scholarly journals Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort

2019 ◽  
Vol 215 (5) ◽  
pp. 647-653 ◽  
Author(s):  
Jack F. G. Underwood ◽  
Kimberley M. Kendall ◽  
Jennifer Berrett ◽  
Catrin Lewis ◽  
Richard Anney ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social History ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report ◽  
Risk Scores ◽  
Rare Cnvs ◽  
Patient Counselling ◽  
Genetic Characteristics ◽  
Common Genetic Variants

BackgroundThe past decade has seen the development of services for adults presenting with symptoms of autism spectrum disorder (ASD) in the UK. Compared with children, little is known about the phenotypic and genetic characteristics of these patients.AimsThis e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically presenting sample of adults diagnosed with ASD by specialist services.MethodIndividuals diagnosed with ASD as adults were recruited by the National Centre for Mental Health and completed self-report questionnaires, interviews and provided DNA; 105 eligible individuals were matched to 76 healthy controls. We investigated demographics, social history and comorbid psychiatric and physical disorders. Samples were genotyped, copy number variants (CNVs) were called and polygenic risk scores were calculated.ResultsOf individuals with ASD, 89.5% had at least one comorbid psychiatric diagnosis, with depression (62.9%) and anxiety (55.2%) being the most common. The ASD group experienced more neurological comorbidities than controls, particularly migraine headache. They were less likely to have married or be in work, and had more alcohol-related problems. There was a significantly higher load of autism common genetic variants in the adult ASD group compared with controls, but there was no difference in the rate of rare CNVs.ConclusionsThis study provides important information about psychiatric comorbidity in adult ASD, which may inform clinical practice and patient counselling. It also suggests that the polygenic load of common ASD-associated variants may be important in conferring risk within the non-intellectually disabled population of adults with ASD.Declaration of interestNone.

scholarly journals ASD Diagnosis in Adults: Phenotype and Genotype Findings from a Clinically-derived Cohort

2018 ◽  
Author(s):  
Underwood Jack F G ◽  
Kendall Kimberley M ◽  
Berrett Jennifer ◽  
Anney Richard ◽  
Van den Bree Marianne B.M. ◽  
...  
Keyword(s):  
Social History ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Self Report ◽  
Risk Scores ◽  
Healthy Controls ◽  
Rare Cnvs ◽  
Patient Counselling ◽  
Genetic Characteristics ◽  
Common Genetic Variants

AbstractBackgroundThe last decade has seen the development of services for adults presenting with symptoms of autism spectrum disorder (ASD) in the UK. Compared to children, little is known about the phenotypic and genetic characteristics of these patients.AimsThis e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically-presenting sample of adults diagnosed with ASD by specialist services.MethodsIndividuals diagnosed with ASD as adults were recruited by the National Centre for Mental Health and completed self-report questionnaires, interviews and provided DNA. 105 eligible individuals were matched to 76 healthy controls. We investigated the demographics, social history, comorbid psychiatric and physical disorders. Samples were genotyped, copy number variants (CNVs) were called and polygenic risk scores calculated.Results89.5% of individuals with ASD had at least one comorbid psychiatric diagnosis with comorbid depression (62.9%) and anxiety (55.2%) the most common. The ASD group experienced more neurological comorbidities than healthy controls, particularly migraine headache. They were less likely to have married or be in work and had more alcohol-related problems. There was a significantly higher load of autism common genetic variants in the adult ASD group compared to controls, but there was no difference in the rate of rare CNVs.ConclusionsThis study provides important information about psychiatric comorbidity in adult ASD which may be used to inform clinical practice and patient counselling. It also suggests that the polygenic load of common ASD-associated variants may be important in conferring risk within non-intellectually disabled population of adults with ASD.

scholarly journals Neural correlates of polygenic risk score for autism spectrum disorders in general population

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Budhachandra Khundrakpam ◽  
Uku Vainik ◽  
Jinnan Gong ◽  
Noor Al-Sharif ◽  
Neha Bhutani ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
White Matter ◽  
General Population ◽  
Cortical Thickness ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Risk Scores ◽  
Polygenic Risk ◽  
Cortical Regions ◽  
White Matter Connectivity

Abstract Autism spectrum disorder is a highly prevalent and highly heritable neurodevelopmental condition, but studies have mostly taken traditional categorical diagnosis approach (yes/no for autism spectrum disorder). In contrast, an emerging notion suggests a continuum model of autism spectrum disorder with a normal distribution of autistic tendencies in the general population, where a full diagnosis is at the severe tail of the distribution. We set out to investigate such a viewpoint by investigating the interaction of polygenic risk scores for autism spectrum disorder and Age2 on neuroimaging measures (cortical thickness and white matter connectivity) in a general population (n = 391, with age ranging from 3 to 21 years from the Pediatric Imaging, Neurocognition and Genetics study). We observed that children with higher polygenic risk for autism spectrum disorder exhibited greater cortical thickness for a large age span starting from 3 years up to ∼14 years in several cortical regions localized in bilateral precentral gyri and the left hemispheric postcentral gyrus and precuneus. In an independent case–control dataset from the Autism Brain Imaging Data Exchange (n = 560), we observed a similar pattern: children with autism spectrum disorder exhibited greater cortical thickness starting from 6 years onwards till ∼14 years in wide-spread cortical regions including (the ones identified using the general population). We also observed statistically significant regional overlap between the two maps, suggesting that some of the cortical abnormalities associated with autism spectrum disorder overlapped with brain changes associated with genetic vulnerability for autism spectrum disorder in healthy individuals. Lastly, we observed that white matter connectivity between the frontal and parietal regions showed significant association with polygenic risk for autism spectrum disorder, indicating that not only the brain structure, but the white matter connectivity might also show a predisposition for the risk of autism spectrum disorder. Our findings showed that the fronto-parietal thickness and connectivity are dimensionally related to genetic risk for autism spectrum disorder in general population and are also part of the cortical abnormalities associated with autism spectrum disorder. This highlights the necessity of considering continuum models in studying the aetiology of autism spectrum disorder using polygenic risk scores and multimodal neuroimaging.

scholarly journals Physiological and self-report responses of parents of children with autism spectrum disorder to children crying

2018 ◽  
Vol 73 ◽  
pp. 31-39 ◽  
Author(s):  
Yagmur Ozturk ◽  
Andrea Bizzego ◽  
Gianluca Esposito ◽  
Cesare Furlanello ◽  
Paola Venuti
Keyword(s):  
Autism Spectrum Disorder ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report

scholarly journals Initially intact neural responses to pain in autism are diminished during sustained pain

Autism ◽  
2017 ◽  
Vol 22 (6) ◽  
pp. 669-683 ◽  
Author(s):  
Michelle D Failla ◽  
Estephan J Moana-Filho ◽  
Greg K Essick ◽  
Grace T Baranek ◽  
Baxter P Rogers ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Imaging Study ◽  
Posterior Cingulate Cortex ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report ◽  
Neural Responses ◽  
Adults With Autism ◽  
Pain Experience ◽  
Stimulus Offset

Pain assessments typically depend on self-report of the pain experience. Yet, in individuals with autism spectrum disorders, this can be an unreliable due to communication difficulties. Importantly, observations of behavioral hypo- and hyperresponsivity to pain suggest altered pain sensitivity in autism spectrum disorder. Neuroimaging may provide insight into mechanisms underlying pain behaviors. The neural pain signature reliably responds to painful stimulation and is modulated by other outside regions, affecting the pain experience. In this first functional magnetic resonance imaging study of pain in autism spectrum disorder, we investigated neural responses to pain in 15 adults with autism spectrum disorder relative to a typical comparison group (n = 16). We explored temporal and spatial properties of the neural pain signature and its modulators during sustained heat pain. The two groups had indistinguishable pain ratings and neural pain signature responses during acute pain; yet, we observed strikingly reduced neural pain signature response in autism spectrum disorder during sustained pain and after stimulus offset. The posterior cingulate cortex, a neural pain signature modulating region, mirrored this late signal reduction in autism spectrum disorder. Intact early responses, followed by diminished late responses to sustained pain, may reflect altered pain coping or evaluation in autism spectrum disorder. Evidence of a dichotomous neural response to initial versus protracted pain may clarify the coexistence of both hypo- and hyperresponsiveness to pain in autism spectrum disorder.

Efficacy of romantic and sexual psycho-educational training for adolescent with high-functioning autism spectrum disorder: A pilot study

2017 ◽  
Vol 41 (S1) ◽  
pp. S439-S439
Author(s):  
G. Giovagnoli ◽  
G. Mossolani ◽  
E. Napoli ◽  
M. Pontillo ◽  
S. Vicari ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sexual Behaviors ◽  
Sexual Functioning ◽  
Control Sample ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report ◽  
Sexual Education ◽  
Educational Training ◽  
High Functioning

IntroductionRomantic and sexual functioning in individuals with autism spectrum disorder (ASD) are understudied. Recent findings evidenced that adolescents and adults with present romantic and sexual behaviors comparable with their neurotypical peers. However, it is worth to note that dysfunctional and inappropriate romantic and sexual behaviors are often described in this population.ObjectivesTo investigate efficacy of a psycho-educational training in a small group of adolescent with high-functioning ASD (HFA, QI > 70).MethodsSix adolescents (all males, range age 14–16 years) have been evaluated before (T0) and after (T1) a 10-session sexual and romantic psycho-educational structured group training, of 90′ each session. Clinical evaluation included parent-report questionnaires, as SBS for sexual behaviors and CBCL for behavioral problems, and a self-report questionnaire for sexual behaviors, called SESAMO. Moreover, autistic symptoms were investigated with ADOS-2 at T0.ResultsPreliminary analysis revealed a statistically significant differences between T0 and T1 in sexual education (P = 0.02) and frequency of dysfunctional sexual behaviors (P = 0.02) of SBS and in sexual expectations about the partner in SESAMO (P = 0.04). No differences were found in CBCL.ConclusionPreliminary results showed an improvement of romantic and sexual functioning in adolescent boys with HFA, as reported by either parents and adolescents, after participating to a structured psycho-educational training. More sexual education and information, less inappropriate sexual behaviors and more-appropriate expectations about potential partner were reported at the end of the training. These results should be confirmed in studies including larger ASD and control sample.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder

2019 ◽  
Author(s):  
Kunling Huang ◽  
Yuchang Wu ◽  
Junha Shin ◽  
Ye Zheng ◽  
Alireza Fotuhi Siahpirani ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
De Novo ◽  
Association Studies ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide Association Studies ◽  
Transmission Disequilibrium ◽  
Fold Enrichment ◽  
Common Genetic Variants ◽  
Regulated Gene Expression

AbstractRecent advances in consortium-scale genome-wide association studies (GWAS) have highlighted the involvement of common genetic variants in autism spectrum disorder (ASD), but our understanding of their etiologic roles, especially the interplay with rare variants, is incomplete. In this work, we introduce an analytical framework to quantify the transmission disequilibrium of genetically regulated gene expression from parents to offspring. We applied this framework to conduct a transcriptome-wide association study (TWAS) on 7,805 ASD proband-parent trios, and replicated our findings using 35,740 independent samples. We identified 31 associations at the transcriptome-wide significance level. In particular, we identified POU3F2 (p=2.1e-7), a transcription factor (TF) mainly expressed in developmental brain. TF targets regulated by POU3F2 showed a 2.1-fold enrichment for known ASD genes (p=4.6e-5) and a 2.7-fold enrichment for loss-of-function de novo mutations in ASD probands (p=7.1e-5). These results provide a clear example of the connection between ASD genes affected by very rare mutations and an unlinked key regulator affected by common genetic variations.

scholarly journals The Effect of Aerobic Exercise on Depression and Academic Performance of University Students with Autism Spectrum Disorder

2021 ◽  
Vol 21 (43) ◽  
pp. 156-164
Author(s):  
Naomi Clark ◽  
Susan Ross ◽  
Julie Reneau ◽  
Julia Matzenbacher dos Santos
Keyword(s):  
Autism Spectrum Disorder ◽  
Academic Performance ◽  
University Students ◽  
Student Performance ◽  
Exercise Program ◽  
Depressive Mood ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Report ◽  
Exercise Session

Depression is the most common Autism Spectrum Disorder (ASD) co-morbidities, and have been shown to relate to significantly poorer life functioning. ASD can also result in social isolation, debilitating moods, and stereotypical behaviors, which can negative effect academic performance. Young adults with ASD are less likely to enroll in college than are people with other types of disabilities. The aim of this study is to examine the effect of an exercise program on depression and academic performance within university students with ASD. University students with ASD participated in a circuit training exercise protocol for three weeks. Depressive mood states were measured pre-and-post exercise session by a self-report questionnaire, whereas, academic performance was evaluated pre-and-post study by the professor. Participants mood improved after a bout of exercise on the first training day, however, it was not observed in the following weeks. There were no changes in academic performance. Exercise might be effective on academic performance when the protocol is performed at a longer rate. However, a bout of exercise prior to class could ameliorate ASD university student performance during class by the improvement of depression.

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