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Intellectual disability

Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Hamidreza Khodadadi, Luis J Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán-Ruiz
INTRODUCTION: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations. OBJECTIVES: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism. METHODS: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Shiny Thomas, Mary E Hovinga, Dheeraj Rai, Brian K Lee
Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1...
October 17, 2016: Journal of Autism and Developmental Disorders
Jordan Elliott-King, Sarah Shaw, Stephan Bandelow, Rajal Devshi, Shelina Kassam, Eef Hogervorst
INTRODUCTION: Currently, there is no consensus on dementia diagnostics in adults with intellectual disabilities (ID). There are three types of assessments available: direct cognitive tests, test batteries, and informant reports. METHODS: A systematic literature search was conducted in four databases yielding 9840 records. Relevant studies were identified and selected using predefined inclusion and exclusion criteria and then coded and classified according to assessment type...
2016: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
Daniel Satgé, Emmanuelle Kempf, Jean-Bernard Dubois, Motoi Nishi, Jean Trédaniel
As the life expectancy of people with intellectual disability (ID) has progressed, they have become similarly at risk of cancer as individuals of the general population. Epidemiological studies indicate a reduced incidence and mortality from lung cancer in the total population of persons with ID. However, the pattern is heterogeneous and the risk is strongly correlated with the impairment level; persons with mild intellectual impairment have higher cancer risk, and this subgroup also has the highest tobacco consumption (the major risk factor for lung cancer) compared to individuals with more severe impairment...
2016: Lung Cancer International
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
(no author information available yet)
The cover image, by Stéphanie Moortgat et al., is based on the Original Article Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy, DOI: 10.1002/ajmg.a.37792.
November 2016: American Journal of Medical Genetics. Part A
Farah R Zahir, Tracy Tucker, Sonia Mayo, Carolyn J Brown, Emilia L Lim, Jonathan Taylor, Marco A Marra, Fadi F Hamdan, Jacques L Michaud, Jan M Friedman
The disruption of genes involved in epigenetic regulation is well known to cause Intellectual Disability (ID). We reported a custom microarray study that interrogated among others, the epigenetic regulatory gene-class, at single exon resolution. Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID etiology-ARID2, KDM3A, and ARID4B. The changes in ARID2 and KDM3A are likely pathogenic while the ARID4B variant is uncertain...
November 2016: American Journal of Medical Genetics. Part A
Hanna Mandel, Morad Khayat, Elana Chervinsky, Orly Elpeleg, Stavit Shalev
There is a significant level of genetic heterogeneity underlying the phenotype of nonspecific hypotonia with severe intellectual disability. Exome sequencing has proven to be a powerful tool for identifying the underlying molecular basis of such nonspecific, abnormal neurological phenotypes. Mutations in the TBCK gene have been reported associated with very poor, if any, psychomotor development, poor speech, and inability to walk independently. We describe the long-term phenotypic evolution of a severe nonspecific neurodevelopmental disorder in two siblings born to an Arab-Moslem family living in northern Israel...
October 17, 2016: American Journal of Medical Genetics. Part A
Joe Bathelt, Duncan Astle, Jessica Barnes, F Lucy Raymond, Kate Baker
Childhood speech and language deficits are highly prevalent and are a common feature of neurodevelopmental disorders. However, it is difficult to investigate the underlying causal pathways because many diagnostic groups have a heterogeneous aetiology. Studying disorders with a shared genetic cause and shared cognitive deficits can provide crucial insight into the cellular mechanisms and neural systems that give rise to those impairments. The current study investigated structural brain differences of individuals with mutations in ZDHHC9, which is associated with a specific neurodevelopmental phenotype including prominent speech and language impairments and intellectual disability...
2016: NeuroImage: Clinical
Kevin J Bennett, Suzanne McDermott, Joshua R Mann, James Hardin
BACKGROUND: Receiving recommended services for patients with diabetes is associated with improved outcomes and reduced morbidity. People with diabetes who also have a condition associated with disability represent one group that is at risk for health disparities. OBJECTIVE: To examine service utilization among persons with selected disabling conditions and diabetes, compared to those without. METHODS: 2007-2012 Medical Expenditure Panel Survey Full-Year Consolidated files, medical conditions files, and the 1996-2012 pooled linkage files were merged for this analysis...
September 13, 2016: Disability and Health Journal
Kazuhiro Muramatsu, Noriko Sawaura, Tomomi Ogata, Nishiki Makioka, Keiko Tomita, Toshino Motojima, Kuniko Ida, Kyoko Hazama, Hirokazu Arakawa
INTRODUCTION: Levetiracetam has a high tolerability and is effective against various seizure types and epilepsy syndromes. However, no study has specifically evaluated the efficacy of levetiracetam in children with refractory epilepsy based on magnetic resonance imaging (MRI) findings and the presence of intellectual disability (ID). METHODS: We retrospectively evaluated levetiracetam efficacy and safety in 49 pediatric patients who met the following inclusion criteria: (1) diagnosis of refractory epilepsy with first-line antiepileptic (AED) treatment ⩾2years, (2) younger than 20years old, and (3) received oral levetiracetam treatment for ⩾6months...
October 13, 2016: Brain & Development
Mark B Warren, Kathryn M Schak
A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management...
October 15, 2016: Journal of Genetic Counseling
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
M-N Babinet, C Rigard, É Peyroux, A-R Dragomir, I Plotton, H Lejeune, C Demily
INTRODUCTION: The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms...
October 12, 2016: L'Encéphale
Nelly Redolfi, Luisa Galla, Andrea Maset, Luca Murru, Eleonora Savoia, Ilaria Zamparo, Angela Gritti, Pierre Billuart, Maria Passafaro, Claudia Lodovichi
Among the X-linked genes associated to intellectual disability, Oligophrenin-1 (OPHN1) encodes for a Rho GTPase-activating protein, a key regulator of several developmental processes, such as dendrite and spine formation and synaptic activity. Inhibitory interneurons play a key role in the development and function of neuronal circuits. Whether mutation of OPHN1 can affect morphology and synaptic properties of inhibitory interneurons remains poorly understood. To address these open questions, we studied in a well established mouse model of X-linked intellectual disability, i...
October 13, 2016: Human Molecular Genetics
Wei-Shan Tsao, Hsi-Pao Hsieh, Yi-Ting Chuang, Min-Muh Sheu
PURPOSE: Students with cognitive impairment are at increased risk of suffering from visual impairment due to refractive errors and ocular disease, which can adversely influence learning and daily activities. The purpose of this study was to evaluate the ocular and visual status among students at the special education school in Hualien. METHODS: All students at the National Hualien Special Education School were evaluated. Full eye examinations were conducted by a skilled ophthalmologist...
October 11, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Ryan S D'Souza, James E Casanova
The IQsec/BRAG proteins are a subfamily of Arf-nucleotide exchange factors. Since their discovery almost 15 years ago, the BRAGs have been reported to be involved in diverse physiological processes from myoblast fusion, neuronal pathfinding and angiogenesis, to pathophysiological processes including X-linked intellectual disability and tumor metastasis. In this review we will address how, in each of these situations, the BRAGs are thought to regulate the surface levels of adhesive and signaling receptors. While in most cases BRAGs are thought to enhance the endocytosis of these receptors, how they achieve this remains unclear...
October 14, 2016: Small GTPases
Sanae Tanaka, Manabu Oi, Hiroshi Fujino, Mitsuru Kikuchi, Yuko Yoshimura, Yui Miura, Masatsugu Tsujii, Harue Ohoka
Some overlap has been suggested among the subtypes of autism spectrum disorder (ASD) in children. The Japanese version of the Children's Communication Checklist-2 (CCC-2) is a useful measure for identifying profiles in relation to communication impairments in children with ASD. The aim of this study was to investigate whether the CCC-2 could identify subtypes in relation to communication impairments in Japanese children with ASD. The study participants were 113 children with ASD but without intellectual disabilities aged 3-12 years...
October 14, 2016: Clinical Linguistics & Phonetics
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