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ASD genetic testing

Brooke L Slawinski, Nicole Talge, Brooke Ingersoll, Arianna Smith, Alicynne Glazier, Jean Kerver, Nigel Paneth, Karen Racicot
PROBLEM: Autism spectrum disorder (ASD) is one of the most commonly diagnosed neurodevelopmental disorders in the United States. While ASD can be significantly influenced by genetics, prenatal exposure to maternal infections has also been implicated in conferring risk. Despite this, the effects of several important maternal pathogens, such as cytomegalovirus (CMV) and herpes simplex virus 2 (HSV2), remain unknown. METHOD OF STUDY: We tested whether maternal CMV and/or HSV2 sero-positivity was associated with ASD symptoms in children...
March 9, 2018: American Journal of Reproductive Immunology: AJRI
A Özge Sungur, Lea Stemmler, Markus Wöhr, Marco B Rust
Autism spectrum disorder (ASD), schizophrenia (SCZ) and intellectual disability (ID) show a remarkable overlap in symptoms, including impairments in cognition, social behavior and communication. Human genetic studies revealed an enrichment of mutations in actin-related genes for these disorders, and some of the strongest candidate genes control actin dynamics. These findings led to the hypotheses: (i) that ASD, SCZ and ID share common disease mechanisms; and (ii) that, at least in a subgroup of affected individuals, defects in the actin cytoskeleton cause or contribute to their pathologies...
2018: Frontiers in Behavioral Neuroscience
Federica Filice, Emanuel Lauber, Karl Jakob Vörckel, Markus Wöhr, Beat Schwaller
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings suggest that one putative convergent pathway for some forms of ASD might be the downregulation of the calcium-binding protein parvalbumin (PV)...
2018: Molecular Autism
Tayfun Kara, İsmail Akaltun, Bedia Cakmakoglu, İlyas Kaya, Salih Zoroğlu
Objective: Autism spectrum disorders (ASD) have a complex pathophysiology including genetic, inflammatory and neurodevelopmental components. We aim to investigate the relationship between ASD and gene polymorphisms of stromal cell-derived factor-1 (SDF-1) and its receptor CXC chemokine receptor-4 (CXCR4), which may affect inflammatory and neurodevelopmental processes. Methods: 101 children diagnosed with ASD aged 2-18 and their biological parents were included in the study...
February 22, 2018: Psychiatry Investigation
Alyson E Hanish, Marlene Z Cohen, Lois J Starr
PURPOSE: Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk...
February 23, 2018: Journal for Specialists in Pediatric Nursing: JSPN
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
Bridget A Fernandez, Stephen W Scherer
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings...
December 2017: Dialogues in Clinical Neuroscience
M P Coba, M J Ramaker, E V Ho, S L Thompson, N H Komiyama, S G N Grant, J A Knowles, S C Dulawa
The scaffold protein DLGAP1 is localized at the post-synaptic density (PSD) of glutamatergic neurons and is a component of supramolecular protein complexes organized by PSD95. Gain-of-function variants of DLGAP1 have been associated with obsessive-compulsive disorder (OCD), while haploinsufficient variants have been linked to autism spectrum disorder (ASD) and schizophrenia in human genetic studies. We tested male and female Dlgap1 wild type (WT), heterozygous (HT), and knockout (KO) mice in a battery of behavioral tests: open field, dig, splash, prepulse inhibition, forced swim, nest building, social approach, and sucrose preference...
February 2, 2018: Scientific Reports
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
January 29, 2018: Autism Research: Official Journal of the International Society for Autism Research
Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa
In the nervous system, Kirrel3 is involved in neuronal migration, axonal fasciculation, and synapse formation. Recently, genetic links have been reported between mutations in the KIRREL3 gene and increased risk of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability. To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3-/-) mice and investigated the detailed behavioural phenotypes...
January 23, 2018: Scientific Reports
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
Brett Trost, Susan Walker, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Wilson W L Sung, Sergio L Pereira, Joe Whitney, Ada J S Chan, Giovanna Pellecchia, Miriam S Reuter, Si Lok, Ryan K C Yuen, Christian R Marshall, Daniele Merico, Stephen W Scherer
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test has been accurate detection of copy-number variations (CNVs). Here, we used several datasets to empirically develop a detailed workflow for identifying germline CNVs >1 kb from short-read WGS data using read depth-based algorithms. Our workflow is comprehensive in that it addresses all stages of the CNV-detection process, including DNA library preparation, sequencing, quality control, reference mapping, and computational CNV identification...
January 4, 2018: American Journal of Human Genetics
Maria Pia Riccio, Chiara Franco, Rossella Negri, Roberta Ida Ferrentino, Roberta Maresca, Elisa D'alterio, Luigi Greco, Carmela Bravaccio
Several studies suggest that atypical eating behaviors, in particular food selectivity, are more frequent in children with autism spectrum disorder (ASD). A link between bitter taste perception, namely PROP/PTC sensitivity and food preferences is known in healthy children. The aim of this study is to investigate whether genetic variants of the TAS2R38 taste receptor responsible for different bitter sensitivity could affect foods preferences and consequently food refusal in ASD children. We recruited 43 children with ASD and 41 with normotypic development (TD) with or without food selectivity, aged between 2 and 11 years...
December 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
Adam B Steinmetz, Sarah A Stern, Amy S Kohtz, Giannina Descalzi, Cristina M Alberini
Autism spectrum disorder (ASD) is a developmental disability characterized by impairments in social interaction and repetitive behavior, and is also associated with cognitive deficits. There is no current treatment that can ameliorate most of the ASD symptomatology; thus, identifying novel therapies is urgently needed. We used male BTBR T + Itpr3tf /J (BTBR) mice, a model that reproduces most of the core behavioral phenotypes of ASD, to test the effects of systemic administration of insulin-like growth factor II (IGF-II), a polypeptide that crosses the blood-brain barrier and acts as a cognitive enhancer...
January 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Soon Ae Kim, Boong-Nyun Kim, Jae-Won Kim, Min-Sup Shin, Tae-Won Park, Jung-Woo Son, Un-Sun Chung, Mira Park
In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene ( SEMA5A ) for 250 Korean trios including children with ASDs. Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p<0.001, corrected p=0.035). This indicates that genetic variations in the 5' region of SEMA5A play a role in the genetic predisposition to sociality traits in Korean ASDs...
November 2017: Psychiatry Investigation
Andreas G Chiocchetti, Afsheen Yousaf, Hannah S Bour, Denise Haslinger, Regina Waltes, Eftichia Duketis, Tomas Jarczok, Michael Sachse, Monica Biscaldi, Franziska Degenhardt, Stefan Herms, Sven Cichon, Jörg Ackermann, Ina Koch, Sabine M Klauck, Christine M Freitag
The genetic architecture underlying Autism spectrum disorder (ASD) has been suggested to differ between individuals with lower (IQ ≤ 70; LIQ) and higher intellectual abilities (IQ > 70; HIQ). Among the identified pathomechanisms, the glutamatergic signalling pathway is of specific interest in ASD. We investigated 187 common functional variants of this neurotransmitter system for association with ASD and with symptom severity in two independent samples, a German (German-ALL: N = 583 families) and the Autism Genome Project cohort (AGP-ALL: N = 2001 families), split into HIQ, and LIQ subgroups...
November 16, 2017: Journal of Neural Transmission
Daan van Rooij, Evdokia Anagnostou, Celso Arango, Guillaume Auzias, Marlene Behrmann, Geraldo F Busatto, Sara Calderoni, Eileen Daly, Christine Deruelle, Adriana Di Martino, Ilan Dinstein, Fabio Luis Souza Duran, Sarah Durston, Christine Ecker, Damien Fair, Jennifer Fedor, Jackie Fitzgerald, Christine M Freitag, Louise Gallagher, Ilaria Gori, Shlomi Haar, Liesbeth Hoekstra, Neda Jahanshad, Maria Jalbrzikowski, Joost Janssen, Jason Lerch, Beatriz Luna, Mauricio Moller Martinho, Jane McGrath, Filippo Muratori, Clodagh M Murphy, Declan G M Murphy, Kirsten O'Hearn, Bob Oranje, Mara Parellada, Alessandra Retico, Pedro Rossa, Katya Rubia, Devon Shook, Margot Taylor, Paul M Thompson, Michela Tosetti, Gregory L Wallace, Fengfeng Zhou, Jan K Buitelaar
OBJECTIVE: Neuroimaging studies show structural differences in both cortical and subcortical brain regions in children and adults with autism spectrum disorder (ASD) compared with healthy subjects. Findings are inconsistent, however, and it is unclear how differences develop across the lifespan. The authors investigated brain morphometry differences between individuals with ASD and healthy subjects, cross-sectionally across the lifespan, in a large multinational sample from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) ASD working group...
November 17, 2017: American Journal of Psychiatry
Sun Kyung Hoon, Seung-Woo Kang, Sang-Hyun Kwak, Joungmin Kim
Edwards' syndrome also known as trisomy 18 is a congenital disorder associated with cardiovascular issues including ventricular septal defect (VSD), atrial septal defect (ASD) and patent duct arteriosus (PDA). An emergency colostomy was performed on a neonate born with an imperforate anus. Pre-operative transthoracic echocardiography showed presence of VSD, a patent foramen ovale (PFO) or ASD. Even though the baby had a good general condition and optimal peripheral oxygen saturation (SpO2), during positive pressure ventilation, she suffered severe hypoxia (50% SpO2)...
January 1, 2017: Journal of International Medical Research
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
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