Intellectual disabilities

This study applied the functional near-infrared spectroscopy (fNIRS) to investigate frontal activity in autism when performing verbal fluency test and emotion recall task. We recruited 32 autistic adults without intellectual disability and 30 typically-developing controls (TDC). Prefrontal hemodynamic changes were evaluated by fNIRS when the participants performed the verbal fluency test and emotion recall task. fNIRS signals in the prefrontal cortex were compared between autism and TDC. Compared to TDC, autistic adults showed comparable performance on the verbal fluency test but exhibited lower frontal activity on the vegetable category...

How Does the Kaufman Assessment Battery for Children-II Stand the Test of Clinical Practice? Findings in 7- To 12-Year-Old Children Reliability and validity of the KABC-II were investigated in 646 children aged 7 to 12 years who had been assessed in four social pediatric centers and one pediatric clinic in Germany due to developmental, behavioral, or emotional disorders.The reliability of the global scales Fluid-Crystallized-Index (FCI) and Mental Processing Index (MPI) proved to be very high in all age groups, with values ≥ ...

BACKGROUND: Constipation is overrepresented in people with intellectual disabilities. Around 40% of people with intellectual disabilities who died prematurely were prescribed laxatives. A quarter of people with intellectual disabilities are said to be on laxatives. There are concerns that prescribing is not always effective and appropriate. There are currently no prescribing guidelines specific to this population. AIMS: To develop guidelines to support clinicians with their decision-making when prescribing laxatives to people with intellectual disabilities...

BACKGROUND AND AIMS: Soil-transmitted helminths are one of the most prevalent causes of both intellectual and physical disability in the world. Albendazole (ALB) is a drug recommended for mass treatment of the high burden of soil-transmitted helminths in schoolchildren, particularly in developing countries. However, some researchers have reported that the efficacy of albedazole against soil-transmitted helminths is inconsistent. Monitoring the programs is crucial to evaluating the effectiveness of 400 mg of ALB against soil-transmitted helminths, as well as any changes in its therapeutic efficacy...

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes...

Pathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay. There are no treatments to improve neurodevelopmental outcomes for creatine transporter deficiency (CTD). In this spotlight, we summarize recent advances in innovative molecules to treat CTD, with a focus on dodecyl creatine ester, the most promising drug candidate...

Based on the functional assessment concept and embodied assessment requirements, the present study aimed to design and develop an assessment tool for children with intellectual disabilities with the help of somatosensory interactive (SI) technology. The sample in this study consisted of 73 children with intellectual disabilities and 70 children with typical development. Data were collected through three SI tasks, four traditional executive function tasks, and user experience interviews to analyse the effectiveness of the SI assessment tool...

BACKGROUND: People with intellectual and developmental disabilities (IDD) in the US, especially those living in group homes, experienced comparatively higher Covid-19 case/case fatality rates than the general population during the first year of the pandemic. There is no information about the patterns of case/case fatality rates during this time. OBJECTIVE: This study compared Covid-19 case/case fatality rates among people with IDD living in residential group homes to the general population across the first year of the pandemic in New York State (NYS)...

BACKGROUND: Given the anticipated increase in ambient temperature due to climate change, the hazardous effects of heat on health have been extensively studied; however, its impact on people with intellectual disability, autism, and mental illness is largely unknown. We aimed to estimate the association between heat and hospitalisation through the emergency department (ED) among people with these mental disorders. METHODS: In this nationwide study, we used data from the National Health Insurance Database (NHID) of the National Health Insurance Service, the single universal insurer in South Korea, the claims data for which is based on the ICD-10...

Rare disruptions of the transcription factor FoxP1 are implicated in a human neurodevelopmental disorder characterised by autism and/or intellectual disability with prominent problems in speech and language abilities. Avian orthologues of this transcription factor are evolutionarily conserved and highly expressed in specific regions of songbird brains, including areas associated with vocal production learning and auditory perception. Here, we investigated possible contributions of FoxP1 to song discrimination and auditory perception in juvenile and adult female zebra finches...

Myoclonus-dystonia syndrome (MDS) presents with both rapid myoclonus and dystonia, which is caused by mutations in the sarcoglycan (SGCE) gene. However, its complications and management remain unclear. Here, we report a case involving a girl with MDS due to a 7q21.13-q21.3 microdeletion complicated by early-onset multiple cerebral cavernous malformations (CCMs). The patient presented with myoclonus and dystonia at two and eight years of age, respectively. In addition to MDS, the patient developed growth hormone (GH) deficiency and mild intellectual disability...

BACKGROUND: Vocational programmes run by teachers in the special needs school context can play a significant role in the vocational development of learners with severe intellectual disability (SID). This study aimed to answer the question 'what are the challenges faced by teachers in the implementation of vocational programmes in selected public special needs schools for learners with SID in the Metropolitan (Metro) District within the City of Cape Town?' OBJECTIVES: The objectives were to describe the challenges as perceived by participants, to highlight common and contrasting challenges in the different schools and to share recommendations on support needed...

BACKGROUND: Women charged with violent offences may be referred by courts for forensic psychiatric assessment to determine whether mental disorder or intellectual disability impacts their fitness to stand trial and/or criminal responsibility. The profile of these women is a poorly researched area in South Africa. AIM: This study examined the socio-demographic, offence-related, and clinical profile of South African women charged with violent offences referred for forensic assessment...

Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant testing in mild cases is necessary to provide information on prognosis and risk of occurrence. In this study, we report two sibling patients who were 5 years 9 months old and 3 years 3 months old and presented to the hospital due to developmental delay...

BACKGROUND: Having a disabled sibling can be a source of extremely important and enriching experiences that foster the development of social and emotional competences, as well as broadening the child's perspective and knowledge. On the other hand, it also poses many challenges for the siblings, especially in adolescence. Thus, the aim of the proposed project is to investigate the specificity of the growing up process in young people with disabled siblings. PARTICIPANTS AND PROCEDURE: A total of 160 dyads (320 participants) - an adolescent and one of his/her parents - will take part in this cross-sectional case-control study...

INTRODUCTION: People with intellectual disability experience poorer health outcomes compared with the general population, partly due to the difficulties of accessing preventive care in primary care settings. There is good evidence that structured annual health assessments can enhance quality of care for people with intellectual disability, and their use has become recommended policy in several high-income countries. However, uptake remains low. The Theoretical Domains Framework (TDF) offers a conceptual structure for understanding barriers to implementation and has been usefully applied to inform implementation of health assessments for other high-need groups, but not for people with intellectual disability...

OBJECTIVE: : Intramuscular medications are widely used to treat psychomotor agitation (PMA) in uncooperative patients. We evaluated knowledge and attitude towards guidelines and the prescribing patterns in a sample of Italian psychiatrists. METHODS: : A structured 28-item questionnaire was submitted to psychiatrists of Italian Departments of Mental Health. We considered 8 clinical scenarios of PMA. For comparing two qualitative variables Chi-square tests were performed...

The DHCR7 enzyme converts 7-DHC into cholesterol. Mutations in DHCR7 can block cholesterol production, leading to abnormal accumulation of 7-DHC and causing Smith-Lemli-Opitz syndrome (SLOS). SLOS is an autosomal recessive disorder characterized by multiple malformations, including microcephaly, intellectual disability, behavior reminiscent of autism, sleep disturbances, and attention-deficit/hyperactivity disorder (ADHD)-like hyperactivity. Although 7-DHC affects neuronal differentiation in ex vivo experiments, the precise mechanism of SLOS remains unclear...

This study explored the effectiveness of digital story interventions in improving early math skills in kindergarten children with mild intellectual disabilities. Digital stories are multimedia narratives that combine text, images, and audio to enhance learning experience. This experimental study used a pretest-posttest control group design. The intervention group consisted of 15 children who participated in an 8-week digital story intervention targeting early math skills. A matched control group was used to control for sex differences...

BACKGROUND: Research into befriending for people with intellectual disabilities is limited. This study aimed to explore the impact, mechanisms of change, and limitations of a befriending scheme for adults with intellectual disabilities and/or autism. METHODS: Participants were recruited using convenience sampling. Thirteen individuals with intellectual disabilities and/or autism were interviewed and data thematically analysed. RESULTS: Four themes were generated: 'Something fun for me'; 'A good connection'; 'Increasing independence'; and 'A life less quiet'...