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Autism Research : Official Journal of... Dec 2022Previous research has identified that patterns of cooccurring conditions (CoCs) associated with autism spectrum disorder (ASD) differ based on the presence of...
Previous research has identified that patterns of cooccurring conditions (CoCs) associated with autism spectrum disorder (ASD) differ based on the presence of intellectual disability (ID). This study explored the association of documented CoCs among 8-year-old children with ASD and ID (ASD+ID, n = 2416) and ASD without ID (ASD-ID, n = 5372) identified by the Autism and Developmental Disabilities Monitoring Network, surveillance years (SYs) 2012 and 2014. After adjusting for demographic variables, record source, surveillance site, and SY, children with ASD+ID, as compared with children with ASD-ID, were more likely to have histories of nonspecific developmental delays and neurological disorders documented in their records but were less likely to have behavioral and psychiatric disorders. ID plays a key role on how children with ASD would experience other CoCs. Our results emphasize how understanding the pattern of CoCs in ASD+ID and ASD-ID can inform comprehensive and multidisciplinary approaches in assessment and management of children in order to develop targeted interventions to reduce possible CoCs or CoCs-related impairments.
Topics: Child; Humans; Autism Spectrum Disorder; Intellectual Disability; Prevalence; Research; Autistic Disorder
PubMed: 36245337
DOI: 10.1002/aur.2831 -
Child: Care, Health and Development Sep 2020Children with intellectual disability are susceptible to poor experiences of care and treatment outcomes, and this may compound existing health inequities. Evidence to...
Children with intellectual disability are susceptible to poor experiences of care and treatment outcomes, and this may compound existing health inequities. Evidence to date indicates three priority areas that must be addressed in order to reduce these inequities in the safety and quality of care for children with intellectual disability. Firstly, we need reliable methods to identify children with intellectual disability so that healthcare organizations understand their needs. Secondly, we need to develop quality metrics that can assess care quality and unwarranted care variation for children with intellectual disability in hospital. Finally, for a comprehensive understanding of the safety and quality of care for these children, and how to improve, it is critical that healthcare organizations partner with parents/carers and enable children with intellectual disability to voice their experiences of care. Children with intellectual disability have higher healthcare utilization than their peers; yet, their voice is rarely sought to optimize the safety and quality of their healthcare experience. Patient experience narratives enhance our understanding of the genesis of adverse events. By addressing these priorities, children with intellectual disability will be identified, and health services will measure and understand the problematic and beneficial variations in care delivery and can then effectively partner with children and their parents/carers to address the inequities in care quality and create safer healthcare.
Topics: Health Equity; Hospitalization; Humans; Intellectual Disability; Quality of Health Care
PubMed: 32468634
DOI: 10.1111/cch.12787 -
Journal of Neurodevelopmental Disorders Dec 2018Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe... (Review)
Review
Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular-statistical learning-and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of children with IDD conditions. While a full picture is not yet available, results to date suggest that studies of learning are both feasible and informative about learning processes that may differ across diagnostic groups, particularly as they relate to language acquisition.More generally, studies focused on learning processes may be highly informative about different developmental trajectories both across groups and within groups of children.
Topics: Developmental Disabilities; Humans; Intellectual Disability; Language Development; Language Development Disorders; Learning; Statistics as Topic
PubMed: 30541453
DOI: 10.1186/s11689-018-9252-y -
Clinical Psychology Review Aug 2022Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological... (Review)
Review
Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological interventions. In this systematic review and narrative synthesis (PROSPERO 2021: CRD42021240930), we identify and evaluate the evidence base for the phenomenon and phenomenology of mental imagery in people with intellectual disabilities, to ascertain the applicability of such interventions for this population. Electronic searches of nine databases and grey literature identified relevant publications. Two reviewers independently assessed titles and abstracts of retrieved records (n = 8609) and full-text articles (n = 101) against eligibility criteria. Data were extracted and quality appraised. Forty-onepapers met our eligibility criteria. The quality and designs were variable. Mental imagery was facilitated through ensuring participants understood tasks, providing opportunity to rehearse tasks (including using concrete prompts) and using scaffolding to help participants elaborate their responses. People with intellectual disabilities can engage with mental imagery, with appropriate adaptations, although the associated phenomenology has not been thoroughly investigated. Mental imagery interventions may be useful for people with intellectual disabilities with appropriate modifications.
Topics: Humans; Intellectual Disability
PubMed: 35738164
DOI: 10.1016/j.cpr.2022.102178 -
American Journal of Medical Genetics.... Nov 2013Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden,... (Review)
Review
Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected.
Topics: Abnormalities, Multiple; Genes, X-Linked; Humans; Intellectual Disability; Phenotype; Syndrome
PubMed: 24166814
DOI: 10.1002/ajmg.a.36179 -
Clinics (Sao Paulo, Brazil) 2011Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by... (Review)
Review
Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Intellectual disability is a clinically important disorder for which the etiology and pathogenesis are still poorly understood. Moreover, although tremendous progress has been made, pharmacological intervention is still currently non-existent and therapeutic strategies remain limited. Studies in humans have a very limited capacity to explain basic mechanisms of this condition. In this sense, animal models have been invaluable in intellectual disability investigation. Certainly, a great deal of the knowledge that has improved our understanding of several pathologies has derived from appropriate animal models. Moreover, to improve human health, scientific discoveries must be translated into practical applications. Translational research specifically aims at taking basic scientific discoveries and best practices to benefit the lives of people in our communities. In this context, the challenge that basic science research needs to meet is to make use of a comparative approach to benefit the most from what each animal model can tell us. Intellectual disability results from many different genetic and environmental insults. Taken together, the present review will describe several animal models of potential intellectual disability risk factors.
Topics: Animals; Disease Models, Animal; Down Syndrome; Fragile X Syndrome; Intellectual Disability; Metabolism, Inborn Errors; Rett Syndrome
PubMed: 21779723
DOI: 10.1590/s1807-59322011001300007 -
BMC Medical Genomics Oct 2023Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked... (Review)
Review
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
AIM AND OBJECTIVE
Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 males. In the last decades, exome sequencing technology has revolutionized the process of disease-causing gene discovery in XLIDs. Nevertheless, so many of them still remain with unknown etiology. This study investigated four families with severe XLID to identify deleterious variants for possible diagnostics and prevention aims.
METHODS
Nine male patients belonging to four pedigrees were included in this study. The patients were studied genetically for Fragile X syndrome, followed by whole exome sequencing and analysis of intellectual disability-related genes variants. Sanger sequencing, co-segregation analysis, structural modeling, and in silico analysis were done to verify the causative variants. In addition, we collected data from previous studies to compare and situate our work with existing knowledge.
RESULTS
In three of four families, novel deleterious variants have been identified in three different genes, including ZDHHC9 (p. Leu189Pro), ATP2B3 (p. Asp847Glu), and GLRA2 (p. Arg350Cys) and also with new clinical features and in another one family, a reported pathogenic variant in the L1CAM (p. Glu309Lys) gene has been identified related to new clinical findings.
CONCLUSION
The current study's findings expand the existing knowledge of variants of the genes implicated in XLID and broaden the spectrum of phenotypes associated with the related conditions. The data have implications for genetic diagnosis and counseling.
Topics: Humans; Male; Intellectual Disability; Exome Sequencing; Iran; Mutation; Genes, X-Linked; Pedigree
PubMed: 37821930
DOI: 10.1186/s12920-023-01680-y -
The Israel Journal of Psychiatry and... 2006
Topics: Comorbidity; Health Services Needs and Demand; Humans; Intellectual Disability; Israel; Mental Disorders; Specialization
PubMed: 17338441
DOI: No ID Found -
International Journal of Environmental... Oct 2022Intellectual disability is a neurodevelopmental disorder with a related co-occurrence of mental health issues and challenging behaviors. In addition to purely cognitive... (Review)
Review
Intellectual disability is a neurodevelopmental disorder with a related co-occurrence of mental health issues and challenging behaviors. In addition to purely cognitive functions, socio-emotional competencies may also be affected. In this paper, the lens of developmental social neuroscience is used to better understand the origins of mental disorders and challenging behaviors in people with an intellectual disability. The current concept of intelligence is broadened by socio-emotional brain functions. The emergence of these socio-emotional brain functions is linked to the formation of the respective neuronal networks located within the different parts of the limbic system. Thus, high order networks build on circuits that process more basic information. The socio-emotional skills can be assessed and complement the results of a standardized IQ-test. Disturbances of the brain cytoarchitecture and function that occur at a certain developmental period may increase the susceptibility to certain mental disorders. Insights into the current mental and socio-emotional functioning of a person may support clinicians in the calibration of treatment and support. Acknowledging the trajectories of the socio-emotional brain development may result in a more comprehensive understanding of behaviors and mental health in people with developmental delays and thus underpin supports for promotion of good mental health in this highly vulnerable population.
Topics: Humans; Intellectual Disability; Emotions; Mental Health; Neurodevelopmental Disorders; Brain
PubMed: 36293690
DOI: 10.3390/ijerph192013109 -
Psychiatria Danubina Dec 2021People with intellectual disability or psychiatric disorders are commonly excluded from Randomized Controlled Trials (RCTs) because of explicit exclusion to the trials...
People with intellectual disability or psychiatric disorders are commonly excluded from Randomized Controlled Trials (RCTs) because of explicit exclusion to the trials or because of inaccessible research protocols. We analyzed the exclusion rate of persons with cognitive impairment, psychiatric disorders and inability to give informed consent in interventional RCTs about the first 10 causes of global DALYs (disability- adjusted life-years) according to the Global Burden of Disease Study (GBD) utilizing the website Clinicaltrials.gov. A total of 2809 studies in the 10 selected categories were reviewed. "Cognitive impairment" was present in 488 (17.4%) studies, "Behavioural and psychiatric disorders" was present in 616 (21.9%) studies, "Inability to grant informed consent" was present in 498 (17.7%) studies and the three explicit criteria were present, alone or in combination, in 1076 studies (38.3%). Other disability-related exclusion criteria were considered to be implicit exclusion criteria and were present in 1233 (43.9%) studies. A judgement was made on the correlation between the exclusion criteria and the primary objectives of the studies analyzed. The low level of representation of people with disabilities in RCTs, in addition to being an ethical problem, is a limitation of scientific knowledge because it considerably reduces the external validity of a significant part of medical research. There is a need to review the way scientific research designs are constructed, seeking to promote greater inclusiveness of people with disabilities.
Topics: Disability-Adjusted Life Years; Disabled Persons; Humans; Informed Consent; Intellectual Disability; Randomized Controlled Trials as Topic
PubMed: 34862888
DOI: No ID Found