Intellectual disabilities

Introduction Enhanced models for assessing cognitive function in the neonatal period are imperative in higher animals. Postnatal motor deficits, characteristic of cerebral palsy, emerge in newborn kits within our prenatal-rabbit model of hypoxia-ischemia (HI). In humans, prenatal HI leads to intellectual disability and cerebral palsy. In a study examining cognitive function in newborn rabbits, we explored several questions. Is there a distinction between conditioned and unconditioned kits? Can the kits discern the human face or the lab coat? Do motorically-normal kits, born after prenatal HI, exhibit cognitive deficits? Methods The conditioning protocol was randomly assigned to kits from each litter...

BACKGROUND: The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures. METHOD: Clinical characteristics of the patient were collected. Exome sequencing was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region...

Persons with profound intellectual and multiple disabilities (PIMD) have pervasive support needs, which are often managed by their families. By being resilient and positively adapting to this challenge, families may maintain a positive family quality of life (FQOL). We therefore aimed to understand how families with a child with PIMD experience their family resilience, and if and how it affects their FQOL. Participants were 64 parents of a person with PIMD from 44 families. Total family resilience, as well as most subscales received positive scores, and also had a significant positive effect on FQOL...

Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs are interdisciplinary, graduate-level training programs that seek to promote improved outcomes for individuals with disabilities and their families. Many of these programs include individuals with disabilities as members of the self-advocacy discipline. In this study, 10 self-advocate trainees were interviewed to provide insight into the value of including self-advocates in training and the kinds of accommodations and supports that facilitated their success and inclusion...

While there are many benefits to healthy nutrition, adults with intellectual disability often have poor nutrition habits. The purpose of this pilot study was to examine the use of a nutrition app and self-management intervention to increase awareness of healthy nutrition choices for adults with intellectual disability. Data was gathered on the effectiveness of the intervention and social validity of intervention components. Through a single-case multiple-baseline across participants design, the mobile nutrition app with self-management intervention was effective in increasing awareness of healthier nutrition items for three adults with an intellectual disability...

The impact of long-term services and supports on the quality of life of adults with intellectual and developmental disabilities (IDD) is not well understood given the highly complex nature of researching this topic. To support future research addressing this topic, we conducted a systematic literature review of studies addressing outcomes of adults with IDD receiving long-term services and supports. Results of this review describe current outcomes for adults with IDD who receive long-term services and supports and can be used to inform program evaluation, policy development, and future research...

The Chinese government initiated a pilot program to implement supported employment for people with disabilities in 2014. Since then, policies have been enacted to promote supported employment. This study explored how practitioners understand and implement supported employment for people with disabilities in China. It was found that non-governmental service organizations have mainly implemented supported employment with financial support provided by local disabled persons' federations; without a governmental guide, the small-scale folk practice presented many difficulties and unstable factors...

BACKGROUND: Compared with the general population, adults with an intellectual developmental disorder (IDD) are more likely to develop mental health problems and to receive high levels of psychotropic medication, particularly antipsychotics. The emotional development (ED) approach may help to better understand the nature of challenging behaviour (CB) and tailor treatment and support accordingly. The aim of this retrospective study was to investigate the impact of the ED approach on the prescription of psychotropic medication during inpatient psychiatric treatment...

BACKGROUND: Psychiatric disorders are among the leading contributors to disability in India and worldwide. The pattern, prevalence, and distribution of psychiatric disorders in the country and its regions need to be assessed to facilitate early diagnosis and treatment. No study on the epidemiology of psychiatric disorders has been conducted in the Chhattisgarh state. This paper, as part of the National Mental Health Survey (NMHS), discusses the prevalence and pattern of psychiatric disorders in Chhattisgarh state...

BACKGROUND: Chronic hepatic encephalopathy (CHE) has been reported both in patients with congenital porto-systemic shunts (CPSS) and chronic liver disease. CHE is difficult to recognize in children as there is no clear definition and its manifestations are highly variable. CHE is associated with variations in brain volumes and metabolites that have already been demonstrated using 1.5-3T MRI systems. However, the in-depth study of brain metabolism requires the high spectral resolution of high magnetic fields...

We identified the PACS2 gene responsible for the multifunctional sorting protein that play a role in nuclear gene expression as well as pathway traffic regulation. Diseases associated with PACS2 include early infantile epileptic encephalopathy (EIEE66), alacrima, achalasia, and mental retardation syndrome. Whole exome sequencing (WES) technique was used for the identification of variants that may lead to the disease. We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy...

People with intellectual disability (ID) are often subject to motor impairments such as altered gait. As gait is a task involving motor and perceptive dimensions, perceptual-motor training is an efficient rehabilitation approach to reduce the risk of falls which grows with age. Virtual, augmented, and mixed reality are recent tools which enable interaction with 3D elements at different levels of immersion and interaction. In view of the countless possibilities that this opens, their use for therapeutic purposes is constantly increasing...

Food neophobia (FN), the fear of sampling new foods, can have a significant impact on children's eating habits. Children with phenylketonuria (PKU), a hereditary condition that inhibits the body's capacity to metabolize phenylalanine, should take this attitude with caution. Patients with PKU must follow a rigorous phenylalanine (Phe)-restricted diet to avoid brain malfunction that can include intellectual disability, seizures, and behavioral difficulties. The novelty of our work stems from the fact that we explored the origins of this incorrect intake pattern, which exacerbates PKU patients' already fragile health...

Mitochondria are involved in multiple aspects of neurodevelopmental processes and play a major role in the pathogenetic mechanisms leading to neuro-degenerative diseases. Fragile-X-related disorders (FXDs) are genetic conditions that occur due to the dynamic expansion of CGG repeats of the FMR1 gene encoding for the RNA-binding protein FMRP, particularly expressed in the brain. This gene expansion can lead to premutation (PM, 56-200 CGGs), full mutation (FM, >200 CGGs), or unmethylated FM (UFM), resulting in neurodegeneration, neurodevelopmental disorders, or no apparent intellectual disability, respectively...

Background : In temporal lobe epilepsy (TLE), estimating the potential risk of language dysfunction before surgery is a necessary procedure. Functional MRI (fMRI) is considered the most useful to determine language lateralization noninvasively. However, there are no standardized language fMRI protocols, and several issues remain unresolved. In particular, the language tasks normally used are predominantly active paradigms that require the overt participation of patients, making assessment difficult for pediatric patients or patients with intellectual disabilities...

This study investigates the impact of experienced contact on prejudiced attitudes towards individuals with intellectual disabilities (IDs), examining beliefs in a just world (BJW) and social dominance orientation (SDO) as potential serial mediators. Data were collected from 224 university students (M = 23.02, SD = 2.48). Path analysis modelling assessed the structural relationships between the study variables. The findings revealed that experienced contact was negatively and significantly associated with BJW and SDO...

Most of the studies on the cost of intellectual disability are limited to a healthcare perspective or cohorts composed of individuals where the etiology of the condition is a mixture of genetic and non-genetic factors. When used in policy development, these can impact the decisions made on the optimal allocation of resources. In our study, we have developed a static microsimulation model to estimate the healthcare, societal, and lifetime cost of individuals with familial intellectual disability, an inheritable form of the condition, to families and government...

We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities...

The practice of physical activity, exercise and sport has many benefits for the general population, but studies on the population with intellectual and developmental disabilities (IDD) are scarce and inconclusive. The aim of this systematic review is to analyze the state of the art on the role of physical activity, exercise and sport in the quality of life and well-being of people with IDD, seeking to understand the current panorama in this area and provide answers to these questions. The research was carried out between July and October 2023 using three databases: PubMed, Web of Science and Scopus...

Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 ( FMR1 ) gene due to expansion of a 5'-non-coding trinucleotide (CGG) element beyond 200 repeats (full mutation). To better understand the complex relationships among FMR1 allelotype, methylation status, mRNA expression, and FMR1 protein (FMRP) levels, FMRP was quantified in peripheral blood mononuclear cells for a large cohort of FXS ( n = 154) and control ( n = 139) individuals using time-resolved fluorescence resonance energy transfer...