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SCHOFIELD, HILARY, BARBARA MURPHY, HELEN E. HERRMAN, SIDNEY BLOCH, and BRUCE S. SINGH. "Carers of people aged over 50 with physical impairment, memory loss and dementia: a comparative study." Ageing and Society 18, no. 3 (May 1998): 355–69. http://dx.doi.org/10.1017/s0144686x98006965.
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While studies investigating factors associated with carer burden suggest that intellectual impairment and behavioural disturbance in the care recipient are more demanding for the carer than physical impairment, comparative research findings are equivocal. Family carers of people with a long-term illness or disability were identified through a survey of 26,000 households in Victoria, Australia. Focusing on carers of those aged over 50 years, three subsamples were selected: 186 carers of relatives with physical impairment only, 182 carers of those with diagnosed memory loss and 117 carers of those with intellectual impairment diagnosed as dementia. Carers of physically impaired relatives reported better health, greater life satisfaction, and less overload, negative affect, family conflict, anger and resentment than carers of those with intellectual impairment, whether labelled as dementia or not. Despite lower impairment levels in the care recipient, carers of those with undiagnosed memory loss reported more resentment about their caring role than carers of those with a diagnosed dementia. The effects on the carer of significantly greater impairment in the dementia care recipient group may be ameliorated by having a diagnosis, bringing with it the potential for increased understanding and tolerance. Fortunately, negative feelings predictive of a sense of burden are subject to a range of interventions: providing information to promote understanding; counselling to tackle negative feelings and family conflict; guidelines to deal with behaviour problems and physical aspects of caring; and community services to reduce overload.
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Conrad, Jordan A. "On intellectual and developmental disabilities in the United States: A historical perspective." Journal of Intellectual Disabilities 24, no. 1 (April 5, 2018): 85–101. http://dx.doi.org/10.1177/1744629518767001.
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The history of intellectual and developmental disabilities (IDD) in the United States is, in many ways, a triumphant story reflecting an increasingly progressive attitude acknowledging the equality of all persons. The law now recognizes people with IDD as citizens, possessing an equal right to education, health care, and employment—each of which represents milestone victories. However, this progression was not a linear development but rather a product of periods of growth and decline, backsliding, and hard-won battles across political, cultural, and legal domains. This article explores the vacillating historical trajectory for people with IDD in the United States from the colonial period to the present. Particular attention is paid to the conceptual understanding of disability itself across time periods as that which informs particular developments in treatment, law, and social status. The capabilities approach, as outlined by Martha Nussbaum, is then brought to bear as a heuristic framework, consonant with current developments in disability studies, and which may guide future social and legislative action.
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Carrillo de Albornoz Calahorro, C. M., M. Guerrero Jiménez, A. Porras Segovia, and J. Cervilla Ballesteros. "Intellectual disability among delusional disorder: A case series register." European Psychiatry 33, S1 (March 2016): S192. http://dx.doi.org/10.1016/j.eurpsy.2016.01.434.
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IntroductionThe quoted prevalence of intellectual disability (ID) among adults with psychiatric illness varies widely. Some believe that these people are protected from certain intellectual and psychological stress by having ID, and therefore, are less prone to develop psychiatric illness. However, in the past decades, the more prevailing view is that people with ID are more vulnerable to psychosocial stress than people without ID, and therefore, are more likely to develop psychiatric symptomatology. According to various population surveys the probability of suffering a mental disability increase with age. Delusional disorder is as well a disease related to advanced stages of life.Objectives/aimsThe aims of the present study is to establish the prevalence of functional intellectual disability among adults who fulfil DSM 5 delusional disorder criteria.MethodsOur data come from a case register study of delusional disorder in Andalucia (Spanish largest region). By accessing digital health data, we selected 1927 cases, which meet criteria DSM 5 for delusional disorder collecting whether in its history intellectual disability was registered by the referent psychiatrist.ResultsOf our sample, 2.6% had reflected some kind of intellectual disability in their digital clinical record.ConclusionThese percentage has been found to concur with other epidemiological studies linking mental retardation and psychotic spectrum disease although there are no epidemiological data published to the best of our knowledge that correlate delusional disorder specifically and intellectual disability.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Himmerich, Julian. "Psychodynamic psychotherapy in severe and profound intellectual disability." Advances in Mental Health and Intellectual Disabilities 14, no. 3 (April 1, 2020): 45–60. http://dx.doi.org/10.1108/amhid-11-2019-0037.
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Purpose Psychodynamic psychotherapy is increasingly adapted and used with individuals with intellectual disability (ID) and mental health difficulties. However, the evidence base is still small and largely based on case studies and small trials whose participants mainly have mild to moderate ID. This paper aims to review and critique the literature in regards to the adaptations; and the effectiveness of psychodynamic psychotherapy for those with severe and profound ID. Design/methodology/approach A systematic literature search of PsycINFO, Social Policy and Practice, Medline, Cumulative Index to nursing and allied health literature and applied social sciences index and abstracts was conducted. Six studies met inclusion criteria and underwent a quality evaluation and critical review. Findings Six papers (all case studies) met inclusion criteria and underwent a quality evaluation and critical review. Some adaptations to therapy were reported, such as a more flexible therapeutic frame and increased use of the physical environment as a therapeutic tool. Due to significant methodological weaknesses of the included studies, it is yet unclear whether psychodynamic psychotherapy is an effective intervention for individuals with severe and profound ID. Research limitations/implications Only a small number of case studies met the inclusion criteria. Further research should use more robust outcome measures, larger samples and compare psychodynamic psychotherapy to alternative interventions. Originality/value This paper is the first to review the psychodynamic psychotherapy literature with regard to its effectiveness as a treatment specifically for individuals with severe and profound ID and mental health difficulties.
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MacMahon, Kenneth, and Ricky McClements. "Working together: making the case for integrated forensic services for people with intellectual disabilities." Journal of Intellectual Disabilities and Offending Behaviour 6, no. 3/4 (December 14, 2015): 204–10. http://dx.doi.org/10.1108/jidob-08-2015-0021.
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Purpose – There is a general consensus that healthcare for people with intellectual disabilities should be provided by multi-disciplinary teams. Within a forensic setting, recommendations are often made for separate or “parallel” forensic teams, operating independently of generic mental health or intellectual disability teams. An alternative to this model is an “integrated” service, where specialist forensic clinicians work within the general intellectual disability service, to provide support for clients with forensic needs. For clients with intellectual disabilities and forensic needs, there may be advantages to providing access to a wider multi-disciplinary team, through the application of an integrated model. The purpose of this paper is to illustrate the working of an integrated forensic service within a learning disability team, to identify positive aspects of this model, and how potential shortcomings may be overcome. Design/methodology/approach – Literature review, description of service outline with case example. Findings – Although some studies have compared parallel and integrated forensic models within mental health services, there are no evaluations that compare models of forensic services for individuals with intellectual disabilities. However, specific advantages of an integrated model may include availability of multi-disciplinary clinicians, development of forensic skills across wider groups of clinicians, reduction in stigma and avoidance of delay in transfer of care between services. In addition, in areas with smaller populations, parallel services may not be feasible due to low case numbers. Originality/value – There has been no formal evaluation of parallel vs integrated forensic services within an intellectual disability setting. However, the authors describe a fully integrated service and suggest means by which the potential shortcomings of an integrated model may be overcome.
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McInnis, Erica Elaine. "Effectiveness of individual psychodynamic psychotherapy in disability psychotherapy." Advances in Mental Health and Intellectual Disabilities 10, no. 2 (March 7, 2016): 128–44. http://dx.doi.org/10.1108/amhid-09-2015-0047.
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Purpose – The purpose of this paper is to report effectiveness of disability psychotherapy with a male adult with a mild intellectual disability presenting with complex emotional and behavioural problems. Design/methodology/approach – An individual case study was used with repeated analytic, quantitative and qualitative measures. This reported progress from individual weekly disability psychotherapy of psychodynamic orientation within an emotional disability framework. Findings – Disability psychotherapy led to a reduction in emotional and behavioural problems, reduction in emotional disability and facilitated protective psychological growth. In total, 88 sessions resulted in cessation of problem behaviours when other approaches did not. Given this therapy is likely to be reserved for the most complex and severe of cases, this study suggests more sessions of psychotherapy are needed than inferred from previous studies of effectiveness (Beail et al., 2007). This is to promote a sense of self which facilitates psychological well-being. Research limitations/implications – Limitations of a single case study include generalisability, controlling other factors in real life settings and subjectivity from inclusion of analytical measures. Further studies and follow-up would determine longevity of benefits. Nevertheless disability psychotherapy can be effective and should be available in a culturally appropriate service to meet the diverse needs of people with intellectual disabilities. Originality/value – This case study adds to the limited body of evidence on effectiveness of psychotherapy for people with intellectual disabilities. It is novel to report formal outcomes from an emotional disability model (Frankish, 2013a) and the use of analytic and attachment outcome measures.
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Alsahlawi, Zahra, Mohamed Jailani, Husain Alaradi, and Abdulaziz AlAbbad. "A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation." Case Reports in Pediatrics 2020 (October 16, 2020): 1–6. http://dx.doi.org/10.1155/2020/8820966.
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DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies.
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Rice, James Gordon, Helga Baldvins Bjargardóttir, and Hanna Björg Sigurjónsdóttir. "Child Protection, Disability and Obstetric Violence: Three Case Studies from Iceland." International Journal of Environmental Research and Public Health 18, no. 1 (December 28, 2020): 158. http://dx.doi.org/10.3390/ijerph18010158.
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This contribution is a collective re-analysis of three research projects in Iceland focused on parenting with a disability which draws upon data spanning a twenty-year period. The core purpose of these projects is to understand why parents with primarily intellectual disabilities encounter such difficulties with the child protection system. Our aim with this contribution is to identify, through a longitudinal and comparative framework, why these difficulties persist despite a changing disability rights environment. A case study methodology has been employed highlighting three cases, one from each research project, which focus narrowly on disabled parents’ struggles with the child protection system in the context of the maternity ward. The findings, framed in the concept of structural violence, indicate poor working practices on the part of healthcare and child protection, a lack of trust, and that context is still ignored in favour of disability as the explanatory framework for the perceived inadequacies of the parents. We contend that child protection authorities continue to remain out of step with developments in disability and human rights. The contribution concludes to make a case as to why the concept of obstetric violence is a useful framework for criticism and advocacy work in this area.
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Song, Kyeong-Jin, Juengeun Lee, and Ji-Young Son. "Case Studies and Interviews to Review Public Library Services for People with Intellectual Disability." Journal of the Korean Society for Library and Information Science 47, no. 1 (February 28, 2013): 197–219. http://dx.doi.org/10.4275/kslis.2013.47.1.197.
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Buckley, Nicholas, Emma J. Glasson, Wai Chen, Amy Epstein, Helen Leonard, Rachel Skoss, Peter Jacoby, et al. "Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis." Australian & New Zealand Journal of Psychiatry 54, no. 10 (May 30, 2020): 970–84. http://dx.doi.org/10.1177/0004867420924101.
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Background: Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps. Method: MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis. Results: A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3–21%) and anxiety disorders (7–34%) were the most prevalent conditions. Conclusion: This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management.
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Davis, Julian P., Fiona K. Judd, and Helen Herrman. "Depression in Adults with Intellectual Disability. Part 1: A Review." Australian & New Zealand Journal of Psychiatry 31, no. 2 (April 1997): 232–42. http://dx.doi.org/10.3109/00048679709073826.
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Objective: To examine the available literature regarding prevalence, clinical features and treatment of depression in adults with intellectual disability (ID). Method: A review of standard texts of ID and available literature examining psychiatric problems of individuals with ID. Results: Few methodologically sound studies of prevalence have been reported. The clinical features of depression in adults with ID appear to vary with level of disability; in those with higher levels of disability in particular, irritability and anger, self-injurious and aggressive behaviour, psychomotor change and loss of activities of daily living skills may be observed rather than ‘classic’ depressive symptoms. No systematic treatment studies have been reported; case reports support the efficacy of cognitive and behavioural strategies, antidepressants and electroconvulsive therapy. Conclusions: Well designed studies to assess the prevalence and evaluate the treatment of depression in individuals with ID are urgently needed. Design of these studies will need to address the questions of reliability and validity of diagnosis in individuals with ID and examine the appropriateness of available diagnostic criteria.
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Souza, Fabiola Ribeiro de, Fabiola Ribeiro de Souza, and Silviane Bonaccorsi Barbato. "Compensation of Intellectual Disability in a Relational Dialogue on Down Syndrome." Outlines. Critical Practice Studies 21, no. 1 (April 23, 2020): 49–68. http://dx.doi.org/10.7146/ocps.v21i1.111267.
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The historical-cultural theory of Intellectual Disability (DI) overcompensation/compensation is referenced in several studies, but little empirical evidence is presented to corroborate this thesis. In this work, 13 current studies were analysed about the behavioural profile of people with Down syndrome (DS), a case of neurobiological ID, published in the last 15 years, in order to verify the possibility of dialogue with the theorizing about compensation. Despite contributing to an up to date understanding of DS, the results point to similarities between different scientific traditions allowing discussions regarding methodologies, data interpretation, language comprehension, and the impact of the studies for school inclusion and the development of people with ID/DS. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed to the affective motivators/emotions of the person with ID/DS by means of more interpretative methodologies.
Keywords: Down syndrome, compensation, behavioural profile, Intellectual Disabilities Development
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Maich, Kimberly, Steve Sider, Jhonel Morvan, and Déirdre Smith. "Making the Unknown or Invisible Accessible: The Collaborative Development of Inclusion-Focused Open-Access Case Studies for Principals and Other School Leaders." Exceptionality Education International 30, no. 2 (September 1, 2020): 68–79. http://dx.doi.org/10.5206/eei.v30i2.11082.
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Gaps between research and practice exist in the field of inclusive and special education, especially around school-based leadership (e.g., principals). Research-based case studies are a way to teach and learn about disability, especially stigmatized issues such invisible disability (e.g,. intellectual disability), which may be complex with multiple stakeholders, yet difficult to access. This article reviews the collaborative process of developing and disseminating authentic case studies built on lived experiences of school principals as an example of bridging the gap between research and practice with multiple, engaging knowledge mobilization activities. Future knowledge mobilization activities, such as the development of interactive, online case-based based learning around inclusive classrooms and schools, are discussed.
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Kroese, Biza Stenfert, and Gail Thomas. "Treating Chronic Nightmares of Sexual Assault Survivors with an Intellectual Disability - Two Descriptive Case Studies." Journal of Applied Research in Intellectual Disabilities 19, no. 1 (March 2006): 75–80. http://dx.doi.org/10.1111/j.1468-3148.2005.00275.x.
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Al-Abdullah, Zainab, Faisal A. Nawaz, Hawk M. Kair, and Meshal A. Sultan. "Obsessive-Compulsive Symptoms in an Adolescent with Intellectual Disability." Case Reports in Psychiatry 2022 (March 22, 2022): 1–5. http://dx.doi.org/10.1155/2022/4943485.
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Individuals with intellectual disability (ID) experience various psychiatric comorbidities including anxiety, depression, and obsessive-compulsive disorder (OCD) in a rate that is equivalent or higher than individuals without ID. Unfortunately, these cooccurring conditions are often missed during the evaluations due to various reasons, including their atypical presentation. In this case report, we present the clinical symptoms of an adolescent with mild ID who presented with irritability and was diagnosed with OCD following a comprehensive assessment. The treatment course is also summarized as well as the positive outcome to selective serotonin reuptake inhibitor (SSRI) medication. In this report, we discuss potential factors that increase the rate of psychiatric comorbidities including OCD in individuals with ID. Furthermore, in the context of limited research in this area, we recommend additional studies in order to build a detailed understanding of the clinical presentation of psychiatric cooccurring disorders in individuals with ID with the goal of enhancing assessment tools in the future.
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Aarthy, C. S., and P. D. Madan Kumar. "Prevalence of developmental defects of enamel among children with intellectual disability – A systematic review." Journal of Global Oral Health 3 (June 23, 2020): 49–53. http://dx.doi.org/10.25259/jgoh_3_2020.
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The purpose of this review was formulated with an aim to understand the prevalence of enamel defects among ID children. An identical search was performed in PubMed, Google scholar, and Cochrane review and was limited to human studies and studies written in English. Reviews, case studies, and case series were excluded from the study. A total of 56 articles were identified. In PubMed 18 articles, Google scholar 29 articles and Cochrane review nine articles were found, respectively. In this, two studies (n = 2), dealt with the developmental defects of enamel with intellectual disability (ID)/mental retardation. This systematic review suggests that developmental defects of enamel was more common in ID children than normal children. A larger number of well designed studies are, however, needed to increase the validity of the studies.
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Azevedo, F., R. André, I. Donas-Boto, D. Jeremias, and C. Almeida. "Electroconvulsive therapy for Patients with Intellectual Disability. When and how?" European Psychiatry 65, S1 (June 2022): S740—S741. http://dx.doi.org/10.1192/j.eurpsy.2022.1913.
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Introduction Intelectual disability is an illness with an important burden on patients and caregivers, especially when severe and when comorbidities such as other psychiatric disorders are present. There are case reports of treatment resistant self-aggression, agitation, epilepsy, catatonia and psychosis successfully treated with electroconvulsive therapy although controlled studies were not found. Objectives This work reviewed the current evidence for the use of electroconvulsive therapy in the management of patients with intellectual disability as well as its ethical and methodological implications. Methods Non-systematic review of the literature with selection of scientific articles published in the past 20 years; by searching Pubmed and Medscape databases using the combination of MeSH descriptors. The following MeSH terms were used: “electroconvulsive therapy”, “intellectual disability”. Results Patients with intellectual disability can have incapacitating comorbilities that greatly impair quality of life, and may require withdrawl from the community Treatment often differs from the general population as psychotropic medication can worsen other comorbilities. Electroconvulsive therapy can be a relevant treatment option for comorbidities in this population due to its safety profile. Ethical considerations should be taken into account, especially with non-verbal patients or when adequate representatives have not been chosen or cannot be reached. Different legal challenges may be present on different countries. Conclusions Electroconvulsive therapy and intellectual disability share the burdens of heavy stigma and low investment. Intellectual disability and it’s commorbidites present both a diagnostic and treatment challenge. Electroconvulsive therapy is an important weapon capable of restoring patients to their families and diminishing the burdens of caregivers and healthcare systems Disclosure No significant relationships.
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Noel, Jason. "Recognition and treatment of mood dysregulation in adults with intellectual disability." Mental Health Clinician 8, no. 6 (November 1, 2018): 264–74. http://dx.doi.org/10.9740/mhc.2018.11.264.
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Abstract Mood dysregulation is a common feature in the psychopathology of people with intellectual disability (ID) and co-occurring behavioral/psychiatric disorders. It can present with a host of dangerous behaviors, including aggression, self-injury, and property damage. There are special techniques that are used to assess these behaviors in people with ID, that can eventually inform an appropriate approach to pharmacologic and nonpharmacologic treatment. Two case studies are presented that illustrate the elements in the assessment and treatment of mood dysregulation in ID.
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Shelton, Alexandra, Jade Wexler, Rebecca D. Silverman, and Laura M. Stapleton. "A Synthesis of Reading Comprehension Interventions for Persons With Mild Intellectual Disability." Review of Educational Research 89, no. 4 (June 20, 2019): 612–51. http://dx.doi.org/10.3102/0034654319857041.
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The inclusion of individuals with intellectual disability (ID) in typical settings is increasing. To promote success in these settings, educators must support the reading comprehension of individuals with ID. Therefore, we conducted a synthesis of the extant research on reading comprehension interventions for individuals in the largest category of ID—mild ID—in Grades 4 through 12 and postsecondary programs. We review the methodological and intervention features of eight group-design studies and six single-case design studies published between January 2001 and December 2018. Findings from the 14 studies revealed inconsistent effects of single-component and multicomponent interventions on expository and narrative reading comprehension. However, medium to large positive effects were typically found from interventions using peer-mediated instruction and explicit strategy instruction. More rigorous research investigating the effects of reading comprehension interventions for individuals with mild ID using standardized measures is warranted. Practical implications and recommendations for future research are discussed.
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Collins, Jessica, Neel Halder, and Nasim Chaudhry. "Use of ECT in patients with an intellectual disability: review." Psychiatrist 36, no. 2 (February 2012): 55–60. http://dx.doi.org/10.1192/pb.bp.110.033811.
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Aims and methodThe literature on the use of electroconvulsive therapy (ECT) in patients with an intellectual disability is scarce, despite a higher prevalence of psychiatric disorders than in the general adult population. We carried out a review of articles published before March 2010. All age ranges, severity of disability and diagnoses were included.ResultsWe found 72 case reports, a retrospective chart review study and other reviews, but no controlled studies. Most patients (79%) showed a positive outcome following ECT. Complications were seen only in 13% and there were no reports of cognitive decline. Many patients relapsed following ECT (32%) and the majority were maintained with medication at follow-up (71%).Clinical implicationsElectroconvulsive therapy is a valuable treatment for this patient group and should be considered earlier as opposed to as a last resort. Obstacles to its use include diagnostic difficulties, ethical and legal issues, a lack of objective measurements and uncertainty about its safety in this population.
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McCarron, Mary, Darren McCausland, Eimear McGlinchey, Sarah Bowman, Michael Foley, Margaret Haigh, Eilish Burke, and Philip McCallion. "Recruitment and retention in longitudinal studies of people with intellectual disability: A case study of the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA)." Research in Developmental Disabilities 124 (May 2022): 104197. http://dx.doi.org/10.1016/j.ridd.2022.104197.
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Siano, Maria Anna, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, and Carmelo Piscopo. "De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review." Pediatric Reports 14, no. 1 (March 11, 2022): 131–39. http://dx.doi.org/10.3390/pediatric14010019.
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Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder.
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Moyà-Köhler, Joan, and Miquel Domènech. "Challenging “The Hands of Technology”: An Analysis of Independent Living for People with Intellectual Disabilities." International Journal of Environmental Research and Public Health 19, no. 3 (February 2, 2022): 1701. http://dx.doi.org/10.3390/ijerph19031701.
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Technology has been holding out the promise of facilitating greater autonomy and improving care for people in a situation of dependency. This trend is expected to grow and this is happening precisely at a time of expansion of the so-called Independent Living paradigm. In this context, however, disability activists are generally suspicious of approaches based on being “left” in the hands of technology. They instead advocate for “subordinating hands” to their ability to decide, a principle that stands in tension with the field of intellectual disability, where individuals are perceived as intrinsically unable to make “good decisions”. Therefore, the aim of this paper is to provide insight into the uses and developments of technologies with regard to care and autonomy for people with intellectual disabilities. By ethnographically examining the case of a specific technology; QR (quick response) codes in the context of an independent living service, and in the framework of Science and Technology Studies and Disability Studies, the paper reveals the role and possibilities of care and autonomy technologies for people with intellectual disabilities. Based on these findings, and by thinking from what we could define as “within a sociotechnical assemblage”, this paper aims to rethink the ways in which technologies for independent living can be used in the field.
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Cleary, Eimear, Philip McCallion, and Mary McCarron. "Dual sensory impairment among a cohort of older adults living in Ireland: A nested case-control study of the Irish Longitudinal Study on Ageing cohort." HRB Open Research 1 (December 16, 2018): 27. http://dx.doi.org/10.12688/hrbopenres.12861.1.
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Background: Little information is available on the implications of hearing loss, visual impairment and dual sensory impairment among older adults with an intellectual disability (ID) living in Ireland and this paper aims to address the health concerns associated with sensory impairment among this population. Methods: A representative sample of 753 persons aged 40 years and older at all levels of ID and full range of residential circumstances from the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA) participants were matched with general older population TILDA participants on age, sex and geographic location within Ireland. Demographic data on samples included age, sex, visual impairment (yes/no), hearing impairment (yes/no) and dual sensory impairment (yes/no). For those with intellectual disability (ID) data was also gathered on level of intellectual disability, residence, needing assistance with activities of daily living (ADL) and instrumental activities of daily living, self-rated health, loneliness, doctor’s diagnosis of endocrine disease and of dementia and doctor’s report of two or more chronic health conditions. Bivariate analysis of associations between visual, hearing and dual sensory impairment with the measures of physical and mental health was completed and logistic regression analysis to generate adjusted odds ratios for associations between sensory impairment and physical and mental health conditions. Results: As compared to the matched general population participants, in participants with ID dual sensory impairment was more often associated with poor self-rated health, limitations with two or more ADLs, loneliness and multimorbidity. People with ID were 4.4 times more likely to be multimorbid if they were visually impaired compared with an odds ratio of 2.4 in TILDA participants. Conclusion: Previous studies found significant associations between hearing and visual impairment among older populations. Analysis here also suggests the burden of sensory impairment increases both with ID and then with level of ID
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R. Lindsay, William, Kerry Joanne Smith, Samantha Tinsley, Jane Macer, and Sandra Miller. "A programme for alcohol related violence with offenders with intellectual disability." Journal of Intellectual Disabilities and Offending Behaviour 5, no. 2 (June 3, 2014): 107–19. http://dx.doi.org/10.1108/jidob-10-2013-0024.
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Purpose – Although studies suggest alcohol abuse is not the major problem among offenders and others with intellectual disabilities (ID), it is still a significant problem. There are also suggestions that alcohol may have a more serious effect on those with ID. The purpose of this paper is to describe a treatment for alcohol-related difficulties designed for people with ID. Design/methodology/approach – A programme for alcohol-related problems is described and four case studies are presented to illustrate the sessions and review the way in which people with ID have responded to the methods. The cases have a mixture of alcohol-related problems including anger, anxiety, social withdrawal and depression. The alcohol programme is coordinated with a range of person centred interventions for specific difficulties. Findings – All cases responded to the programme positively. Two cases showed reductions in anger, two reported reductions in anxiety and one reported reductions in depression. All cases increased their alcohol knowledge considerably. Research limitations/implications – The programme seems promising in its approach to alcohol-related difficulties. It is noted that alcohol education alone is likely to improve participants’ wellbeing in the absence of coordinated intervention for other relevant personal difficulties. A controlled treatment trial for effectiveness is clearly required. Originality/value – The paper describes a programme for alcohol-related problems and may be the first such programme that has contained pilot evaluation.
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Tremain, Shelley. "Educating Jouy." Hypatia 28, no. 4 (2013): 801–17. http://dx.doi.org/10.1111/hypa.12037.
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The feminist charge that Michel Foucault's work in general and his history of sexuality in particular are masculinist, sexist, and reflect male biases vexes feminist philosophers of disability who believe his claims about (for instance) the constitution of subjects, genealogy, governmentality, discipline, and regimes of truths imbue their feminist analyses of disability and ableism with complexity and richness, as well as inspire theoretical sophistication and intellectual rigor in the fields of philosophy of disability and disability studies more generally. No aspect of Foucault's corpus has been more consistently subjected to the charges of masculinism and male bias than his example of the nineteenth‐century farmhand Charles Jouy who, at about forty years of age, engaged in sexual activity with a girl, Sophie Adam, was reported to authorities, and subsequently was incarcerated in Maréville for the rest of his days. My central aim in this paper is to interrupt the momentum of the accepted feminist interpretation of the Jouy case by advancing a feminist perspective on Jouy's identity and the incidents involving Jouy and Adam that takes seriously insights derived from philosophy of disability and critical disability theory and history.
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Golisz, Kathleen, Amiya Waldman-Levi, Richard P. Swierat, and Joan Toglia. "Adults with intellectual disabilities: Case studies using everyday technology to support daily living skills." British Journal of Occupational Therapy 81, no. 9 (April 8, 2018): 514–24. http://dx.doi.org/10.1177/0308022618764781.
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Introduction Adults with intellectual developmental disorders may have difficulties undertaking activities of daily living. This study aimed to identify changes in independence in activities of daily living following learning support using individualized everyday technologies. Method A double-baseline case study design explored the use of everyday technology applications and devices to support functional performance of three men aged 32, 33, and 55 years, with mild to moderate intellectual disabilities. Performance of selected tasks was video-recorded and analysed on four occasions for each participant. Baselines were recorded twice before intervention to ensure the participant’s performance of the selected task was consistent. The intervention video was recorded at the midpoint of the participant’s engagement in the study. Post-intervention video was recorded approximately 1 month after the intervention ended. Results All three participants’ functional performance of an activity of daily living task improved in accuracy and efficiency as cues from support workers were gradually faded. After the learning support ceased, technology continued to provide environmental support of participants’ ongoing independence and efficient performance of the activity. Conclusion Everyday technology applications and devices can be utilized together with a guided and structured client-centred approach and task-specific training with individuals with disability and learning difficulties.
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Di Blasi, Francesco, Serafino Buono, Santina Città, Angela Costanzo, and Pierluigi Zoccolotti. "Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review." Brain Sciences 8, no. 8 (August 7, 2018): 146. http://dx.doi.org/10.3390/brainsci8080146.
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Background. In children with intellectual disability (ID), the acquisition of reading skills constitutes a basic step towards the possibility of independent living, social inclusion and participation. Methods. We carried out a narrative review of the literature on reading fluency and accuracy of individuals with ID resulting from different genetic syndromes (Fragile X, Williams, Velocardiofacial, Prader-Willi, and Down syndrome). Our aim was to define their reading profiles in light of the dual-route reading model. For this purpose, studies that examined both word and non-word reading in children with ID were included in the analysis. Results. Seventeen studies emerged based on the selection criteria. The results were different depending on the control group used. A deficit in reading non-words emerged in studies that used the reading-level match design but not when standardized scores were used, when controls were age-matched or when a mental age matching was used. Thus, a deficit in reading non-words emerged only in studies that used the reading-level match design. However, severe methodological criticisms were recently raised about the use of this matching design. Conclusions. In view of the methodological problems in using grade equivalents, it is premature to draw definite conclusions about the reading profile of children with ID resulting from different genetic syndromes. In any case, the reviewed evidence provides little support for the idea that children with ID have selective difficulty in phonological reading. Thus, the reading profile of children with ID remains an open question that needs to be investigated by means of methodologically sound research.
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Saleha, Shamim, Muhammad Sajid, Shaista Zafar, and Neelam Pervaiz. "Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)." Open Life Sciences 12, no. 1 (May 22, 2017): 167–77. http://dx.doi.org/10.1515/biol-2017-0020.
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AbstractIntellectual disability (ID) is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID) or non-syndromic (NS-ID). ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID) is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.
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Skelly, Allan, Caitriona Collins, and Mandip Dosanjh. "A service evaluation of psychodynamic psychotherapy for people with intellectual disabilities." FPID Bulletin: The Bulletin of the Faculty for People with Intellectual Disabilities 15, no. 2 (August 2017): 8–15. http://dx.doi.org/10.53841/bpsfpid.2017.15.2.8.
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The evidence base for psychodynamic psychotherapy for people with intellectual disabilities (ID) is mainly made up of case studies with a small number of open trials without control (Beail, 2016) and the development of the evidence base for psychological therapies is a priority. In this service evaluation, we estimated the significance and effect size of psychodynamic intervention in 66 cases from the time of assessment to case closure, using the Health of the Nation Outcome Scales for Learning Disability (HoNOS-LD). A significant and sizeable effect from assessment to case closure was detected on HoNOS-LD Total Score, with similar effects on subscale Factor Scores. A waiting list control condition for a smaller subset did not find significant overall change, and cases remaining within the service following intervention showed no deterioration after therapy. A relatively low number of sessions was required on average (13.7; median=8) but a dose-effect relationship was observed with more change associated with more sessions. We consider the shortcomings of this study and make recommendations for improved design of further studies.
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Bigby, Christine, and Julie Beadle-Brown. "Culture in Better Group Homes for People With Intellectual Disability at Severe Levels." Intellectual and Developmental Disabilities 54, no. 5 (October 1, 2016): 316–31. http://dx.doi.org/10.1352/1934-9556-54.5.316.
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Abstract Building on cultural dimensions of underperforming group homes this study analyses culture in better performing services. In depth qualitative case studies were conducted in 3 better group homes using participant observation and interviews. The culture in these homes, reflected in patterns of staff practice and talk, as well as artefacts differed from that found in underperforming services. Formal power holders were undisputed leaders, their values aligned with those of other staff and the organization, responsibility for practice quality was shared enabling teamwork, staff perceived their purpose as “making the life each person wants it to be,” working practices were person centered, and new ideas and outsiders were embraced. The culture was characterized as coherent, respectful, “enabling” for residents, and “motivating” for staff. Though it is unclear whether good group homes have a similar culture to better ones the insights from this study provide knowledge to guide service development and evaluation.
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Tsuchiya, Kenji J., Kaori Matsumoto, Taishi Miyachi, Masatsugu Tsujii, Kazuhiko Nakamura, Shu Takagai, Masayoshi Kawai, et al. "Paternal age at birth and high-functioning autistic-spectrum disorder in offspring." British Journal of Psychiatry 193, no. 4 (October 2008): 316–21. http://dx.doi.org/10.1192/bjp.bp.107.045120.
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BackgroundPrevious studies have reported the association between advanced paternal age at birth and the risk of autistic-spectrum disorder in offspring, including offspring with intellectual disability.AimsTo test whether an association between advanced paternal age at birth is found in offspring with high-functioning autistic-spectrum disorder (i.e. offspring without intellectual disability).MethodA case–control study was conducted in Japan. The participants consisted of individuals with full-scale IQ ⩾ 70, with a DSM–IV autistic disorder or related diagnosis. Unrelated healthy volunteers were recruited as controls. Parental ages were divided into tertiles (i.e. three age classes). Odds ratios and 95% confidence intervals were estimated using logistic regression analyses, with an adjustment for age, gender and birth order.ResultsEighty-four individuals with autistic-spectrum disorder but without intellectual disability and 208 healthy controls were enrolled. Increased paternal, but not maternal, age was associated with an elevated risk of high-functioning autistic-spectrum disorder. A one-level advance in paternal age class corresponded to a 1.8-fold increase in risk, after adjustment for covariates.ConclusionsAdvanced paternal age is associated with an increased risk for high-functioning autistic-spectrum disorder.
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Chang, Susan Soon Mee, and Joan Ozanne-Smith. "Drowning mortality in children aged 0–14 years in Victoria, Australia: detailed epidemiological study 2001–2016." Injury Prevention 26, no. 6 (August 17, 2019): 593–98. http://dx.doi.org/10.1136/injuryprev-2019-043307.
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BackgroundMajor reductions in child drowning mortality rates have been observed historically in Victoria, Australia, for the period 1863–2000. Despite this trend, drowning remains the leading cause of unintentional child death in Victoria. This study investigates the residual fatal drowning problem in the Victorian child population (0–14 years) for the period 2001–2016.AimsDescribe the epidemiology of child drowning deaths in the Victorian population in 2001–2016; investigate risk factors and direct antecedents to these deaths.MethodsPopulation-based retrospective case data were extracted from the National Coronial Information System for 16 years (January 2001–December 2016), and case-by-case analysis was conducted. Associated factors were determined using univariate and Poisson analyses.Results88 of 97 cases had information available for analysis, pools were the most frequent location (30%); 70% of all cases occurred between 08:00 and 17:00; most victims were not deliberately in the body of the water (73%), for example, the pool. Supervision lapses included carers leaving the room when the child was in the bath (16/18), siblings left to supervise the child in private pools (7/23), inadequate pool fences (8/23) or faulty/open gates (4/23), or neighbours’ pool spa (4/23). Delays in finding the child occurred when searches occurred elsewhere, before the body of water (21/88) and when carers were asleep (5/88). Fourteen of the 88 children had an intellectual disability or predisposing medical condition. The grouped Poisson analysis demonstrated that age 0–4 years, male gender and rural place of residence were significant. A downward trend in drowning rate continued in this period.Discussion and conclusionsA case-by-case analysis of a drowned population of children identified details of risk factors and antecedents not previously described. Missing data on antecedents were common, likely resulting in undercounting. Further enhancements to systematic data collection are needed. The results support a systems approach to drowning prevention.
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Eastwood, James. "Enabling Militarism? The Inclusion of Soldiers with Disabilities in the Israeli Military." International Political Sociology 13, no. 4 (September 3, 2019): 430–46. http://dx.doi.org/10.1093/ips/olz022.
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Abstract Soldiers are rarely imagined as having disabilities, other than when they are injured in war. Yet in recent years the Israeli military has devoted considerable resources to programs promoting the inclusion of soldiers with intellectual disabilities. This paper critically examines two such programs, arguing that they should prompt a reexamination of assumptions in both critical military studies and critical disability studies. These two fields are rarely placed in dialogue, especially in international relations. Yet this paper argues that they have productive insights to offer each other and suggests that the Israeli case raises important questions when their analytical frames are combined. First, the paper argues that this example complicates the category of soldier fitness in critical military studies and reveals that militarist distinctions between ability and disability can be destabilized in ways suggested elsewhere by critical disability studies. Second, however, the paper cautions that the emancipatory potential of alternative “crip” subjectivities explored in critical disability studies remains circumscribed by geopolitical processes (including neoliberalism, settler colonialism, and militarism), which international relations is well placed to analyze. These arguments are advanced by showing how these inclusionary programs for soldiers with disabilities are implicated in the debilitating violence of Israel's settler colonial project.
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Merrick, Joav, Shoshana Aspler, and Inessa Dubman. "Helicobacter pylori Infection in Persons with Intellectual Disability in Residential Care in Israel." Scientific World JOURNAL 1 (2001): 264–68. http://dx.doi.org/10.1100/tsw.2001.61.
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Helicobacter pylori (formerly Campylobacter pylori) was identified in 1982 by researchers from Australia as a pathogenic factor in peptic ulcer disease. Due to the few studies on H. pylori infection conducted in the population of persons with intellectual disability it was decided to conduct a clinical study in Israel. The purpose of the study was to determine the occurrence of H. pylori infection in persons who presented with severe dyspeptic symptoms and to monitor clinically the effect of treatment. The Division for Mental Retardation in Israel provides service to 6,022 persons in 53 residential care centers and 1 in central Israel was selected for this pilot study. The study has been performed since 1999 and each patient who came to the medical clinic of the institution with severe dyspeptic symptoms was examined clinically and a blood specimen drawn for IgG antibodies to H. pylori (ELISA, Pharmatop Millenia). In case of positive serology, triple drug treatment (amoxycillin, metronidazole, and pantoprazole or omepra-zole) was initiated for 1 week. Since 1999 a total of 43 persons (total population in care was 224) had severe dyspeptic symptoms and 42 persons (98%, 26 males, 16 females, mean age 45 years, mean institutionalization 20 years) had Helicobacter infection. All patients were treated for 1 week, but six patients received an extra month of omeprazole due to persistent symptoms. At follow-up, clinically all patients had improvement and only seven still had minor complaints (83% treatment success). Persons with developmental disability, intellectual disability, or mental retardation in residential care presenting with severe dyspeptic symptoms had a high incidence of H. pylori infection. Therefore, we recommend serology or urea breath investigations in this population presenting with dyspeptic symptoms and triple drug treatment for 1 week in case of positive findings.
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Widodo, Eko, and Syam Rachma Marcillia. "Spatial Adaptation of Intellectual Disability Children in Special Needs School’s Dormitory in Yogyakarta." Jurnal Kawistara 11, no. 1 (May 12, 2021): 45. http://dx.doi.org/10.22146/kawistara.63479.
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Various studies have shown the important roles of spatial environment in shaping behavior and cognitive processes. However educational buildings are often not well designed for this specific purpose. This is especially the case with school dormitory for special need schools. The unavailability of school dormitory planning standards has an impact on variations in the building’s diverse physical settings. The daily activities carried out in the dormitory still found the use of one space for several types of activities. This has an impact on the density level, which further requires spatial adaptation that will be implemented by the residents. This study aims to find out spatial adaptation in three different physical settings of special needs school dormitories with the focus of observation being children with intellectual disabilities. The research method is based on a behavior mapping - place centered mapping approach. As the result, this research shows that there are variations in different spatial adaptations in responding to each of the physical setting conditions of the dormitory. The form of spatial adaptation involves changes in the physical setting and behavior, namely adjustment, reaction, and withdrawal. Furthermore, this type of spatial adaptation has different ways in achieving the ideal conditions of activities carried out in the physical setting of the dormitory.
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Clerc, Jérôme, and Yannick Courbois. "Evidence of a Phonological Similarity Effect After Rehearsal Training in Adolescents With Intellectual Disability." Journal of Cognitive Education and Psychology 16, no. 2 (2017): 127–43. http://dx.doi.org/10.1891/1945-8959.16.2.127.
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A phonological similarity effect (PSE) in adolescents with an intellectual disability (ID) has previously been shown with auditory stimuli, but studies using visual stimuli are scarce. In the case of visually presented items, PSE requires verbal recoding before it appears. Using visual items, we trained 15 participants with ID to use rehearsal strategies. Another group of 13 participants took part in nonstrategic training. In both groups, PSE was tested before and after training. Participants in the strategy-training group, who showed no PSE at pretest, began to show such an effect during the training stage and maintained it until posttest as was observed through microgenetic analysis. Participants with ID showing no PSE with visual material can thus be trained to show this effect through extensive use of cumulative rehearsal. Such training would lead them to recode items verbally, which in turn would make phonological similarities more salient and lead to a PSE.
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Babameto-Laku, Anila, Serla Grabova, Jera Kruja, and Gentian Vyshka. "Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children." Journal of Pediatric Epilepsy 06, no. 03 (May 22, 2017): 156–60. http://dx.doi.org/10.1055/s-0037-1603493.
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AbstractEpilepsy is an ever-changing field of research, with genetics and genomics playing a very important role in recent times. Novel technologies detecting chromosomal aberrations are applied widely, and array-based comparative genomic hybridization (array CGH) has become a basic diagnostic tool in a variety of neurologic and neuropsychiatric conditions. The authors describe five Albanian children suffering from epilepsy and screened for genetic problems using array CGH and other methods. A thorough neurological examination and imaging studies were performed for all patients, who in addition to seizures, suffered from diverse medical conditions such as microcephaly, developmental delay, intellectual disability, dysmorphic features, heart anomalies, cryptorchidism, and other clinical stigmata of an aberrant neurodevelopment. It is evident from our case reports that the array CGH as a diagnostic tool in molecular genetics has facilitated the recognition of microdeletions and microduplications as risk factors for both generalized and focal epilepsies. This method, therefore, clearly has a practical and scientific value in the investigation of children with epilepsy and associated intellectual disability and congenital anomalies.
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Arthur, Michael, Phil Foreman, Sue Pascoe, Nancy Butterfield, and Deone Bennett. "Educational Programming for Students with High Support Needs: A Report of Work in Progress." Australasian Journal of Special Education 23, no. 1 (1999): 64–74. http://dx.doi.org/10.1017/s1030011200024519.
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This paper reports research in progress investigating parental and professional perspectives on issues relating to the education of students with high support needs, examined in the context of the perceived behaviour states of students. Students with high support needs typically have a combination of physical impairments, complicated medical conditions and severe to profound intellectual disability. The paper includes case studies on four students from a range of settings, based on the observation phase of the study. The case studies illustrate the nature of the output from behaviour states observation. It is suggested that the analysis of student behaviour states has potential for evaluating the outcomes of educational programs for students with high support needs.
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Bakken, Trine Lise, Arvid Nikolai Kildahl, Vibeke Gjersøe, Espen Matre, Tone Kristiansen, Arvid Ro, Anne Louise Tveter, and Siv Helene Høidal. "Identification of PTSD in adults with intellectual disabilities in five patients in a specialised psychiatric inpatient unit." Advances in Mental Health and Intellectual Disabilities 8, no. 2 (March 3, 2014): 91–102. http://dx.doi.org/10.1108/amhid-01-2013-0002.
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Purpose – The purpose of this paper is to describe and discuss assessment of post-traumatic stress disorder (PTSD) in adults with intellectual disabilities. Existing research in this area encompasses case studies, and includes, for the most part, persons with mild intellectual disabilities. Design/methodology/approach – The aim of this study is to investigate symptom presentation and subsequent identification of PTSD in persons with more severe intellectual disabilities; i.e. persons with moderate or severe intellectual disabilities. Five patients in a specialised psychiatric inpatient unit for patients with intellectual disabilities were included. Information about the patients was collected through case files and interviews with key informants: family, milieu therapists, and caregivers in community settings, and observations through inpatient admission. The authors of this paper followed a training programme for trauma therapists in addition to the inpatient treatment of the five patients. The five patients all met criteria for PTSD according to the Diagnostic Manual – Intellectual Disability. Findings – Previously, it was not suspected that the five patients suffered from PTSD, although they had experienced terrifying incidents. All patients displayed severe changes in behaviour, which may have overshadowed symptoms of PTSD. PTSD in persons with more severe intellectual disabilities may be interpreted as challenging behaviour, or other psychiatric disorders such as psychosis. Research limitations/implications – The limitation of the study is the small number of participants. Practical implications – Practical implication is linked to clinical practice related to identification of PTSD in persons with intellectual disabilities. Originality/value – The paper may encourage more research into how PTSD can be identified in persons with moderate and severe intellectual disabilities. The case reports may help clinicians to look for traumatic experiences in persons with intellectual disabilities who have experienced terrifying incidents.
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Méjécase, Cécile, Christopher M. Way, Nicholas Owen, and Mariya Moosajee. "Ocular Phenotype Associated with DYRK1A Variants." Genes 12, no. 2 (February 5, 2021): 234. http://dx.doi.org/10.3390/genes12020234.
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Dual-specificity tyrosine phosphorylation-regulated kinase 1A or DYRK1A, contributes to central nervous system development in a dose-sensitive manner. Triallelic DYRK1A is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency causes the rare DYRK1A-related intellectual disability syndrome (also known as mental retardation 7). It is characterised by intellectual disability, autism spectrum disorder and microcephaly with a typical facial gestalt. Preclinical studies elucidate a role for DYRK1A in eye development and case studies have reported associated ocular pathology. In this study families of the DYRK1A Syndrome International Association were asked to self-report any co-existing ocular abnormalities. Twenty-six patients responded but only 14 had molecular confirmation of a DYRK1A pathogenic variant. A further nineteen patients from the UK Genomics England 100,000 Genomes Project were identified and combined with 112 patients reported in the literature for further analysis. Ninety out of 145 patients (62.1%) with heterozygous DYRK1A variants revealed ocular features, these ranged from optic nerve hypoplasia (13%, 12/90), refractive error (35.6%, 32/90) and strabismus (21.1%, 19/90). Patients with DYRK1A variants should be referred to ophthalmology as part of their management care pathway to prevent amblyopia in children and reduce visual comorbidity, which may further impact on learning, behaviour, and quality of life.
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Turner, Jemima, Aisling Barry, Jack Doyle, Jane Hogg, Alanna Hynes, Emma Mahon, Cora Moloney, Emma Shortt, and Máire O’Dwyer. "The adverse effects of long-term exposure to antipsychotics among older people with intellectual disabilities: a scoping review." HRB Open Research 5 (December 1, 2022): 78. http://dx.doi.org/10.12688/hrbopenres.13644.1.
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Background Antipsychotics are among the medications most prescribed to older adults with intellectual disabilities despite limited evidence to support their safety and efficacy in this population. Antipsychotics are associated with a significant burden of long-term adverse effects including movement disorders, metabolic and cardiovascular adverse effects, sedation and anticholinergic effects. This scoping review aims to evaluate the current extent of the literature relating to adverse effects of long-term antipsychotic use in older adults with intellectual disabilities and identify any existing gaps. Methods The review was conducted in line with the framework for scoping reviews proposed by Arksey and O’Malley. A systematic literature search was carried out, including searches of PubMed, Cochrane Library, ScienceDirect, Embase, PsycINFO and grey literature databases. Reference lists of studies were also reviewed as part of the search. Studies were included in the review if they related to adults over 40 years of age with an intellectual disability who had been taking antipsychotic medication for at least 3 months. Results A total of 13 studies were identified for inclusion in the review. These included retrospective reviews,observational studies, case reports, cohort studies and cross-sectional studies. Adverse effects reported include extrapyramidal symptoms, cardiovascular and metabolic effects, and case reports of rhinorrhoea, hypothermia and ischaemic colitis. Increasing age was associated with a greater burden of adverse effects in some studies. Conclusion The available evidence on the adverse effects of long-term antipsychotic use in older adults with intellectual disabilities is weak and conflicting. The studies included were generally of poor quality with numerous limitations including small sample sizes and lack of control groups. More research is needed to inform understanding of adverse effects associated with long-term antipsychotic use in this population.
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Sajith, S., and W. Wong. "Pathologic Aerophagia in Patients with Intellectual Disability: A Review of its Pathophysiology, Clinical Features and Management." European Psychiatry 33, S1 (March 2016): S477. http://dx.doi.org/10.1016/j.eurpsy.2016.01.1741.
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BackgroundPathologic aerophagia is characterised by excessive swallowing of air resulting in significant abdominal distension or belching. This is a relatively rare condition in general population but has been reported in up to 8.8% of institutionalized patients with intellectual disability (ID). In severe cases, this can cause volvulus and ileus, and even intestinal perforation. Currently, there is limited information on this potentially life-threatening condition, particularly for people with ID.AimTo review the up to date literature on the pathophysiology, clinical features and management strategies of pathologic aerophagia in relation to people with ID.MethodsA literature search of electronic database was performed using specific keywords. Review articles were selected using pre-defined criteria.ResultsApart from a few small controlled trials on pharmacotherapy, most of the studies were case series or uncontrolled studies. The understanding on pathophysiology is incomplete but is thought to involve a reflex-induced movement of upper oesophageal sphincter and may be associated with anxiety or stress. A comprehensive history and physical examination as well as an abdominal radiograph may be helpful in diagnosis. The mainstay of treatment is reassurance and behaviour therapy. Medications that are helpful include antacids, anti-reflux drugs and benzodiazepines. Surgical treatment is recommended for patients who do not respond to conservative treatment.ConclusionsPathologic aerophagia is not uncommon in people with ID and can present with severe challenges in the assessment and management. Further studies are necessary to provide evidence-based treatment guidelines for the management of this condition particularly in patients with ID.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Iversen, Trine Elisabeth, Kristin Horndalsveen, Espen Matre, Tine Finstad Henriksen, Sarah Fusche, Arvid Nikolai Kildahl, and Trine Lise Bakken. "Inpatient treatment of borderline personality disorder in adults with intellectual disability: reflections on practice." Advances in Mental Health and Intellectual Disabilities 13, no. 2 (March 4, 2019): 67–75. http://dx.doi.org/10.1108/amhid-03-2018-0008.
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Purpose There are few publications on personality disorder in adults with intellectual disability (ID), and on borderline personality disorder (BPD) specifically. Publications concerning treatment are sparse, despite the high symptom burden in these patients. This paper aims to discuss these issues. Design/methodology/approach Six patients with BPD and ID were recruited from the same inpatient unit. Behaviour problems and mental health symptoms were scored on admission and discharge. Information about treatment, length of stay, etc. was taken from case files. Findings Both mental health symptoms measured by the SCL-90-R, and behaviour problems measured by the Aberrant Behaviour Checklist were significantly reduced on discharge. In the active treatment period, the two main aspects of treatment were validation and practicing new solutions when emotional and behavioural problems occur, i.e. skills training. Research limitations/implications The limitations related to this study are that the study is conducted in one milieu only. Another limitation is that the patients were admitted over a five-year period, where, some changes were made in the treatment approach. Practical implications Inpatient treatment of this patient group seems to be effective if individually adjusted to the patient’s psychopathology, ID and communication style. Close co-operation between the individual therapist and milieu therapists is essential. Originality/value There is a need for intervention studies on BPD in ID. This study may be a valuable contribution.
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McCarron, Mary, Richard Lombard-Vance, Esther Murphy, Peter May, Naoise Webb, Greg Sheaf, Philip McCallion, et al. "Effect of deinstitutionalisation on quality of life for adults with intellectual disabilities: a systematic review." BMJ Open 9, no. 4 (April 2019): e025735. http://dx.doi.org/10.1136/bmjopen-2018-025735.
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ObjectiveTo review systematically the evidence on how deinstitutionalisation affects quality of life (QoL) for adults with intellectual disabilities.DesignSystematic review.PopulationAdults (aged 18 years and over) with intellectual disabilities.InterventionsA move from residential to community setting.Primary and secondary outcome measuresStudies were eligible if evaluating effect on QoL or life quality, as defined by study authors.SearchWe searched MEDLINE, PsycINFO, CENTRAL, CINAHL, EconLit, Embase and Scopus to September 2017 and supplemented this with grey literature searches. We assessed study quality using the Critical Appraisal Skills Programme suite of tools, excluding those judged to be of poor methodological quality.ResultsThirteen studies were included; eight quantitative studies, two qualitative, two mixed methods studies and one case study. There was substantial agreement across quantitative and qualitative studies that a move to community living was associated with improved QoL. QoL for people with any level of intellectual disabilities who move from any type of institutional setting to any type of community setting was increased at up to 1 year postmove (standardised mean difference [SMD] 2.03; 95% CI [1.21 to 2.85], five studies, 246 participants) and beyond 1 year postmove (SMD 2.34. 95% CI [0.49 to 4.20], three studies, 160 participants), with total QoL change scores higher at 24 months comparative to 12 months, regardless of QoL measure used.ConclusionOur systematic review demonstrated a consistent pattern that moving to the community was associated with improved QoL compared with the institution. It is recommended that gaps in the evidence base, for example, with regard to growing populations of older people with intellectual disability and complex needs are addressed.PROSPERO registration numberCRD42018077406.
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Potvin, Lynne A., Barbara M. Barnett, Hilary K. Brown, and Virginie Cobigo. "“I Didn’t Need People’s Negative Thoughts”: Women With Intellectual and Developmental Disabilities Reporting Attitudes Toward Their Pregnancy." Canadian Journal of Nursing Research 51, no. 3 (January 2, 2019): 154–67. http://dx.doi.org/10.1177/0844562118819924.
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Background Since the illegalization of involuntary sterilization of persons with intellectual and developmental disabilities, there has been an increase in childbearing in this population. However, women with intellectual and developmental disabilities continue to experience prejudicial attitudes toward their pregnancies. Objective To analyze the experiences of women with intellectual and developmental disabilities regarding their perceptions of support persons’ attitudes toward their pregnancies. Methods Three case studies derived from grounded theory research exploring perinatal social support received by women with intellectual and developmental disabilities. Using inductive content analysis, we further analyzed the perceptions of women with intellectual and developmental disabilities regarding support persons’ attitudes toward their pregnancies. Findings: The nature of interactions with support persons and women’s characteristics, such as help-seeking behaviors, disability, mental illness, and age, influenced support persons’ attitudes toward childbearing. Women preferred support from caregivers perceived as nonjudgmental and tended to restrict contact with persons perceived as prejudicial. However, some attitudes improved following positive interactions with the women. The relationship between support persons’ attitudes and the women’s help-seeking behaviors is thus complex. Conclusions Education of families and medical and social services practitioners and opportunities for positive contact should be further explored. Caseworkers of women with intellectual and developmental disabilities may have invaluable roles in facilitating positive interactions between women with intellectual and developmental disabilities and caregivers.
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Tritto, Giovanna, Ivana Ricca, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano, and Fortunato Lonardo. "Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report." Children 8, no. 6 (June 18, 2021): 518. http://dx.doi.org/10.3390/children8060518.
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Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism.
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Korb, Laura, Bhathika Perera, and Ken Courtenay. "Challenging behaviour or untreated ADHD?" Advances in Mental Health and Intellectual Disabilities 13, no. 3/4 (June 12, 2019): 152–57. http://dx.doi.org/10.1108/amhid-12-2018-0053.
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Purpose The purpose of this paper is to illustrate the possible basis of challenging behaviour (CB) can lie in a treatable neurodevelopmental disorder. Design/methodology/approach Two case studies were used to illustrate the clinical characteristics of attention deficit hyperactivity disorder (ADHD) presenting as CB in people with intellectual disability (ID). Findings The findings of this paper show that the appropriate use of drug therapy for ADHD effectively reduced the behavioural challenges. Research limitations/implications Limited by two cases. Application of the findings of this paper is limited given it is a case study. This paper highlights an important clinical implications which need to be studied in a larger scale to make clinical recommendations. Practical implications Findings from the two case studies may be used when making decisions in clinical practice. Originality/value The paper explores the possibility of ADHD presenting as CB in people with ID.
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Thompson, Grace A., and Katrina Skewes McFerran. "Music therapy with young people who have profound intellectual and developmental disability: Four case studies exploring communication and engagement within musical interactions." Journal of Intellectual and Developmental Disability 40, no. 1 (October 7, 2014): 1–11. http://dx.doi.org/10.3109/13668250.2014.965668.
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Amador L, Jesus E. "Porencephalic cyst due to encephalomacia with neuropsychiatric symptoms and epilepsy: a case report." Journal of Neurology & Stroke 12, no. 5 (2022): 165–67. http://dx.doi.org/10.15406/jnsk.2022.12.00519.
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Porencephaly is a rare pathology and is commonly due to an encephalomalacia lesion. Both have two types: congenital or acquired, causing neurological symptoms and/or disorders such as epilepsy, intellectual disability, cognitive difficulties or impairment, and depressive-type neuropsychiatric symptoms, irritability, behavioral changes, and psychosis. Symptoms will depend on the size and location. Objective: Expose clinical data; and diagnostic and therapeutic methodology. Case: We present a 44-year-old female patient; with a personal medical history of epilepsy and neurodevelopmental disorder, who has a history of aggression and frequent seizures. Neuroimaging was performed, finding an injury due to encephalomalacia and, by neurological evaluation, it has an impression of porencephaly. Through laboratory tests, electrophysiological studies (electroencephalogram), neuroimaging and clinical evaluation. It is decided to present the clinical characteristics found in the patient who required management with antiepileptic, mood stabilizer and psychological - occupational therapies with gradual improvement of her admission symptoms.