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https://www.readbyqxmd.com/read/29681085/two-novel-cases-expanding-the-phenotype-of-setd2-related-overgrowth-syndrome
#1
Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, Sarina G Kant, Claudia Ruivenkamp, Arie van Haeringen, J Anneke Kievit, Martine J van Belzen
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5-year-old boy and a 23-year-old female adolescent with a speech and language developmental delay, autism spectrum disorder and macrocephaly, who were both diagnosed with SETD2-related overgrowth syndrome due to de novo frameshift mutations in the SETD2 gene...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29672866/the-development-of-autistic-social-traits-across-childhood-and-adolescence-in-males-and-females
#2
William Mandy, Liz Pellicano, Beate St Pourcain, David Skuse, Jon Heron
BACKGROUND: Autism is a dimensional condition, representing the extreme end of a continuum of social competence that extends throughout the general population. Currently, little is known about how autistic social traits (ASTs), measured across the full spectrum of severity, develop during childhood and adolescence, including whether there are developmental differences between boys and girls. Therefore, we sought to chart the trajectories of ASTs in the general population across childhood and adolescence, with a focus on gender differences...
April 19, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29664917/the-edinburgh-social-cognition-test-escot-examining-the-effects-of-age-on-a-new-measure-of-theory-of-mind-and-social-norm-understanding
#3
R Asaad Baksh, Sharon Abrahams, Bonnie Auyeung, Sarah E MacPherson
Current measures of social cognition have shown inconsistent findings regarding the effects of healthy aging. Moreover, no tests are currently available that allow clinicians and researchers to examine cognitive and affective theory of mind (ToM) and understanding of social norms within the same test. To address these limitations, we present the Edinburgh Social Cognition Test (ESCoT) which assesses cognitive and affective ToM and inter- and intrapersonal understanding of social norms. We examined the effects of age, measures of intelligence and the Broader Autism Phenotype (BAP) on the ESCoT and established tests of social cognition...
2018: PloS One
https://www.readbyqxmd.com/read/29662527/stimulant-withdrawal-in-a-child-with-autism-spectrum-disorder-and-adhd-a-case-report
#4
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/29659141/risk-and-protective-factors-underlying-depression-and-suicidal-ideation-in-autism-spectrum-disorder
#5
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/29655594/no-effect-of-prenatal-vitamin-d-deficiency-on-autism-relevant-behaviours-in-multiple-inbred-strains-of-mice
#6
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/29651330/analysis-of-neuroanatomical-differences-in-mice-with-genetically-modified-serotonin-transporters-assessed-by-structural-magnetic-resonance-imaging
#7
Jacob Ellegood, Yohan Yee, Travis M Kerr, Christopher L Muller, Randy D Blakely, R Mark Henkelman, Jeremy Veenstra-VanderWeele, Jason P Lerch
Background: The serotonin (5-HT) system has long been implicated in autism spectrum disorder (ASD) as indicated by elevated whole blood and platelet 5-HT, altered platelet and brain receptor and transporter binding, and genetic linkage and association findings. Based upon work in genetically modified mice, 5-HT is known to influence several aspects of brain development, but systematic neuroimaging studies have not previously been reported. In particular, the 5-HT transporter (serotonin transporter, SERT; 5-HTT) gene, Slc6a4 , has been extensively studied...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29619645/parent-expectations-and-preparatory-activities-as-adolescents-with-asd-transition-to-adulthood
#8
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/29610109/improvement-of-attention-deficit-hyperactivity-disorder-symptoms-in-school-aged-children-adolescents-and-young-adults-with-autism-via-a-digital-smartglasses-based-socioemotional-coaching-aid-short-term-uncontrolled-pilot-study
#9
Arshya Vahabzadeh, Neha U Keshav, Joseph P Salisbury, Ned T Sahin
BACKGROUND: People with autism spectrum disorder (ASD) commonly experience symptoms related to attention-deficit/hyperactivity disorder (ADHD), including hyperactivity, inattention, and impulsivity. One-third of ASD cases may be complicated by the presence of ADHD. Individuals with dual diagnoses face greater barriers to accessing treatment for ADHD and respond less positively to primary pharmacologic interventions. Nonpharmacologic technology-aided tools for hyperactivity and inattention in people with ASD are being developed, although research into their efficacy and safety remains limited...
March 24, 2018: JMIR Mental Health
https://www.readbyqxmd.com/read/29609622/16p11-2-microdeletion-syndrome-a-case-report
#10
D Dell'Edera, C Dilucca, A Allegretti, F Simone, M G Lupo, C Liccese, R Davanzo
BACKGROUND: The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION: Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents' DNA were analyzed by comparative genomic hybridization-array platform...
April 3, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29601216/sex-gender-differences-in-screening-for-autism-spectrum-disorder-implications-for-evidence-based-assessment
#11
Spencer C Evans, Andrea D Boan, Catherine Bradley, Laura A Carpenter
Autism spectrum disorder (ASD) is diagnosed more often in boys than in girls; however, little is known about the nature of this sex/gender discrepancy or how it relates to diagnostic assessment practices. This study examined the performance of the Social Communication Questionnaire (SCQ) in screening for ASD among boys and girls. Data were drawn from the South Carolina Children's Educational Surveillance Study, a population-based study of ASD prevalence among children 8-10 years of age. Analyses were conducted using SCQ data from 3,520 children, with direct assessment data from 272 with elevated SCQ scores...
March 30, 2018: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/29584599/alterations-of-white-matter-connectivity-in-preschool-children-with-autism-spectrum-disorder
#12
Shi-Jun Li, Yi Wang, Long Qian, Gang Liu, Shuang-Feng Liu, Li-Ping Zou, Ji-Shui Zhang, Nan Hu, Xiao-Qiao Chen, Sheng-Yuan Yu, Sheng-Li Guo, Ke Li, Mian-Wang He, Hai-Tao Wu, Jiang-Xia Qiu, Lei Zhang, Yu-Lin Wang, Xin Lou, Lin Ma
Purpose To investigate the topologic architecture of white matter connectivity networks in preschool-aged children with a diagnosis of autism spectrum disorder (ASD) versus typical development (TD). Materials and Methods Forty-two participants were enrolled, including 21 preschool children with ASD (14 male children and seven female children; mean age, 4.56 years ± 0.97 [standard deviation]) and 21 children with TD (11 males and 10 females; mean age, 5.13 years ± 0.82). The diagnosis of ASD was determined according to the Diagnostic and Statistical Manual of Mental Disorders Global Assessment of Functioning scores (mean score, 8...
March 27, 2018: Radiology
https://www.readbyqxmd.com/read/29582071/vaccination-patterns-in-children-after-autism-spectrum-disorder-diagnosis-and-in-their-younger-siblings
#13
Ousseny Zerbo, Sharareh Modaressi, Kristin Goddard, Edwin Lewis, Bruce H Fireman, Matthew F Daley, Stephanie A Irving, Lisa A Jackson, James G Donahue, Lei Qian, Darios Getahun, Frank DeStefano, Michael M McNeil, Nicola P Klein
Importance: In recent years, rates of vaccination have been declining. Whether this phenomenon disproportionately affects children with autism spectrum disorder (ASD) or their younger siblings is unknown. Objectives: To investigate if children after receiving an ASD diagnosis obtain their remaining scheduled vaccines according to the Advisory Committee on Immunization Practices (ACIP) recommendations and to compare the vaccination patterns of younger siblings of children with ASD with the vaccination patterns of younger siblings of children without ASD...
March 26, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29581266/cracking-the-social-code-of-speech-prosody-using-reverse-correlation
#14
Emmanuel Ponsot, Juan José Burred, Pascal Belin, Jean-Julien Aucouturier
Human listeners excel at forming high-level social representations about each other, even from the briefest of utterances. In particular, pitch is widely recognized as the auditory dimension that conveys most of the information about a speaker's traits, emotional states, and attitudes. While past research has primarily looked at the influence of mean pitch, almost nothing is known about how intonation patterns, i.e., finely tuned pitch trajectories around the mean, may determine social judgments in speech. Here, we introduce an experimental paradigm that combines state-of-the-art voice transformation algorithms with psychophysical reverse correlation and show that two of the most important dimensions of social judgments, a speaker's perceived dominance and trustworthiness, are driven by robust and distinguishing pitch trajectories in short utterances like the word "Hello," which remained remarkably stable whether male or female listeners judged male or female speakers...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29576931/gaze-following-is-related-to-the-broader-autism-phenotype-in-a-sex-specific-way-building-the-case-for-distinct-male-and-female-autism-phenotypes
#15
Elisabeth M Whyte, K Suzanne Scherf
The search for a female autism phenotype is difficult, given the low diagnostic rates in females. Here, we studied potential sex differences in a core feature of autism, difficulty with eye gaze processing, among typically developing individuals who vary in the broad autism phenotype, which includes autistic-like traits that are common, continuously distributed, and similarly heritable in males and females. Participants viewed complex images of an actor in a naturalistic scene looking at one of many possible objects and had to identify the target gazed-at object...
2018: Clinical Psychological Science
https://www.readbyqxmd.com/read/29573974/the-risk-of-neurodevelopmental-disorders-following-thimerosal-containing-hib-vaccine-in-comparison-to-thimerosal-free-hib-vaccine-administered-from-1995-to-1999-in-the-united-states
#16
David A Geier, Janet K Kern, Kristin G Homme, Mark R Geier
Investigators postulated that early-life exposure to organic mercury (Hg) significantly increases the risk of childhood neurodevelopmental disorders (NDs). The Vaccine Adverse Event Reporting System database was utilized to conduct a hypothesis testing case-control study by evaluating 3486 total adverse event reports reported following Haemophilus influenza type b (Hib) vaccination. Exposed subjects received a Thimerosal-containing formulation (HIBTITER™, Wyeth-Lederle), while unexposed subjects received a Thimerosal-free formulation (PEDVAXHIB™, Merck)...
March 14, 2018: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/29570782/childhood-neurodevelopmental-disorders-and-risk-of-coercive-sexual-victimization-in-childhood-and-adolescence-a-population-based-prospective-twin-study
#17
Vide Ohlsson Gotby, Paul Lichtenstein, Niklas Långström, Erik Pettersson
BACKGROUND: Autism spectrum disorder (ASD), Attention-deficit/Hyperactivity disorder (ADHD), and other related neurodevelopmental disorders (NDDs) have, in some previous studies, been shown to increase the risk of being sexually victimized. However, no studies have examined whether the association is driven by a general NDD phenotype versus specific diagnoses, nor the etiology of the association. METHOD: Using a genetically informative, prospective design, we examined the association between ASD and ADHD in childhood and coercive sexual victimization up to age 18...
March 23, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29568651/a-study-of-the-correlation-between-vep-and-clinical-severity-in-children-with-autism-spectrum-disorder
#18
Winai Sayorwan, Nutthida Phianchana, Kannika Permpoonputtana, Vorasith Siripornpanich
Visual evoked potential (VEP) is a technique used to assess the brain's electrical response to visual stimuli. The aims of this study were to examine neural transmission within the visual pathway through VEP testing in preschool children with autism spectrum disorder (ASD) and compare it to age-matched controls, as well as search for a correlation between the VEP parameters and the symptoms of ASD. Participants were composed of ASD children (9 males) and typically developing children (8 males and 4 females), aged between 3 and 5 years...
2018: Autism Research and Treatment
https://www.readbyqxmd.com/read/29554995/autistic-traits-in-a-sample-of-adult-patients-with-schizophrenia-prevalence-and-correlates
#19
S Barlati, G Deste, M Gregorelli, A Vita
BACKGROUND: Schizophrenia and autism spectrum disorder (ASD) are currently conceptualized as distinct disorders. However, the relationship between these two disorders has been revisited in recent years due to evidence that they share phenotypic and genotypic expressions. This study aimed to identify ASD traits in patients with schizophrenia, and to define their demographic, psychopathological, cognitive and functional correlates. METHOD: Seventy-five schizophrenia patients (20 females, mean age 42 ± 12) were evaluated with the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R)...
March 20, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29554540/cortical-responses-to-dynamic-emotional-facial-expressions-generalize-across-stimuli-and-are-sensitive-to-task-relevance-in-adults-with-and-without-autism
#20
Dorit Kliemann, Hilary Richardson, Stefano Anzellotti, Dima Ayyash, Amanda J Haskins, John D E Gabrieli, Rebecca R Saxe
Individuals with Autism Spectrum Disorders (ASD) report difficulties extracting meaningful information from dynamic and complex social cues, like facial expressions. The nature and mechanisms of these difficulties remain unclear. Here we tested whether that difficulty can be traced to the pattern of activity in "social brain" regions, when viewing dynamic facial expressions. In two studies, adult participants (male and female) watched brief videos of a range of positive and negative facial expressions, while undergoing functional magnetic resonance imaging (Study 1: ASD n = 16, control n = 21; Study 2: ASD n = 22, control n = 30)...
February 21, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
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