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Autism Spectrum Disorders

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https://www.readbyqxmd.com/read/29667272/different-brain-networks-underlying-intelligence-in-autism-spectrum-disorders
#1
Emmanuel Peng Kiat Pua, Charles B Malpas, Stephen C Bowden, Marc L Seal
There has been sustained clinical and cognitive neuroscience research interest in how network correlates of brain-behavior relationships might be altered in Autism Spectrum Disorders (ASD) and other neurodevelopmental disorders. As previous work has mostly focused on adults, the nature of whole-brain connectivity networks underlying intelligence in pediatric cohorts with abnormal neurodevelopment requires further investigation. We used network-based statistics (NBS) to examine the association between resting-state functional Magnetic Resonance Imaging (fMRI) connectivity and fluid intelligence ability in male children (n = 50) with Autism Spectrum Disorders (ASD; M = 10...
April 17, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29665782/a-direct-regulatory-link-between-microrna-137-and-shank2-implications-for-neuropsychiatric-disorders
#2
Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A Rappold
BACKGROUND: Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show convergence on several levels, as they are both expressed at the synapse, influence neuronal development, and have a strong link to neurodevelopmental and neuropsychiatric disorders like intellectual disability, autism, and schizophrenia. This compiled evidence raised the question if the SHANKs might be targets of miR-137...
April 17, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29664768/determinants-of-parent-satisfaction-with-emergency-or-urgent-care-when-the-patient-has-autism
#3
Sarah F Kirsch, David L Meryash, Bárbara González-Arévalo
OBJECTIVE: The purpose of this study was to identify factors that predict parent satisfaction (PS) with their child with autism spectrum disorder (ASD)'s visit to a hospital emergency department (ED) or urgent care (UC) center. METHODS: Parents recruited through a national database whose child (3-21 years; N = 378) with ASD had been treated in an ED/UC center within the previous 3 years completed an anonymous on-line questionnaire. They answered questions about whether they were satisfied overall with the visit and the care provided, their demographics, patient characteristics, their expectations and preparation for the visit, and the ED/UC center experience itself, including their observations of staff interpersonal and communication skills (ICSs) and behaviors, and whether the patient was disruptive (D)...
April 16, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29663862/dynamics-and-structural-stability-effects-of-germline-pten-mutations-associated-with-cancer-versus-autism-phenotypes
#4
Iris Nira Smith, Stetson Thacker, Ritika Jaini, Charis Eng
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation...
April 17, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29663191/older-adults-with-autism-spectrum-disorders-in-sweden-a-register-study-of-diagnoses-psychiatric-care-utilization-and-psychotropic-medication-of-601-individuals
#5
Lena Nylander, Anna Axmon, Petra Björne, Gerd Ahlström, Christopher Gillberg
In a Swedish sample of persons eligible for disability services and aged 55 years or older in 2012, persons (n = 601) with autism spectrum disorder diagnoses registered in specialist care were identified. Register data concerning diagnoses of other psychiatric disorders, psychiatric care, and psychiatric medication were reviewed. More than 60% had been in contact with psychiatric care. The majority had no intellectual disability (ID) diagnosis recorded during the study period. Apart from ID, affective disorders, anxiety and psychotic disorders were most commonly registered; alcohol/substance abuse disorders were uncommon...
April 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29662721/neural-mechanisms-of-qigong-sensory-training-massage-for-children-with-autism-spectrum-disorder-a-feasibility-study
#6
Kristin K Jerger, Laura Lundegard, Aaron Piepmeier, Keturah Faurot, Amanda Ruffino, Margaret A Jerger, Aysenil Belger
Objectives: Despite the enormous prevalence of autism spectrum disorder (ASD), its global impact has yet to be realized. Millions of families worldwide need effective treatments to help them get through everyday challenges like eating, sleeping, digestion, and social interaction. Qigong Sensory Training (QST) is a nonverbal, parent-delivered intervention recently shown to be effective at reducing these everyday challenges in children with ASD. This study tested the feasibility of a protocol for investigating QST's neural mechanism...
2018: Global Advances in Health and Medicine: Improving Healthcare Outcomes Worldwide
https://www.readbyqxmd.com/read/29662527/stimulant-withdrawal-in-a-child-with-autism-spectrum-disorder-and-adhd-a-case-report
#7
Aneta Krakowski, Abel Ickowicz
Objective: To consider whether the concepts of tolerance and withdrawal to stimulant medications apply to a preadolescent female, affected by autism spectrum disorder (ASD) and treated for associated attention-deficit/hyperactivity disorder (ADHD). Methods: We describe the case history and review scientific English language literature pertaining to acute withdrawal effects associated with methylphenidate and amphetamine derivatives in children. Results: An 11-year-old female with ASD and ADHD referred to our clinic experienced vomiting, headaches, and light sensitivity following abrupt discontinuation of methylphenidate; she subsequently presented with migraines and marked malaise immediately after a dose reduction in lisdexamfetamine...
April 2018: Journal of the Canadian Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/29661079/book-review-autism-spectrum-disorders-identification-education-and-treatment-zager-dianne-cihak-david-f-stone-macdonald-angi-eds-2017-autism-spectrum-disorders-identification-education-and-treatment-4th-ed-new-york-ny-routledge-458-pp-us-69-95-isbn-978-1-138
#8
https://www.readbyqxmd.com/read/29661042/identification-and-drawing-of-early-concepts-in-children-with-autism-spectrum-disorder-and-children-without-disability
#9
John W McCarthy, Joann P Benigno, Jamie Broach, Jamie B Boster, Bridget M Wright
This comparative study is a replication and extension of previous work related to children's drawings of early concepts. In all, 15 children with autism spectrum disorder (ASD) and 19 children without disability took part in the study, and were video recorded as they drew 10 early emerging concepts such as "eat" and "more." In a second task, the participants were asked to label Picture Communication Symbols conventionally used in augmentative and alternative communication (AAC) systems. Descriptive, correlational, and inferential statistics were used to analyze the data...
April 16, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29660967/a-call-for-implementing-preferred-practices-for-brain-injury-screening-in-youth-to-improve-transition
#10
Drew A Nagele, Melissa McCart, Stephen R Hooper
BACKGROUND: It is vital to engage in systematic screening to identify and serve children who may have sustained an acquired brain injury (ABI) - either traumatic or non-traumatic, so they can be successfully transitioned between environments and life stages. This is particularly important for children and adolescents given the impact an ABI can have on learning and social functioning over the course of the neurodevelopmental process. A pattern of repeated, undiagnosed mild brain injuries may lead to mood or behavior disorders, learning problems...
April 7, 2018: NeuroRehabilitation
https://www.readbyqxmd.com/read/29660215/polygenic-risk-for-psychiatric-disorders-correlates-with-executive-function-in-typical-development
#11
Andrew J Schork, Timothy T Brown, Donald J Hagler, Wesley K Thompson, Chi-Hua Chen, Anders M Dale, Terry L Jernigan, Natacha Akshoomoff
Executive functions are a diverse and critical suite of cognitive abilities that are often disrupted in individuals with psychiatric disorders. Despite their moderate to high heritability, little is known about the molecular genetic factors that contribute to variability in executive function and how these factors may be related to those that predispose to psychiatric illness. We examined the relationship between polygenic risk scores built from large genome-wide association studies of psychiatric illness and executive functioning in typically developing children...
April 16, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29659141/risk-and-protective-factors-underlying-depression-and-suicidal-ideation-in-autism-spectrum-disorder
#12
Darren Hedley, Mirko Uljarević, Kitty-Rose Foley, Amanda Richdale, Julian Trollor
BACKGROUND: People with Autism Spectrum Disorder (ASD) are at significantly increased risk of suicidal thoughts and behavior. Given that social difficulties in ASD often lead to social isolation, which can in turn increase the risk for depression, this study examined loneliness and social support as potential risk and protective factors associated with depression and suicidal ideation. METHOD: The sample comprised 185 people (92 females) with ASD aged 14 to 80 years who were participating in a national survey...
April 16, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29657509/a-tensor-statistical-model-for-quantifying-dynamic-functional-connectivity
#13
Yingying Zhu, Xiaofeng Zhu, Minjeong Kim, Jin Yan, Guorong Wu
Functional connectivity (FC) has been widely investigated in many imaging-based neuroscience and clinical studies. Since functional Magnetic Resonance Image (MRI) signal is just an indirect reflection of brain activity, it is difficult to accurately quantify the FC strength only based on signal correlation. To address this limitation, we propose a learning-based tensor model to derive high sensitivity and specificity connectome biomarkers at the individual level from resting-state fMRI images. First, we propose a learning-based approach to estimate the intrinsic functional connectivity...
June 2017: Information Processing in Medical Imaging: Proceedings of the ... Conference
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#14
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29655969/affiliate-stigma-and-depression-in-caregivers-of-children-with-autism-spectrum-disorders-in-china-effects-of-self-esteem-shame-and-family-functioning
#15
Ting Zhou, Yiting Wang, Chunli Yi
The present study aimed to investigate affiliate stigma and depression in caregivers of children with Autism Spectrum Disorders (ASD) in China and to examine the predictive effects of self-esteem, shame proneness and family functioning. Two hundred and sixty-three primary caregivers of children with autism in Mainland China participated in the survey. The results suggested that affiliate stigma in caregivers of children with autism was prevalent and severe; their depressive symptoms were significantly more severe than the national norm of the similar age group...
April 3, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29655594/no-effect-of-prenatal-vitamin-d-deficiency-on-autism-relevant-behaviours-in-multiple-inbred-strains-of-mice
#16
M Langguth, M Fassin, S Alexander, K M Turner, T H J Burne
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders commonly characterised by verbal and non-verbal communication deficits, impaired social interaction and repetitive, stereotypic behaviours. The aetiology of ASD is most likely a combination of genetic and environmental factors. Epidemiological evidence suggests that prenatal vitamin D deficiency is associated with an increased incidence of ASD. The overall aim of this study was to investigate prenatal vitamin D deficiency on ASD-related behavioural phenotypes in multiple inbred strains of mice...
April 12, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29655507/response-to-name-and-its-value-for-the-early-detection-of-developmental-disorders-insights-from-autism-spectrum-disorder-rett-syndrome-and-fragile-x-syndrome-a-perspectives-paper
#17
Dajie Zhang, Laura Roche, Katrin D Bartl-Pokorny, Magdalena Krieber, Laurie McLay, Sven Bölte, Luise Poustka, Jeff Sigafoos, Markus Gugatschka, Christa Einspieler, Peter B Marschik
BACKGROUND: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. AIMS: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes. METHODS AND PROCEDURES: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies...
April 11, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29652216/psychophysiological-measures-of-stress-in-caregivers-of-individuals-with-autism-spectrum-disorder-a-systematic-review
#18
Ciara Padden, Carolina Concialdi-McGlynn, Sinead Lydon
PURPOSE: Parents of children with autism spectrum disorder (ASD) often self-report heightened levels of stress and physical health problems. This paper reviewed studies assessing physiological measures of stress among parents of children with ASD. METHODS: Systematic database searches identified 15 studies meeting inclusion criteria. Studies were reviewed to determine: (a) control group characteristics; (b) caregiver and care recipient characteristics; (c) setting; (d) physiological measures employed; (e) physiological outcomes; and (f) stressor type...
April 13, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29651777/cost-effectiveness-of-genome-and-exome-sequencing-in-children-diagnosed-with-autism-spectrum-disorder
#19
Tracy Yuen, Melissa T Carter, Peter Szatmari, Wendy J Ungar
BACKGROUND: Genome (GS) and exome sequencing (ES) could potentially identify pathogenic variants with greater sensitivity than chromosomal microarray (CMA) in autism spectrum disorder (ASD) but are costlier and result interpretation can be uncertain. Study objective was to compare the costs and outcomes of four genetic testing strategies in children with ASD. METHODS: A microsimulation model estimated the outcomes and costs (in societal and public payer perspectives in Ontario, Canada) of four genetic testing strategies: CMA for all, CMA for all followed by ES for those with negative CMA and syndromic features (CMA+ES), ES or GS for all...
April 12, 2018: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/29651681/higher-autistic-traits-among-criminals-but-no-link-to-psychopathy-findings-from-a-high-security-prison-in-portugal
#20
Diana Loureiro, Ana Machado, Tânia Silva, Tânia Veigas, Carlos Ramalheira, Joaquim Cerejeira
The relationship between autism, criminality and psychopathy has gained increased attention in recent years, although research has focused on autism spectrum disorders, and not autistic traits. We measured autistic traits (with the Autism Spectrum Quotient) in a sample of 101 inmates from a high-security prison and compared them to a control group, using a logistic regression model that included age, education, psychopathology, psychopathy and attention deficit-hyperactivity disorder as covariates. Prisoners had more autistic traits (OR 1...
April 12, 2018: Journal of Autism and Developmental Disorders
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