Intellectual Disabilities - Science topic

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder listed under the umbrella of developmental disorders or intellectual disabilities that affect social communication and behavior. Early identification is critical for initiating timely interventions, which improve developmental outcomes. The Modified Checklist for Autism in Toddlers, Re...

Background Understanding the place of death for individuals with mental and behavioural disorders (MBDs) is essential for identifying disparities in healthcare access and outcomes, as well as addressing broader health inequities within this population. AimsTo examine the place of death among individuals in Sweden with the underlying cause of death...

Background The extended life expectancy in individuals with Down Syndrome (DS) has led to the emergence of age‐related diseases, with Alzheimer’s disease (AD) being particularly noteworthy due to its nearly full penetrance. The level of intellectual disability (ID), regarded as a proxy for cognitive reserve (CR), explains heterogeneity in cognitive...

Background and aims: Children with intellectual disabilities often experience deficits in executive functions and motor skills. This study aimed to investigate the impact of perceptual-motor exercises on improving both executive functions and the development of fundamental motor skills in children with intellectual disabilities. Methods: This quasi...

Background It is known that atipical aging in DS is related to a high risk of early dementia, with neuropathological charactheristics compatible with Alzheimer´s disease (AD). Changes in functional mobility are expected throughout the aging process, with impairments in motor performance, involving balance and gait. Growing evidence suggests that sl...

Background Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs. Aim...

The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to pr...

Background Individuals with Down Syndrome (DS) almost invariably develop Alzheimer's Disease (AD), but detecting early clinical changes is challenging due to comorbid intellectual disability, highlighting the importance of non‐invasive biomarkers. Neuroimaging of the medial temporal lobe (MTL), a key site of tau pathology, shows promise as an early...

Background Individuals with Down Syndrome (DS) almost invariably develop Alzheimer's Disease (AD), but detecting early clinical changes is challenging due to comorbid intellectual disability, highlighting the importance of non‐invasive biomarkers. Neuroimaging of the medial temporal lobe (MTL), a key site of tau pathology, shows promise as an early...

Background Down syndrome (DS) is the most common and best‐known chromosomal disorder in humans and the most frequent cause of intellectual disability of genetic origin, affecting about 6 million people worldwide. Individuals with DS may develop Alzheimer disease (AD) by age 55‐60 years, and sometimes as young as 40 years due to the triplication of...

Background The COVID‐19 pandemic in Ethiopia posed additional challenges to an already strained mental health service. Eka Kotebe Hospital, the second‐largest mental health facility with a capacity of 175 beds, was transformed into a dedicated COVID‐19 treatment center, leaving mental health service users, especially vulnerable elderly patients wit...

Adults with intellectual and developmental disabilities (I/DD) and their caregivers may face many barriers to obtaining an accurate assessment of cognitive decline. For example, primary care providers may mistake manifestations of new cognitive impairments or dementia for symptoms of the underlying disability. Pre‐existing cognitive impairments, co...

This article examines the motivation of adults with intellectual disabilities who participate in the “Come to College!” regular educational program. This program has been implemented at the Department of Social Work and Special Education of the Faculty of Science, Humanities and Education of the Technical University of Liberec by teachers in tandem...

Background Down Syndrome (DS) is the most common genetic form of intellectual disability. In recent years, there has been a significant increase in the life expectancy of individuals with DS, currently reaching the age of 60 or over. However, it has been observed that as of age 40, these individuals experience higher risk of developing dementia, an...

Background Evidence in adults without Down syndrome (DS) suggests that exercise during mid‐life improves cognitive function and decreases risk of later life dementia. Studies supporting this relationship in adults with DS are limited. The purpose of this study was to examine changes in cognitive function after a 12‐mo exercise intervention in adult...

Fragile X Syndrome (FXS) is a common monogenic cause of autism spectrum disorder and intellectual disability (ASD/ID), but the neural mechanisms underlying its symptoms remain unclear. Here, we investigate the development of the head-direction (HD) system in a rat model of FXS ( Fmr1 -/y rats). Using high-density silicon probes, we recorded neurona...

In the digital age, computational thinking (CT)-based problem-solving skills have emerged as essential competencies. Particularly, students with intellectual disabilities need equal educational opportunities and high-quality informatics education to cultivate CT-based problem-solving skills. However, research on the enhancement of CT-based problem-...

Introduction: The fact that inclusive education has existed in Bosnia and Herzegovina for twenty years opens the question of how it affects typically developing children, among other things. This paper aims to examine the differences in general knowledge and mathematics of typically developing students with regard to whether they attend classes tha...

Here Mother Tongue Instruction (MTI) in secondary school education for students with intellectual disabilities is investigated. Earlier research shows that multilingual development may have positive effects on students’ development of language and cognition. The specific aim is to investigate what MTI in the adapted school for students with intelle...

Background Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID)...

Background This study examined the profiles of adaptive behavior development in adults with autism spectrum disorder (ASD) and severe intellectual disability (ID), and the relationships between the levels of the different domains and subdomains of adaptive development and the intensity of autistic symptomatology. Participants This study involved 7...

Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.

Bu araştırmada, zihinsel yetersizliği olan öğrencilere hiyerarşik üst düzey isimlerden sebze, mobilya ve iletişim aracı kavramlarının öğretilmesinde Doğrudan Öğretim Modeli'nin etkisinin incelenmesi amaçlanmıştır. Araştırmada tek denekli deneysel desenlerden davranışlar arası yoklama evreli çoklu yoklama modeli kullanılmıştır. Araştırmanın bağımlı...

Actin polymerization and depolymerization are fundamental cellular processes required not only for the embryonic and postnatal development of the brain but also for the maintenance of neuronal plasticity and survival in the adult and aging brain. The orchestrated organization of actin filaments is controlled by various actin regulatory proteins. Wi...

Inclusive research, which emphasises the active involvement of people with disabilities in the research process, is increasingly recognised as vital for enhancing research quality. Despite its importance, there is a significant gap in the literature regarding implementing inclusive research within doctoral studies in health and wellbeing. This pape...

Introduction DYRK1A , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to DYRK1A have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader cognitive and behavioral phenoty...

Background Adults with intellectual or developmental disability (IDD) are at higher risk for incomplete cancer staging. Aim To compare unknown stage data between those with and without IDD. Materials and Methods We used the Ontario Cancer Registry linked to administrative health data between 2007 and 2019. Results Adults with IDD diagnosed with...

Introduction The United Nations underlines the participation in all domains of daily living for people with intellectual and/or multiple disabilities in the Disability Rights Convention, which also includes medical services. In line with this, the German Federal Participation Act has further developed the relevant disability policy at the national...

The study of the effectiveness of teaching action is a means of pedagogical intervention which has been the subject of a large body of research. Most researchers emphasize the possibilities in pedagogy, and more particularly in motor education where there is some practical material, about the use of methods based on verbal interventions. In motor e...

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights in...

The objective was to investigate the effects of auditory environments on postural balance during cognitive tasks. Nineteen individuals with intellectual disabilities, aged between 15 and 19, participated in the study. The assessment involved center of pressure (CoP) measurements on both firm and foam surfaces under open-eye (OE) and closed-eye (CE)...

Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improv...

Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry....

Individuals with intellectual disabilities (ID) often exhibit lower levels of physical fitness compared to the general population, including reduced strength, endurance, flexibility, and coordination. Dynamic neuromuscular stabilization (DNS) training can potentially improve the performance of adults with ID caused by weak motor skills due to a lac...

The Aberrant Behavior Checklist (ABC) was originally developed to evaluate interventions, and is a well-established assessment tool for challenging behaviours in people with intellectual disabilities and autistic people. However, whether the ABC displays longitudinal measurement invariance (i.e., whether it captures the same constructs over time) h...

Staff attitudes towards the sexuality of adults with mild intellectual and developmental disabilities may influence how the sexuality of service users is dealt with. The present study aimed to examine these attitudes in a Spanish context. A total of 102 staff members from service facilities for adults with intellectual and developmental disabilitie...

The digitalization of education has significantly transformed special education practices and the roles of Special Education Needs Coordinators (SENCOs). One area of rapid growth is the use of learning applications for children with severe intellectual disabilities, with many apps promising both new ways to engage and educational benefits. Despite...

Background Epilepsy is associated with increased risk for dementia, which adversely impacts the quality of life for patients and their families. Mild cognitive impairment (MCI) is the prodromal stage of dementia offering an important window for intervention. However, the epilepsy related risk factors for MCI are not well understood. The ongoing Mil...

Background Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FX...

Our research aims at better understanding what makes a text difficult to read for specific audiences with intellectual disabilities, more specifically, people who have limitations in cognitive functioning, such as reading and understanding skills, an IQ below 70, and challenges in conceptual domains. We introduce a scheme for the annotation of diff...

Background Understanding ICU nurses' experiences in caring for patients with intellectual developmental disabilities is crucial. Insights can inform supportive measures and training programs to enhance nurse well‐being and patient population‐specific outcomes. Objective The primary objective of this study was to explore and understand the lived ex...

Background More research is needed to understand psychopathology among parents of children with mental disorders in the years before and after the child is diagnosed. Here, we estimated the risk of mental disorders and psychotropic medication use in parents of children with versus without mental disorders and the temporal associations between child...

Previous research has shown that children and youth with disabilities have a higher risk of being victims of sexual violence than their peers without disabilities. However, robust evidence on sexual victimization processes remains scarce and often plagued by inconsistent findings. This review aimed to synthesize research on sexual violence of child...

Music and dance are the two art form that are inextricably tied together. This combined form of arts used enjoyed by every individual. This combined for of effectively uses for various purposes such as education, training and therapy. It is one of the important means used for various academic skills among different categories of school children. On...

Purpose Mate crime is a recently coined term in which a perpetrator befriends a vulnerable person to exploit them. The present study aims to investigate this phenomenon by examining mate crime victimization against individuals with intellectual disability in Sarawak, Malaysia. Design/methodology/approach Data was collected quantitatively from 180...

Recent advances in next generation sequencing (NGS) have positioned whole exome sequencing (WES) as an efficient first‐tier method in genetic diagnosis. However, despite the diagnostic yield of 35%–50% in intellectual disability (ID) many patients still remain undiagnosed due to inherent limitations and bioinformatic short‐comings. In this study, w...

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype–phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic. There...

Introduction: deforming oral habits have a multi-causal origin, are based on neuromuscular factors, and are the result of voluntary or involuntary activities. They can also be harmful or beneficial to the dental health of the infant depending on the type and age; however, their impact is negative in most cases.Method: a descriptive cross-sectional...

Standardized assessment tools are essential for informed, data-driven decision-making. Reading speedily is a crucial early skill that all students should have the opportunity to develop in inclusive classrooms. To facilitate classroom-based reading diagnostics in this area of reading, we developed a flash reading test that reliably measures the per...

Objective The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen...

Trabajar la resolución de conflictos con jóvenes con discapacidad intelectual favorece el desarrollo de habilidades sociales básicas que facilitan la igualdad de oportunidades dentro del mercado laboral. La muestra está constituida por estudiantes con discapacidad intelectual del programa formativo para la búsqueda de empleo, Todos somos campus, de...

Background and Aims Students with intellectual disability benefit from high‐quality instruction in reading and mathematics. Methods This Theoretical Paper outlines the need for effective, evidence‐based instructional practices for this population and the potential for observation research to inform such advancements. We report our systematic proce...

Intellectual disability is a neurodevelopmental disorder characterized by limitations in adaptive and intellectual functioning. Serious games (SG) incorporate learning and educational strategies that are commonly used in special education, and they have been proposed as assistive tools to people with developmental difficulties. ID-GAMING e-training...

Purpose: This research aims to present the effect of virtual reality (VR) exergames on the change of general mood in summer camp participants with Moderate Intellectual Disabilities (MID), while observing for the presence of variables such as physical or mental problems with understanding the exergames main task.Methods: The participants were divid...

The purpose of this study is to discuss pain and communication issues in youngsters with intellectual disabilities. The author also emphasizes the importance of patient-centred medicine, a thorough medical history and examination of the patient with ID for an early diagnosis of the condition and determining whether or not additional investigations...

Background Clinical trials for rare disorders have unique challenges due to low prevalence, patient phenotype variability and high expectations. These challenges are highlighted by our study on clonazepam in ARID1B patients, a common cause of intellectual disability. Previous studies on Arid1b-haploinsufficient mice showed positive effects of clona...

RESEARCH OBJECTIVE: This study aims to examine and describe practical activities developed through participant observation of both able-bodied and disabled youth involved in collaborative educational projects. THE RESEARCH PROBLEM AND METHODS: The research problem is articulated as follows: What elements of youth collaboration should be integrated...

Background/Objectives: Somatic and genetic mutations in glutathione peroxidases (GPxs), including GPx7 and GPx8, have been linked to intellectual disability, microcephaly, and various tumors. GPx7 and GPx8 evolved the latest among the GPx enzymes and are present in the endoplasmic reticulum. Although lacking a glutathione binding domain, GPx7 and G...

Craniopharyngioma (CP) and Rathke's cleft cyst (RCC) are both suprasellar lesions. They are sometimes difficult to distinguish due to their similar findings. We report a case of papillary craniopharyngioma (pCP) with the clinical findings suggesting RCC. A 42-year-old female with intellectual disability presented to our hospital with severe visual...

The importance of the problem under analysis is in consequence of increasing role of emotional intelligence in the process of socialization. Therefore, its development becomes particularly important in the adaptation process of children with disabilities. Computer technologies are actively used in child training and skills formation in the modern s...

Osobe s intelektualnom ometenošću (IO) ispoljavaju teškoće u svim domenama svakodnevnog funkcioniranja i kao način savladavanja nekih od tih deficita može se koristiti asistivna tehnologija (AT). Cilj ovog rada je napraviti pregled istraživanja provedenih u cilju ispitivanja stavova i motivacije defektologa prema upotrebi AT, kao i onih usmjerenih...

Second-order mental state attribution in two groups of children with non-specific intellectual disability andDown syndrome was investigated. The children were compared to overall mental age-matched group of typicallydeveloping children. The aim of the present study was to determine the specificity of the theory of mind deficitto different groups of...

Tuberous sclerosis or Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant and progressive neurocutaneous disorder involves multiple organs mainly brain, heart, kidney, lung, liver, skin and eye. The diagnosis is typically made clinically. Here, we are reporting a case of TSC presented mainly with dermatologic findings and only...

FMR1 (Fragile X messenger ribonucleoprotein 1), located on the X-chromosome, encodes the multi-functional FMR1 protein (FMRP), critical to brain development and function. Trinucleotide CGG repeat expansions at this locus cause a range of neurological disorders, collectively referred to as Fragile X-related conditions. The most well-known of these i...

The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure con...

CHAMP1 (chromosome alignment-maintaining phosphoprotein 1) plays a role in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR). The CHAMP1 gene is one of the genes mutated in individuals with intellectual disability. The majority of the mutations are premature termination codon (PTC) mutations, while missense mutations ha...

Families with people with intellectual disabilities often face certain problems and difficulties related to their mental health. They are often exposed to different levels of stress, feelings of isolation, shame, sadness, depression, helplessness and scarce physical, family and social functionality, which usually arise from the need for the care th...

Background: The COVID-19 pandemic triggered a rapid shift to telehealth and reshaped healthcare delivery worldwide. In Qatar, telehealth has emerged as a critical tool for ensuring uninterrupted care while minimizing the spread of viruses. However, its long-term efficacy, particularly in mental health services, is still poorly understood. The aim o...

ResumoO artigo descreve uma experiência de formação continuada direcionada a educadores museais, profissionais de museus, docentes da educação básica e estudantes de ensino superior no Museu da Geodiversidade, vinculado ao Instituto de Geociências da Universidade Federal do Rio de Janeiro. Utilizando um levantamento bibliográfico e metodologia qual...

The article discusses the development and challenges of the easy to read (EtR) standard in Poland. The research described in the article aims to evaluate the effectiveness of EtR texts for students with special communication needs, particularly those who are deaf or have aphasia. Conducted as a pilot study, it focuses on whether selected literary t...

The Objective of the Research: This research focuses on the pivotal role of utilizing eye-gaze assistive technology (EGAT) in diagnosing individuals with profound intellectual and multiple disabilities (PIMD). The study included six children aged 5–12 with PIMD who do not use speech. The primary aim was twofold: first, to assess and validate diagno...