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Intellectual And Disability

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https://www.readbyqxmd.com/read/30537371/genotype-and-phenotype-correlations-for-shank3-de-novo-mutations-in-neurodevelopmental-disorders
#1
Ying Li, Xiangbin Jia, Huidan Wu, Guanglei Xun, Jianjun Ou, Qiumeng Zhang, Honghui Li, Ting Bai, Zhengmao Hu, Xiaobing Zou, Kun Xia, Hui Guo
SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID). Although broad developmental phenotypes of these patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with SHANK3 DNMs...
December 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30536814/intellectual-adaptive-and-behavioural-characteristics-in-four-patients-with-18p-deletion-syndrome
#2
C B Mello, O F A Bueno, L M Benedetto, L S E Pimenta, S S Takeno, M I Melaragno, V A Meloni
BACKGROUND: The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype-phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. METHOD: We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler's Scales, the Vineland-II Scale and the Child Behaviour Checklist, respectively...
December 9, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/30536559/a-resistance-exercise-set-for-a-total-body-workout-for-adults-with-intellectual-disabilities-a-pilot-study
#3
Stijn Weterings, Alyt Oppewal, Florien M M van Eeden, Thessa I M Hilgenkamp
BACKGROUND: Resistance training has beneficial effects on fitness levels, cardiovascular disease risk, risk of sarcopenia and on performing activities of daily living. The focus of this study is to design a total body resistance exercise set for adults with intellectual disabilities (RESID) with minimal equipment required and to test its feasibility. METHOD: The RESID was selected in an expert meeting, and its feasibility was determined in a cross-sectional pilot study...
December 10, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/30536215/parent-reported-communication-abilities-of-children-with-sotos-syndrome-evidence-from-the-children-s-communication-checklist-2
#4
Chloe Lane, Jo Van Herwegen, Megan Freeth
Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children's Communication Checklist, second edition. A cross-syndrome approach was used to establish the specificity of these abilities. Children with Williams syndrome (n = 34) were used as a comparison group. In both groups, the majority of participants had communicative impairment. Children with Sotos syndrome had an uneven pragmatic language profile and greater impairment with social relations, compared with restricted interests...
December 8, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/30534979/direct-and-collateral-alterations-of-functional-cortical-circuits-in-a-rat-model-of-subcortical-band-heterotopia
#5
Vanessa Plantier, Françoise Watrin, Emmanuelle Buhler, Fanny Sandrine Martineau, Surajit Sahu, Jean-Bernard Manent, Ingrid Bureau, Alfonso Represa
Subcortical band heterotopia (SBH), also known as double-cortex syndrome, is a neuronal migration disorder characterized by an accumulation of neurons in a heterotopic band below the normotopic cortex. The majority of patients with SBH have mild to moderate intellectual disability and intractable epilepsy. However, it is still not clear how cortical networks are organized in SBH patients and how this abnormal organization contributes to improper brain function. In this study, cortical networks were investigated in the barrel cortex in an animal model of SBH induced by in utero knockdown of Dcx, main causative gene of this condition in human patients...
December 7, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/30534410/a-novel-intragenic-deletion-in-ophn1-in-a-japanese-patient-with-dandy-walker-malformation
#6
Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Eiji Nakagawa, Kenji Kurosawa, Ken Inoue, Yu-Ichi Goto
Dandy-Walker malformation (DWM) is a rare congenital malformation defined by hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle. Oligophrenin-1 is mutated in X-linked intellectual disability with or without cerebellar hypoplasia. Here, we report a Japanese DWM patient carrying a novel intragenic 13.5-kb deletion in OPHN1 ranging from exon 11-15. This is the first report of an OPHN1 deletion in a Japanese patient with DWM.
2019: Human Genome Variation
https://www.readbyqxmd.com/read/30534103/e-health-interventions-for-adult-and-aging-population-with-intellectual-disability-a-review
#7
REVIEW
Andrea Vázquez, Cristina Jenaro, Noelia Flores, María José Bagnato, Ma Carmen Pérez, Maribel Cruz
To answer the question about which e-health and e-therapy applications are being used with people with intellectual disabilities, we searched the PsycINFO, Medline, PubMed, ERIC, CINAHL, Scopus, Web of Science, and Cochrane databases. This is an extensive search. Inclusion criteria were academic journals and any design type that addressed the topic of interest. Studies that do not include adults or elderly, and studies that do not focus on people with disabilities but on third parties, were excluded. After an initial selection of 515 articles, 32 full-text articles were subjected to in-depth analysis leading to the final selection of 18 articles...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/30532362/giant-axonal-neuropathy-clinical-radiological-and-genetic-features
#8
Meenal Garg, Shilpa D Kulkarni, Anaita Udwadia Hegde, Margi Desai, Rafat J Sayed
Introduction: Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN. Methods: Three pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings...
October 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/30532097/-legitimidad-de-la-histerectom%C3%A3-a-para-resolver-el-problema-de-la-higiene-menstrual-en-adolescentes-con-discapacidad-intelectual
#9
Horacio Márquez-González, Edith Valdez-Martínez
Menstrual hygiene in adolescents with intellectual disability (ID) represents an extra burden for parents or primary caregivers, especially in developing countries, where social institutions, including the health system, lack the capability to help this group of teenagers and their families; hence, hysterectomy to eliminate menstrual bleeding is considered a morally acceptable resource. Hysterectomy to solve the "problem" of menstrual hygiene reflects obstacles that affect the care provided by the physician to the adolescent with ID: on one hand, the criterion of social value about a "poor quality of life," and on the other, discrimination when only socioeconomic conditions are considered rather than the lack of a social network of support and special education...
2018: Gaceta Médica de México
https://www.readbyqxmd.com/read/30531935/common-variant-associations-with-fragile-x-syndrome
#10
James J Crowley, Jin Szatkiewicz, Anna K Kähler, Paola Giusti-Rodriguez, NaEshia Ancalade, Jessica K Booker, Jennifer L Carr, Greg E Crawford, Molly Losh, Craig A Stockmeier, Annette K Taylor, Joseph Piven, Patrick F Sullivan
Fragile X syndrome is rare but a prominent cause of intellectual disability. It is usually caused by a de novo mutation that occurs on multiple haplotypes and thus would not be expected to be detectible using genome-wide association (GWA). We conducted GWA in 89 male FXS cases and 266 male controls, and detected multiple genome-wide significant signals near FMR1 (odds ratio = 8.10, P = 2.5 × 10-10 ). These findings withstood robust attempts at falsification. Fine-mapping yielded a minimum P = 1...
December 7, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30531907/mechanistic-insights-revealed-by-a-ube2a-mutation-linked-to-intellectual-disability
#11
Juliana Ferreira de Oliveira, Paula Favoretti Vital do Prado, Silvia Souza da Costa, Mauricio Luis Sforça, Camila Canateli, Americo Tavares Ranzani, Mariana Maschietto, Paulo Sergio Lopes de Oliveira, Paulo A Otto, Rachel E Klevit, Ana Cristina Victorino Krepischi, Carla Rosenberg, Kleber Gomes Franchini
Ubiquitin-conjugating enzymes (E2) enable protein ubiquitination by conjugating ubiquitin to their catalytic cysteine for subsequent transfer to a target lysine side chain. Deprotonation of the incoming lysine enables its nucleophilicity, but determinants of lysine activation remain poorly understood. We report a novel pathogenic mutation in the E2 UBE2A, identified in two brothers with mild intellectual disability. The pathogenic Q93E mutation yields UBE2A with impaired aminolysis activity but no loss of the ability to be conjugated with ubiquitin...
January 2019: Nature Chemical Biology
https://www.readbyqxmd.com/read/30530576/individual-cognitive-stimulation-therapy-for-people-with-intellectual-disability-and-dementia-protocol-of-a-feasibility-randomised-controlled-trial
#12
Afia Ali, Emma Brown, Aimee Spector, Elisa Aguirre, Angela Hassiotis
INTRODUCTION: Cognitive stimulation therapy (CST) is a psychosocial intervention for dementia. Group CST is effective in reducing cognitive decline and improving quality of life in patients with dementia. There is some evidence that individual CST (iCST) may be beneficial in reducing cognitive decline. People with intellectual disability (ID) have an increased risk of dementia. However, there are no published studies of CST in people with ID and dementia. This protocol describes the feasibility and acceptability of a randomised controlled trial of iCST delivered by carers to people with ID and dementia, compared with treatment as usual (TAU)...
December 9, 2018: BMJ Open
https://www.readbyqxmd.com/read/30530134/brivaracetam-in-adults-with-drug-resistant-epilepsy-and-psychiatric-comorbidities
#13
Evangelia Theochari, Hannah Cock, Dora Lozsadi, Clare Galtrey, Jan Arevalo, Marco Mula
This is a case series of 25 patients with drug-resistant epilepsy and psychiatric comorbidities who started on brivaracetam (BRV) at St George's University Hospitals and Frimley Health in London. Median BRV dose was 150 mg for a median follow-up period of 8 months. Twenty had focal epilepsy, four had generalized epilepsies, and one had unclassified epilepsy; 76% had mood disorders (either depression or bipolar disorder), 12% intellectual disabilities with autism spectrum disorder and challenging behavior, and 12% psychoses...
December 7, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/30529483/efficacy-of-parent-training-incorporated-in-behavioral-sleep-interventions-for-children-with-autism-spectrum-disorder-and-or-intellectual-disabilities-a-systematic-review
#14
REVIEW
Bernadette Kirkpatrick, Julia S Louw, Geraldine Leader
OBJECTIVE: Behavioral sleep interventions are regularly used to improve sleep problems experienced by children with autism spectrum disorder (ASD) and/or intellectual disability (ID). Recent developments have seen the introduction of parent sleep education and healthy sleep practice training to sleep interventions. This article aims to systematically review the evidence on the efficacy of parent training that is incorporated within recent sleep interventions for children with ASD and/or ID...
October 11, 2018: Sleep Medicine
https://www.readbyqxmd.com/read/30528856/developmental-changes-in-eeg-phenotypes-in-a-mouse-model-of-fragile-x-syndrome
#15
Teresa H Wen, Jonathan W Lovelace, Iryna M Ethell, Devin K Binder, Khaleel A Razak
Fragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. Sensory processing deficits are common in humans with FXS and an animal model, the Fmr1 knockout (KO) mouse, manifesting in the auditory system as debilitating hypersensitivity and abnormal electroencephalographic (EEG) and event-related potential (ERP) phenotypes. FXS is a neurodevelopmental disorder, but how EEG/ERP phenotypes change during development is unclear. Therefore, we characterized baseline and stimulus-evoked EEG in auditory and frontal cortex of developing (postnatal day (P) 21 and P30) and adult (P60) wildtype (WT) and Fmr1 KO mice with the FVB genetic background...
December 4, 2018: Neuroscience
https://www.readbyqxmd.com/read/30526868/bi-allelic-tmem94-truncating-variants-are-associated-with-neurodevelopmental-delay-congenital-heart-defects-and-distinct-facial-dysmorphism
#16
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J Patil, Pascal Joset, Hane Lee, Lisa J Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P Bodine, Nathanial J Tolman, Patricia M Zerfas, Allison Zheng, Georgia Ramantani, Katta M Girisha, Cecilia Rivas, Pujar V Suresh, Abdel Elkahloun, Hessa S Alsaif, Salma M Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Ashok B Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H Douglas Morris, Anita Rauch, Julian A Martinez-Agosto, Stanley F Nelson, Fowzan S Alkuraya, William A Gahl, May Christine V Malicdan
Neurodevelopmental disorders (NDD) are genetically and phenotypically heterogeneous conditions due to defects in genes involved in development and function of the nervous system. Individuals with NDD, in addition to their primary neurodevelopmental phenotype, may also have accompanying syndromic features that can be very helpful diagnostically especially those with recognizable facial appearance. In this study, we describe ten similarly affected individuals from six unrelated families of different ethnic origins having bi-allelic truncating variants in TMEM94, which encodes for an uncharacterized transmembrane nuclear protein that is highly conserved across mammals...
December 6, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30526862/variants-in-pus7-cause-intellectual-disability-with-speech-delay-microcephaly-short-stature-and-aggressive-behavior
#17
Arjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, Clara Soyris, Daniel L Polla, Modi Safra, Avia Zisso, Christopher A Powell, Pedro Rebelo-Guiomar, Nadja Dinges, Violeta Morin, Michael Stock, Mureed Hussain, Mohsin Shahzad, Saima Riazuddin, Zubair M Ahmed, Rolph Pfundt, Franziska Schwarz, Lonneke de Boer, André Reis, Detilina Grozeva, F Lucy Raymond, Sheikh Riazuddin, David A Koolen, Michal Minczuk, Jean-Yves Roignant, Hans van Bokhoven, Schraga Schwartz
We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs∗ 20), c.1348C>T (p.Arg450∗ ), and a deletion of the penultimate exon 15. All these individuals have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior. PUS7 encodes the RNA-independent pseudouridylate synthase 7. Pseudouridylation is the most abundant post-transcriptional modification in RNA, which is primarily thought to stabilize secondary structures of RNA...
December 6, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30525188/diagnostic-exome-sequencing-in-100-consecutive-patients-with-both-epilepsy-and-intellectual-disability
#18
Francesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, Petra van Mierlo, Hilde M H Braakman, Eric E Smeets, Joost Nicolai, Jeroen Schoots, Mariel W A Teunissen, Rob P W Rouhl, In Y Tan, Helger G Yntema, Han G Brunner, Rolph Pfundt, Alexander P Stegmann, Erik-Jan Kamsteeg, Helenius J Schelhaas, Marjolein H Willemsen
OBJECTIVE: Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES). In addition, we evaluated which clinical characteristics influence the likelihood of identifying a genetic cause and we assessed the potential impact of the genetic diagnosis on (antiepileptic) treatment strategy...
December 7, 2018: Epilepsia
https://www.readbyqxmd.com/read/30525181/a-comparison-of-blocked-and-mixed-trial-methods-for-teaching-auditory-visual-discriminations
#19
Stephanie N Bentham, Stephen F Walker, Maria E Vander Pluym, Kristina N Tejeda
Behavior analysts typically teach conditional discriminations in a mixed-trial format but may switch to a blocked-trial format for learners displaying limited acquisition. No known research has shown that mixed-trial methods are more effective or efficient than blocked-trial methods for teaching discriminations, so it is not clear why this format has been adopted as the "first-line" intervention. We compared blocked and mixed-trial formats for teaching novel auditory-visual discriminations to three adults with intellectual and developmental disabilities (IDD)...
December 7, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/30525118/-plpbp-mutations-cause-variable-phenotypes-of-developmental-and-epileptic-encephalopathy
#20
Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, Chai-Soon Khoo, Muzhirah Haniffa, Gaik-Siew Ch'ng, Kazuma Takada, Keisuke Nakajima, Masayasu Ohta, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Objective: Vitamin B6 -dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1 , PNPO , and others. Recently, biallelic variants in PLPBP, formerly known as PROSC , were identified as a novel cause of vitamin B6 -dependent epilepsies. Our objective was to further delineate the phenotype of PLPBP mutation. Methods: We identified 4 unrelated patients harboring a total of 4 variants in PLPBP , including 3 novel variants, in a cohort of 700 patients with developmental and epileptic encephalopathies...
December 2018: Epilepsia Open
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