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Autism etiology

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https://www.readbyqxmd.com/read/28229350/-set-in-stone-or-ray-of-hope-parents-beliefs-about-cause-and-prognosis-after-genomic-testing-of-children-diagnosed-with-asd
#1
Marian Reiff, Eva Bugos, Ellen Giarelli, Barbara A Bernhardt, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28227229/ensemble-statistical-and-subspace-clustering-model-for-analysis-of-autism-spectrum-disorder-phenotypes
#2
Khalid Al-Jabery, Tayo Obafemi-Ajayi, Gayla R Olbricht, T Nicole Takahashi, Stephen Kanne, Donald Wunsch, Khalid Al-Jabery, Tayo Obafemi-Ajayi, Gayla R Olbricht, T Nicole Takahashi, Stephen Kanne, Donald Wunsch, Donald Wunsch, Tayo Obafemi-Ajayi, Khalid Al-Jabery, Stephen Kanne, Gayla R Olbricht, T Nicole Takahashi
Heterogeneity in Autism Spectrum Disorder (ASD) is complex including variability in behavioral phenotype as well as clinical, physiologic, and pathologic parameters. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now diagnoses ASD using a 2-dimensional model based social communication deficits and fixated interests and repetitive behaviors. Sorting out heterogeneity is crucial for study of etiology, diagnosis, treatment and prognosis. In this paper, we present an ensemble model for analyzing ASD phenotypes using several machine learning techniques and a k-dimensional subspace clustering algorithm...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28221900/mental-health-disorders-associated-with-foodborne-pathogens
#3
Declan J Bolton, Lucy J Robertson
Human infections with foodborne pathogenic organisms are relatively well described in terms of their overt physical symptoms, such as diarrhea, abdominal cramps, vomiting, fever, and associated sequelae. Indeed, some of these are key for diagnosis and treatment, although it should be noted that, for some foodborne pathogens, the physical symptoms might be more diffuse, particularly those associated with some of the foodborne parasites. In contrast, the impact of these pathogens on mental health is less well described, and symptoms such as depression, anxiety, and general malaise are usually ignored when foodborne infections are recorded...
November 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#4
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
February 17, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28210826/stranger-fear-and-early-risk-for-social-anxiety-in-preschoolers-with-fragile-x-syndrome-contrasted-to-autism-spectrum-disorder
#5
Jessica F Scherr, Abigail L Hogan, Deborah Hatton, Jane E Roberts
This study investigated behavioral indicators of social fear in preschool boys with fragile X syndrome (FXS) with a low degree of autism spectrum disorder (ASD) symptoms (FXS-Low; n = 29), FXS with elevated ASD symptoms (FXS-High; n = 25), idiopathic ASD (iASD; n = 11), and typical development (TD; n = 36). Gaze avoidance, escape behaviors, and facial fear during a stranger approach were coded. Boys with elevated ASD symptoms displayed more avoidant gaze, looking less at the stranger and parent than those with low ASD symptoms across etiologies...
February 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28196230/association-between-the-probability-of-autism-spectrum-disorder-and-normative-sex-related-phenotypic-diversity-in-brain-structure
#6
Christine Ecker, Derek S Andrews, Christina M Gudbrandsen, Andre F Marquand, Cedric E Ginestet, Eileen M Daly, Clodagh M Murphy, Meng-Chuan Lai, Michael V Lombardo, Amber N V Ruigrok, Edward T Bullmore, John Suckling, Steven C R Williams, Simon Baron-Cohen, Michael C Craig, Declan G M Murphy
Importance: Autism spectrum disorder (ASD) is 2 to 5 times more common in male individuals than in female individuals. While the male preponderant prevalence of ASD might partially be explained by sex differences in clinical symptoms, etiological models suggest that the biological male phenotype carries a higher intrinsic risk for ASD than the female phenotype. To our knowledge, this hypothesis has never been tested directly, and the neurobiological mechanisms that modulate ASD risk in male individuals and female individuals remain elusive...
February 8, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28192369/synaptic-unc13a-protein-variant-causes-increased-neurotransmission-and-dyskinetic-movement-disorder
#7
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, Nathaniel Calloway, Peter M van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M van Haelst, Ron van Empelen, Inge Cuppen, Heleen C van Teeseling, Annemieke M V Evelein, Jacob A Vorstman, Sven Thoms, Olaf Jahn, Karen J Duran, Glen R Monroe, Timothy A Ryan, Holger Taschenberger, Jeremy S Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J Jans, Nils Brose
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1)...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28186671/modeling-neurodevelopmental-and-psychiatric-diseases-with-human-ipscs
#8
REVIEW
Zhexing Wen
Neurodevelopmental and psychiatric disorders, including autism spectrum disorder and schizophrenia, are complex and heterogeneous disorders that affect a large portion of the world's population. While the causes are still poorly understood, currently available treatments are limited; the development of rational therapeutics based on an understanding of the etiology and pathogenesis of the disease is imperative. The breakthrough technology of deriving induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of healthy subjects or patients, offers an unprecedented opportunity to recapitulate both normal and pathological development of human tissue, thereby opening up a new avenue for disease modeling and drug development in a more genetically tractable and disease-relevant system...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28182283/chromatographic-determination-of-harmalans-in-the-urine-of-autistic-children
#9
Joanna Kałużna-Czaplińska, Jagoda Jóźwik-Pruska, Andrea Axt
This paper presents a new approach to autism- a complex and still enigmatic condition. We present the results of our preliminary research which was based on the detection of the hallucinogenic substance 6- (or 10-) methoxyharmalan in the urine samples of autistic children with the use of chromatographic methods. Additionally, we aim to describe the relationship between the level of tryptophan and harmalan, and the influence of supplementation on the level of this compound. We applied HPLC-UV/Vis, HPLC-DAD and LC-MS in order to determine McIsaac's compound in the urine samples obtained from autistic children (n = 132) and healthy individuals (n = 10)...
February 9, 2017: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/28180026/chromosomal-microarrays-understanding-genetics-of-neurodevelopmental-disorders-and-congenital-anomalies
#10
REVIEW
Jill A Rosenfeld, Ankita Patel
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that are not fully penetrant and/or cause a spectrum of phenotypes, including intellectual disability, autism, schizophrenia, and dysmorphisms. Such CNVs can pose challenges to genetic counseling. They also have helped increase knowledge of genetic risk factors for neurodevelopmental disease and raised awareness of possible shared etiologies among these variable phenotypes...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28166277/ketogenic-diet-improves-behaviors-in-a-maternal-immune-activation-model-of-autism-spectrum-disorder
#11
David N Ruskin, Michelle I Murphy, Sierra L Slade, Susan A Masino
Prenatal factors influence autism spectrum disorder (ASD) incidence in children and can increase ASD symptoms in offspring of animal models. These may include maternal immune activation (MIA) due to viral or bacterial infection during the first trimesters. Unfortunately, regardless of ASD etiology, existing drugs are poorly effective against core symptoms. For nearly a century a ketogenic diet (KD) has been used to treat seizures, and recent insights into mechanisms of ASD and a growing recognition that immune/inflammatory conditions exacerbate ASD risk has increased interest in KD as a treatment for ASD...
2017: PloS One
https://www.readbyqxmd.com/read/28163867/umbilical-cord-blood-androgen-levels-and-asd-related-phenotypes-at-12-and-36%C3%A2-months-in-an-enriched-risk-cohort-study
#12
Bo Y Park, Brian K Lee, Igor Burstyn, Loni P Tabb, Jeff A Keelan, Andrew J O Whitehouse, Lisa A Croen, Margaret D Fallin, Irva Hertz-Picciotto, Owen Montgomery, Craig J Newschaffer
BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28153685/reframing-autism-as-a-behavioral-syndrome-and-not-a-specific-mental-disorder-perspectives-from-a-literature-review
#13
REVIEW
S Tordjman, D Cohen, N Coulon, G M Anderson, M Botbol, P L Roubertoux
Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered...
January 30, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28140403/medical-history-of-discordant-twins-and-environmental-etiologies-of-autism
#14
C Willfors, T Carlsson, B-M Anderlid, A Nordgren, E Kostrzewa, S Berggren, A Ronald, R Kuja-Halkola, K Tammimies, S Bölte
The environmental contributions to autism spectrum disorder (ASD) and their informative content for diagnosing the condition are still largely unknown. The objective of this study was to investigate associations between early medical events and ASD, as well as autistic traits, in twins, to test the hypothesis of a cumulative environmental effect on ASD risk. A total of 80 monozygotic (MZ) twin pairs (including a rare sample of 13 twin pairs discordant for clinical ASD) and 46 dizygotic (DZ) twin pairs with varying autistic traits, were examined for intra-pair differences in early medical events (for example, obstetric and neonatal factors, first year infections)...
January 31, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28140401/advanced-paternal-age-effects-in-neurodevelopmental-disorders-review-of-potential-underlying-mechanisms
#15
REVIEW
M Janecka, J Mill, M A Basson, A Goriely, H Spiers, A Reichenberg, L Schalkwyk, C Fernandes
Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events...
January 31, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28118382/integrative-variation-analysis-reveals-that-a-complex-genotype-may-specify-phenotype-in-siblings-with-syndromic-autism-spectrum-disorder
#16
Viviane Neri de Souza Reis, João Paulo Kitajima, Ana Carolina Tahira, Ana Cecília Feio-Dos-Santos, Rodrigo Ambrósio Fock, Bianca Cristina Garcia Lisboa, Sérgio Nery Simões, Ana C V Krepischi, Carla Rosenberg, Naila Cristina Lourenço, Maria Rita Passos-Bueno, Helena Brentani
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, together with systems genetics and network analyses, are being used as tools for the study of complex disorders of unknown etiology, especially those characterized by significant genetic and phenotypic heterogeneity. Therefore, to characterize the complex genotype-phenotype relationship, we performed aCGH and sequenced the exomes of two affected siblings with ASD symptoms, dysmorphic features, and intellectual disability, searching for de novo CNVs, as well as for de novo and rare inherited point variations-single nucleotide variants (SNVs) or small insertions and deletions (indels)-with probable functional impacts...
2017: PloS One
https://www.readbyqxmd.com/read/28115688/sex-specific-gene-environment-interactions-underlying-asd-like-behaviors
#17
Sara M Schaafsma, Khatuna Gagnidze, Anny Reyes, Natalie Norstedt, Karl Månsson, Kerel Francis, Donald W Pfaff
The male bias in the incidence of autism spectrum disorders (ASDs) is one of the most notable characteristics of this group of neurodevelopmental disorders. The etiology of this sex bias is far from known, but pivotal for understanding the etiology of ASDs in general. Here we investigate whether a "three-hit" (genetic load × environmental factor × sex) theory of autism may help explain the male predominance. We found that LPS-induced maternal immune activation caused male-specific deficits in certain social responses in the contactin-associated protein-like 2 (Cntnap2) mouse model for ASD...
February 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28112487/distinct-profiles-of-social-skill-in-adults-with-autism-spectrum-disorder-and-schizophrenia
#18
Kerrianne E Morrison, Amy E Pinkham, David L Penn, Skylar Kelsven, Kelsey Ludwig, Noah J Sasson
Overlapping social impairments in Autism Spectrum Disorder (ASD) and Schizophrenia (SCZ) contributed to decades of diagnostic confusion that continues to this day in some clinical settings. The current study provides the first direct and detailed comparison of social behavior in the two disorders by identifying profiles of social skill in adults with ASD (n = 54), SCZ (n = 54), and typically developing (TD) controls (n = 56) during a real-world social interaction. ASD and SCZ groups exhibited poorer social skill, both overall and on most discrete abilities, relative to the TD group...
January 23, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28102992/environmental-factors-associated-with-autism-spectrum-disorder-a-scoping-review-for-the-years-2003-2013
#19
M Ng, J G de Montigny, M Ofner, M T Do
INTRODUCTION: The number of children diagnosed with autism spectrum disorder (ASD) has been rapidly rising in the past decade. The etiology of this disorder, however, is largely unknown, although the environmental relative to the genetic contribution is substantial. We conducted a scoping review to comprehensively assess the current state of knowledge of the environmental factors present from preconception to early life associated with ASD, and to identify research gaps. METHODS: We searched electronic databases MEDLINE, PsycINFO and ERIC for articles on potential risk factors or protective factors from the physical and social environments associated with ASD and its subclassifications published between 1 January, 2003, and 12 July, 2013...
January 2017: Health Promotion and Chronic Disease Prevention in Canada
https://www.readbyqxmd.com/read/28102566/annual-research-review-understudied-populations-within-the-autism-spectrum-current-trends-and-future-directions-in-neuroimaging-research
#20
REVIEW
Allison Jack, Kevin A Pelphrey
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes...
January 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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