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https://www.readbyqxmd.com/read/29896732/-clinical-phenotypes-and-genetic-study-of-2-cases-with-22q13-deletion-syndrome
#1
Jihang Luo, Di Fang, Wenjuan Qiu, Bing Xiao, Yanjie Fan, Jun Ye, Lianshu Han, Huiwen Zhang, Yongguo Yu, Lili Liang, Xuefan Gu
OBJECTIVE: To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD). METHODS: Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results. RESULTS: Patient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29890955/a-genome-wide-linkage-study-of-autism-spectrum-disorder-and-the-broad-autism-phenotype-in-extended-pedigrees
#2
Marc Woodbury-Smith, Andrew D Paterson, Irene O'Connor, Mehdi Zarrei, Ryan K C Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W Scherer, Veronica Vieland, Peter Szatmari
BACKGROUND: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees...
June 11, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29797620/spontaneous-resting-state-gamma-oscillations-are-not-predictive-of-autistic-traits-in-the-general-population
#3
Kristel De Groot, Jan W Van Strien
The autism spectrum hypothesis states that not only diagnosed individuals but also individuals from the general population exhibit a certain amount of autistic traits. While this idea is supported by neuroimaging studies, there have been few electrophysiological studies. Specifically, there have been no spontaneous resting-state studies yet. In order to examine the autism spectrum hypothesis, the present study tried to predict the level of autistic traits typically developing young adults (n = 93) exhibit from spontaneous resting-state gamma power, a measure that has been linked to social functioning impairments seen in autism...
May 24, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29785200/comparative-study-on-knowledge-about-autism-spectrum-disorder-among-paediatric-and-psychiatric-nurses-in-public-hospitals-in-kumasi-ghana
#4
Wireko-Gyebi Sampson, Ashiagbor Emelia Sandra
Background: Despite the existence of autism spectrum disorder in Ghana, few studies have provided the necessary information on the phenomenon. These studies have mostly focused on speech and language therapy for children and modification of classroom environment for children with autism spectrum disorder. This approach has resulted in a paucity of knowledge on nurse's knowledge of autism spectrum disorder in Ghana. Objective: The study sought to assess the knowledge of paediatric and psychiatric on autism spectrum disorder...
2018: Clinical Practice and Epidemiology in Mental Health: CP & EMH
https://www.readbyqxmd.com/read/29777977/creating-therapeutic-landscapes-at-home-the-experiences-of-families-of-children-with-autism
#5
Wasan Nagib, Allison Williams
This study explores the challenges faced within the home environment by North American families of children with autism. The study also examines the diversity and extent of physical modifications introduced by the families to alleviate these challenges. The concept of therapeutic landscapes is employed as a framework to examine how physical modifications transform the home environment into a place of healing for both the children with autism and their family members. Finally, the study offers a general design framework that can ultimately guide home designers and policymakers in developing friendly home environments for children with autism and their families...
May 16, 2018: Health & Place
https://www.readbyqxmd.com/read/29767376/evaluating-the-effectiveness-of-an-autism-specific-workplace-tool-for-employers-a-randomised-controlled-trial
#6
Melissa Scott, Marita Falkmer, Torbjörn Falkmer, Sonya Girdler
A randomised controlled trial evaluated the effectiveness of the Integrated Employment Success Tool (IEST™) in improving employers' self-efficacy in modifying the workplace for individuals on the autism spectrum. Employers (N = 84) were randomised to the IEST™ or support as usual groups. Measurements of self-efficacy, knowledge and attitudes towards disability in the workplace were obtained at baseline and post-test. Results revealed a significant improvement in self-efficacy within the IEST™ group between baseline and post-test (p = 0...
May 16, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29761539/-fat-is-really-a-four-letter-word-exploring-weight-related-communication-best-practices-in-children-with-and-without-disabilities-and-their-caregivers
#7
A C McPherson, T J Knibbe, M Oake, J A Swift, N Browne, G D C Ball, J Hamilton
BACKGROUND: Health care professionals play a critical role in preventing and managing childhood obesity, but the American Academy of Pediatrics recently stressed the importance of using sensitive and nonstigmatizing language when discussing weight with children and families. Although barriers to weight-related discussions are well known, there are few evidence-based recommendations around communication best practices. Disability populations in particular have previously been excluded from work in this area...
May 15, 2018: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29760771/systematic-review-cultural-adaptation-and-feasibility-of-screening-for-autism-in-non-english-speaking-countries
#8
REVIEW
Turkiya S Al Maskari, Craig A Melville, Diane S Willis
Background: Screening children for autism has gained wider acceptance within clinical practice, and early intervention has improved outcomes. Increasingly, adapting an existing screening instrument is a common, fast method to create a usable screening tool, especially for countries with limited resources and/or expertise. However, concerns have been raised regarding adaptation adequacy and the feasibility of screening across cultural groups. This study systematically examined the levels of cultural adaptation and feasibility aspects considered when screening for autism in non-English speaking countries to build upon the sparse knowledge that exists on this topic in the literature...
2018: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/29736781/combination-of-rs-fmri-and-smri-data-to-discriminate-autism-spectrum-disorders-in-young-children-using-deep-belief-network
#9
Maryam Akhavan Aghdam, Arash Sharifi, Mir Mohsen Pedram
In recent years, the use of advanced magnetic resonance (MR) imaging methods such as functional magnetic resonance imaging (fMRI) and structural magnetic resonance imaging (sMRI) has recorded a great increase in neuropsychiatric disorders. Deep learning is a branch of machine learning that is increasingly being used for applications of medical image analysis such as computer-aided diagnosis. In a bid to classify and represent learning tasks, this study utilized one of the most powerful deep learning algorithms (deep belief network (DBN)) for the combination of data from Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) datasets...
May 7, 2018: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/29734506/predictors-of-quality-of-life-for-autistic-adults
#10
David Mason, Helen McConachie, Deborah Garland, Alex Petrou, Jacqui Rodgers, Jeremy R Parr
Research with adults on the autism spectrum is as yet limited in scope and quality. The present study describes quality of life (QoL) of a large sample of autistic adults in the UK and investigates characteristics that may be predictive of QoL. A total of 370 autistic adults from the Adult Autism Spectrum Cohort-UK (ASC-UK) completed the WHOQoL-BREF, and the Social Responsiveness Scale (SRS, autism symptom severity), along with the ASC-UK registration questionnaire giving information on mental health and their life situation...
May 7, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29730505/a-comparison-of-functional-academic-and-daily-living-skills-in-males-with-fragile-x-syndrome-with-and-without-autism
#11
Melissa Raspa, Vitor Franco, Ellen Bishop, Anne C Wheeler, Amanda Wylie, Donald B Bailey
BACKGROUND: Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability. AIMS: The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions...
May 3, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29713442/hans-asperger-national-socialism-and-race-hygiene-in-nazi-era-vienna
#12
Herwig Czech
Background: Hans Asperger (1906-1980) first designated a group of children with distinct psychological characteristics as 'autistic psychopaths' in 1938, several years before Leo Kanner's famous 1943 paper on autism. In 1944, Asperger published a comprehensive study on the topic (submitted to Vienna University in 1942 as his postdoctoral thesis), which would only find international acknowledgement in the 1980s. From then on, the eponym 'Asperger's syndrome' increasingly gained currency in recognition of his outstanding contribution to the conceptualization of the condition...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29696935/impaired-hippocampal-synaptic-plasticity-and-enhanced-excitatory-transmission-in-a-novel-animal-model-of-autism-spectrum-disorders-with-telomerase-reverse-transcriptase-overexpression
#13
Jeehae Rhee, Kwanghoon Park, Ki Chan Kim, Chan Young Shin, ChiHye Chung
Recently, we have reported that animals with telomerase reverse transcriptase (TERT) overexpression exhibit reduced social interaction, decreased preference for novel social interaction and poor nest-building behaviors symptoms that mirror those observed in human autism spectrum disorders (ASD). Overexpression of TERT also alters the excitatory/inhibitory (E/I) ratio in the medial prefrontal cortex. However, the effects of TERT overexpression on hippocampal-dependent learning and synaptic efficacy have not been investigated...
May 31, 2018: Molecules and Cells
https://www.readbyqxmd.com/read/29671645/metacognitive-monitoring-and-the-hypercorrection-effect-in-autism-and-the-general-population-relation-to-autism-like-traits-and-mindreading
#14
David M Williams, Zara Bergström, Catherine Grainger
Among neurotypical adults, errors made with high confidence (i.e. errors a person strongly believed they would not make) are corrected more reliably than errors made with low confidence. This 'hypercorrection effect' is thought to result from enhanced attention to information that reflects a 'metacognitive mismatch' between one's beliefs and reality. In Experiment 1, we employed a standard measure of this effect. Participants answered general knowledge questions and provided confidence judgements about how likely each answer was to be correct, after which feedback was given...
April 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29657509/a-tensor-statistical-model-for-quantifying-dynamic-functional-connectivity
#15
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/29652216/psychophysiological-measures-of-stress-in-caregivers-of-individuals-with-autism-spectrum-disorder-a-systematic-review
#16
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/29644474/risk-factors-for-parental-psychopathology-a-study-in-families-with-children-or-adolescents-with-psychopathology
#17
L W Wesseldijk, G C Dieleman, F J A van Steensel, M Bartels, J J Hudziak, R J L Lindauer, S M Bögels, C M Middeldorp
The parents of children with psychopathology are at increased risk for psychiatric symptoms. To investigate which parents are mostly at risk, we assessed in a clinical sample of families with children with psychopathology, whether parental symptom scores can be predicted by offspring psychiatric diagnoses and other child, parent and family characteristics. Parental depressive, anxiety, avoidant personality, attention-deficit/hyperactivity (ADHD), and antisocial personality symptoms were measured with the Adult Self Report in 1805 mothers and 1361 fathers of 1866 children with a psychiatric diagnosis as assessed in a child and adolescent psychiatric outpatient clinic...
April 11, 2018: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29628271/functional-network-abnormalities-consistent-with-behavioral-profile-in-autism-spectrum-disorder
#18
René Besseling, Rolf Lamerichs, Britt Michels, Stephan Heunis, Anton de Louw, Anton Tijhuis, Jan Bergmans, Bert Aldenkamp
Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which the severity of symptoms varies over subjects. The iCAPs model (innovation-driven co-activation patterns) is a recently developed spatio-temporal model to describe fMRI data. In this study, the iCAPs model was employed to find functional imaging biomarkers for ASD in resting-state fMRI data. MRI data from 125 ASD patients and 243 healthy controls was selected from the online ABIDE data repository. Following standard fMRI preprocessing steps, the iCAP patterns were fitted to the data to obtain network time series...
May 30, 2018: Psychiatry research. Neuroimaging
https://www.readbyqxmd.com/read/29619645/parent-expectations-and-preparatory-activities-as-adolescents-with-asd-transition-to-adulthood
#19
Laura G Holmes, Anne V Kirby, Donald S Strassberg, Michael B Himle
Community stakeholders, researchers, and providers are increasingly focused on individual, family, and systemic factors that contribute to positive outcomes for adults on the autism spectrum. Parent expectations for their youth's future are associated with adult outcomes (e.g., employment, school success, independence), yet the mechanism for this effect remains unclear. This study investigated how expectations were related to parent transition-related activities in a sample of 298 parents of adolescents on the autism spectrum (48% female adolescents), stratified by parent-reported IQ (average or above, borderline, or below 70)...
April 4, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29610457/cntnap2-stabilizes-interneuron-dendritic-arbors-through-cask
#20
Ruoqi Gao, Nicolas H Piguel, Alexandria E Melendez-Zaidi, Maria Dolores Martin-de-Saavedra, Sehyoun Yoon, Marc P Forrest, Kristoffer Myczek, Gefei Zhang, Theron A Russell, John G Csernansky, D James Surmeier, Peter Penzes
Contactin associated protein-like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ). The presence of seizure comorbidity in many of these cases, as well as inhibitory neuron dysfunction in Cntnap2 knockout (KO) mice, suggests CNTNAP2 may be crucial for proper inhibitory network function. However, underlying cellular mechanisms are unclear. Here we show that cultured Cntnap2 KO mouse neurons exhibit an inhibitory neuron-specific simplification of the dendritic tree...
April 2, 2018: Molecular Psychiatry
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