Understanding intellectual disability through RASopathies

Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies.Fil: San Martín, Alvaro. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Fisiología y Biofísica Bernardo Houssay. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Fisiología y Biofísica Bernardo Houssay; ArgentinaFil: Pagani, Mario Rafael. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Fisiología y Biofísica Bernardo Houssay. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Fisiología y Biofísica Bernardo Houssay; Argentin

FAKTOR – FAKTOR YANG MEMPENGARUHI TINGKAT PENGETAHUAN ORANG TUA MENGENAI KELAINAN GENETIK PENYEBAB DISABILITAS INTELEKTUAL DI KOTA SEMARANG

Background: Disability intellectual (DI) caused by several factors. Parents are highly plays an important. The knowledge parents about a disability intellectual influenced by several factors, that is age, sex, education level, level of income, exposure to get information, consultation to doctor, and socio-cultural. Methods: The research is analytic observational with design cross sectional, samples all parents patients. Research in SLB-C Widya Bhakti Semarang, purpose to know anything influences the level of knowledge parents about intellectual disability cause. Total sampel is 50. The tested data using chi square. Results: The level knowledge to DI in Semarang is good (48 %). The consultation to the doctor ( p = 0,056 ) having influence on the knowledge parents about a genetic disorder caused disability intellectual. While the age ( p = 0,144 ), the level of education ( p = 0,575 ), income levels ( p = 0,976 ), exposure to information ( p = 0,266 ), and social-culture the religion ( p=0, 606 ) and jobs ( p = 0,379 ) no have influence. The conclusion: The consultation to doctor having influence on the knowledge parents about abnormality a genetic disorder caused disability intellectual. While the age, levels of education, level level income and exposure information have no influence meaningful on the knowledge parents about a genetic disorder cause disability intellectual. Key word: Disability intlektual, a genetic disorder, the level knowledge, education, income, exposure to information, consultation doctor, social and cultura

Mental Illness and Intellectual Disability

[Excerpt] Both, people with intellectual disability and people with mental illness, suffer from prejudices, negative attitudes, degrading treatment, abuse and discrimination in society. They are often discriminated against by employers, social and health services, or housing societies and in the access to goods or to financial services. They experience painful emotions, being out of control, or loosing all they have

The Situation of People wit Complex Dependency Needs in Europe

[Excerpt] Since several years, Inclusion Europe and its member societies have put an accent on self-advocacy of persons with intellectual disability. For too long parents and professionals saw persons with intellectual disability only from the angle of their disability. We have spoken for them, decided what was good for them and have sometimes forgotten that they are full citizens with own desires. Self-advocates now claim the right to talk, to be listened to and to decide their own future

The changing of the guard: groupwork with people who have intellectual disabilities

This paper considers the impact of service systems on group activities. It describes an inter-professional groupwork project facilitated by a social worker and a community nurse. The project provided an emancipatory experience for a group of adults who had intellectual disabilities. The group was charged with the task of reviewing and updating the recruitment and interview processes used by a 'Learning Disability Partnership Board', when employing new support workers. The paper begins with a brief history of intellectual disability and provides a context to the underpinning philosophical belief that people should be encouraged and supported to inhabit valued social roles no matter what disability they may have. It then identifies the ways in which the sponsoring health, education and social care services impacted on the creation and development of a groupwork project. It might have been expected that the nature of the intellectual disability would have been the major influence on group process. However the paper reveals that organisational constraints had a significant impact on group functioning. Issues including, staffing budgets and transport contracts impacted on group process and function. The results of the project show how, with adequate support, people with intellectual disability can make important decisions that have long-reaching impacts on the services

The impact of training on teacher knowledge about children with an intellectual disability

The present study examines the impact of a short training session on the knowledge of teaching staff in Scotland about children with an intellectual disability. Despite the majority of participants reporting that they had a child with an intellectual disability in their classroom, the initial level of knowledge concerning intellectual disability was low. This was partly considered to be due to terminology differences that exist between the health and education sectors and a lack of training specific to the needs of children with an intellectual disability. Training was shown to significantly improve the basic knowledge needed to understand intellectual disability immediately after training and at a 1 month follow-up, suggesting that the knowledge gains would be sustained in the longer term

Screening for Intellectual Disability in Children: A Review of the Literature

BACKGROUND: Early identification of possible intellectual disability can help children and families access appropriate services and support more quickly. There has been an increasing interest in the use of screening tools for this purpose. This study reviews the literature in relation to such tools. METHODS: A literature search was carried out for English language articles from 1990 to 2009 using a range of databases. Secondary searches were carried out from references of relevant articles. RESULTS: Only one article was identified which examined the ability of an assessment to specifically identify children with a potential intellectual disability; however, no information was provided about sensitivity, specificity or cut-off points. CONCLUSIONS: There is not, as yet, a screening tool that can reliably identify children with a probable intellectual disability. Further research in this area is needed

Deprivation, ethnicity and the prevalence of intellectual and developmental disabilities

Background Social gradients and ethnic disparities have been reported in some forms of intellectual and developmental disabilities. However, information on the association between area deprivation, ethnicity and other forms of intellectual and developmental disabilities are inconclusive. Aim To estimate the independent association between household disadvantage, local area deprivation, ethnicity and the identification of intellectual and developmental disability. Methods Cross-sectional survey involving multilevel multivariate analyses of data extracted from educational records on household disadvantage, local area deprivation, ethnicity and identified intellectual and developmental disability in a sample of English children aged 7–15 years (n=5.18 million). Results Lower household socio-economic position was associated with increased rates of identification of intellectual and developmental disabilities especially less severe forms of intellectual disability. Higher area deprivation was independently associated with increased rates of identification of less severe forms of intellectual disability but decreased rates of identification of profound multiple intellectual disability and autism spectrum disorder. Minority ethnic status was, in general, associated with lower rates of identification of intellectual and developmental disabilities. Exceptions to this general pattern included higher rates of identification of less severe forms of intellectual disability among Gypsy/Romany and Traveller children of Irish heritage, and higher rates of identification of more severe forms of intellectual disability among children of Pakistani and Bangladeshi heritage. Conclusions Children whose development is already compromised (and especially children with less severe intellectual disabilities) are at increased risk of exposure to social conditions that are themselves inimical to healthy development

“Why can’t they be in the community?” A policy and practice analysis of transforming care for offenders with intellectual disability

Purpose – The purpose of this paper is to describe key policy and practice issues regarding a significant subgroup of people with intellectual disability – those with offending behaviour being treated in forensic hospitals. Design/methodology/approach – The reasons why psychiatrists continue to be involved in the treatment of people with intellectual disability and mental health or behavioural problems and the factors that may lead to patients needing hospital admission are examined. Using two illustrative examples, three key questions – containment vs treatment, hospital care vs conditional discharge and hospital treatment vs using deprivation of liberty safeguards usage in the community are explored. Findings – Patients with intellectual disability, mental health problems and offending behaviours who are treated within forensic inpatient units tend to have long lengths of stay. The key variable that mediates this length of stay is the risk that they pose to themselves or others. Clinicians work within the framework of mental health law and have to be mindful that pragmatic solutions to hasten discharge into the community may not fall within the law. Originality/value – This paper makes practical suggestions for the future on how to best integrate hospital and community care for people with intellectual disability, mental health and offending behaviours. </jats:sec