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Autism in childhood

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https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#1
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28917161/maternal-ssri-exposure-increases-the-risk-of-autistic-offspring-a-meta-analysis-and-systematic-review
#2
S Andalib, M R Emamhadi, S Yousefzadeh-Chabok, S K Shakouri, P F Høilund-Carlsen, M S Vafaee, T M Michel
BACKGROUND: Selective serotonin reuptake inhibitors (SSRIs) are the most common antidepressants used to preclude maternal pregnancy depression. There is a growing body of literature assessing the association of prenatal exposure to SSRIs with autism spectrum disorder (ASD). The present systematic review and meta-analysis reviewed the medical literature and pooled the results of the association of prenatal exposure to SSRIs with ASD. METHODS: Published investigations in English by June 2016 with keywords of selective serotonin reuptake inhibitors, SSRI, autism spectrum disorder, ASD, pregnancy, childhood, children, neurodevelopment were identified using databases PubMed and PMC, MEDLINE, EMBASE, SCOPUS, and Google Scholar...
June 20, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28915839/risk-of-mortality-among-children-adolescents-and-adults-with-autism-spectrum-disorder-or-attention-deficit-hyperactivity-disorder-and-their-first-degree-relatives-a-protocol-for-a-systematic-review-and-meta-analysis-of-observational-studies
#3
Ferrán Catalá-López, Brian Hutton, Matthew J Page, Manuel Ridao, Jane A Driver, Adolfo Alonso-Arroyo, Jaume Forés-Martos, Diego Macías Saint-Gerons, Eduard Vieta, Alfonso Valencia, Rafael Tabarés-Seisdedos
BACKGROUND: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are childhood onset neurodevelopmental disorders that may persist into adulthood. ASD and ADHD tend to run in families and may have a significant negative impact on the health and longevity of those with the disorder and their relatives. The aim of this study will be to analyze the risk of mortality among children, adolescents, and adults with ASD or ADHD and their first-degree relatives. METHODS/DESIGN: We will conduct a systematic review and meta-analysis of observational studies...
September 15, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#4
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28894950/autism-spectrum-disorder-an-early-and-frequent-feature-in-cerebrotendinous-xanthomatosis
#5
Bianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, Francjan J van Spronsen, Peter M van Hasselt, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD...
September 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#6
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28890936/object-play-in-infants-with-autism-spectrum-disorder-a-longitudinal-retrospective-video-analysis
#7
Kaitlyn P Wilson, Mary W Carter, Heather L Wiener, Margaret L DeRamus, John C Bulluck, Linda R Watson, Elizabeth R Crais, Grace T Baranek
BACKGROUND AND AIMS: Early play behaviors may provide important information regarding later-diagnosed developmental delays. Play behaviors of young children with autism spectrum disorder (ASD) are restricted in diversity, frequency, and complexity. Most ASD research focuses on play in children over 18 months of age. This study examined three groups of infants (later diagnosed with ASD, later diagnosed with other developmental disorders, and typically developing) with the aims of: (1) describing the play behaviors of the three groups of infants at two time points (9-12 months and 15-18 months); (2) examining group differences in four hierarchical levels of play at both time points; (3) comparing groups with respect to the highest level of play achieved; and (4) determining if the highest level of play achieved by infants with developmental delays, including ASD, correlated with later developmental outcomes...
January 2017: Autism Dev Lang Impair
https://www.readbyqxmd.com/read/28883746/clinical-impact-of-early-diagnosis-of-autism-on-the-prognosis-and-parent-child-relationships
#8
REVIEW
Jennifer Harrison Elder, Consuelo Maun Kreider, Susan N Brasher, Margaret Ansell
Autism spectrum disorder (ASD) refers to a lifelong condition that usually appears in late infancy or early childhood, and is characterized by social and communication deficits that impede optimal functioning. Despite widespread research and greater public awareness, ASD has an unclear etiology and no known cure, making it difficult to acquire accurate and timely diagnoses. In addition, once an ASD diagnosis is made, parents find it challenging to navigate the healthcare system and determine which interventions are most effective and appropriate for their child...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/28880200/the-endocannabinoid-system-and-autism-spectrum-disorders-insights-from-animal-models
#9
REVIEW
Erica Zamberletti, Marina Gabaglio, Daniela Parolaro
Autism spectrum disorder (ASD) defines a group of neurodevelopmental disorders whose symptoms include impaired communication and social interaction with restricted or repetitive motor movements, frequently associated with general cognitive deficits. Although it is among the most severe chronic childhood disorders in terms of prevalence, morbidity, and impact to the society, no effective treatment for ASD is yet available, possibly because its neurobiological basis is not clearly understood hence specific drugs have not yet been developed...
September 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28864845/delayed-diagnosis-and-treatment-among-children-with-autism-who-experience-adversity
#10
Kristin L Berg, Kruti Acharya, Cheng-Shi Shiu, Michael E Msall
The effects of family adverse childhood experiences (ACEs) on timing of ASD diagnoses and receipt of therapies were measured using data from the 2011-2012 National Survey of Children's Health. Parametric accelerated failure time models estimated the relationship between family ACEs and both timing of ASD diagnosis and receipt of therapies among US children (age 2-17 years; N = 1624). Compared to children without family ACEs, the adjusted effects of 1-2 and ≥ 3 ACEs resulted in prolonged time of diagnoses with time ratios of 1...
September 1, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28861732/autism-spectrum-disorders-and-low-mental-age-diagnostic-stability-and-developmental-outcomes-in-early-childhood
#11
Alexander J Hinnebusch, Lauren E Miller, Deborah A Fein
Some children with autism spectrum disorders (ASDs) exhibit low mental age (Low-MA; i.e., cognitive functioning below 12 months). We examined diagnosis, symptom severity, and development in children with ASD-low MA (n = 25), autistic disorder (n = 111), and PDD-NOS (n = 82) at ages two and four. We predicted that some ASD-low MA children would demonstrate just intellectual impairment and not autism symptoms on follow-up, with social deficits at age two attributable to global delays. Instead, most ASD-low MA children (96%) had an ASD at follow-up, compared to children initially diagnosed with autistic disorder (86...
August 31, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28852932/bioenergetic-variation-is-related-to-autism-symptomatology
#12
Leanna Delhey, Ekim Nur Kilinc, Li Yin, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen Kahler, Shirish Damle, Agustin Legido, Michael J Goldenthal, Richard E Frye
Autism spectrum disorder (ASD) has been associated with mitochondrial dysfunction but few studies have examined the relationship between mitochondrial function and ASD symptoms. We measured Complex I and IV and citrate synthase activities in 76 children with ASD who were not receiving vitamin supplementation or medication. We also measured language using the Preschool Language Scales or Clinical Evaluation of Language Fundamentals, adaptive behavior using the Vineland Adaptive Behavioral Scale, social function using the Social Responsiveness Scale and behavior using Aberrant Behavior Checklist, Childhood Behavior Checklist and the Ohio Autism Clinical Impression Scale...
August 29, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28852285/knowledge-and-perception-regarding-autism-among-primary-school-teachers-a-cross-sectional-survey-from-pakistan-south-asia
#13
Adil Ayub, Buria Naeem, Wajahat Nazir Ahmed, Suraksha Srichand, Komal Aziz, Brooj Abro, Sehrish Najam, Duraiz Murtaza, Ali Ahmed Janjua, Sara Ali, Imtiaz Jehan
BACKGROUND: Early detection and intervention seem to improve development in autistic children, and teachers form an important part of their early social environment. OBJECTIVES: The objective of this study was to assess baseline knowledge and misconceptions regarding autism among school teachers and evaluate factors influencing their knowledge. MATERIALS AND METHODS: This is a cross-sectional survey enrolling primary school teachers using a self-administered questionnaire...
July 2017: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#14
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28844800/paternal-use-of-azathioprine-6-mercaptopurine-or-methotrexate-within-3-months-before-conception-and-long-term-health-outcomes-in-the-offspring-a-nationwide-cohort-study
#15
S Friedman, M D Larsen, B Magnussen, L R Jølving, P de Silva, B M Nørgård
PURPOSE: We examined the effect of preconception paternal use of azathioprine (AZA)/6-mercaptopurine (6-MP) or methotrexate (MTX) and the risk of adverse long-term outcomes in the offspring. METHODS: This study included all children born in Denmark from 1 January 1997 through 2013. Exposed cohort: children fathered by men who used AZA/6-MP (N=735) or MTX (N=209) within three months before conception; unexposed cohort: children fathered by men who did not use AZA/6-MP/MTX (N=1,056,524)...
August 24, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28831647/novel-biomarkers-of-metabolic-dysfunction-is-autism-spectrum-disorder-potential-for-biological-diagnostic-markers
#16
Asma M Khemakhem, Richard E Frye, Afaf El-Ansary, Laila Al-Ayadhi, Abir Ben Bacha
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is behaviorally defined by social and communication impairments and restricted interests and repetitive behaviors. There is currently no biomarkers that can help in the diagnosis. Several studies suggest that mitochondrial dysfunction is commonly involved in ASD pathophysiology, but standard mitochondrial biomarkers are thought to be very variable. In the present study we examine a wide variety of plasma biomarkers of mitochondrial metabolism and the related abnormalities of oxidative stress and apoptosis in 41 ASD patients assessed for ASD severity using the Childhood Autism Rating Scales and 41 non-related age and sex matched healthy controls...
August 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28827761/copy-number-elevation-of-22q11-2-genes-arrests-the-developmental-maturation-of-working-memory-capacity-and-adult-hippocampal-neurogenesis
#17
S Boku, T Izumi, S Abe, T Takahashi, A Nishi, H Nomaru, Y Naka, G Kang, M Nagashima, A Hishimoto, S Enomoto, G Duran-Torres, K Tanigaki, J Zhang, K Ye, S Kato, P T Männistö, K Kobayashi, N Hiroi
Working memory capacity, a critical component of executive function, expands developmentally from childhood through adulthood. Anomalies in this developmental process are seen in individuals with autism spectrum disorder (ASD), schizophrenia and intellectual disabilities (ID), implicating this atypical process in the trajectory of developmental neuropsychiatric disorders. However, the cellular and neuronal substrates underlying this process are not understood. Duplication and triplication of copy number variants of 22q11...
August 22, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#18
MULTICENTER STUDY
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28812273/a-precision-medicine-approach-to-oxytocin%C3%A2-trials
#19
Elissar Andari, Rene Hurlemann, Larry J Young
In this chapter, we introduce a new area of social pharmacology that encompasses the study of the role of neuromodulators in modulating a wide range of social behaviors and brain function, with the interplay of genetic and epigenetic factors. There are increasing evidences for the role of the neuropeptide oxytocin in modulating a wide range of social behaviors, in reducing anxiety, and in impacting the social brain network. Oxytocin also promotes social functions in patients with neuropsychiatric disorders, such as autism and reduces anxiety and fear in anxiety disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28811173/prenatal-exposure-to-pyrethroid-pesticides-and-childhood-behavior-and-executive-functioning
#20
Melissa A Furlong, Dana Boyd Barr, Mary S Wolff, Stephanie M Engel
Several previous studies of pyrethroid biomarkers and behavior have reported associations between concurrent pyrethroid levels and adverse behavioral problems in children. One geospatial study reported associations between prenatal exposure to pyrethroids and autism. However, the association between prenatal pyrethroid biomarkers and childhood behavior is unknown. The Mount Sinai Children's Environmental Health Center is a prospective birth cohort with urinary pyrethroid biomarkers during pregnancy and behavioral measurements at 4, 6, and 7-9 years of age...
August 12, 2017: Neurotoxicology
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