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Autism in childhood

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https://www.readbyqxmd.com/read/28334080/cortical-thickness-abnormalities-in-autism-spectrum-disorders-through-late-childhood-adolescence-and-adulthood-a-large-scale-mri-study
#1
Budhachandra S Khundrakpam, John D Lewis, Penelope Kostopoulos, Felix Carbonell, Alan C Evans
Neuroimaging studies in autism spectrum disorders (ASDs) have provided inconsistent evidence of cortical abnormality. This is probably due to the small sample sizes used in most studies, and important differences in sample characteristics, particularly age, as well as to the heterogeneity of the disorder. To address these issues, we assessed abnormalities in ASD within the Autism Brain Imaging Data Exchange data set, which comprises data from approximately 1100 individuals (~6-55 years). A subset of these data that met stringent quality control and inclusion criteria (560 male subjects; 266 ASD; age = 6-35 years) were used to compute age-specific differences in cortical thickness in ASD and the relationship of any such differences to symptom severity of ASD...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#2
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317113/temperamental-markers-in-toddlers-with-autism-spectrum-disorder
#3
Suzanne L Macari, Judah Koller, Daniel J Campbell, Katarzyna Chawarska
BACKGROUND: Although temperament has been recognized as an important contributor to childhood psychopathology, its role in emergent autism spectrum phenotypes is not well understood. This study examined whether toddlers with autism spectrum disorder (ASD) display temperamental vulnerabilities compared to toddlers with other developmental challenges, whether these characteristics are distinct from core autism symptoms, if they are stable over time, and if they contribute to social outcomes in preschool...
March 20, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28316769/etiological-influences-on-the-stability-of-autistic-traits-from-childhood-to-early-adulthood-evidence-from-a-twin-study
#4
Mark J Taylor, Christopher Gillberg, Paul Lichtenstein, Sebastian Lundström
BACKGROUND: Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors. METHODS: Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28303423/theory-of-mind-predominantly-associated-with-the-quality-not-quantity-of-pretend-play-in-children-with-autism-spectrum-disorder
#5
Shu-Kai Lin, Ching-Hong Tsai, Hsing-Jung Li, Chien-Yu Huang, Kuan-Lin Chen
This study aimed to clarify the relationships between theory of mind and pretend play in children with autism spectrum disorder, using refined assessments of theory of mind and pretend play while controlling for autistic behaviors and verbal comprehension. A total of 92 children with autism spectrum disorder aged 4-10 years were enrolled. In two visits, the children were assessed with the Theory of Mind Task Battery, the Child-Initiated Pretend Play Assessment, the Childhood Autism Rating Scale, and the Verbal Comprehension Index of the Wechsler Intelligence Scales, respectively, for their theory of mind, pretend play performance, autistic behaviors, and verbal comprehension...
March 16, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28296516/eye-disorders-among-adult-people-diagnosed-with-infantile-autism-in-childhood-a-longitudinal-case-control-study
#6
Svend Erik Mouridsen, Bente Rich, Torben Isager
PURPOSE: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population. METHODS: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period...
March 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28292384/association-of-learning-and-memory-calcineurin-binding-protein-with-autism-spectrum-disorders
#7
Abdulrahman Mohammed Alhowikan, Laila Y. Al- ayadhi, Adel Q. Alkhedaide
OBJECTIVE: To determine the association of learning and memory calcineurin binding (CABIN1) protein with autism spectrum disorders. STUDY DESIGN: Cross-sectional comparative study. PLACE AND DURATION OF STUDY: The Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Saudi Arabia, from October 2013 to May 2014. METHODOLOGY: Serum levels of CABIN1 protein in 62 (64%) autistic male children were analysed and 35 (36%) age healthy children measured by using ELISA...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28291262/effects-of-bumetanide-on-neurobehavioral-function-in-children-and-adolescents-with-autism-spectrum-disorders
#8
E Lemonnier, N Villeneuve, S Sonie, S Serret, A Rosier, M Roue, P Brosset, M Viellard, D Bernoux, S Rondeau, S Thummler, D Ravel, Y Ben-Ari
In animal models of autism spectrum disorder (ASD), the NKCC1 chloride-importer inhibitor bumetanide restores physiological (Cl(-))i levels, enhances GABAergic inhibition and attenuates electrical and behavioral symptoms of ASD. In an earlier phase 2 trial; bumetanide reduced the severity of ASD in children and adolescents (3-11 years old). Here we report the results of a multicenter phase 2B study primarily to assess dose/response and safety effects of bumetanide. Efficacy outcome measures included the Childhood Autism Rating Scale (CARS), the Social Responsive Scale (SRS) and the Clinical Global Impressions (CGI) Improvement scale (CGI-I)...
March 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28285251/neurodevelopmental-disorders-in-young-violent-offenders-overlap-and-background-characteristics
#9
Eva Billstedt, Henrik Anckarsäter, Märta Wallinius, Björn Hofvander
Neurodevelopmental disorders (Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), tic disorder, intellectual disability (ID)), in prison populations have received increased attention but the focus has generally been on one single condition leaving out the global picture. This study assessed the prevalence and overlap of neurodevelopmental disorders (NDD) in a consecutive cohort (n=270) of young adult male offenders (age 18-25 years), sentenced for "hands-on" violent offences and serving prison time in Swedish prisons...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28283808/candidate-biomarkers-in-children-with-autism-spectrum-disorder-a-review-of-mri-studies
#10
REVIEW
Dongyun Li, Hans-Otto Karnath, Xiu Xu
Searching for effective biomarkers is one of the most challenging tasks in the research field of Autism Spectrum Disorder (ASD). Magnetic resonance imaging (MRI) provides a non-invasive and powerful tool for investigating changes in the structure, function, maturation, connectivity, and metabolism of the brain of children with ASD. Here, we review the more recent MRI studies in young children with ASD, aiming to provide candidate biomarkers for the diagnosis of childhood ASD. The review covers structural imaging methods, diffusion tensor imaging, resting-state functional MRI, and magnetic resonance spectroscopy...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28283256/celiac-disease-is-associated-with-childhood-psychiatric-disorders-a-population-based-study
#11
Agnieszka Butwicka, Paul Lichtenstein, Louise Frisén, Catarina Almqvist, Henrik Larsson, Jonas F Ludvigsson
OBJECTIVES: To determine the risk of future childhood psychiatric disorders in celiac disease, assess the association between previous psychiatric disorders and celiac disease in children, and investigate the risk of childhood psychiatric disorders in siblings of celiac disease probands. STUDY DESIGN: This was a nationwide registry-based matched cohort study in Sweden with 10 903 children (aged <18 years) with celiac disease and 12 710 of their siblings. We assessed the risk of childhood psychiatric disorders (any psychiatric disorder, psychotic disorder, mood disorder, anxiety disorder, eating disorder, psychoactive substance misuse, behavioral disorder, attention-deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and intellectual disability)...
March 7, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#12
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28258508/a-volumetric-and-functional-connectivity-mri-study-of-brain-arginine-vasopressin-pathways-in-autistic-children
#13
Xiao-Jing Shou, Xin-Jie Xu, Xiang-Zhu Zeng, Ying Liu, Hui-Shu Yuan, Yan Xing, Mei-Xiang Jia, Qing-Yun Wei, Song-Ping Han, Rong Zhang, Ji-Sheng Han
Dysfunction of brain-derived arginine-vasopressin (AVP) systems may be involved in the etiology of autism spectrum disorder (ASD). Certain regions such as the hypothalamus, amygdala, and hippocampus are known to contain either AVP neurons or terminals and may play an important role in regulating complex social behaviors. The present study was designed to investigate the concomitant changes in autistic behaviors, circulating AVP levels, and the structure and functional connectivity (FC) of specific brain regions in autistic children compared with typically developing children (TDC) aged from 3 to 5 years...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#14
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28256376/-autism-an-early-neurodevelopmental-disorder
#15
F Bonnet-Brilhault
With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i...
April 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28253736/identification-of-developmental-and-behavioral-markers-associated-with-genetic-abnormalities-in-autism-spectrum-disorder
#16
Somer L Bishop, Cristan Farmer, Vanessa Bal, Elise B Robinson, A Jeremy Willsey, Donna M Werling, Karoline Alexandra Havdahl, Stephan J Sanders, Audrey Thurm
OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci...
March 3, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28251352/haploinsufficiency-of-the-e3-ubiquitin-protein-ligase-gene-trip12-causes-intellectual-disability-with-or-without-autism-spectrum-disorders-speech-delay-and-dysmorphic-features
#17
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komara, Bassam R Ali, Elizabeth Roeder, Laura McAuley, Daniel S Roy, David K Manchester, Pilar Magoulas, Lauren E King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A Ward, Sau Wai Cheung, Weimin Bi, Christine M Eng, James R Lupski, Yaping Yang, Ankita Patel, Seema R Lalani, Fan Xia, Paweł Stankiewicz
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28237264/child-to-adult-neurodevelopmental-and-mental-health-trajectories-after-early-life-deprivation-the-young-adult-follow-up-of-the-longitudinal-english-and-romanian-adoptees-study
#18
Edmund J S Sonuga-Barke, Mark Kennedy, Robert Kumsta, Nicky Knights, Dennis Golm, Michael Rutter, Barbara Maughan, Wolff Schlotz, Jana Kreppner
BACKGROUND: Time-limited, early-life exposures to institutional deprivation are associated with disorders in childhood, but it is unknown whether effects persist into adulthood. We used data from the English and Romanian Adoptees study to assess whether deprivation-associated adverse neurodevelopmental and mental health outcomes persist into young adulthood. METHODS: The English and Romanian Adoptees study is a longitudinal, natural experiment investigation into the long-term outcomes of individuals who spent from soon after birth to up to 43 months in severe deprivation in Romanian institutions before being adopted into the UK...
February 22, 2017: Lancet
https://www.readbyqxmd.com/read/28229395/transcranial-magnetic-and-direct-current-stimulation-in-children
#19
REVIEW
Mustafa Q Hameed, Sameer C Dhamne, Roman Gersner, Harper L Kaye, Lindsay M Oberman, Alvaro Pascual-Leone, Alexander Rotenberg
Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28228185/knowledge-of-childhood-materiality-text-and-the-history-of-science-an-interdisciplinary-round-table-discussion
#20
Felix Rietmann, Mareike Schildmann, Caroline Arni, Daniel Thomas Cook, Davide Giuriato, Novina Göhlsdorf, Wangui Muigai
This round table discussion takes the diversity of discourse and practice shaping modern knowledge about childhood as an opportunity to engage with recent historiographical approaches in the history of science. It draws attention to symmetries and references among scientific, material, literary and artistic cultures and their respective forms of knowledge. The five participating scholars come from various fields in the humanities and social sciences and allude to historiographical and methodological questions through a range of examples...
February 23, 2017: British Journal for the History of Science
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