scholarly journals Genetic testing of adults with intellectual disability

2012 ◽  
Vol 36 (11) ◽  
pp. 409-413 ◽  
Author(s):  
Jana de Villiers ◽  
Mary Porteous
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Learning Disability ◽  
Genetic Diagnosis ◽  
Disability Services ◽  
Clinical Implications ◽  
Clinical Genetics ◽  
Genetic Abnormality ◽  
Structured Interviews ◽  
Health Boards

MethodPatients known to learning disability services in two health boards in southeast Scotland were cross-matched with the patients tested at the Western General Hospital in Edinburgh. Those with a positive genetic diagnosis were identified. Semi-structured interviews were conducted with senior learning disability psychiatrists and clinical genetics consultants.ResultsOf the 3323 patients with intellectual disability across both health boards, 41% have had genetic tests and 6% have an identified genetic abnormality as the cause for their intellectual disability. Of the 1349 patients who have been tested, a genetic abnormality was found in 14%. Psychiatrists named several benefits to genetic testing, but they also highlighted a number of non-medical reasons for not testing adults with intellectual disability.Clinical implicationsIdentifying genetic aetiology in intellectual disability has a number of benefits. Our study would indicate that genetic diagnoses are being missed due to a lack of genetic testing in this patient group. Adult learning disability services need to consider increasing genetic testing.

scholarly journals The Mental Health Clustering Tool for people with severe intellectual disability

2012 ◽  
Vol 36 (12) ◽  
pp. 454-458 ◽  
Author(s):  
Vishwa Radhakrishnan ◽  
Kevin Smith ◽  
Jean O'Hara
Keyword(s):  
Mental Health ◽  
Intellectual Disability ◽  
Community Mental Health ◽  
Learning Disability ◽  
Rating Scales ◽  
Disability Services ◽  
Clinical Implications ◽  
Current Form ◽  
Severe Intellectual Disability ◽  
Integrated Mental Health

Aims and methodWe assessed 92% (117/127) of the patients in our community mental health learning disability team using the Mental Health Clustering Tool (MHCT) to establish whether their needs could be captured sufficiently well to enable assignment to a care cluster for payment by results in mental health. We explored the characteristics of those assigned to Cluster 0 to identify how they differed from those who could be assigned to Clusters 1-21.ResultsAs expected, nearly half of the case-load (48%) could not be assigned to any cluster except Cluster 0, the variance cluster, which is used when the needs of patients cannot be captured by the current 21 care clusters but a service is, or will be, provided.Clinical implicationsThe MHCT in its current form does not adequately capture the needs of people with more severe intellectual disability. An integrated mental health and learning disability clustering tool is in development. This is expected to include new rating scales and new clusters, however until the development is completed and validated it will not be possible to implement payment by results in mental health in learning disability services.

scholarly journals Service provision in Scotland for people with an intellectual disability who have, or are at risk of developing, dementia

Dementia ◽  
2018 ◽  
Vol 19 (3) ◽  
pp. 736-749 ◽  
Author(s):  
Karen McKenzie ◽  
Dale Metcalfe ◽  
Amanda Michie ◽  
George Murray
Keyword(s):  
At Risk ◽  
Intellectual Disability ◽  
Learning Disability ◽  
Service Provision ◽  
Disability Services ◽  
Health Board ◽  
Common Elements ◽  
Online Questionnaire ◽  
Community Learning ◽  
Direct Assessment

This research aimed to identify current national provision by health services in Scotland in relation to proactive screening and reactive assessment for people with an intellectual disability in Scotland who have, or are at risk of developing, dementia. Staff from 12 intellectual disability services, representing the 11 health board areas in Scotland, completed an online questionnaire which asked about proactive screening and reactive assessment for people with intellectual disability who had, or were at risk of developing, dementia as well as suggested areas for improvement. All of the areas provided services for people with intellectual disability who have, or are at risk of developing, dementia, but differed as to whether this was reactive, proactive or both. Nine services offered intervention following diagnosis. The most common elements used across both proactive screening and reactive assessment were conducting a health check, using a general dementia questionnaire designed for people with an intellectual disability and direct assessment with the person. Clinical psychology and community learning disability nurses were the professions most likely to be involved routinely in both proactive screening and reactive assessments. The psychometric properties of the most commonly used assessments of cognitive and behavioural functioning were mixed. The areas of improvement suggested by practitioners mainly related to ways of improving existing pathways. This research represents the first step in providing an overview of service provision in Scotland. There was some inconsistency in relation to the general and specific components which were involved in proactive screening and reactive assessment. Implications for service provision are discussed.

scholarly journals ‘I Waited for It until Forever’: Community Barriers to Accessing Intellectual Disability Services for Children and Their Families in Cape Town, South Africa

2020 ◽  
Vol 17 (22) ◽  
pp. 8504
Author(s):  
Siyabulela Mkabile ◽  
Leslie Swartz
Keyword(s):  
South Africa ◽  
Intellectual Disability ◽  
Cape Town ◽  
Disability Services ◽  
Structured Interviews ◽  
Middle Income ◽  
Middle Income Countries ◽  
Qualitative Research Design ◽  
Interview Guide ◽  
Children With Intellectual Disability

Background: Intellectual disability is more common in low- and middle-income countries than in high-income countries. Stigma and discrimination have contributed to barriers to people with intellectual disability accessing healthcare. As part of a larger study on caregiving of children with intellectual disability in urban Cape Town, South Africa, we interviewed a sub-group of families who had never used the intellectual disability services available to them, or who had stopped using them. Methods: We employed a qualitative research design and conducted semi-structured interviews to explore the views and perspectives of parents and caregivers of children with intellectual disability who are not using specialised hospital services. We developed an interview guide to help explore caregivers’ and parents’ views. Results: Results revealed that caregivers and parents of children with intellectual disability did not use the intellectual disability service due to financial difficulties, fragile care networks and opportunity costs, community stigma and lack of safety, lack of faith in services and powerlessness at effecting changes and self-stigmatisation. Conclusion: Current findings highlight a need for increased intervention at community level and collaboration with community-based projects to facilitate access to services, and engagement with broader issues of social exclusion.

scholarly journals Social and emotional characteristics of girls and young women with DDX3X-linked intellectual disability: A descriptive and comparative study

2021 ◽  
Author(s):  
Elise Ng-Cordell ◽  
Anna Kolesnik-Taylor ◽  
Sinead O'Brien ◽  
Duncan Astle ◽  
Gaia Scerif ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Research ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Social Responsiveness ◽  
Structured Interviews ◽  
Phenotypic Data ◽  
Quantitative Evidence ◽  
Social And Emotional ◽  
Wide Range

Background. DDX3X variants are a common cause of intellectual disability (ID) in females. Previous studies have reported high rates of autism spectrum disorder and emotional-behavioural difficulties within this group. However, no study has compared social and emotional characteristics in individuals with DDX3X variants to individuals with other monogenic causes of ID. Methods. Twenty-three females with pathogenic or likely pathogenic DDX3X variants were recruited via UK regional genetics centres, genetic research cohorts, and family support groups. Twenty-three females with ID and variants in other genes were recruited via the same routes. Phenotypic data were collected through semi-structured interviews and standardised questionnaires. Results. In line with previous research, we found a wide range of adaptive, social and emotional function within the DDX3X group. Autism characteristics assessed via the Social Responsiveness Scale (SRS) did not differ between DDX3X and comparison groups, while levels of anxiety and self-injurious behaviour (SIB) scores assessed via the Developmental Behaviour Checklist (DBC) were significantly higher in the DDX3X group. Autistic characteristics, anxiety and SIB scores were positively correlated within the DDX3X group. Individuals with DDX3X missense variants had poorer adaptive abilities than those with protein truncating variants as previously reported, but DDX3X variant type did not significantly predict emotional and behavioural characteristics. Conclusions. We provide quantitative evidence that overall incidence of autistic characteristics is not higher amongst girls and women with DDX3X variants than expected for ID. However, the DDX3X group demonstrates more SIBs and anxiety symptoms than expected, with close relationships between SIBs and anxiety, and between anxiety and autistic characteristics. Future work is warranted to explore the multilevel mechanisms contributing to social and emotional development in individuals with DDX3X variants, and consider whether these mechanisms are specific to this genetic diagnosis or shared with a subset of people with ID due to other causes.

scholarly journals Antidepressant use in adults with intellectual disability

2010 ◽  
Vol 34 (4) ◽  
pp. 123-126 ◽  
Author(s):  
Prem R. Rai ◽  
Mike Kerr
Keyword(s):  
Intellectual Disability ◽  
Side Effects ◽  
Clinical Outcome ◽  
Learning Disability ◽  
Clinical Improvement ◽  
Positive Outcome ◽  
Clinical Implications ◽  
Service Users ◽  
Antidepressant Use

Aims and methodTo study the use of antidepressants in adults with intellectual disability, focusing on medication type, indication, retention and clinical outcome. Case notes of all service users in a learning disability service were hand-searched to identify antidepressant usage, and those who had been treated with antidepressants and in whom at least 1 year of follow-up was possible were included in the study.ResultsA total of 241 treatment episodes were identified. The rates of positive outcome in terms of clinical improvement at 6 weeks, 6 months and 12 months were 49.4%, 48.1% and 49% respectively, and only 29 (12%) episodes of side-effects had been noted.Clinical implicationsAntidepressants are commonly prescribed in adults with intellectual disability. Approximately half did well in terms of clinical improvement.

scholarly journals A community survey establishing the prevalence rate of autistic disorder in adults with learning disability

2002 ◽  
Vol 26 (4) ◽  
pp. 127-130 ◽  
Author(s):  
C. N. Morgan ◽  
M. Roy ◽  
A. Nasr ◽  
P. Chance ◽  
M. Hand ◽  
...  
Keyword(s):  
Learning Disability ◽  
Autistic Disorder ◽  
Prevalence Rate ◽  
Developmental Disorder ◽  
Adult Population ◽  
Disability Services ◽  
Clinical Implications ◽  
Stage Process ◽  
Autistic Disorders ◽  
Population Rate

AIMS AND METHODMost studies into autistic disorder have concentrated on children. This study aims to establish a prevalence rate of autistic disorders in an adult population with learning disabilities. Adults accessing learning disability services were diagnosed as having an autistic disorder by a two-stage process. The first stage was screening using the Pervasive Developmental Disorder – Mental Retardation Scale and then those identified by screening were diagnosed clinically.RESULTSAn overall population rate of 7.7/10 000 for autistic disorder was obtained, which is a prevalence rate of 30% in those with learning disability. The prevalence rate was higher in intensive service settings.CLINICAL IMPLICATIONSSpecific funding and interventions need to be targeted for the treatment of autistic disorders.

scholarly journals De novo Variants in Neurodevelopmental Disorders with Epilepsy

2017 ◽  
Author(s):  
Henrike O. Heyne ◽  
Tarjinder Singh ◽  
Hannah Stamberger ◽  
Rami Abou Jamra ◽  
Hande Caglayan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Neurodevelopmental Disorders ◽  
Disease Gene ◽  
De Novo ◽  
Genetic Diagnosis ◽  
Disease Association ◽  
Joint Analysis ◽  
Limited Evidence ◽  
Significant Excess

AbstractEpilepsy is a frequent feature of neurodevelopmental disorders (NDD) but little is known about genetic differences between NDD with and without epilepsy. We analyzed de novo variants (DNV) in 6753 parent-offspring trios ascertained for different NDD. In the subset of 1942 individuals with NDD with epilepsy, we identified 33 genes with a significant excess of DNV, of which SNAP25 and GABRB2 had previously only limited evidence for disease association. Joint analysis of all individuals with NDD also implicated CACNA1E as a novel disease gene. Comparing NDD with and without epilepsy, we found missense DNV, DNV in specific genes, age of recruitment and severity of intellectual disability to be associated with epilepsy. We further demonstrate to what extent our results impact current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDD with epilepsy.

scholarly journals Use of the HoNOS–LD in identifying domains of change

2010 ◽  
Vol 34 (8) ◽  
pp. 322-326 ◽  
Author(s):  
Bradley Hillier ◽  
Lucy Wright ◽  
Andre Strydom ◽  
Angela Hassiotis
Keyword(s):  
Mental Health ◽  
Learning Disabilities ◽  
Learning Disability ◽  
Daily Living ◽  
Patient Admission ◽  
Disability Services ◽  
Patient Treatment ◽  
Clinical Implications ◽  
State Behaviour ◽  
Indicator Data

Aims and methodTo analyse clinical outcome indicator data from the Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS-LD) in adults with intellectual disability admitted to mental health wards during a 19-month period; and to identify clinically relevant domains of change associated with in-patient admission.ResultsSignificant improvements were found in mental state, behaviour and social functioning. Improvements were also found in cognition and activities of daily living.Clinical implicationsThe HoNOS-LD is a useful tool for measuring clinical outcomes in several relevant domains and guiding in-patient treatment in learning disability psychiatry. It may also provide a currency for payment-by-results and influence the commissioning of learning disability services.

scholarly journals Genetic diagnosis of intellectual disability and its ethical aspect

2018 ◽  
Vol 1 (34) ◽  
pp. 187
Author(s):  
Zofia Kępińska Walczak
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Genetic Diagnosis ◽  
Ethical Aspect ◽  
Human Being ◽  
Right To Life ◽  
Human Species ◽  
Wrongful Life ◽  
Moral Aspect ◽  
The Right

The article presents a reflection on the genetic diagnosis of intellectual disability. Attention was drawn to the moral aspect of genetic testing and it was emphasized that genetic diagnosis must not become an instrument in the implementation of bio-utilitarianism or the concept of wrongful life, according to which, whether a person can be considered a human being, and thus have the right to life, depends on certain factors, and is not self-evident by the very fact of belonging to the human species.

scholarly journals ‘I Waited for It Until Forever’: Community Barriers to Accessing Intellectual Disability Services for Children and Their Families in Cape Town, South Africa

2020 ◽  
Author(s):  
Siyabulela Mkabile ◽  
Leslie Swartz
Keyword(s):  
South Africa ◽  
Intellectual Disability ◽  
Cape Town ◽  
Disability Services ◽  
Structured Interviews ◽  
Middle Income ◽  
Middle Income Countries ◽  
Qualitative Research Design ◽  
Interview Guide ◽  
Children With Intellectual Disability

1) Background: Intellectual disability is more common in low- and middle-income countries than in high-income countries. Stigma and discrimination have contributed to barriers to people with intellectual disability accessing healthcare. As part of a larger study on caregiving of children with intellectual disability in urban Cape Town, South Africa, we interviewed a sub-group of families who had never used the intellectual disability services available to them, or who had stopped using them; 2) Methods: We employed a qualitative research design and conducted semi-structured interviews to explore the views and perspectives of parents and caregivers of children with intellectual disability who are not using specialised hospital services. We developed an interview guide to help explore caregivers’ and parents’ views; 3) Results: Results revealed that caregivers and parents of children with intellectual disability did not use the service due to financial difficulties, fragile care networks and opportunity costs, community stigma and lack of safety, lack of faith in services and powerlessness at effecting changes, and self-stigmatisation; 4) Conclusion: Current findings highlight a need for increased intervention at community level and collaboration with community-based projects to facilitate access to services, and engagement with broader issues of social exclusion.

Sign in / Sign up

Export Citation Format

Share Document