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Nurs Forum 2022 Jun 25. Epub 2022 Jun 25.

School of Nursing, Purdue University, West Lafayette, Indiana, USA.

Background: Individuals diagnosed with autism spectrum disorder (ASD) without intellectual disability (ID) may have advanced mental reasoning; however, symptomology may vary within the population. Possible symptomology includes communication problems, difficulty relating to people, things, and events, and sensory sensitivity. Current concepts in determining health behavior are not applicable to the ASD without ID population. Read More

Seizure 2022 Jun 17;100:44-50. Epub 2022 Jun 17.

Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.

Purpose: Lennox-Gastaut Syndrome (SLG) is a severe form of childhood refractory epilepsy. Only one pilot study has been conducted using cathodal transcranial direct current stimulation (c-tDCs; 2mAx30minx5days) in LGS with promising results (-99% seizure reduction at 5 days). Our aim was to explore and replicate the efficacy and safety of 10 daily sessions of c-tDCs in SLG. Read More

Brain Tumor Pathol 2022 Jun 24. Epub 2022 Jun 24.

Department of Neurosurgery, Kyoto University Graduate School of Medicine, 54 Kawahara-cho Shogoin Sakyo-ku, Kyoto, 606-8507, Japan.

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities in SMARCB1 located in 22q11.2. We report a case of AT/RT associated with Phelan-McDermid syndrome (PMS) characterized by congenital developmental disorder, mental retardation, and ring chromosome 22 with 22q13. Read More

West Afr J Med 2022 Jun;39(6):603-608

Department of Community Medicine, College of Medical Sciences, Abubakar Tafawa Balewa University, Bauchi, Nigeria.

Background: Congenital hypothyroidism is one of the most common preventable causes of mental retardation and clinical manifestations are often subtle or absent at birth and hence the need for screening. Implementation of newborn screening requires local normative values.

Objectives: To determine the normative values of cord Thyroid Stimulating Hormone (TSH) among term babies in Bauchi, Northeast Nigeria and compare it with that from other centers in Nigeria. Read More

J Paediatr Child Health 2022 Jun 24. Epub 2022 Jun 24.

College of Public Health, University of South Florida, Tampa, Florida, United States.

Aim: Adolescents have a high prevalence of obesity and neurodevelopmental and mental health co-occurring conditions. This study examined the association between obesity and several co-occurring conditions - autism spectrum disorder (ASD); intellectual disability; learning disability; stuttering, stammering or other speech problems; developmental delay; attention-deficit hyperactivity disorder; epilepsy or seizure disorder; cerebral palsy; depression; anxiety; and Tourette Syndrome - in adolescents aged 10-17 years (n = 26 266) using 2017-2018 National Survey of Children's Health data.

Methods: This cross-sectional study used 2017-2018 National Survey of Children's Health data (n = 27 328); χ tests were conducted to compare the prevalence of obesity and several co-occurring conditions. Read More

Mol Genet Genomic Med 2022 Jun 23:e2003. Epub 2022 Jun 23.

Department of Neonatology, Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.

Background: A range of clinical features have been confirmed with heterozygous mutations in Beta Tubulin (TUBB), including skin creases, facial deformities, abnormal cerebral structures, and intellectual disability, and were defined as Circumferential Skin Creases Kunze type (CSC-KT).

Methods: Clinical information was obtained retrospectively on a neonate hospitalized in the Neonatal Intensive Care Unit, Wuhan Children's Hospital. Genomic DNA was extracted from circulating leukocytes of the proband according to standard procedures. Read More

S Afr J Psychiatr 2022 31;28:1807. Epub 2022 May 31.

Department of Biostatistics, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa.

Background: Sexual assault in South Africa has reached alarming proportions. Mental illness amongst offenders accused of rape is one of the complicating factors.

Aim: To describe the sociodemographic, clinical and forensic profile of alleged offenders accused of rape referred to a South African tertiary public psychiatric hospital for forensic evaluation, as well as describe the profile of the reported victims. Read More

Front Neurosci 2022 7;16:909669. Epub 2022 Jun 7.

UK Dementia Research Institute at University College London, London, United Kingdom.

There are an estimated 6 million people with Down syndrome (DS) worldwide. In developed countries, the vast majority of these individuals will develop Alzheimer's disease neuropathology characterized by the accumulation of amyloid-β (Aβ) plaques and tau neurofibrillary tangles within the brain, which leads to the early onset of dementia (AD-DS) and reduced life-expectancy. The mean age of onset of clinical dementia is ~55 years and by the age of 80, approaching 100% of individuals with DS will have a dementia diagnosis. Read More

Br J Cardiol 2021 30;28(4):49. Epub 2021 Nov 30.

Consultant Psychiatrist Haringey Learning Disability Partnership, Barnet, Enfield and Haringey Mental Health Trust, River Park House, Second Floor, 225 High Road, Wood Green, London, N22 8HQ.

We performed a single-centre study to assess the risk of cardiovascular disease (CVD) in psychiatry outpatients with intellectual disability (ID) using the QRISK-3 score. There were 143 patients known to the ID psychiatry clinic enrolled. Of these, 28 (19. Read More

Nutrients 2022 Jun 8;14(12). Epub 2022 Jun 8.

Institute for Experimental Endocrinology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.

Neurodevelopmental diseases are often associated with other comorbidities, especially inflammatory processes. The disease may affect the trace element (TE) status, which in turn may affect disease severity and progression. Selenium (Se) is an essential TE required for the biosynthesis of selenoproteins including the transporter selenoprotein P (SELENOP) and extracellular glutathione peroxidase (GPX3). Read More

J Pers Med 2022 Jun 20;12(6). Epub 2022 Jun 20.

Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan 33343, Taiwan.

Intellectual disability (ID) and autism spectrum disorder (ASD) are complex neurodevelopmental disorders with high heritability. To search for the genetic deficits in two siblings affected with ID and ASD in a family, we first performed a genome-wide copy number variation (CNV) analysis using chromosomal microarray analysis (CMA). We found a 3. Read More

J Pers Med 2022 May 27;12(6). Epub 2022 May 27.

Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders and occurs in all racial, ethnic, and socioeconomic groups. Cutting-edge technologies are contributing to understanding genetic underpinnings in ASD. The reported patient is a 32-year-old male and as an infant was noted to have microcephaly, hypospadias, pulmonary vascular anomaly, and small stature. Read More

Int J Mol Sci 2022 Jun 9;23(12). Epub 2022 Jun 9.

Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.

Intellectual disability (ID) is characterized by deficits in conceptual, social and practical domains. ID can be caused by both genetic defects and environmental factors and is extremely heterogeneous, which complicates the diagnosis as well as the deciphering of the underlying pathways. Multiple scientific breakthroughs during the past decades have enabled the development of novel ID models. Read More

Int J Environ Res Public Health 2022 Jun 13;19(12). Epub 2022 Jun 13.

Department of Family Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian 16150, Kelantan, Malaysia.

Sex education (SE) is still a controversial and sensitive topic in Malaysia. Thus, individuals with intellectual disability receive less information about SE formally as Malaysian culture believes that students with disabilities should be shielded from everything connected to sexuality owing to their paucity of maturity and intellectual comprehension of the topic. Due to that reason, non-formal education by the parent is very important to fill that needful gap. Read More

Int J Environ Res Public Health 2022 Jun 13;19(12). Epub 2022 Jun 13.

Laboratory of Psychological and Pedagogical Tests, Czarnieckiego 5A, 80-239 Gdańsk, Poland.

Mild Intellectual Disability (MID) is a neurodevelopmental disorder that begins in childhood and is characterized by limitations in intellectual functioning (IQ = 55-69) and adaptive behavior that manifests in everyday living. In addition to these specific criteria, clinical practice shows that the population of children with MID has heterogeneous deficits in cognitive functioning. Thus, the aim of this study was to identify groups of homogenous cognitive profiles within a heterogeneous population of students with MID. Read More

Brain Sci 2022 Jun 17;12(6). Epub 2022 Jun 17.

Center for Dementia Research, Nathan Kline Institute for Psychiatric Research, Orangeburg, NY 10962, USA.

An embryo's in-utero exposure to ethanol due to a mother's alcohol drinking results in a range of deficits in the child that are collectively termed fetal alcohol spectrum disorders (FASDs). Prenatal ethanol exposure is one of the leading causes of preventable intellectual disability. Its neurobehavioral underpinnings warrant systematic research. Read More

Brain Sci 2022 Jun 15;12(6). Epub 2022 Jun 15.

Sussex Neuroscience, School of Life Sciences, University of Sussex, Brighton BN1 9QG, UK.

mutations are rare but often associated with patients having severe neurodevelopmental disorders with varying range of symptoms such as intellectual disability, developmental delay and epilepsy. Patient symptoms likely arise from mutations disturbing the role that the encoded NMDA receptor subunit, GluN2B, plays at neuronal connections in the developing nervous system. In this study, we investigated the cell-autonomous effects of putative gain- (GoF) and loss-of-function (LoF) missense mutations on excitatory synapses onto CA1 pyramidal neurons in organotypic hippocampal slices. Read More

Children (Basel) 2022 Jun 20;9(6). Epub 2022 Jun 20.

School of Creative Arts Therapies, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa 3498838, Israel.

The quality of the interaction between mothers and their children with an Intellectual Disability (ID) plays a crucial role in their development and in particular during adolescence. This qualitative study was designed to provide a better understanding of aspects of the relationships between mothers and their adolescents with ID through an art-based tool, the Joint Painting Procedure. The qualitative analysis of six dyads of mothers and adolescents with severe, moderate and mild ID was based on the principles of narrative and phenomenological inquiry. Read More

Cancers (Basel) 2022 Jun 8;14(12). Epub 2022 Jun 8.

Department of Neuroscience, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

5-aminolevulinic acid (5-ALA)-induced PpIX fluorescence is used by neurosurgeons to identify the tumor cells of high-grade gliomas during operation. However, the issue of whether 5-ALA-induced PpIX fluorescence consistently stains all the tumor cells is still debated. Here, we assessed the cytoplasmatic signal of 5-ALA by fluorescence microscopy in a series of human gliomas. Read More

Biomedicines 2022 Jun 10;10(6). Epub 2022 Jun 10.

CNRS, UMR 8251, Biologie Fonctionnelle et Adaptative (BFA), Université Paris Cité, 75013 Paris, France.

Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk of developing early onset Alzheimer's disease dementia. DYRK1A, a proline-directed serine/threonine kinase, whose gene is located on chromosome 21, has recently emerged as a promising plasma biomarker in patients with sporadic Alzheimer's disease (AD). Read More

Disabil Health J 2022 May 22:101343. Epub 2022 May 22.

The Lurie Institute for Disability Policy, The Heller School for Social Policy and Management, Brandeis University, 415 South Street, Waltham, MA, 02453, USA.

Background: As recent as the mid-twentieth century, eugenics practices on women with intellectual and developmental disabilities were commonplace. Deinstitutionalization has led to an increasing proportion of women with intellectual and developmental disabilities living in the community and becoming pregnant. Previous research has reported barriers to maternal health care (i. Read More

In Vivo 2022 Jul-Aug;36(4):1694-1702

Department of Medical Biology, Yeditepe University School of Medicine, Istanbul, Turkey.

Background/aim: The most frequent and dangerous kind of primary brain tumor is glioblastoma multiforme (GBM). The survival rates associated with GBM are very short and molecular markers for predicting survival are needed. The aim of our study was to evaluate isocitrate dehydrogenase 1 and 2 (IDH1, IDH2), telomerase reverse transcriptase (TERT), O-6- methylguanine-DNA methyltransferase (MGMT) and alpha-thalassemia/mental retardation, X-linked (ATRX) genes with next-generation sequencing (NGS) to find potential pathological mutations and their effect on survival. Read More

Mol Cell Endocrinol 2022 Jun 20;553:111679. Epub 2022 Jun 20.

The State Key Laboratory of Cellular Stress Biology, Innovation Center for Cell Signaling Network, School of Life Sciences, Xiamen University, Fujian, 361005, China. Electronic address:

As an essential primary hormone, thyroid hormone (TH) is indispensable for human growth, development and metabolism. Impairment of TH function in several aspects, including TH synthesis, activation, transportation and receptor-dependent transactivation, can eventually lead to thyroid hormone resistance syndrome (RTH). RTH is a rare syndrome that manifests as a reduced target cell response to TH signaling. Read More

Clin Psychol Rev 2022 Jun 11;96:102178. Epub 2022 Jun 11.

Centre for Educational Development, Appraisal and Research (CEDAR), University of Warwick, Coventry CV4 7AL, UK; Coventry and Warwickshire Partnership NHS Trust, Rainbow Unit, Brooklands Hospital, Marston Green, Birmingham B37 5RY, UK.

Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological interventions. In this systematic review and narrative synthesis (PROSPERO 2021: CRD42021240930), we identify and evaluate the evidence base for the phenomenon and phenomenology of mental imagery in people with intellectual disabilities, to ascertain the applicability of such interventions for this population. Electronic searches of nine databases and grey literature identified relevant publications. Read More

Br J Nurs 2022 Jun;31(12):640-646

Assistant Professor, School of Nursing, Psychotherapy and Community Health, Dublin City University, Dublin.

The qualitative study reported in this article set out to develop an understanding of how staff supporting individuals with intellectual disabilities deliver health promotion in their practice. The aim was to determine how social care managers working within an intellectual disability care setting in Ireland perceived health promotion and their role within it. Semi-structured interviews were conducted to collect the data. Read More

Medeni Med J 2022 Jun;37(2):180-193

Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.

Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism.

Methods: Microarray analysis records between January 2016 and December 2017 from two Genetic Diagnostic Centers in Turkey, Kanuni Sultan Suleyman and Adana Numune Training and Research Hospital, were compiled. Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. Read More

Tijdschr Psychiatr 2022 ;64(5):291-294

Background: Because of rapid developments in genetic technology, more underlying genetic causes of psychiatric disorders can be detected which may contribute to better monitoring and treatment of co-morbidities than previously.

Aim: Review of monogenetic causes of psychiatric disorders.

Methode: Review of the literature. Read More

Tijdschr Psychiatr 2022 ;64(5):286-290

Background: Current developments in genetic strategies result in tracing an underlying genetic defect in the majority of neurodevelopmental disorders (NDD) patients, including those with normal functioning as well as intellectual disabilities. These genetic NDD are increasingly detected and still often underexposed in psychiatric practice.

Aim: To improve (early) detection of these genetic NDD to contribute to psychiatric diagnostics and treatment, with the emphasis on reducing the mental vulnerabilities per developmental stage. Read More