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https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#1
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29342210/effects-of-theory-of-mind-performance-training-on-reducing-bullying-involvement-in-children-and-adolescents-with-high-functioning-autism-spectrum-disorder
#2
Meng-Jung Liu, Le-Yin Ma, Wen-Jiun Chou, Yu-Min Chen, Tai-Ling Liu, Ray C Hsiao, Huei-Fan Hu, Cheng-Fang Yen
Bullying involvement is prevalent among children and adolescents with autism spectrum disorder (ASD). This study examined the effects of theory of mind performance training (ToMPT) on reducing bullying involvement in children and adolescents with high-functioning ASD. Children and adolescents with high-functioning ASD completed ToMPT (n = 26) and social skills training (SST; n = 23) programs. Participants in both groups and their mothers rated the pretraining and posttraining bullying involvement of participants on the Chinese version of the School Bullying Experience Questionnaire...
2018: PloS One
https://www.readbyqxmd.com/read/29340697/genetic-and-clinical-evidence-of-mitochondrial-dysfunction-in-autism-spectrum-disorder-and-intellectual-disability
#3
Alba Valiente-Pallejà, Helena Torrell, Gerard Muntané, Maria J Cortés, Rafael Martínez-Leal, Nerea Abasolo, Yolanda Alonso, Elisabet Vilella, Lourdes Martorell
Clinical conditions commonly associated with mitochondrial disorders (CAMDs) are often present in autism spectrum disorders (ASD) and intellectual disability (ID). Therefore, the mitochondrial dysfunction hypothesis has been proposed as a transversal mechanism that may function in both disorders. Here, we investigated the presence of conditions associated with mitochondrial disorders and mitochondrial DNA (mtDNA) alterations in 122 subjects who presented ASD with ID (ASD group), 115 subjects who presented ID but not ASD (ID group) and 112 healthy controls (HC group)...
January 11, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#4
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29339520/targeted-knockout-of-a-chemokine-like-gene-increases-anxiety-and-fear-responses
#5
Jung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, Boyoung Lee, Krishan Ariyasiri, Hyun-Taek Kim, Seung-Hyun Jung, Kyu-Seok Hwang, Tae-Ik Choi, Chul O Park, Won-Ki Huh, Matthias Carl, Jill A Rosenfeld, Salmo Raskin, Alan Ma, Jozef Gecz, Hyung-Goo Kim, Jin-Soo Kim, Ho-Chul Shin, Doo-Sang Park, Robert Gerlai, Bradley B Jamieson, Joon S Kim, Karl J Iremonger, Sang H Lee, Hee-Sup Shin, Cheol-Hee Kim
Emotional responses, such as fear and anxiety, are fundamentally important behavioral phenomena with strong fitness components in most animal species. Anxiety-related disorders continue to represent a major unmet medical need in our society, mostly because we still do not fully understand the mechanisms of these diseases. Animal models may speed up discovery of these mechanisms. The zebrafish is a highly promising model organism in this field. Here, we report the identification of a chemokine-like gene family, samdori (sam), and present functional characterization of one of its members, sam2 We show exclusive mRNA expression of sam2 in the CNS, predominantly in the dorsal habenula, telencephalon, and hypothalamus...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29335431/synaptic-localisation-of-srf-coactivators-mkl1-and-mkl2-and-their-role-in-dendritic-spine-morphology
#6
Marisa Kaneda, Hiroyuki Sakagami, Yamato Hida, Toshihisa Ohtsuka, Natsumi Satou, Yuta Ishibashi, Mamoru Fukuchi, Anna Krysiak, Mitsuru Ishikawa, Daisuke Ihara, Katarzyna Kalita, Akiko Tabuchi
The megakaryoblastic leukaemia (MKL) family are serum response factor (SRF) coactivators, which are highly expressed in the brain. Accordingly, MKL plays important roles in dendritic morphology, neuronal migration, and brain development. Further, nucleotide substitutions in the MKL1 and MKL2 genes are found in patients with schizophrenia and autism spectrum disorder, respectively. Thus, studies on the precise synaptic localisation and function of MKL in neurons are warranted. In this study, we generated and tested new antibodies that specifically recognise endogenously expressed MKL1 and MKL2 proteins in neurons...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29331075/an-examination-of-the-clinical-outcomes-of-adolescents-and-young-adults-with-broad-autism-spectrum-traits-and-autism-spectrum-disorder-and-anorexia-nervosa-a-multi-centre-study
#7
Bruno Palazzo Nazar, Vanessa Peynenburg, Charlotte Rhind, Rebecca Hibbs, Ulrike Schmidt, Simon Gowers, Pamela Macdonald, Elizabeth Goddard, Gillian Todd, Nadia Micali, Janet Treasure
OBJECTIVES: To compare the clinical outcomes of adolescents and young adults with anorexia nervosa (AN) comorbid with broad autism spectrum disorder (ASD) or ASD traits. METHOD: The developmental and well-being assessment and social aptitude scale were used to categorize adolescents and young adults with AN (N = 149) into those with ASD traits (N = 23), and those who also fulfilled diagnostic criteria for a possible/probable ASD (N = 6). We compared both eating disorders specific measures and broader outcome measures at intake and 12 months follow-up...
January 13, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#8
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327313/reduction-of-pain-sensitivity-after-somatosensory-therapy-in-children-with-autism-spectrum-disorders
#9
Inmaculada Riquelme, Samar M Hatem, Pedro Montoya
Children with autism spectrum disorders (ASD) often present with somatosensory dysfunction including an abnormal reactivity to tactile stimuli and altered pain perception. A therapy based on somatosensory stimuli has shown effectiveness in reducing pain sensitivity among adults with cerebral palsy. The present study aims at exploring the influence of somatosensory therapy on somatosensory parameters in children with ASD. Children with high-functioning ASD were randomly assigned to either the intervention (n = 29) or the control group (n = 30)...
January 12, 2018: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29317601/common-basis-for-orofacial-clefting-and-cortical-interneuronopathy
#10
Lydia J Ansen-Wilson, Joshua L Everson, Dustin M Fink, Henry W Kietzman, Ruth Sullivan, Robert J Lipinski
Orofacial clefts (OFCs) of the lip and/or palate are among the most common human birth defects. Current treatment strategies focus on functional and cosmetic repair but even when this care is available, individuals born with OFCs are at high risk for persistent neurobehavioral problems. In addition to learning disabilities and reduced academic achievement, recent evidence associates OFCs with elevated risk for a constellation of psychiatric outcomes including anxiety disorders, autism spectrum disorder, and schizophrenia...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317598/enriched-expression-of-genes-associated-with-autism-spectrum-disorders-in-human-inhibitory-neurons
#11
Ping Wang, Dejian Zhao, Herbert M Lachman, Deyou Zheng
Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The affected neural circuits and cell types remain unclear and may vary at different developmental stages. By analyzing multiple sets of human single cell transcriptome profiles, we found that ASD candidates showed relatively enriched gene expression in neurons, especially in inhibitory neurons. ASD candidates were also more likely to be the hubs of the co-expression gene module that is highly expressed in inhibitory neurons, a feature not detected for excitatory neurons...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317220/acamprosate-rescues-neuronal-defects-in-the-drosophila-model-of-fragile-x-syndrome
#12
Russell L Hutson, Rachel L Thompson, Andrew P Bantel, Charles R Tessier
AIMS: Several off-label studies have shown that acamprosate can provide some clinical benefits in youth with Fragile X Syndrome (FXS), an autism spectrum disorder caused by loss of function of the highly conserved FMR1 gene. This study investigated the ability of acamprosate to rescue cellular, molecular and behavioral defects in the Drosophila model of FXS. MAIN METHODS: A high (100μM) and low (10μM) dose of acamprosate was fed to Drosophila FXS (dfmr1 null) or genetic control (w1118) larvae and then analyzed in multiple paradigms...
January 6, 2018: Life Sciences
https://www.readbyqxmd.com/read/29313177/high-functioning-autism-spectrum-disorders-in-adults-consequences-for-primary-caregivers-compared-to-schizophrenia-and-depression
#13
Inge A C Grootscholten, Bob van Wijngaarden, Cornelis C Kan
Primary caregivers experience consequences from being in close contact to a person with autism spectrum disorder (ASD). This study used the Involvement Evaluation Questionnaire to explore the level of consequences of 104 caregivers involved with adults with High Functioning ASD (HF-ASD) and compared these with the consequences reported by caregivers of patients suffering from depression and schizophrenia. Caregivers involved with adults with an HF-ASD experience overall consequences comparable to those involved with patients with depression or schizophrenia...
January 8, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29306985/children-with-autism-spectrum-disorder-have-unstable-neural-responses-to-sound
#14
Sebastian Otto-Meyer, Jennifer Krizman, Travis White-Schwoch, Nina Kraus
Autism spectrum disorder (ASD) is diverse, manifesting in a wide array of phenotypes. However, a consistent theme is reduced communicative and social abilities. Auditory processing deficits have been shown in individuals with ASD-these deficits may play a role in the communication difficulties ASD individuals experience. Specifically, children with ASD have delayed neural timing and poorer tracking of a changing pitch relative to their typically developing peers. Given that accurate processing of sound requires highly coordinated and consistent neural activity, we hypothesized that these auditory processing deficits stem from a failure to respond to sound in a consistent manner...
January 6, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29289438/comparison-of-spontaneously-elicited-language-patterns-in-specific-language-impairment-and-high-functioning-autism
#15
Megan Craig, Doris Trauner
BACKGROUND: We aimed to characterize differences in the use of language in children with specific language impairment and high-functioning autism by analyzing verbal responses on standardized tests. The overall goal was to provide clinicians with additional tools with which to aid in distinguishing the two neurodevelopmental disorders. MATERIALS AND METHODS: This study included 16 children with specific language impairment, 28 children with high-functioning autism, and 52 typically developing participants between the ages of six and 14...
October 5, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29287877/evaluation-and-remediation-of-central-auditory-processing-disorders-in-children-with-autism-spectrum-disorders
#16
Hesham Kozou, Hanan Galal Azouz, Rania M Abdou, Alyaa Shaltout
OBJECTIVES: This study was carried out to assess various skills of central auditory processing (CAP) in children with autism spectrum disorders (ASD) and to evaluate the efficacy of auditory training in these children. METHODS: This study is a non-randomized clinical experiment. 30 high functioning ASD children aged from 7 to 12 years were included in the study. They underwent behavioral assessments of CAP skills with subsequent remediation by dichotic training therapy for the children who revealed dichotic deficits...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29286389/differentiation-of-mouse-embryonic-stem-cells-into-cortical-interneuron-precursors
#17
David J Tischfield, Stewart A Anderson
GABAergic cortical interneurons are a heterogeneous population of cells that play critical roles in regulating the output of excitatory pyramidal neurons as well as synchronizing the outputs of pyramidal neuron ensembles. Deficits in interneuron function have been implicated in a variety of neuropsychiatric disorders, including schizophrenia, autism, and epilepsy. The derivation of cortical interneurons from embryonic stem cells not only allows for the study of their development and function, but provides insight into the molecular mechanisms underlying the pathogenesis of cortical interneuron-related disorders...
December 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29284820/examining-discrepancy-between-performance-on-traditional-measures-and-parent-report-measure-of-executive-functioning-in-autism-spectrum-disorder
#18
Itisha Nagar, Ashum Gupta
There is a growing concern amongst the researchers regarding the ecological validity of the neuropsychological tests used to assess EF in ASD. Traditional EF tests have been criticized for not being unable to tap real-life scenarios that are relevant to and representative of everyday behavior. The present study aimed to examine any potential discrepancy between performance on traditional measures of executive function and behavioural expressions of EF in case of an individual with High Functioning Autism (HFA)...
November 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29282644/a-case-of-nephrogenic-syndrome-of-inappropriate-antidiuresis-caused-by-carbamazepine
#19
Naoko Sekiya, Midori Awazu
We report a case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine (CBZ). CBZ, an antiepileptic drug, is known to cause hyponatremia. The mechanism is generally considered to be inappropriate secretion of antidiuretic hormone, whereas an experimental study suggests a direct effect of CBZ on the kidney by stimulating vasopressin receptor. An 18-year-old male with atypical autism and epilepsy has been treated with CBZ and clobazam since age 9 and 10 years, respectively. At age 11, he was found to have asymptomatic hyponatremia...
December 27, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29280714/specific-sensory-techniques-and-sensory-environmental-modifications-for-children-and-youth-with-sensory-integration-difficulties-a-systematic-review
#20
Stefanie C Bodison, L Diane Parham
This systematic review examined the effectiveness of specific sensory techniques and sensory environmental modifications to improve participation of children with sensory integration (SI) difficulties. Abstracts of 11,436 articles published between January 2007 and May 2015 were examined. Studies were included if designs reflected high levels of evidence, participants demonstrated SI difficulties, and outcome measures addressed function or participation. Eight studies met inclusion criteria. Seven studies evaluated effects of specific sensory techniques for children with autism spectrum disorder (ASD) or attention deficit hyperactivity disorder: Qigong massage, weighted vests, slow swinging, and incorporation of multisensory activities into preschool routines...
January 2018: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
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