015 EN
Relevância na Pesquisa
66.49%
The aim of the present study was to investigate factors associated with bruxism in children aged from 1 to 13 years with developmental disabilities. A total of 389 dental records were examined. The bruxism analyzed was determined based on parental reports. The following variables were also analyzed: gender, age, International Code of Diseases (ICD), mouth breathing, history of gastroesophageal reflux, use of psychotropic drugs, gingival status, reports of xerostomia, hyperkinesis, pacifier use, thumb sucking and involuntary movements. For the purposes of analysis, the individuals were categorized as being with and without bruxism. Variables with a p-value < 0.25 in the bivariate analysis were incorporated into the logistic regression models. Females had a 0.44-fold (95%CI: 0.25 to 0.78) greater chance of exhibiting bruxism than males. Individuals with gastroesophageal reflux had a 2.28-fold (95%CI: 1.03 to 5.02) greater chance of exhibiting bruxism. Individuals with reported involuntary movements had a 2.24-fold (95%CI: 1.19 to 4.24) greater chance of exhibiting bruxism than those without such movements. Exhibiting involuntary movements, the male gender and gastroesophageal reflux are factors associated with bruxism in children with developmental disabilities.

Health disparities among adults with developmental disabilities, adults with other disabilities, and adults not reporting disability in North Carolina.

Havercamp, Susan M.; Scandlin, Donna; Roth, Marcia
Fonte: Association of Schools of Public Health Publicador: Association of Schools of Public Health
Tipo: Artigo de Revista Científica
Publicado em //2004 EN
Relevância na Pesquisa
46.75%
OBJECTIVES: The purposes of this study were (1) to identify disparities between adults with developmental disabilities and non-disabled adults in health and medical care, and (2) to compare this pattern of disparities to the pattern of disparities between adults with other disabilities and adults without disabilities. METHODS: The authors compared data on health status, health risk behaviors, chronic health conditions, and utilization of medical care across three groups of adults: No Disability, Disability, and Developmental Disability. Data sources were the 2001 North Carolina Behavioral Risk Factor Surveillance System and the North Carolina National Core Indicators survey. RESULTS: Adults with developmental disabilities were more likely to lead sedentary lifestyles and seven times as likely to report inadequate emotional support, compared with adults without disabilities. Adults with disabilities and developmental disabilities were significantly more likely to report being in fair or poor health than adults without disabilities. Similar rates of tobacco use and overweight/obesity were reported. Adults with developmental disabilities had a similar or greater risk of having four of five chronic health conditions compared with non-disabled adults. Significant medical care utilization disparities were found for breast and cervical cancer screening as well as for oral health care. Adults with developmental disabilities presented a unique risk for inadequate emotional support and low utilization of breast and cervical cancer screenings. CONCLUSIONS: Significant disparities in health and medical care utilization were found for adults with developmental disabilities relative to non-disabled adults. The National Core Indicators protocol offers a sound methodology to gather much-needed surveillance information on the health status...

Community Recreation and Leisure Activities in Adults with Developmental Disabilities who have Recently Relocated to Community-based Residences in Ontario

White, Keeley
Fonte: Brock University Publicador: Brock University
Relevância na Pesquisa
66.38%
In 2009, the Ontario Government closed the last three remaining large-scale institutions for people with Developmental Disabilities (DD). The purpose of this study is to examine the community-based recreation and leisure activities of 87 adults with DD who have recently moved into the community. Study 1 provided a descriptive insight into the community recreation and leisure activities, and revealed that people with DD engage in low levels of community activities, however are reported to have the desire to engage more often. Staff reported that people with DD do not have the opportunities to engage in their preferable activities. Study 2 investigated the prbspective predictors of the number and frequency of community, recreation and leisure activities and found that a higher level of functioning predicted a greater number of community activities ([beta] = .26, P < .05), while both a higher level of functioning ([beta] = .38,p < .001) and greater preference ([beta] = .23. p < .05) predicted more frequent access to community activities. Future research and the implications of the findings for clinical practice and policy development were discussed.

The Social Enterprise as an Alternative Work Option for Persons with Developmental Disabilities: A Case Study of Staff Perspectives at Common Ground Co-operative

Bishop, Courtney
Fonte: Brock University Publicador: Brock University
Tipo: Electronic Thesis or Dissertation
ENG
Relevância na Pesquisa
56.66%
Traditional employment options for persons with developmental disabilities are lacking. Employment options available for persons with developmental disabilities are reflective of the medical and social model perspectives of disability; with segregated and supported employment reinforcing the idea that persons with developmental disabilities are incapable and competitive employment missing the necessary accommodations for persons to be successful. This study examined social enterprises as an alternative employment option that can balance both medical and social model perspectives by accommodating for weaknesses or limitations and recognizing the strengths and capabilities of persons with developmental disabilities in the workplace. Moreover, this study is part of a broader case study which is examining the nature and impacts of a social enterprise, known as Common Ground Co-operative (CGC), which supports five social purpose businesses that are owned and operated by persons with developmental disabilities. This study is part of the Social Business and Marginalized Social Groups Community-University Research Alliance. To date, a case study has been written describing the nature and impacts of CGC and its related businesses from the perspectives of the Partners...

Social support and mastery influence the association between stress and poor physical health in parents caring for children with developmental disabilities

Cantwell, Joanne; Muldoon, Orla T; Gallagher, Stephen
Fonte: Elsevier Publicador: Elsevier
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
ENG
Relevância na Pesquisa
56.52%
peer-reviewed; To date, much of the research linking the stress of caring for children with developmental disabilities (e.g. Autism & Down syndrome) with parental health outcomes have tended to concentrate on mental health with less attention paid to the physical health consequences. Thus, this study sought to explore the psychosocial predictors of poor physical health in these caring parents. One hundred and sixty-seven parents (109 caregivers and 58 control parents) completed measures of stress, child problem behaviours, social support, mastery and physical health. Parents of children with developmental disabilities had poorer physical health compared to control parents. Stress and mastery, but not social support and problem behaviours, were significant predictors of poor physical health within caring parents for children with developmental disabilities. However, the association between mastery and physical health was mediated by perceived stress such that those parents who were higher on mastery reported less stress and better physical health; furthermore, the association between stress and physical health was moderated by social support; those parents high on social support and low in stress had better physical health. These results indicate that the paths between psychosocial factors and poor physical health in the caring parents are working synergistically rather than in isolation. They also underscore the importance of providing multi-component interventions that offer a variety of psychosocial resources to meet the precise needs of the parents. (C) 2014 Elsevier Ltd. All rights reserved.; ACCEPTED; peer-reviewed

Depression and chronic health conditions in parents of children with and without developmental disabilities: the growing up in Ireland cohort study

Gallagher, Stephen; Hannigan, Ailish
Fonte: Elsevier Publicador: Elsevier
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
ENG
Relevância na Pesquisa
66.63%
peer-reviewed; Epidemiological evidence suggests that poor physical health and depression are highly comorbid. To date, however, no study has considered whether depression in parents caring for children with developmental disabilities is partly driven by poor physical health. Using data from the Growing Up in Ireland national cohort study (2006 to date), 627 parents of children with developmental disabilities were compared with 7941 parents of typically developing children on scores from the Centre for Epidemiological Depression Scale, chronic health conditions, socio-demographic and child behavioural characteristics. Having a child with disabilities was associated with a higher risk of depression (odds ratio (OR) = 1.83, 95% confidence interval (CI): 1.43, 2.35) compared to parents of typically developing children. Adjusting for the presence of chronic health conditions accounted for some of this excess risk (OR = 1.77,95% Cl: 1.38, 2.27). The association between having a child with disabilities and increased risk of depression was explained, however, by adjusting for the child problem behaviours (OR = 1.07, 95% Cl: 0.81, 1.43). This study has confirmed, in a population-based sample, the high risk of depression in parents caring for children with developmental disabilities after adjusting for the presence of a chronic health condition. Importantly...

Caregiving for children with developmental disabilities is associated with a poor antibody response to influenza vaccination

Gallagher, Stephen; Phillips, Anna C; Drayson, Mark T; Carroll, Douglas
Fonte: Lippincott, Williams & Wilins Publicador: Lippincott, Williams & Wilins
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
ENG
Relevância na Pesquisa
66.56%
peer-reviewed; Objective: Older spousal caregivers of dementia patients have been found to show a relatively poor antibody response to medical vaccination. The present case control study compared the antibody responses to vaccination of younger parental caregivers of children with developmental disabilities and parents of typically developing children. Methods: At baseline assessment, 32 parents of children with developmental disabilities and 29 parents of typically developing children completed standard measures of perceived stress and child problem behaviours. They also provided a blood sample and were then vaccinated with the thymus-dependent trivalent influenza vaccine. Further blood samples were taken at 1- and 6-month follow-ups. Results: Relative to parents of typically developing children (mean titre = 458, SD = 155.7 at 1-month and mean titre = 265, SD = 483.0 at 6-month followup) caregivers (mean titre = 219, SD = 528.4 at 1-month and 86, SD = 55.0 at 6- month) mounted a poorer antibody response than controls to the B/Malaysia strain of the vaccine. It was those caregivers reporting more child problem behaviours that tended to show the weakest antibody response. Conclusion: The negative impact of caregiving on antibody response to vaccination would not appear to be restricted to older spousal caregivers...

Parental stress is associated with poor sleep quality in parents caring for children with developmental disabilities

Gallagher, Stephen; Phillips, Anna C; Carroll, Douglas
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Article; all_ul_research; ul_published_reviewed; none
ENG
Relevância na Pesquisa
66.61%
peer-reviewed; Objective This study examined the psychosocial predictors of poor sleep quality in parents caring for children with developmental disabilities. Methods Sixty-seven parents of children with developmental disabilities and 42 parents of typically developing children completed the Pittsburgh Sleep Quality Index, and measures of parental stress, child problem behaviors, and social support. Results Parents of children with developmental disabilities reported poorer sleep quality. Further, the majority of these parents met the established ‘poor sleepers’ criterion. The strongest predictor of poor sleep quality was parental stress. This finding withstood adjustment for a number of potential confounders. Conclusions Parental stress is associated with poor sleep quality in parents of children with developmental disabilities. The monitoring and management of sleep issues in these parental caregivers should be a priority for health professionals.

Parents of children with developmental disabilities report poorer physical health

Gallagher, Stephen; Whiteley, Jennifer; Shandley, L.; Dixon, K.; Lee, H
Fonte: University of Limerick Publicador: University of Limerick
Tipo: Conference item; all_ul_research; none
ENG
Relevância na Pesquisa
66.56%
non-peer-reviewed; Background: Older caregivers of patients with mental heath difficulties report poor physical health. This study examined whether younger parental caregivers of children with developmental disabilities would also report poor physical health. Methods: A cross-sectional between subjects design was used. Thirty-eight parents of children with developmental disabilities and 34 parents of typically developing children completed standard measures of perceived stress, social support, mastery and child problem behaviours. Results: ANOVA revealed that caregivers reported more physical health problems than controls (Mean = 52.5 + 12.24 vs 43.1 + 13.35; F (1, 70) = 9.62, p < .05). ANCOVA indicated that this appeared to be partly mediated by mastery and child problem behaviours. Conclusion: The negative impact of caregiving on self-report physical health is also evident in younger parents of children with developmental disabilities. The coping style of parents and the behavioural characteristics of the care recipients may be a key consideration in whether physical health is compromised in this context.

School integration and the friendships of youth with developmental disabilities

Sciberras, Juliann Marie.
Fonte: Brock University Publicador: Brock University
Tipo: Electronic Thesis or Dissertation
ENG
Relevância na Pesquisa
56.54%
- The present study was an investigation into the effect ofschool integration on the friendships ofyouth with developmental disabilities and their peers without disabilities. The youths, their parents, and their teachers provided insights into the youths' friendships. A qualitative paradigm was used in this research. The researcher guided the collection and analysis ofthe data with the phenomenologicallifeworld existentials of body, space, time, and human relation (Van Manen, 1990). Individual interviews were conducted with each youth, and group interviews were conducted with each triad (a youth, their parent(s), and their teacher) to discuss the youth's friendships and the supports necessary to facilitate the friendships. Through phenomenological analysis of the data, four thematic statements emerged: friendships are far from perfect, to have a friend you have to be a friend, parents as choreographers offriendship, and teachers as reluctant partners in friendship facilitation. Based on the results ofthis study, it was concluded that the development of friendships between youth with developmental disabilities and their peers without disabilities was happening in integrated school settings. However, it was also evident that the support ofteachers and parents alike were required to facilitate the development and maintenance ofsuch friendships. Recommendations for practice are discussed...

Social Economy and Developmental Disabilities: An Employment Option that Promotes a Form of Authentic Work and Fosters Social Inclusion

Readhead, Anne E.
Fonte: Brock University Publicador: Brock University
Relevância na Pesquisa
66.45%
Typical employment options for people with developmental disabilities are insufficient. Most employment opportunities that are community-based provide typical workplace and geographical inclusion but tend not to support social inclusion and "belonging". This study explored the innovative employment alternative of social businesses and considered this form of employment for persons with a developmental disability as a viable avenue for meaningful work and social inclusion. A total of six business partners with a developmental disability were interviewed; two partners from three separate worker owned businesses. The partners' descriptions of their job and their workplace composed the interpretative findings. The social businesses provided an avenue for this group of people who tend to be segregated in isolated workshops or marginalized in mainstream work environments and who feel a sense of being "outsiders" to participate in meaningful work in community settings. This group of partners described their job as authentic "work" and discussed the many skills and the work ethic learned from their employment opportunity. In addition to the instrumental aspects of the job, the partners also discussed the group autonomy and self-determination of being their own "bosses". The partners confidently expressed feeling valued...

Effect of Sibling Relationships on Well-being and Depression in Adults with and without Developmental Disabilities

Burbidge, JULIA
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado
EN; EN
Relevância na Pesquisa
56.28%
Siblings are an integral part of the support network for adults with a developmental disability (DD). However, little is known about the psychological stress of having a sibling with a DD in adulthood. This project had four main objectives: (1) to identify variables that predict and moderate psychological well-being and depressive symptoms in adults who have a sibling with a DD; (2) to examine differences in sibling relationship characteristics, psychological well-being, depressive symptoms, and support use in siblings of individuals with a DD alone versus siblings of individuals with a DD and symptoms of a mental illness; (3) to determine whether relationships with siblings with a DD differ from relationships with siblings without a DD; and (4) to explore the perspectives of adults with a DD regarding their sibling relationships and how these relationships affect their well-being. One-hundred ninety six adult siblings of individuals with a DD completed online questionnaires about life events, relationship closeness, sibling contact, impact of having a sibling with a DD, family functioning, use of supports, symptoms of depression, and psychological well-being. Life events and having a sibling with a DD and behavioural or psychiatric symptoms predicted symptoms of depression and psychological well-being. However...

Aging with intellectual and developmental disabilities: the effect of frailty and health instability in home care users on admission to long-term care

McKenzie, KATHERINE
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado
EN; EN
Relevância na Pesquisa
66.67%
BACKGROUND: An increasingly large proportion of adults with intellectual and developmental disabilities are frail. Measuring frailty is challenging, and generic measures of frailty inaccurately identify frailty in this population. In the general population, frailty reflects an increased risk of outcomes, including admission to long-term care. Institutionalization of adults with intellectual and developmental disabilities may be a reflection of high levels of frailty. OBJECTIVES: 1) To develop a frailty index for home care users with intellectual and developmental disabilities using Ontario standardized clinical assessment data, 2) to describe the prevalence of frailty among these adults, and 3) to determine the association between frailty and admission to long-term care. METHODS: A frailty index was developed using published criteria to select items from the Resident Assessment Instrument-Home Care. Assessments of 7,863 individuals with intellectual and developmental disabilities in Ontario (aged 18-99 years) provided the data. A comparison measure of health instability, the Changes in Health, End-stage disease, Signs and Symptoms scale, identified individuals as stable or unstable. Using a subset of this sample (n=3,034) retrospectively followed over four years...

Child problem behaviours are associated with obesity in parents caring for children with developmental disabilities

Gallagher, Stephen; Hannigan, Ailish
Fonte: Elsevier Publicador: Elsevier
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
ENG
Relevância na Pesquisa
56.44%
peer-reviewed; Epidemiological evidence suggests that obesity and depression are highly co-morbid. In a national cohort study, we examined whether parents caring for children with disabilities were more likely to be classified as obese compared to parents of children without disabilities and if obesity was associated with depressive symptoms or child behaviour characteristics. Using data from the Growing Up in Ireland National Longitudinal Study of Children (2006 to date), 627 parents of children with developmental disabilities were compared with 7941 parents of typically developing children on objectively measured levels of obesity (body mass index >= 30 kg/m(2)), depression, health behaviours, chronic health conditions, socio-demographic and child behavioural characteristics. Parents of children with disabilities were more likely to be classified as obese compared to control parents (24.5% vs. 19.6%, p = 0.005, Cramer's V; ACCEPTED; peer-reviewed

Parental caregivers of children with developmental disabilities mount a poor antibody response to pneumococcal vaccination.

Gallagher, Stephen; Phillips, Anna C; Drayson, Mark T; Carroll, Douglas
Fonte: Elsevier Publicador: Elsevier
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
ENG
Relevância na Pesquisa
66.56%
peer-reviewed; In older populations, caregiving for a spouse with dementia has been associated with a poor antibody response to vaccination. The present study examined whether younger caregivers, specifically the parents of children with developmental disabilities, would also show a diminished antibody response to vaccination. At baseline assessment, 30 parents of children with developmental disabilities and 29 parents of typically developing children completed standard measures of depression, perceived stress, social support, caregiver burden, and child problem behaviours. They also provided a blood sample and were then vaccinated with a pneumococcal polysaccharide vaccine. Further blood samples were taken at 1- and 6-month follow-ups. Caregivers mounted a poorer antibody response to vaccination than control parents at both follow-ups. This effect withstood adjustment for a number of possible confounders and appeared to be, at least in part, mediated by child problem behaviours. The negative impact of caregiving on antibody response to vaccination is not restricted to older spousal caregivers, but is also evident in younger parents caring for children with developmental disabilities. The behavioural characteristics of the care recipients may be a key consideration in whether or not immunity is compromised in this context.; ACCEPTED; peer-reviewed

Connecting the dots: A guide to finding services for people with disabilities in Delaware

Mann, Tracy L.; Phillips, Ann
Fonte: Center for Disabilities Studies Publicador: Center for Disabilities Studies
Tipo: Outros
EN_US
Relevância na Pesquisa
56.23%
The purpose of this booklet is to help anyone with a newly diagnosed disability to find supports and services. This guide is meant to help you identify the first steps to take to find the supports and services you and your family members may need.; This project was partially funded by the Administration on Developmental Disabilities of the Administration for Children and Families in the U.S. Department of Health and Human Services.

Healthy Delawareans with Disabilities: Health Status Report for Children with Disabilities and Special Health Care Needs

Riddle, Ilka K.
Fonte: Center for Disabilities Studies and Division of Developmental Disabilities Services Publicador: Center for Disabilities Studies and Division of Developmental Disabilities Services
EN_US
Relevância na Pesquisa
56.44%
Prepared for the Division of Developmental Disabilities Services, Delaware Health and Social Services.; This report presents information about the health status of children with disabilities and special health care needs in Delaware. Topics that are addressed in this report are their health, care needs, access to medical care and a medical home, and daily support variables such as schooling, friendships and safety.

Healthy Delawareans with Disabilities: Health Status Report for Adults with Disabilities

Riddle, Ilka K.
Fonte: Center for Disabilities Studies and Division of Developmental Disabilities Services Publicador: Center for Disabilities Studies and Division of Developmental Disabilities Services
EN_US
Relevância na Pesquisa
56.5%
Prepared for the Division of Developmental Disabilities Services, Delaware Health and Social Services.; This report presents information about the health, wellness, disabilities, secondary health conditions, and lifestyles of adults with disabilities in Delaware. Information from 339 adults with physical, sensory, cognitive and learning disabilities, and mental health conditions was collected from May to December 2006. The sample of participants was collected through service enrollment lists, referrals, and outreach to community organizations and provides insight into the well-being of adults with disabilities in Delaware.