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Autism, developmental disorders

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https://www.readbyqxmd.com/read/27906524/the-development-of-autism-spectrum-disorders-variability-and-causal-complexity
#1
REVIEW
Robert H Wozniak, Nina B Leezenbaum, Jessie B Northrup, Kelsey L West, Jana M Iverson
The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene × environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27896942/mid-childhood-outcomes-of-infant-siblings-at-familial-high-risk-of-autism-spectrum-disorder
#2
Elizabeth Shephard, Bosiljka Milosavljevic, Greg Pasco, Emily J H Jones, Teodora Gliga, Francesca Happé, Mark H Johnson, Tony Charman
Almost one-in-five infants at high familial risk for autism spectrum disorder (ASD), due to having an older sibling with an ASD diagnosis, develop ASD themselves by age 3 years. Less is known about the longer-term outcomes of high-risk infants. To address this issue, we examined symptoms of ASD and associated developmental conditions (attention-deficit/hyperactivity disorder (ADHD); anxiety), language, IQ, and adaptive behaviour at age 7 years in high- and low-risk children studied from infancy. We compared outcomes between high-risk children who met criteria for ASD at age 7, high-risk children without ASD, and low-risk control children...
November 29, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27895883/alexithymia-but-not-autism-spectrum-disorder-may-be-related-to-the-production-of-emotional-facial-expressions
#3
Dominic A Trevisan, Marleis Bowering, Elina Birmingham
BACKGROUND: A prominent diagnostic criterion of autism spectrum disorder (ASD) relates to the abnormal or diminished use of facial expressions. Yet little is known about the mechanisms that contribute to this feature of ASD. METHODS: We showed children with and without ASD emotionally charged video clips in order to parse out individual differences in spontaneous production of facial expressions using automated facial expression analysis software. RESULTS: Using hierarchical multiple regression, we sought to determine whether alexithymia (characterized by difficulties interpreting one's own feeling states) contributes to diminished facial expression production...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27894357/new-insights-into-the-generation-and-role-of-de-novo-mutations-in-health-and-disease
#4
REVIEW
Rocio Acuna-Hidalgo, Joris A Veltman, Alexander Hoischen
Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically. Recent genome and exome sequencing studies of parent-offspring trios have provided the first insights into the number and distribution of these de novo mutations in health and disease, pointing to risk factors that increase their number in the offspring. De novo mutations have been shown to be a major cause of severe early-onset genetic disorders such as intellectual disability, autism spectrum disorder, and other developmental diseases...
November 28, 2016: Genome Biology
https://www.readbyqxmd.com/read/27892236/1-in-100-babies-the-fetal-alcohol-spectrum-disorder-pathway
#5
Kerry Lyons
Alcohol consumed during pregnancy is the nation's leading preventable cause of developmental disabilities and birth defects. One in 100 babies is estimated to be born with alcohol-related damage, according to the World Health Organization. Fetal alcohol spectrum disorders (FASDs) are more common than autism but are under-diagnosed.
November 23, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27891471/comparison-of-gingival-health-and-salivary-parameters-among-autistic-and-non-autistic-school-children-in-riyadh
#6
Hafez M Diab, Suha Saeed Motlaq, Amal Alsharare, Ashwaq Alshammery, Nadia Alshammery, Shabnam Gulzar Khawja, Altaf H Shah
INTRODUCTION: Autism is a neuro-developmental disorder which is manifested as impairment of social interaction, communication and a repetitive behaviour. Autism can obscure dental treatment for the affected patients; furthermore, children with autism commonly have destructive oral habits. AIM: The aims of this study were to evaluate the Modified Gingival Index (MGI), Plaque Index (PI), salivary pH and buffering capacity of the saliva among autistic children compared to normal children in Riyadh City that may provide baseline data to enable comparison and future planning of dental services for autistic children...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891212/the-role-of-sex-differential-biology-in-risk-for-autism-spectrum-disorder
#7
REVIEW
Donna M Werling
Autism spectrum disorder (ASD) is a developmental condition that affects approximately four times as many males as females, a strong sex bias that has not yet been fully explained. Understanding the causes of this biased prevalence may highlight novel avenues for treatment development that could benefit patients with diverse genetic backgrounds, and the expertise of sex differences researchers will be invaluable in this endeavor. In this review, I aim to assess current evidence pertaining to the sex difference in ASD prevalence and to identify outstanding questions and remaining gaps in our understanding of how males come to be more frequently affected and/or diagnosed with ASD...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27891068/can-mouse-imaging-studies-bring-order-to-autism-connectivity-chaos
#8
Adam Liska, Alessandro Gozzi
Functional Magnetic Resonance Imaging (fMRI) has consistently highlighted impaired or aberrant functional connectivity across brain regions of autism spectrum disorder (ASD) patients. However, the manifestation and neural substrates of these alterations are highly heterogeneous and often conflicting. Moreover, their neurobiological underpinnings and etiopathological significance remain largely unknown. A deeper understanding of the complex pathophysiological cascade leading to aberrant connectivity in ASD can greatly benefit from the use of model organisms where individual pathophysiological or phenotypic components of ASD can be recreated and investigated via approaches that are either off limits or confounded by clinical heterogeneity...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#9
J Domínguez-Carral, F J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#10
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27885547/identifying-high-ability-children-with-dsm-5-autism-spectrum-or-social-communication-disorder-performance-on-autism-diagnostic-instruments
#11
Megan Foley-Nicpon, Staci L Fosenburg, Kristin G Wurster, Susan G Assouline
This study was a replication of Mazefsky et al.'s (Journal of Autism and Developmental Disabilities 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis...
November 24, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27884424/vision-as-a-beachhead
#12
REVIEW
David J Heeger, Marlene Behrmann, Ilan Dinstein
When neural circuits develop abnormally due to different genetic deficits and/or environmental insults, neural computations and the behaviors that rely on them are altered. Computational theories that relate neural circuits with specific quantifiable behavioral and physiological phenomena, therefore, serve as extremely useful tools for elucidating the neuropathological mechanisms that underlie different disorders. The visual system is particularly well suited for characterizing differences in neural computations; computational theories of vision are well established, and empirical protocols for measuring the parameters of those theories are well developed...
September 29, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27879968/can-urinary-indolylacroylglycine-iag-levels-be-used-to-determine-whether-children-with-autism-will-benefit-from-dietary-intervention
#13
Julie Wilson, Barry Wright, Sandra Jost, Robert Smith, Helen Pearce, Sally Richardson
BACKGROUND: An increase in urinary indolyl-3-acryloylglycine (IAG) has been reported in children with ASD who suffer with bowel problems in comparison to ASD children without gastrointestinal (GI) problems. The case for dietary intervention for ASD children with GI symptoms might be strengthened were such a difference to be autism-specific. METHODS: Quantitative analysis of urinary IAG levels was performed for 53 children on the autism spectrum and 146 age-matched controls...
November 23, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27876688/online-concerns-of-parents-suspecting-autism-spectrum-disorder-in-their-child-content-analysis-of-signs-and-automated-prediction-of-risk
#14
Ayelet Ben-Sasson, Elad Yom-Tov
BACKGROUND: Online communities are used as platforms by parents to verify developmental and health concerns related to their child. The increasing public awareness of autism spectrum disorders (ASD) leads more parents to suspect ASD in their child. Early identification of ASD is important for early intervention. OBJECTIVE: To characterize the symptoms mentioned in online queries posed by parents who suspect that their child might have ASD and determine whether they are age-specific...
November 22, 2016: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/27876343/implications-of-the-idea-of-neurodiversity-for-understanding-the-origins-of-developmental-disorders
#15
REVIEW
Nobuo Masataka
Neurodiversity, a term initially used mostly by civil and human rights movements since the 1990s, refers to the notion that cognitive as well as emotional properties characteristic of developmental disorders such as autism spectrum disorders (ASD) are not necessarily deficits, but fall within normal behavioural variations exhibited by humans. The purpose of the present article is to examine the relevance of this notion to scientific research on ASD. On the assumption that one crucial survival advantage of intelligent activity is vigilance toward dangers in the external world, and such vigilance must work in the social domain as well as in the non-social domain, the author argues that the pattern of operation of an individual person's mind can be categorized according to the domain toward which that individual is more oriented...
November 9, 2016: Physics of Life Reviews
https://www.readbyqxmd.com/read/27875746/de-novo-and-inherited-scn8a-epilepsy-mutations-detected-by-gene-panel-analysis
#16
Kameryn M Butler, Cristina da Silva, Yuval Shafir, James D Weisfeld-Adams, John J Alexander, Madhuri Hegde, Andrew Escayg
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory. METHODS: Sequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A...
November 6, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#17
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27874270/neurodevelopmental-disorders-are-highly-over-represented-in-children-with-obesity-a-cross-sectional-study
#18
Elisabet Wentz, Anna Björk, Jovanna Dahlgren
OBJECTIVE: To investigate prevalence of neurodevelopmental disorders in children with obesity and to compare body mass index (BMI) and metabolic profile in the children. METHODS: Seventy-six children (37 girls, 39 boys) were consecutively recruited from a university outpatient clinic specialized in severe obesity. Neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental coordination disorder (DCD) were assessed using interviews and questionnaires...
November 22, 2016: Obesity
https://www.readbyqxmd.com/read/27873140/cross-cultural-validity-of-the-social-communication-questionnaire-for-adults-with-intellectual-developmental-disorder
#19
Tanja Sappok, Whitney Brooks, Manuel Heinrich, Jane McCarthy, Lisa Underwood
Diagnosing Autism Spectrum Disorders (ASD) is important throughout the lifespan. The objective was to investigate the transcultural diagnostic validity of the Social Communication Questionnaire (SCQ) in a clinical sample of 451 adults with Intellectual Developmental Disorder (IDD) with and without ASD in Germany, the U.S.A. and Great Britain. Variables associated with higher SCQ sum-scores were higher levels of IDD, male gender, a diagnosis of ASD and the study site (Germany > U.S.A > G.B.). An ROC analysis revealed a cut-score of 13, which resulted in a sensitivity of 0...
November 21, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27871670/convergence-of-sex-differences-and-the-neuroimmune-system-in-autism-spectrum-disorder
#20
REVIEW
Margaret M McCarthy, Christopher L Wright
The male bias in autism spectrum disorder incidence is among the most extreme of all neuropsychiatric disorders, yet the origins of the sex difference remain obscure. Developmentally, males are exposed to high levels of testosterone and its byproduct, estradiol. Together these steroids modify the course of brain development by altering neurogenesis, cell death, migration, differentiation, dendritic and axonal growth, synaptogenesis, and synaptic pruning, all of which can be deleteriously impacted during the course of developmental neuropsychiatric disorders...
October 11, 2016: Biological Psychiatry
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