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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
Jeffrey Fagen, Phyllis Ohr, Kimberly Boller
In this article, we reflect upon Carolyn Rovee-Collier's pioneering research on learning and memory in infants, especially that using the mobile conjugate reinforcement task, for our understanding of (a) cognitive development in infants born prematurely and those with Down's syndrome and (b) her prediction that infants' performance in the mobile conjugate reinforcement and similar operant tasks would predict later intellectual functioning. We then examine the implications of her research on time windows (the integration of new information into a memory) and memory reactivation (the retrieval of a forgotten memory as a result of the re-exposure to a component of the original learning experience) for early intervention programs and clinicians treating victims of early trauma...
November 2016: Developmental Psychobiology
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
Wolfgang Kuchinke, Christian Krauth, René Bergmann, Töresin Karakoyun, Astrid Woollard, Irene Schluender, Benjamin Braasch, Martin Eckert, Christian Ohmann
BACKGROUND: In an unprecedented rate data in the life sciences is generated and stored in many different databases. An ever increasing part of this data is human health data and therefore falls under data protected by legal regulations. As part of the BioMedBridges project, which created infrastructures that connect more than 10 ESFRI research infrastructures (RI), the legal and ethical prerequisites of data sharing were examined employing a novel and pragmatic approach. METHODS: We employed concepts from computer science to create legal requirement clusters that enable legal interoperability between databases for the areas of data protection, data security, Intellectual Property (IP) and security of biosample data...
July 7, 2016: BMC Medical Informatics and Decision Making
Debbie Van Biesen, Florentina Hettinga, Katina McCulloch, Yves C Vanlandewijck
PURPOSE: To understand how athletes invest their energy over a race, differences in pacing ability between athletes with and without intellectual impairment (II) were explored using a novel field test. METHODS: Well-trained runners (n=67) participated in this study, including 34 runners with II (age = 24.4 ± 4.5 years; IQ = 63.1 ± 7.7) and 33 runners without II (age = 31.4 ± 11.2 years). The ability to perform at a pre-planned submaximal pace was assessed. Two 400m running trials were performed on an athletics track, with an individually standardized velocity...
October 5, 2016: Medicine and Science in Sports and Exercise
(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 Boudreau, Eva C Guinan, Karim R Lakhani, Christoph Riedl
Selecting among alternative projects is a core management task in all innovating organizations. In this paper, we focus on the evaluation of frontier scientific research projects. We argue that the "intellectual distance" between the knowledge embodied in research proposals and an evaluator's own expertise systematically relates to the evaluations given. To estimate relationships, we designed and executed a grant proposal process at a leading research university in which we randomized the assignment of evaluators and proposals to generate 2,130 evaluator-proposal pairs...
October 2016: Management Science
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
Catherine Grotz, Xavier Seron, Marie Van Wissen, Stéphane Adam
BACKGROUND: While some tools have been developed to estimate an individual's cognitive reserve (CR), no study has assessed the adequacy of the method used for assessing these CR proxy indicators. Therefore, we aimed to determine the most appropriate method to estimate CR by comparing two approaches: (1) the common assessment of CR proxies in the literature (e.g. years of education) and (2) the calculation of a comprehensive index based on most significant parameters used in the estimation of CR...
October 17, 2016: International Psychogeriatrics
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
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