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"Intellectual disability"
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Cognitive behaviour therapy for people with intellectual disabilities : thinking creatively
This book examines the influence others have on the lives of people with intellectual disabilities and how this impacts on their psychological well-being. Based on the authors' clinical experiences of using cognitive behavioural therapy with people who have intellectual disabilities, it takes a social interactionist stance and positions their arguments in a theoretical and clinical context. The authors draw on their own experiences and several case studies to introduce novel approaches on how to adapt CBT assessment and treatment methods for one-to-one therapy and group interventions. They detail the challenges of adapting CBT to the needs of their clients and suggest innovative and practical solutions. This book will be of great interest to scholars of psychology and mental health as well as to therapists and clinicians in the field.
Book
The Prevalence of Self-injurious Behaviour in Autism: A Meta-analytic Study
Self-injurious behaviour is purportedly common in autism, but prevalence rates have not yet been synthesised meta-analytically. In the present study, data from 14,379 participants in thirty-seven papers were analysed to generate a pooled prevalence estimate of self-injury in autism of 42% (confidence intervals 0.38–0.47). Hand-hitting topography was the most common form of self-injury (23%), self-cutting topography the least common (3%). Sub-group analyses revealed no association between study quality, participant intellectual disability or age and overall prevalence rate of self-injury. However, females obtained higher prevalence rates than males (p = .013) and hair pulling and self-scratching were associated with intellectual disability (p = .008 and p = .002, respectively). The results confirm very high rates of self-injury in autism and highlight within group risk-markers.
Journal Article
Intellectual disability : a conceptual history, 1200-1900
\"This collection explores the historical origins of our modern concepts of intellectual or learning disability. The essays, from some of the leading historians of ideas of intellectual disability, focus on British and European material from the Middle Ages to the late-nineteenth century and extend across legal, educational, literary, religious, philosophical and psychiatric histories. They investigate how precursor concepts and discourses were shaped by and interacted with their particular social, cultural and intellectual environments, eventually giving rise to contemporary ideas. The collection is essential reading for scholars interested in the history of intelligence, intellectual disability and related concepts, as well as in disability history generally\"-- Provided by publisher.
Book
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by
GRIA1-4
genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca
2+
-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous
de novo GRIA2
mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most
GRIA2
mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that
de-novo
variants in
GRIA2
can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous
de novo
mutations in the
GRIA2
gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca
2+
transport and AMPAR currents.”
Journal Article
Health inequalities and people with intellectual disabilities
\"People with intellectual disabilities die at a younger age and have poorer health than their non-disabled peers. This is largely avoidable and is unjust. This book uses concepts from contemporary public health to provide a comprehensive evidence-based overview of: the nature and extent of the health inequalities experienced by people with intellectual disabilities; why these inequalities occur and persist; and what can and needs to be done to address these inequalities. The authors have a wealth of firsthand experience gained from years of working at the interface between disability research and public health. This experience is collected and shared in this volume, which will be an invaluable resource for practitioners, advocates, policymakers and researchers concerned with health and social care and the wellbeing of disabled people\"--Provided by publisher.
Book
Prevalence and incidence of physical health conditions in people with intellectual disability – a systematic review
To synthesize evidence on the prevalence and incidence of physical health conditions in people with intellectual disability (ID).
We searched Medline, PsycInfo, and Embase for eligible studies and extracted the prevalence, incidence, and risk of physical health conditions in people with ID.
Of 131 eligible studies, we synthesized results from 77 moderate- to high-quality studies, which was mainly limited to high-income countries. The highest prevalence estimates were observed for epilepsy, ear and eye disorders, cerebral palsy, obesity, osteoporosis, congenital heart defects, and thyroid disorders. Some conditions were more common in people with a genetic syndrome. Compared with the general population, many health conditions occur more frequently among people with ID, including asthma and diabetes, while some conditions such as non-congenital circulatory diseases and solid cancers occur at the same or lower rate. The latter associations may reflect under-detection.
People with ID have a health profile more complex than previously known. There is a pressing need for targeted, evidence-informed population health initiatives including preventative programs for this population.
Journal Article
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features.
Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individuals either by exome sequencing or LSS Sanger sequencing. Splicing defects were assessed by transcript analysis and minigene assay.
We reported ten APMR individuals from six unrelated families with biallelic variants in LSS. We additionally identified one affected individual with a single rare variant in LSS and an allelic imbalance suggesting a second event. Among the identified variants, two were truncating, seven were missense, and two were splicing variants. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
In the cholesterol biosynthesis pathway, lanosterol synthase leads to the cyclization of (S)-2,3-oxidosqualene into lanosterol. Our data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome.
Journal Article
Pediatric intellectual disabilities at school : translating research into practice
This book synthesizes the most current evidence-based research and practices on prevention, assessment, intervention, and treatment of pediatric intellectual developmental disabilities. It provides a broad empirical framework for innovative practices and discusses their possible impact on children's future development, ability to learn, social skills, and quality of life. The book highlights important findings in cognitive and behavioral development for children with such disorders as 22q13 Deletion syndrome (i.e., Phelan McDermid syndrome), Prader-Willi syndrome, Williams syndrome, and sex chromosome disorders (e.g., Klinefelter syndrome) - children often considered untestable, unteachable, and unknowable. In addition, the book includes case studies that emphasize a team approach with physicians, families, school psychologists, and teachers for providing quality research-based psychological, educational, and mental health services. Topics featured in this book include: Up-to-date findings on the causes and symptoms of intellectual disability disorders. Common medical treatments for children with intellectual disabilities. Therapeutic interventions for children with intellectual disabilities. Psychoeducational assessment practices for children requiring special education assistance. Future directions to support people with intellectual disabilities. Pediatric Intellectual Disabilities at School is a must-have resource for researchers, graduate students, and other professionals in child and school psychology, psychiatry, social work, special and general education, public health, and counseling.
Book
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS) is associated with a 20–25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.
Polygenic risk scores are nearing a level of differentiation required for their clinical utility in risk prediction in populations with high-risk rare pathogenic genetic variants.
Journal Article