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Am J Intellect Dev Disabil 2021 Jul;126(4):341-356

Tommie Forslund, Stockholm University and the SUF Resource Center, Uppsala, Sweden.

Prior research indicates links between parents' experiences of interpersonal trauma and emotion-interpretation difficulties, and between such difficulties and child attachment insecurity and disorganization. Although mothers with mild levels of intellectual disability (ID) are at heightened risk for trauma and emotion-interpretation difficulties, and their children for attachment insecurity, corresponding links in this population have not been examined. We therefore investigated emotional interpretations among mothers with mild levels of ID (n = 23) and matched comparison mothers without ID (n = 25), in relation to mothers' experiences of trauma and their children's attachment representations. Read More

Neuropsychiatr 2021 Jun 23. Epub 2021 Jun 23.

Dept. Child and Adolescent Psychiatry, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Alleviating the multiple problems of children with autism spectrum disorder (ASD) and its comorbid conditions presents major challenges for the affected children, parents, and therapists. Because of a complex psychopathology, structured therapy and parent training are not always sufficient, especially for those patients with intellectual disability (ID) and multiple comorbidities. Moreover, structured therapy is not available for a large number of patients, and pharmacological support is often needed, especially in those children with additional attention deficit/hyperactivity and oppositional defiant, conduct, and sleep disorders. Read More

Am J Med Genet A 2021 Jun 23. Epub 2021 Jun 23.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused by homozygous pathogenic missense variants in CYP26B1. In contrast, a 22-year-old female was reported with a homozygous missense pathogenic variant in CYP26B1 with complex multisuture craniosynostosis and intellectual disability, suggesting that in some cases, biallelic pathogenic variants of CYP26B1 may be compatible with life. Read More

J Pediatr Urol 2021 Jun 5. Epub 2021 Jun 5.

Department of Pediatric Surgery, New Children's Hospital, Helsinki University Hospital, Stenbäckinkatu 9, 00029 HUS, Helsinki, Finland.

Background: The Posterior Urethral Valve (PUV) is a persistent membrane of the urethra, which causes obstruction in the urogenital tract in boys. To our knowledge, no comprehensive reports have been published on whether PUV is associated to neurodevelopmental disorders. Here, we analyzed a cohort of PUV patients for neurodevelopmental disorders and verified findings in an older cohort. Read More

Hum Mutat 2021 Jun 22. Epub 2021 Jun 22.

Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. Read More

JAMA Netw Open 2021 Jun 1;4(6):e2113446. Epub 2021 Jun 1.

The Department of Developmental Disability Neuropsychiatry, University of New South Wales, Sydney, New South Wales, Australia.

JAMA Netw Open 2021 Jun 1;4(6):e2113014. Epub 2021 Jun 1.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Importance: Knowledge of the health challenges and mortality in people with intellectual disability (ID) should guide health policies and practices in contemporary society.

Objective: To examine premature mortality in individuals with ID.

Design, Setting, And Participants: This population-based longitudinal cohort study obtained data from several national health care, education, and population registers in Sweden. Read More

J Intellect Disabil 2021 Jun 22:17446295211018910. Epub 2021 Jun 22.

Dublin City University, Ireland.

Literature pertaining to open disclosure predominantly refers to acute care settings; this is the case in, for example, the UK, Republic of Ireland, Australia, Korea and the USA. There is, however, a dearth of literature regarding open disclosure related to people with intellectual disabilities. A practice example of open disclosure is presented here, following a serious adverse event in an organisation supporting adults with intellectual disabilities. Read More

J Dermatol 2021 Jun 22. Epub 2021 Jun 22.

Department of Dermatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital, Beijing, China.

Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS. Either Sanger sequencing or next-generation sequencing (NGS) was performed for three Chinese RTS patients. Read More

Clin Genet 2021 Jun 22. Epub 2021 Jun 22.

Department of Paediatric Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium.

Ciliopathies are a group of clinical and molecular heterogeneous conditions with pleiotropic manifestations affecting the central nervous system, renal, liver, skeletal, and ocular systems. Biallelic pathogenic variants in DCDC2 cause a ciliopathy primarily presenting with neonatal sclerosing cholangitis (NSC). Pathogenic variants in DCDC2 have further been reported in the context of nephronophthisis and non-syndromic recessive deafness. Read More

Autism 2021 Jun 21:13623613211020183. Epub 2021 Jun 21.

The George Washington University, USA.

Lay Abstract: Autistic adults without a suspected intellectual disability reported several motor features such as having tremors, and stiffness in one's legs which are considered to be part of a complex of motor features called parkinsonism. This so-called parkinsonism was remarkably prevalent in middle-aged and older autistic adults in two independent studies (Dutch study: 50-81 years, 183 males, 113 females, all adulthood diagnoses; the USA study: 50-83 years, 110 females, 109 males, majority adulthood diagnosis). Parkinsonism can be part of the progressive motor disease-Parkinson's disease. Read More

Eur J Paediatr Neurol 2021 Jun 7;33:112-120. Epub 2021 Jun 7.

Department of Paediatric Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. Electronic address:

Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Read More

Neurobiol Dis 2021 Jun 18:105427. Epub 2021 Jun 18.

Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, United States of America; Medical Investigations of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis, CA 95817, USA. Electronic address:

CGG expansions between 55 and 200 in the 5'-untranslated region of the fragile-X mental retardation gene (FMR1) increase the risk of developing the late-onset debilitating neuromuscular disease Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). While the science behind this mutation, as a paradigm for RNA-mediated nucleotide triplet repeat expansion diseases, has progressed rapidly, no treatment has proven effective at delaying the onset or decreasing morbidity, especially at later stages of the disease. Here, we demonstrated the beneficial effect of the phytochemical sulforaphane (SFN), exerted through NRF2-dependent and independent manner, on pathways relevant to brain function, bioenergetics, unfolded protein response, proteosome, antioxidant defenses, and iron metabolism in fibroblasts from FXTAS-affected subjects at all disease stages. Read More

Front Oncol 2021 2;11:705406. Epub 2021 Jun 2.

Department of Oncology, The Second Xiangya Hospital, Central South University, Changsha, China.

[This corrects the article DOI: 10.3389/fonc.2020. Read More

Front Psychol 2021 28;12:662024. Epub 2021 May 28.

Department of Psychology and Cognitive Sciences, University of Trento, Rovereto, Italy.

Front Hum Neurosci 2021 3;15:661392. Epub 2021 Jun 3.

Escuela Técnica Superior de Ingeniería Informática, Universidad Rey Juan Carlos, Madrid, Spain.

Complex simultaneous neuropsychophysiological mechanisms are responsible for the processing of the information to be transmitted and for the neuromotor planning of the articulatory organs involved in speech. The nature of this set of mechanisms is closely linked to the clinical state of the subject. Thus, for example, in populations with neurodevelopmental deficits, these underlying neuropsychophysiological procedures are deficient and determine their phonation. Read More

J Neurodev Disord 2021 Jun 21;13(1):24. Epub 2021 Jun 21.

Department of Psychiatry and Behavioral Sciences, University of Washington, CHDD, Box 357920, Seattle, WA, 98195, USA.

Background: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms.

Main Body: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. Read More

Disabil Rehabil 2021 Jun 19:1-9. Epub 2021 Jun 19.

Telethon Kids Institute, University of Western Australia, Perth, Australia.

Purpose: This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.

Methods: Data on WA live births from 1983 to 2004 from the WA Midwives Notification System were linked to the Intellectual Disability Exploring Answers database, the WA Hospital Morbidity Data System, and the Western Australian Birth Defects Registry databases. Children were followed from birth to 2010 and the data grouped into three age-groups. Read More

Int J Dev Disabil 2019 Jul 9;67(2):151-157. Epub 2019 Jul 9.

Faculty of Medicine, Child and Adolescent Psychiatry, Ankara Yildirim Beyazit University, Ankara, Turkey.

The aim of this study was to investigate the psychiatric disorders that accompany mild intellectual disability (ID) in school-aged children in a clinical setting. The Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version interview was conducted with the children with mild ID and their parents to diagnose any comorbid disorders. The mean age of the 111 children that fulfilled the study criteria was 12. Read More

Int J Dev Disabil 2019 Apr 15;67(2):94-100. Epub 2019 Apr 15.

Department of Chemistry, Biochemistry Division, Savitribai Phule Pune University, Pune, India.

Intellectual disability (ID) is a neurodevelopmental disorder characterized by cognitive delays. Inborn errors of metabolism constitute an important subgroup of ID for which various treatments options are available. We aimed to identify potential biomarkers of inherited metabolic disorders from the children with ID using tandem mass spectrometry and develop a novel machine learning algorithm to differentiate between the cases and the controls. Read More

Int J Dev Disabil 2019 May 15;67(1):67-78. Epub 2019 May 15.

Texas Christian University, Fort Worth, TX, USA.

In the United States, educational inclusion of students with intellectual disabilities is relatively new. It was not until 1975 that the right to a "free appropriate public education" for children with disabilities was recognized, and not until 1990 that adults with disabilities were granted equal employment opportunities. Arguably, systems still exist that exclude and oppress individuals with significant intellectual disabilities. Read More

Int J Dev Disabil 2019 Apr 20;67(1):44-57. Epub 2019 Apr 20.

Department of Psychology, Nottingham Trent University, Nottingham, United Kingdom.

Discovery awareness (DA) is an approach to using video within structured meetings to help staff become more mindful, aware and interested in a client they are supporting who has intellectual disabilities and challenging behaviour. The objective was to evaluate whether, and how, DA is helpful for staff in both inpatient and community settings, and whether it increases self-efficacy in working with people with challenging behaviour. A two-phase mixed method design was employed. Read More

Int J Dev Disabil 2019 Mar 27;67(1):1-22. Epub 2019 Mar 27.

Head of School of Health Sciences, Waterford Institute of Technology, Ireland.

Understanding the nature of work-related stress and burnout among intellectual disability care staff is important to protect the well-being of these workers and encourage their retention in the sector. Though reviews of specific aspects of this literature have been conducted no article has sought to fully chart the range and nature of this research. This article addresses this gap by synthesizing the findings of such research with consideration to the future implications for protecting the well-being of care workers. Read More

Int J Dev Disabil 2019 Mar 27;66(4):317-326. Epub 2019 Mar 27.

Ministry of Education, Seeb, Sultanate of Oman.

In Oman and elsewhere in Arab countries school professionals rely on measures that were developed in Western countries. Measures that assess adaptive behaviour (AB) that have been developed in Western cultures are argued to be culturally bound. Nevertheless, these measures are used elsewhere despite a paucity of data that examine their cross-national transportability. Read More

Int J Dev Disabil 2019 Jan 15;66(3):190-195. Epub 2019 Jan 15.

Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

Inborn errors of metabolism (IEMs) are rare genetic disorders. Generally, IEMs are untreatable; however, some IEMs causing intellectual disability are potentially treatable if diagnosed earlier. In this study, levels of some clinically important biochemical parameters in intellectually disabled children suspected for IEMs were tested to see their association with intellectual disability, which could be helpful in preliminary screening. Read More

Int J Dev Disabil 2018 Nov 21;66(2):153-159. Epub 2018 Nov 21.

Department of Educational and Social Policy, University of Macedonia, Thessaloniki, Greece.

The study of independent living (IL) of individuals with disabilities during the last decades has been in the focus of scientific field of educational and social sciences. The conceptual framework formed around the concept of IL led to practices that have been supporting the idea that IL may be a significant option for individuals with disabilities. Specifically, for individuals with intellectual disability (ID), the goal focuses on the development and implementation of integrated programs of IL in the community. Read More

Int J Dev Disabil 2018 Oct 31;66(1):82-89. Epub 2018 Oct 31.

Department of Special Education, University of Illinois at Chicago College of Applied Health Sciences, USA.

Although adult siblings often fulfill caregiving roles for their brothers and sisters with intellectual and developmental disabilities (IDD) and report needing support, little intervention research has been conducted with adult siblings of individuals with IDD. The purpose of this pilot study was to examine the preliminary outcomes of a leadership and support program for adult siblings of individuals with IDD. Pre, post and follow-up survey data indicated that the program correlated with increased sibling connectedness and empowerment. Read More

Int J Dev Disabil 2018 Oct 24;66(1):67-74. Epub 2018 Oct 24.

Berkshire Healthcare NHS Foundation Trust, Bracknell, UK.

  The objectives of this mixed methods study are to 1) investigate the knowledge and skills of mainstream psychiatrists in managing patients with Intellectual Disability (ID) and comorbid mental health disorders, 2) assess their perception of the quality and accessibility of services for this population, and 3) establish the local implementation of the Green Light Toolkit. We surveyed mainstream psychiatrists in the Thames Valley region working in general adult, forensic, and older adult services, to ascertain their opinions about their knowledge and skills in managing patients with ID and comorbid mental disorder, as well as quality and accessibility of services. We compared our findings with previous UK and international research. Read More

Int J Dev Disabil 2018 Jun 20;66(1):36-45. Epub 2018 Jun 20.

Department of Psychology, National Center for Psychotraumatology, University of Southern Denmark, Odense, Denmark.

: Individuals with intellectual disability respond differently to traumatic events, compared to the general population, which makes post-traumatic stress disorder (PTSD) symptoms difficult to recognize. The current study aims to examine the presence of undetected PTSD among individuals with intellectual disability and a known history of trauma exposure. Nine individuals, who have not previously been diagnosed with PTSD, were evaluated for PTSD symptoms through case reports, which include descriptions of medical history, symptoms and behavior described in the former diagnostic reports, potential traumatic experiences, current symptoms and behavior in accordance to the Lancaster and North Gate Trauma Scale, and PTSD criteria from DM-ID. Read More