Intellectual And Disability

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'...

BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice...

BACKGROUND: While barriers to participation in physical activity are well documented, there is no consolidated evidence on strategies promoting participation of people with intellectual disability in physical activities. METHODS: We conducted a scoping review to examine initiatives used to facilitate the inclusion of people with intellectual disability in community-based sporting and recreation activities. We searched Medline, Embase, CINAHL+ and PsycINFO for articles published in English between 2000 and 2022...

BACKGROUND: The Reducing Disability in Alzheimer's Disease in Kansas City (RDAD-KC) intervention has been shown to improve the health of individuals with dementia and caregiver dyads. This manuscript reports the results of implementing the RDAD among individuals with intellectual disabilities and caregiver dyads. METHODS: Nine community agencies deployed the 12-week intervention. We assessed changes in individuals with intellectual disabilities' behavioural symptom related severity and physical activity, and caregivers' behavioural symptom-related distress, unmet needs, and caregiver strain...

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates...

BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with RARS1-related disease and determine probable genotype-phenotype relationships. METHODS: We identified three patients with RARS1 homozygous pathogenic variants. Furthermore, we performed a comprehensive review of the literature...

The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential...

ZNF143 is a sequence-specific DNA binding protein that regulates the expression of protein-coding genes and small RNA molecules. In humans, ZNF143 interacts with HCFC1, a transcriptional cofactor, to regulate the expression of downstream target genes, including MMACHC , which encodes an enzyme involved in cobalamin ( cbl ) metabolism. Mutations in HCFC1 or ZNF143 cause an inborn error of cobalamin metabolism characterized by abnormal cbl metabolism, intellectual disability, seizures, and mild to moderate craniofacial abnormalities...

KEY CLINICAL MESSAGE: Foreign body ingestion is common in pediatric age group however can be found in any age group with intellectual disability and neurodevelopmental delay. There is usually a delay in presentation and interventions following foreign body ingestion in patients with neurodevelopmental delay, leading to increased morbidity, mortality, and complications owing to inability of such patients giving relevant history. Most ingested foreign bodies naturally pass through the digestive tract without untoward effects...

BACKGROUND: Post-traumatic stress disorder (PTSD) is common in adults with intellectual disabilities. Often there are additional disorders such as substance use, mood and anxiety disorders. The current study focuses on the feasibility and initial efficacy of prolonged exposure (PE) for PTSD in adults with mild intellectual disabilities. The secondary effect of PE on additional mood, anxiety and substance use disorders is also examined. METHODS: A single case experimental design (N = 12) with an A (baseline)-B (intervention) phase including a follow-up measurement after 3 months was conducted...