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ASD genetic testing

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https://www.readbyqxmd.com/read/27920663/asd-and-genetic-associations-with-receptors-for-oxytocin-and-vasopressin-avpr1a-avpr1b-and-oxtr
#1
Sunday M Francis, Soo-Jeong Kim, Emily Kistner-Griffin, Stephen Guter, Edwin H Cook, Suma Jacob
Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27891068/can-mouse-imaging-studies-bring-order-to-autism-connectivity-chaos
#2
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/27855195/paternal-aging-affects-behavior-in-pax6-mutant-mice-a-gene-environment-interaction-in-understanding-neurodevelopmental-disorders
#3
Kaichi Yoshizaki, Tamio Furuse, Ryuichi Kimura, Valter Tucci, Hideki Kaneda, Shigeharu Wakana, Noriko Osumi
Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD...
2016: PloS One
https://www.readbyqxmd.com/read/27846046/clinical-and-molecular-characterization-of-three-genomic-rearrangements-at-chromosome-22q13-3-associated-with-autism-spectrum-disorder
#4
Chia-Hsiang Chen, Hsin-I Chen, Hsiao-Mei Liao, Yann-Jang Chen, Jye-Siung Fang, Kuei-Fang Lee, Susan Shur-Fen Gau
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD...
November 11, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27825394/shared-atypical-brain-anatomy-and-intrinsic-functional-architecture-in-male-youth-with-autism-spectrum-disorder-and-their-unaffected-brothers
#5
H-Y Lin, W-Y I Tseng, M-C Lai, Y-T Chang, S S-F Gau
BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for definite genetic etiologies remains elusive. Delineating ASD endophenotypes can boost the statistical power to identify the genetic etiologies and pathophysiology of ASD. We aimed to test for endophenotypes of neuroanatomy and associated intrinsic functional connectivity (iFC) via contrasting male youth with ASD, their unaffected brothers and typically developing (TD) males...
November 9, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27816473/characterization-of-soluble-n-ethylmaleimide-sensitive-factor-attachment-protein-receptor-gene-stx18-variations-for-possible-roles-in-congenital-heart-diseases
#6
Xia Li, Shuai Shi, Fei-Feng Li, Rui Cheng, Ying Han, Li-Wei Diao, Qiong Zhang, Ji-Xin Zhi, Shu-Lin Liu
Congenital heart disease (CHD) is among the most prevalent and complex congenital anatomic malformations in newborns. Interactions of cardiac progenitor with a broad range of cellular regulatory factors play key roles in the formation of mammalian heart and pathogenesis of CHD. STX18 is a soluble N-ethylmaleimide-sensitive factor attachment protein receptor, which is involved in numeral cellular activities such as organelle assembly and the cell cycle. The aim of this work was to find evidence on whether STX18 variations might be associated with CHD in Chinese Han populations...
November 2, 2016: Gene
https://www.readbyqxmd.com/read/27809408/gender-differences-in-autism-spectrum-disorders-divergence-among-specific-core-symptoms
#7
Anita Beggiato, Hugo Peyre, Anna Maruani, Isabelle Scheid, Maria Rastam, Frederique Amsellem, Carina I Gillberg, Marion Leboyer, Thomas Bourgeron, Christopher Gillberg, Richard Delorme
Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated...
November 3, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27771533/high-resolution-snp-genotyping-platform-identified-recurrent-and-novel-cnvs-in-autism-multiplex-families
#8
Laila Y AlAyadhi, Jamil A Hashmi, Muhammad Iqbal, Alia M Albalawi, Mohammad I Samman, Nadra E Elamin, Shahid Bashir, Sulman Basit
Single nucleotide polymorphisms (SNPs)-based genotyping using microarray platform is now frequently used to detect copy number variants (CNVs) in the human genome. Here, we report CNVs identified using Illumina Human Omni 2.5M oligonucleotide microarrays in 11 multiplex families with autism spectrum disorder (ASD) referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH). Of the 11 families, 22 patients with ASD (all males) and their parents, were recruited for the present study...
December 17, 2016: Neuroscience
https://www.readbyqxmd.com/read/27755371/whole-exome-sequencing-identifies-a-novel-heterozygous-missense-variant-of-the-en2-gene-in-two-unrelated-patients-with-autism-spectrum-disorder
#9
Areerat Hnoonual, Thanya Sripo, Pornprot Limprasert
To identify the underlying genetic cause of autism spectrum disorder (ASD), we performed whole-exome sequencing in 10 unrelated Thai patients with ASD. We identified a novel heterozygous missense variant (c.425C>G, p.Pro142Arg) in the Engrailed 2 (EN2) gene in two patients. The G variant has never been reported in public databases and was absent in 100 Thai patients with ASD and 435 Thai controls. A case-control study showed that the G allele of c.425C>G was significantly associated with ASD (Fisher's exact test, P=0...
October 14, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27755291/clinical-utility-of-folate-pathway-genetic-polymorphisms-in-the-diagnosis-of-autism-spectrum-disorders
#10
Naushad Shaik Mohammad, P Sai Shruti, Venkat Bharathi, Chintakindi Krishna Prasad, Tajamul Hussain, Salman A Alrokayan, Usha Naik, Akella Radha Rama Devi
BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD. PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk...
October 17, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27752029/nkx2-5-molecular-screening-and-assessment-of-variant-rate-and-risk-factors-of-secundum-atrial-septal-defect-in-a-moroccan-population
#11
Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Khadija Belhassan, Imane Samri, Ayoub Tahri Joutei, Karim Ouldim, Samir Atmani
OBJECTIVE: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. METHODS: Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reactionamplified coding regions...
October 12, 2016: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/27739237/hyperactivity-and-male-specific-sleep-deficits-in-the-16p11-2-deletion-mouse-model-of-autism
#12
Christopher C Angelakos, Adam J Watson, W Timothy O'Brien, Kyle S Krainock, Thomas Nickl-Jockschat, Ted Abel
Sleep disturbances and hyperactivity are prevalent in several neurodevelopmental disorders, including autism spectrum disorders (ASDs) and attention deficit-hyperactivity disorder (ADHD). Evidence from genome-wide association studies indicates that chromosomal copy number variations (CNVs) are associated with increased prevalence of these neurodevelopmental disorders. In particular, CNVs in chromosomal region 16p11.2 profoundly increase the risk for ASD and ADHD, disorders that are more common in males than females...
October 14, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27713683/specific-medical-conditions-are-associated-with-unique-behavioral-profiles-in-autism-spectrum-disorders
#13
Ditza A Zachor, Esther Ben-Itzchak
Autism spectrum disorder (ASD) is a heterogeneous group of disorders which occurs with numerous medical conditions. In previous research, subtyping in ASD has been based mostly on cognitive ability and ASD symptom severity. The aim of the current study was to investigate whether specific medical conditions in ASD are associated with unique behavioral profiles. The medical conditions included in the study were macrocephaly, microcephaly, developmental regression, food selectivity, and sleep problems. The behavioral profile was composed of cognitive ability, adaptive skills, and autism severity, and was examined in each of the aforementioned medical conditions...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27708559/does-prenatal-valproate-interact-with-a-genetic-reduction-in-the-serotonin-transporter-a-rat-study-on-anxiety-and-cognition
#14
Bart A Ellenbroek, Caren August, Jiun Youn
There is ample evidence that prenatal exposure to valproate (or valproic acid, VPA) enhances the risk of developing Autism Spectrum Disorders (ASD). In line with this, a single injection of VPA induces a multitude of ASD-like symptoms in animals, such as rats and mice. However, there is equally strong evidence that genetic factors contribute significantly to the risk of ASD and indeed, like most other psychiatric disorders, ASD is now generally thought to results from an interaction between genetic and environmental factors...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27695335/expanded-dmpk-repeats-in-dizygotic-twins-referred-for-diagnosis-of-autism-versus-absence-of-expanded-dmpk-repeats-at-screening-of-330-children-with-autism
#15
Zuzana Musova, Miroslava Hancarova, Marketa Havlovicova, Radka Pourova, Michal Hrdlicka, Josef Kraus, Marie Trkova, David Stejskal, Zdenek Sedlacek
Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27650969/chromosomal-microarray-testing-in-adults-with-intellectual-disability-presenting-with-comorbid-psychiatric-disorders
#16
Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos, Nagarajan Perumal, Stephen Read, Rohit Shankar, Saif Sharif, Suchithra Thirulokachandran, Johan H Thygesen, Christine Patch, Caroline Ogilvie, Frances Flinter, Andrew McQuillin, Nick Bass
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England...
September 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27607483/can-clinical-characteristics-be-criteria-to-perform-chromosomal-microarray-analysis-in-children-and-adolescents-with-autism-spectrum-disorders
#17
Melissa Sys, Ann VAN DEN Bogaert, Bram Roosens, Annik Lampo, Anna Jansen, Sara Wouters, Kathelijn Keymolen
BACKGROUND: Chromosomal microarray analysis (CMA) has become increasingly important in the assessment of patients with autism spectrum disorders (ASD), but is sometimes restricted to patients with specific additional characteristics or comorbidities. We aim to evaluate whether certain clinical characteristics could be criteria to perform CMA and also to investigate the diagnostic value of CMA compared to other genetic analyses in our patient population. METHODS: The files of 311 children diagnosed with ASD were retrospectively analysed...
September 8, 2016: Minerva Pediatrica
https://www.readbyqxmd.com/read/27555794/examining-genotypic-variation-in-autism-spectrum-disorder-and-its-relationship-to-parental-age-and-phenotype
#18
David A Geier, Janet K Kern, Lisa K Sykes, Mark R Geier
BACKGROUND: Previous studies on genetic testing of chromosomal abnormalities in individuals diagnosed with autism spectrum disorder (ASD) found that ~80% have negative genetic test results (NGTRs) and ~20% have positive genetic test results (PGTRs), of which ~7% were probable de novo mutations (PDNMs). Research suggests that parental age is a risk factor for an ASD diagnosis. This study examined genotypic variation in ASD and its relationship to parental age and phenotype. METHODS: Phenotype was derived from detailed clinical information, and genotype was derived from high-resolution blood chromosome and blood whole-genome copy number variant genetic testing on a consecutive cohort (born: 1983-2009) of subjects diagnosed with ASD (N=218)...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27520082/activation-of-basolateral-amygdala-in-juvenile-c57bl-6j-mice-during-social-approach-behavior
#19
Sarah L Ferri, Arati S Kreibich, Matthew Torre, Cara T Piccoli, Holly Dow, Ashley A Pallathra, Hongzhe Li, Warren B Bilker, Ruben C Gur, Ted Abel, Edward S Brodkin
There is a strong need to better understand the neurobiology of juvenile sociability (tendency to seek social interaction), a phenotype of central relevance to autism spectrum disorders (ASD). Although numerous genetic mouse models of ASD showing reduced sociability have been reported, and certain brain regions, such as the amygdala, have been implicated in sociability, there has been little emphasis on delineating brain structures and circuits activated during social interactions in the critical juvenile period of the mouse strain that serves as the most common genetic background for these models-the highly sociable C57BL/6J (B6) strain...
October 29, 2016: Neuroscience
https://www.readbyqxmd.com/read/27468247/utilization-of-genetic-testing-among-children-with-developmental-disabilities-in-the-united-states
#20
Bridget Kiely, Sujit Vettam, Andrew Adesman
PURPOSE: Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey. METHODS: Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions...
2016: Application of Clinical Genetics
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