Intellectual disabilities

PURPOSE: The purpose of this paper is to present to a community of behavior specialists, an overview of the subdiscipline of Organizational Behavior Management (OBM) in three aspects. First, OBM is a sub-branch of the larger field of Applied Behavior Analysis. It also has two other aspects: it can complement the traditional set of skills useful to behavior analysts or be one of the alternative careers for them. VIEWS: Behavior specialists predominantly, and especially in Poland, teach populations with special needs...

Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase activity toward phosphoinositides (PIs). Mutations in INPP5K are associated with autosomal recessive congenital muscular dystrophy with cataracts and intellectual disability (MDCCAID). Notably, muscular dystrophy is characterized by the hypoglycosylation of dystroglycan. Thus, far, the underlying mechanisms are only partially understood. In this study, we show that INPP5K expression increases during brain development...

MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from mutations in the SERAC1 gene. This case report explores the clinical presentation, diagnostic challenges, and genetic findings of an 11-year-old boy with MEGDEL syndrome at a tertiary care center in Saudi Arabia. The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures. Diagnostic evaluation at 15 months revealed 3-methylglutaconic aciduria, and subsequent genetic testing through whole exome sequencing confirmed a rare homozygous deletion variant in the SERAC1 gene...

BACKGROUND: Avoidant restrictive food intake disorder (ARFID) is a feeding and eating disorder, characterized by limited variety and/or quantity of food intake impacting physical health and psychosocial functioning. Children with ARFID often present with a range of psychiatric and somatic symptoms, and therefore consult various pediatric subspecialties; large-scale studies mapping comorbidities are however lacking. To characterize health care needs of people with ARFID, we systematically investigated ARFID-related mental and somatic conditions in 616 children with ARFID and >30,000 children without ARFID...

BACKGROUND: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. CASE PRESENTATION: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing...

Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment...

INTRODUCTION: Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis complex (TSC)-associated epilepsy are rare conditions associated with severe childhood-onset epilepsy. Caregivers play a critical role in the patients' care and may experience significant psychosocial and socioeconomic burden. This cross-sectional study determined the burden of caring for patients with these rare epilepsy conditions in Japan. METHODS: A quantitative online survey was used to assess patients' and caregivers' characteristics and the caregivers' emotional state, among others...

Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection...

BACKGROUND: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship. METHODS: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study...

CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome (MKHK). To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with variants affecting CBP (n=71) or p300 (n=11) (NP_004371...

OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development...

OBJECTIVES: Excess weight is highly prevalent in secure (forensic) mental health services and impacts negatively on patients' physical and mental health. This study sought to identify the key influences and challenges around weight management in UK adult secure mental health settings. DESIGN: Qualitative focused ethnography. Analysis of written fieldnotes was undertaken through a combined inductive and deductive approach, informed by thematic analysis. SETTING: Low secure male mental health ward and associated patient activities and events, in a National Health Service Trust delivering mental health, intellectual disability and neurorehabilitation services in the UK...

BACKGROUND: An observer-rated screening questionnaire for dementia for people with intellectual disabilities (ID), DSQIID, was developed in the UK. So far, the German version has not yet been validated in adults with ID. AIMS/METHODS: We validated a German version of DSQIID (DSQIID-G) among adults with ID attending a German clinic. PROCEDURES/OUTCOMES: DSQIID-G was completed by the caregivers of 104 adults with ID at baseline (T1), 94 at six months (T2) and 83 at 12 months (T3)...

BACKGROUND: Individuals with developmental disabilities (DD) experience increased rates of emotional and behavioral crises that necessitate assessment and intervention. Psychiatric disorders can contribute to crises; however, screening measures developed for the general population are inadequate for those with DD. Medical conditions can exacerbate crises and merit evaluation. Screening tools using checklist formats, even when designed for DD, are too limited in depth and scope for crisis assessments...

BACKGROUND: Students with intellectual and developmental disabilities (IDD) were disproportionately impacted by the COVID-19 pandemic. This study's goal was to assess the effectiveness of 2 messaging strategies on participation in SARS-CoV-2 weekly testing. METHODS: Cluster randomized trials were conducted at 2 school systems, the special school district (SSD) and Kennedy Krieger Institute (Kennedy) to assess messaging strategies, general versus enhanced, to increase weekly screening for SARS-CoV-2...

OBJECTIVES: This study aimed to investigate the clinical, radiological, and genetic features of POLR3-related leukodystrophy caused by mutations in POLR3A or POLR1C . METHODS: Fourteen Chinese patients with POLR3-related leukodystrophy were enrolled in this cross-sectional observational study. The clinical manifestations, brain MRI and genetic tests of the patients were evaluated. RESULTS: Thirteen patients had biallelic variants in POLR3A (92...

A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions...

CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. Patients with CDD frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD...

BACKGROUND: People with intellectual and developmental disabilities (IDD) were disproportionately affected by the COVID-19 pandemic. Predicting COVID-19 infection has been difficult. OBJECTIVE: We sought to address two research questions in this study: 1) to assess the overall utility of a machine learning model to predict COVID-19 diagnosis for people with IDD, and 2) to determine the primary predictors of COVID-19 diagnosis in a random sample of Home and Community Based Services users in one state...

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