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https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#1
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29774525/teaching-social-perception-skills-to-adolescents-with-autism-and-intellectual-disabilities-using-video-based-group-instruction
#2
Tiffany A Stauch, Joshua B Plavnick, Sudha Sankar, Annie C Gallagher
Few interventions focus on teaching social skills to adolescents with autism spectrum disorder (ASD) and intellectual disabilities (ID) that are consistently used during interactions with peers ( Carter et al., 2014). The present study evaluated the effects of video-based group instruction (VGI) on the acquisition of social perception skills of five adolescents with ASD or ID in a public school setting. Social perception involves observing affective behaviors of others, discriminating relevant environmental stimuli, and differentially reinforcing the affective behavior of another person...
May 17, 2018: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/29773210/cognitive-and-behavioral-effects-of-obstructive-sleep-apnea-syndrome-in-children-a-systematic-literature-review
#3
REVIEW
Thiago da Silva Gusmão Cardoso, Sabine Pompéia, Mônica Carolina Miranda
Obstructive sleep apnea syndrome (OSA) is a common respiratory sleep disorder in children that is believed to adversely affect both quality of life and cognition. The purpose of the present systematic review was to obtain evidence of the impact of OSA on children's cognitive/behavioral abilities from primary studies published in MEDLINE/PubMed, LILACS, SciELO, ISI Web of Science, and PsycINFO databases from 2002 to 2016. Of the 649 articles found, only 34 met the eligibility criteria: studies that evaluated cognition, behavior, and/or academic achievement of children meeting clinical criteria for OSA to compare their data to those of healthy controls or normative data, provided that the samples did not present conditions that might affect cognition/behavior irrespective of OSA...
June 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29772935/the-effects-of-literacy-interventions-on-single-word-reading-for-individuals-who-use-aided-aac-a-systematic-review
#4
Kelsey Mandak, Janice Light, Susannah Boyle
The purpose of this systematic review was to investigate the effects of instruction on single-word reading of individuals who use aided augmentative and alternative communication (AAC). A systematic search identified nine single-case experimental design studies that involved 24 individuals who used aided AAC. Overall, the evidence indicated that instruction had positive effects on reading at the single-word level for individuals across ages and diagnostic categories (i.e., autism spectrum disorder (ASD), cerebral palsy (CP), Down syndrome, and intellectual disability)...
May 18, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#5
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#6
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#7
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29768996/a-systematic-review-on-donepezil-based-derivatives-as-potential-cholinesterase-inhibitors-for-alzheimer-s-disease
#8
Jan Korabecny, Katarina Spilovska, Eva Mezeiova, Ondrej Benek, Radomir Juza, Daniel Kaping, Ondrej Soukup
Alzheimer's disease (AD) is a multifactorial progressive neurodegenerative disorder characterized by memory loss, disorientation, and gradual deterioration of intellectual capacity. Its etiology has not been elucidated yet. To date, only one therapeutic approach has been approved for the treatment of AD. The pharmacotherapy of AD has relied on non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist - memantine, and acetylcholinesterase (AChE) inhibitors (AChEIs) - tacrine, donepezil, rivastigmine and galantamine...
May 16, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#9
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29766482/-fragile-x-syndrome-new-therapeutic-strategies
#10
S Zeidler, B Dierckx, K Lubbers, A M van Eeghen, C R Lincke, J A Kievit, R Willemsen, A Rietman
Fragile X syndrome (fxs) is the most common hereditary cause of intellectual disability and autism spectrum disorders. Targeted treatment is currently lacking. In the past decades an enormous amount of knowledge has been obtained concerning the involved molecular pathways, introducing potential targets for disease modifying therapy.<br/> AIM: To present an overview of the development of targeted treatment for fxs.<br/> METHOD: Several important publications were collected and indexed.<br/> RESULTS: While preclinical animal model studies with targeted interventions are promising, the translation to the clinic has been disappointing...
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29765220/children-with-autism-spectrum-disorders-and-selective-mutism
#11
Hanna Steffenburg, Suzanne Steffenburg, Christopher Gillberg, Eva Billstedt
Background: It has been suggested that autism spectrum disorder (ASD) might be a "comorbid" condition in selective mutism (SM). Methods: In this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD. Results: Mean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#12
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#13
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29759022/compassion-focused-therapy-for-trauma-in-people-with-intellectual-disabilities-a-conceptual-review
#14
Megan Cowles, Cathy Randle-Phillips, Andrew Medley
Trauma exposure and post-traumatic stress disorder are more prevalent in people with intellectual disabilities (PWID) than in the general population, yet the evidence base for trauma interventions in this population is sparse. Compassion-focused therapy (CFT) may be particularly well-suited to PWID for a number of reasons, including its adaptability to different developmental levels. PWID are more likely to have issues with self-relating (e.g. shame and self-criticism) and attachment than the general population, two issues that are compounded by trauma and which CFT explicitly seeks to address...
January 1, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#15
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29758292/novel-truncating-ppm1d-mutation-in-a-patient-with-intellectual-disability
#16
Joseph Porrmann, Andreas Rump, Karl Hackmann, Nataliya Di Donato, Anne-Karin Kahlert, Johannes Wagner, Arne Jahn, Ines Eger, Monika Flury, Evelin Schrock, Andreas Tzschach, Laura Gieldon
Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29756478/outcome-of-serious-violent-offenders-with-psychotic-illness-and-cognitive-disorder-dealt-with-by-the-new-south-wales-criminal-justice-system
#17
Olav Nielssen, Natalia Yl Yee, Kimberlie Dean, Matthew Large
BACKGROUND: The few studies of the recidivism by people with psychotic illness and cognitive disorder who are convicted of serious violent offences and sentenced by the courts. METHOD: Re-imprisonment data were obtained for 661 individuals convicted of serious non-lethal violent offences in the District Courts of New South Wales in the years 2006 and 2007. Rates of re-imprisonment of offenders known to psychotic illness or cognitive disorder (intellectual disability or acquired brain injury) was compared to those not known to have those conditions...
May 1, 2018: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#18
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29754933/sleep-duration-and-sleep-quality-in-people-with-and-without-intellectual-disability-a-meta-analysis
#19
REVIEW
Andrew D R Surtees, Chris Oliver, Chris A Jones, David L Evans, Caroline Richards
This study provides the first meta-analysis of the purported differences in sleep time and sleep quality between people with and without intellectual disabilities. Twenty-one papers were identified that compared sleep time and/or sleep quality in people with and without intellectual disabilities. The meta-analysis of sleep time revealed that people with an intellectual disability slept for 18 min less, on average, than people without an intellectual disability. This significant difference was limited to those studies that tested groups of people with an identified genetic syndrome or developmental disorder...
November 28, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29754270/heterozygous-missense-variants-of-lmx1a-lead-to-nonsyndromic-hearing-impairment-and-vestibular-dysfunction
#20
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M van Rossum, Bas P Hartel, Stefan H Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J Rotteveel, Marieke F van Dooren, Peter Lichtner, Henricus P M Kunst, Ilse Feenstra, Ronald J C Admiraal, Helger G Yntema, Lies H Hoefsloot, Ronald J E Pennings, Hannie Kremer
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein-protein interactions...
May 12, 2018: Human Genetics
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