Autism Spectrum Disorder Symptoms among Children Enrolled in the Study to Explore Early Development (SEED)

Science.gov (United States)

Wiggins, Lisa D.; Levy, Susan E.; Daniels, Julie; Schieve, Laura; Croen, Lisa A.; DiGuiseppi, Carolyn; Blaskey, Lisa; Giarelli, Ellen; Lee, Li-Ching; Pinto-Martin, Jennifer; Reynolds, Ann; Rice, Catherine; Rosenberg, Cordelia Robinson; Thompson, Patrick; Yeargin-Allsopp, Marshalyn; Young, Lisa; Schendel, Diana

2015-01-01

This study examined the phenotypic profiles of children aged 30-68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive,…

The Autism-Spectrum Quotient--Italian version: a cross-cultural confirmation of the broader autism phenotype.

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Ruta, Liliana; Mazzone, Domenico; Mazzone, Luigi; Wheelwright, Sally; Baron-Cohen, Simon

2012-04-01

The Autism Spectrum Quotient (AQ) has been used to define the 'broader' (BAP), 'medium' (MAP) and 'narrow' autism phenotypes (NAP). We used a new Italian version of the AQ to test if difference on AQ scores and the distribution of BAP, MAP and NAP in autism parents (n = 245) versus control parents (n = 300) were replicated in a Sicilian sample. Parents of children with autism spectrum conditions scored higher than the control parents on total AQ, social skills and communication subscales, and exhibited higher rates of BAP, MAP and NAP. We conclude that the Italian AQ is a cross-culturally reliable measure of these different phenotypes, and can be used to identify a phenotypic gradient of severity of autistic traits in families. To understand the molecular basis of these phenotypes will require its use in genetic association studies.

Sex Differences and Within-Family Associations in the Broad Autism Phenotype

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Klusek, Jessica; Losh, Molly; Martin, Gary E.

2014-01-01

While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype. This study examined this question and investigated patterns of co-occurrence of broad autism phenotype traits within families of individuals with…

Autism beyond diagnostic categories: characterization of autistic phenotypes in schizophrenia.

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Kästner, Anne; Begemann, Martin; Michel, Tanja Maria; Everts, Sarah; Stepniak, Beata; Bach, Christiane; Poustka, Luise; Becker, Joachim; Banaschewski, Tobias; Dose, Matthias; Ehrenreich, Hannelore

2015-05-13

Behavioral phenotypical continua from health to disease suggest common underlying mechanisms with quantitative rather than qualitative differences. Until recently, autism spectrum disorders and schizophrenia were considered distinct nosologic entities. However, emerging evidence contributes to the blurring of symptomatic and genetic boundaries between these conditions. The present study aimed at quantifying behavioral phenotypes shared by autism spectrum disorders and schizophrenia to prepare the ground for biological pathway analyses. Specific items of the Positive and Negative Syndrome Scale were employed and summed up to form a dimensional autism severity score (PAUSS). The score was created in a schizophrenia sample (N = 1156) and validated in adult high-functioning autism spectrum disorder (ASD) patients (N = 165). To this end, the Autism Diagnostic Observation Schedule (ADOS), the Autism (AQ) and Empathy Quotient (EQ) self-rating questionnaires were applied back to back with the newly developed PAUSS. PAUSS differentiated between ASD, schizophrenia and a disease-control sample and substantially correlated with the Autism Diagnostic Observation Schedule. Patients with ADOS scores ≥12 obtained highest, those with scores genetic constellations modulating autistic phenotypes.

The Autism Simplex Collection : an international, expertly phenotyped autism sample for genetic and phenotypic analyses

OpenAIRE

Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J. L.; Bender, Patrick; Bernier, Raphael; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Freitag, Christine M.; Hallmayer, Joachim; Geschwind, Daniel H.; Klauck, Sabine M.; Nurnberger, John I.; Oliveira, Guiomar

2014-01-01

Background: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection ...

Depression symptoms in boys with autism spectrum disorder and comparison samples.

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Gadow, Kenneth D; Guttmann-Steinmetz, Sarit; Rieffe, Carolien; Devincent, Carla J

2012-07-01

This study compares severity of specific depression symptoms in boys with autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or chronic multiple tic disorder (CMTD) and typically developing boys (Controls). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 (CSI-4) and a demographic questionnaire. Mothers' and teachers' ratings generally indicated the most severe symptoms in boys with ASD ± ADHD. Associations of depression with ASD severity and IQ varied considerably for specific symptoms of depression, ASD functional domain, and informant. Findings provide additional support for the differential influence of neurobehavioral syndromes on co-occurring symptom severity and illustrate how more fine-grained analyses of clinical phenotypes may contribute to a better understanding of etiology and current nosology.

Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis

OpenAIRE

Frazier, Thomas W; Youngstrom, Eric A; Embacher, Rebecca; Hardan, Antonio Y; Constantino, John N; Law, Paul; Findling, Robert L; Eng, Charis

2013-01-01

Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the So...

Opioid peptides and gastrointestinal symptoms in autism spectrum disorders

Directory of Open Access Journals (Sweden)

Cristiane P. Lázaro

2016-01-01

Full Text Available Autism spectrum disorders (ASDs are characterized by deficits in the individual’s ability to socialize, communicate, and use the imagination, in addition to stereotyped behaviors. These disorders have a heterogenous phenotype, both in relation to symptoms and regarding severity. Organic problems related to the gastrointestinal tract are often associated with ASD, including dysbiosis, inflammatory bowel disease, exocrine pancreatic insufficiency, celiac disease, indigestion, malabsorption, food intolerance, and food allergies, leading to vitamin deficiencies and malnutrition. In an attempt to explain the pathophysiology involved in autism, a theory founded on opioid excess has been the focus of various investigations, since it partially explains the symptomatology of the disorder. Another hypothesis has been put forward whereby the probable triggers of ASDs would be related to the presence of bacteria in the bowel, oxidative stress, and intestinal permeability. The present update reviews these hypotheses.

Equivalence of symptom dimensions in females and males with autism.

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Frazier, Thomas W; Hardan, Antonio Y

2017-08-01

This study investigated equivalence of autism symptom domains in males and females with autism. Symptom data were obtained from 2643 children and adolescents with autism spectrum disorder (352 females, 2291 males; age range = 4-17 years) included in the Simons Simplex Collection. Items from the Social Responsiveness Scale and Autism Diagnostic Interview-Revised were mapped to nine a priori symptom dimensions. Multi-group confirmatory factor models, including measurement equivalence and item response theory analyses, examined whether males and females showed measurement or structural differences in autism symptom constructs. Results indicated mean differences in restricted interests that were not due to measurement bias. No other symptom dimension showed evidence of measurement bias and autism symptom structure was highly similar between males and females. Future studies are needed to carefully estimate any sex differences in the content, frequency, or intensity/severity of restricted interests in females and males.

Autism beyond diagnostic categories : characterization of autistic phenotypes in schizophrenia :

OpenAIRE

Kästner, A.; Begemann, M.; Michel, T.; Everts, S.; Stepniak, B.; Bach, C.; Poustka, L.; Becker, J.; Banaschewski, T.; Dose, M.; Ehrenreich, H.

2015-01-01

Abstract Background Behavioral phenotypical continua from health to disease suggest common underlying mechanisms with quantitative rather than qualitative differences. Until recently, autism spectrum disorders and schizophrenia were considered distinct nosologic entities. However, emerging evidence contributes to the blurring of symptomatic and genetic boundaries between these conditions. The present study aimed at quantifying behavioral phenotypes shared by autism spectrum disorders and schi...

The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

OpenAIRE

Gerdts, Jennifer; Bernier, Raphael

2011-01-01

The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical tw...

Evidence for a Broad Autism Phenotype

NARCIS (Netherlands)

K. de Groot (Kristel); J.W. van Strien (Jan)

2017-01-01

textabstractThe broad autism phenotype implies the existence of a continuum ranging from individuals displaying almost no autistic traits to severely impaired diagnosed individuals. Recent studies have linked this variation in autistic traits to several domains of functioning. However, studies

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.

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Merikangas, A K; Segurado, R; Heron, E A; Anney, R J L; Paterson, A D; Cook, E H; Pinto, D; Scherer, S W; Szatmari, P; Gill, M; Corvin, A P; Gallagher, L

2015-11-01

Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on the diagnosis of ASD. There is limited understanding of the impact of CNVs on the 'sub-phenotypes' of ASD. The objective of this paper is to evaluate associations between CNVs in differentially brain expressed (DBE) genes or genes previously implicated in ASD/intellectual disability (ASD/ID) and specific sub-phenotypes of ASD. The sample consisted of 1590 cases of European ancestry from the Autism Genome Project (AGP) with a diagnosis of an ASD and at least one rare CNV impacting any gene and a core set of phenotypic measures, including symptom severity, language impairments, seizures, gait disturbances, intelligence quotient (IQ) and adaptive function, as well as paternal and maternal age. Classification analyses using a non-parametric recursive partitioning method (random forests) were employed to define sets of phenotypic characteristics that best classify the CNV-defined groups. There was substantial variation in the classification accuracy of the two sets of genes. The best variables for classification were verbal IQ for the ASD/ID genes, paternal age at birth for the DBE genes and adaptive function for de novo CNVs. CNVs in the ASD/ID list were primarily associated with communication and language domains, whereas CNVs in DBE genes were related to broader manifestations of adaptive function. To our knowledge, this is the first study to examine the associations between sub-phenotypes and CNVs genome-wide in ASD. This work highlights the importance of examining the diverse sub-phenotypic manifestations of CNVs in ASD, including the specific features, comorbid conditions and clinical correlates of ASD that comprise underlying characteristics of the disorder.

Equivalence of Symptom Dimensions in Females and Males with Autism

Science.gov (United States)

Frazier, Thomas W.; Hardan, Antonio Y.

2017-01-01

This study investigated equivalence of autism symptom domains in males and females with autism. Symptom data were obtained from 2643 children and adolescents with autism spectrum disorder (352 females, 2291 males; age range = 4-17 years) included in the Simons Simplex Collection. Items from the Social Responsiveness Scale and Autism Diagnostic…

Children with Autism: Sleep Problems and Symptom Severity

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Tudor, Megan E.; Hoffman, Charles D.; Sweeney, Dwight P.

2012-01-01

Relationships between the specific sleep problems and specific behavioral problems of children with autism were evaluated. Mothers' reports of sleep habits and autism symptoms were collected for 109 children with autism. Unlike previous research in this area, only children diagnosed with autism without any commonly comorbid diagnoses (e.g.,…

Autism and ADHD: Overlapping and Discriminating Symptoms

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Mayes, Susan Dickerson; Calhoun, Susan L.; Mayes, Rebecca D.; Molitoris, Sarah

2012-01-01

Children with ADHD and autism have some similar features, complicating a differential diagnosis. The purpose of our study was to determine the degree to which core ADHD and autistic symptoms overlap in and discriminate between children 2-16 years of age with autism and ADHD. Our study demonstrated that 847 children with autism were easily…

Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder

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Suh, Joyce; Orinstein, Alyssa; Barton, Marianne; Chen, Chi-Ming; Eigsti, Inge-Marie; Ramirez-Esparza, Nairan; Fein, Deborah

2016-01-01

The study examines whether "optimal outcome" (OO) children, despite no longer meeting diagnostic criteria for Autism Spectrum Disorder (ASD), exhibit personality traits often found in those with ASD. Nine zero acquaintance raters evaluated Broader Autism Phenotype (BAP) and Big Five personality traits of 22 OO individuals, 27 high…

Impact of ADHD symptoms on autism spectrum disorder symptom severity.

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Sprenger, Linda; Bühler, Eva; Poustka, Luise; Bach, Christiane; Heinzel-Gutenbrunner, Monika; Kamp-Becker, Inge; Bachmann, Christian

2013-10-01

Despite the official exclusion criteria for autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) in the DSM-IV and ICD-10, patients with ASD often show ADHD symptoms. We aimed to examine the potential influence of ADHD symptoms on autistic psychopathology in a large sample of patients with ASD. We tested the hypothesis that patients with ASD and an additional ADHD (ASD+) would show a higher severity of autistic symptoms than those with ASD only (ASD-). We measured autistic symptoms using the autism diagnostic observation schedule (ADOS-G), the autism diagnostic interview (ADI-R), and the social responsiveness scale (SRS). To measure overall psychopathology and ADHD symptoms, we used the child behavior checklist (CBCL) and the ADHD rating scale (FBB-ADHS), respectively. Group differences between the ASD+ and the ASD- group (group division was conducted according to the results of the FBB-ADHS) were calculated using a univariate analysis of variance (ANOVA). The ASD+ group showed a greater severity of autistic symptoms than the ASD- group, measured by the SRS and the ADI-R. Especially in the social interaction subscale (ADI-R), a significantly higher symptom severity was found in the ASD+ group. No significant group differences were found regarding autistic symptoms measured by the ADOS-G. Patients with ASD and an additional ADHD expressed a stronger severity of autistic symptoms than patients with ASD only. According to our results, the possibility of a co-diagnosis of ADS and ADHD, as is being planned in the DSM-5, is in line with earlier studies, is highly reasonable, will simplify research, and have therapeutic implications. Copyright © 2013 Elsevier Ltd. All rights reserved.

Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders

OpenAIRE

Rao, Patricia A; Landa, Rebecca J

2013-01-01

Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines (Diagnostic and Statistical Manual of the American Psychiatric Association, 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity disorder is sometimes comorbid with autism spectrum disorder. In the current study, we examined rates of parent-reported clinically significant symptoms of attention ...

Subgrouping siblings of people with autism: Identifying the broader autism phenotype

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Allison, Carrie; Smith, Paula; Watson, Peter; Auyeung, Bonnie; Ring, Howard; Baron‐Cohen, Simon

2015-01-01

We investigate the broader autism phenotype (BAP) in siblings of individuals with autism spectrum conditions (ASC). Autistic traits were measured in typical controls (n = 2,000), siblings (n = 496), and volunteers with ASC (n = 2,322) using the Autism‐Spectrum Quotient (AQ), both self‐report and parent‐report versions. Using cluster analysis of AQ subscale scores, two sibling subgroups were identified for both males and females: a cluster of low‐scorers and a cluster of high‐scorers. Results show that while siblings as a group have intermediate levels of autistic traits compared to control individuals and participants with ASC, when examined on a cluster level, the low‐scoring sibling group is more similar to typical controls while the high‐scoring group is more similar to the ASC clinical group. Further investigation into the underlying genetic and epigenetic characteristics of these two subgroups will be informative in understanding autistic traits, both within the general population and in relation to those with a clinical diagnosis. Autism Res 2016, 9: 658–665. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research PMID:26332889

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

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Chaste, Pauline; Klei, Lambertus; Sanders, Stephan J; Hus, Vanessa; Murtha, Michael T; Lowe, Jennifer K; Willsey, A Jeremy; Moreno-De-Luca, Daniel; Yu, Timothy W; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E; Ledbetter, David H; Mane, Shrikant M; Martin, Donna M; Morrow, Eric M; Walsh, Christopher A; Sutcliffe, James S; Lese Martin, Christa; Beaudet, Arthur L; Lord, Catherine; State, Matthew W; Cook, Edwin H; Devlin, Bernie

2015-05-01

Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD. Genome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles. We conducted a family-based association study, as well as estimating heritability and evaluating allele scores for each phenotypic subgroup. Association analyses revealed no genome-wide significant association signal. Subphenotyping did not increase power substantially. Moreover, allele scores built from the most associated single nucleotide polymorphisms, based on the odds ratio in the full sample, predicted case status in subsets of the sample equally well and heritability estimates were very similar for all subgroups. In genome-wide association analysis of the Simons Simplex Collection sample, reducing phenotypic heterogeneity had at most a modest impact on genetic homogeneity. Our results are based on a relatively small sample, one with greater homogeneity than the entire population; if they apply more broadly, they imply that analysis of subphenotypes is not a productive path forward for discovering genetic risk variants in ASD. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Can the Five Factor Model of Personality Account for the Variability of Autism Symptom Expression? Multivariate Approaches to Behavioral Phenotyping in Adult Autism Spectrum Disorder

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Schwartzman, Benjamin C.; Wood, Jeffrey J.; Kapp, Steven K.

2016-01-01

The present study aimed to: determine the extent to which the five factor model of personality (FFM) accounts for variability in autism spectrum disorder (ASD) symptomatology in adults, examine differences in average FFM personality traits of adults with and without ASD and identify distinct behavioral phenotypes within ASD. Adults (N = 828;…

Demographic and Clinical Correlates of Autism Symptom Domains and Autism Spectrum Diagnosis

Science.gov (United States)

Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

2014-01-01

Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive…

Characteristic Symptoms and Adaptive Behaviors of Children with Autism

International Nuclear Information System (INIS)

Rauf, N. K.; Haq, A.; Aslam, N.; Anjum, U.

2014-01-01

Objective: To determine the characteristic symptoms and adaptive behaviors of children with autism, as well as the distribution of autism severity groups across gender. Study Design: Cross-sectional observational study. Place and Duration of Study: Special Education Schools of Rawalpindi and Islamabad, from September 2011 to January 2012. Methodology: Thirty nine children of either gender, aged 3 - 16 years and enrolled in special education schools, fulfilled the DSM-IV-TR criteria of autism. Among those, were identified as meeting the criteria of autism. The childhood autism rating scale-2 (CARS-2) was used to study the characteristics and severity of symptoms of autism. Later, adaptive behavior scale (school edition: 2) ABS-S: 2, was administered on children (n=21) to formulate the level of adaptive functioning. Results: There were 15 boys and 8 girls with mean age of 10.6 +- 2.97 years. They showed marked impairment in verbal communication (mean=3.17 +- 0.90) followed by relating to people (mean=2.75 +- 0.83) and general impression (mean=2.73 +- 0.7). Most of the children showed average to below average adaptive behaviors on number and time (n=19, 90.5%), independent functioning (n=17, 81.0%), self direction (n=17, 81.0%), physical development (n=13, 61.9%), responsibility (n=12, 57.1%) and socialization (n=13, 61.9%) as well as poor to very poor adaptive behaviors on prevocational skill (n=15, 71.4%), language development (n=13, 61.9%) and economic development (n=13, 61.9%). The frequency of boys with autism was more towards moderate to severely impaired spectrum, without gender differences in any symptom associated with autism. Conclusion: Comprehension of the presentation of characteristic symptoms of children with autism will be helpful in devising the indigenous intervention plans that are congruent with the level of adaptive functioning. (author)

The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

Directory of Open Access Journals (Sweden)

Jennifer Gerdts

2011-01-01

Full Text Available The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD. The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP, these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD.

Maternal Depressive Symptoms following Autism Spectrum Diagnosis

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Taylor, Julie Lounds; Warren, Zachary E.

2012-01-01

The current study examined depressive symptoms, concerning the week following autism spectrum diagnosis and an average of 1.4 years later, in mothers (n = 75) of young children diagnosed with an autism spectrum disorder (ASD). Over three-quarters of mothers (78.7%) provided retrospective reports of clinically significant depressive symptoms…

The Broader Autism Phenotype and Friendships in Non-Clinical Dyads

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Wainer, Allison L.; Block, Nicole; Donnellan, M. Brent; Ingersoll, Brooke

2013-01-01

The broader autism phenotype (BAP) is a set of subclinical traits qualitatively similar to those observed in autism spectrum disorders. The current study sought to elucidate the association between self- and informant-reports of the BAP and friendships, in a non-clinical sample of college student dyads. Self-informant agreement of the BAP and…

Broad Autism Phenotypic Traits and the Relationship to Sexual Orientation and Sexual Behavior.

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Qualls, Lydia R; Hartmann, Kathrin; Paulson, James F

2018-04-03

Individuals with higher levels of the broad autism phenotype (BAP) have some symptoms of autism spectrum disorder (ASD). Like individuals with ASD, people with higher-BAP may have fewer sexual experiences and may experience more same-sex attraction. This study measured BAP traits, sexual experiences, and sexual orientation in typically developing (TD) individuals to see if patterns of sexual behavior and sexual orientation in higher-BAP resemble those in ASD. Although BAP characteristics did not predict sexual experiences, one BAP measure significantly predicted sexual orientation, β = 0.22, t = 2.72, p = .007, controlling for demographic variables (R 2 change = .04, F = 7.41, p = .007), showing individuals with higher-BAP also reported increased same-sex attraction. This finding supports the hypothesis that individuals with higher-BAP resemble ASD individuals in being more likely than TD individuals to experience same-sex attraction.

Maternal Vitamin D Levels and the Autism Phenotype among Offspring

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Whitehouse, Andrew J. O.; Holt, Barbara J.; Serralha, Michael; Holt, Patrick G.; Hart, Prue H.; Kusel, Merci M. H.

2013-01-01

We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype. Serum 25(OH)-vitamin D concentrations of 929 women were measured at 18 weeks' pregnancy. The mothers of the three children with a clinical diagnosis of autism spectrum disorder had 25(OH)-vitamin D concentrations above the population mean.…

Exploring Anxiety Symptoms in a Large-Scale Twin Study of Children with Autism Spectrum Disorders, Their Co-Twins and Controls

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Hallett, Victoria; Ronald, Angelica; Colvert, Emma; Ames, Catherine; Woodhouse, Emma; Lietz, Stephanie; Garnett, Tracy; Gillan, Nicola; Rijsdijk, Fruhling; Scahill, Lawrence; Bolton, Patrick; Happé, Francesca

2013-01-01

Background: Although many children with autism spectrum disorders (ASDs) experience difficulties with anxiety, the manifestation of these difficulties remains unresolved. The current study assessed anxiety in a large population-based twin sample, aged 10-15 years. Phenotypic analyses were used to explore anxiety symptoms in children with ASDs,…

Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes

Science.gov (United States)

2012-12-05

teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals and district standard into daily teaching...W403 Columbus, OH 43205 Final Report Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes...QFOXGHDUHDFRGH 1.0 Summary In 2006, the Central Ohio Registry for Autism (CORA) was initiated as a collaboration between Wright-Patterson Air

New interview and observation measures of the broader autism phenotype : group differentiation

NARCIS (Netherlands)

de Jonge, Maretha; Parr, Jeremy; Rutter, Michael; Wallace, Simon; Kemner, Chantal|info:eu-repo/dai/nl/96717041; Bailey, Anthony; van Engeland, Herman; Pickles, Andrew

To identify the broader autism phenotype (BAP), the Family History Interview subject and informant versions and an observational tool (Impression of Interviewee), were developed. This study investigated whether the instruments differentiated between parents of children with autism, and parents of

New Interview and Observation Measures of the Broader Autism Phenotype : Group Differentiation

NARCIS (Netherlands)

de Jonge, Maretha; Parr, Jeremy; Rutter, Michael; Wallace, Simon; Kemner, Chantal; Bailey, Anthony; van Engeland, Herman; Pickles, Andrew

2015-01-01

To identify the broader autism phenotype (BAP), the Family History Interview subject and informant versions and an observational tool (Impression of Interviewee), were developed. This study investigated whether the instruments differentiated between parents of children with autism, and parents of

Genetically meaningful phenotypic subgroups in autism spectrum disorders.

Science.gov (United States)

Veatch, O J; Veenstra-Vanderweele, J; Potter, M; Pericak-Vance, M A; Haines, J L

2014-03-01

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong evidence for genetic susceptibility. However, the effect sizes for implicated chromosomal loci are small, hard to replicate and current evidence does not explain the majority of the estimated heritability. Phenotypic heterogeneity could be one phenomenon complicating identification of genetic factors. We used data from the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, head circumferences, and ages at exams as classifying variables to identify more clinically similar subgroups of individuals with ASD. We identified two distinct subgroups of cases within the Autism Genetic Resource Exchange dataset, primarily defined by the overall severity of evaluated traits. In addition, there was significant familial clustering within subgroups (odds ratio, OR ≈ 1.38-1.42, P definition that should increase power to detect genetic factors influencing risk for ASD. © 2013 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Symptoms of Autism among Children with Congenital Deafblindness

Science.gov (United States)

Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

The Experiences of Late-Diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype

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Bargiela, Sarah; Steward, Robyn; Mandy, William

2016-01-01

We used Framework Analysis to investigate the female autism phenotype and its impact upon the under-recognition of autism spectrum conditions (ASC) in girls and women. Fourteen women with ASC (aged 22-30 years) diagnosed in late adolescence or adulthood gave in-depth accounts of: "pretending to be normal"; of how their gender led various…

An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data.

Science.gov (United States)

Mugzach, Omri; Peleg, Mor; Bagley, Steven C; Guter, Stephen J; Cook, Edwin H; Altman, Russ B

2015-08-01

Our goal is to create an ontology that will allow data integration and reasoning with subject data to classify subjects, and based on this classification, to infer new knowledge on Autism Spectrum Disorder (ASD) and related neurodevelopmental disorders (NDD). We take a first step toward this goal by extending an existing autism ontology to allow automatic inference of ASD phenotypes and Diagnostic & Statistical Manual of Mental Disorders (DSM) criteria based on subjects' Autism Diagnostic Interview-Revised (ADI-R) assessment data. Knowledge regarding diagnostic instruments, ASD phenotypes and risk factors was added to augment an existing autism ontology via Ontology Web Language class definitions and semantic web rules. We developed a custom Protégé plugin for enumerating combinatorial OWL axioms to support the many-to-many relations of ADI-R items to diagnostic categories in the DSM. We utilized a reasoner to infer whether 2642 subjects, whose data was obtained from the Simons Foundation Autism Research Initiative, meet DSM-IV-TR (DSM-IV) and DSM-5 diagnostic criteria based on their ADI-R data. We extended the ontology by adding 443 classes and 632 rules that represent phenotypes, along with their synonyms, environmental risk factors, and frequency of comorbidities. Applying the rules on the data set showed that the method produced accurate results: the true positive and true negative rates for inferring autistic disorder diagnosis according to DSM-IV criteria were 1 and 0.065, respectively; the true positive rate for inferring ASD based on DSM-5 criteria was 0.94. The ontology allows automatic inference of subjects' disease phenotypes and diagnosis with high accuracy. The ontology may benefit future studies by serving as a knowledge base for ASD. In addition, by adding knowledge of related NDDs, commonalities and differences in manifestations and risk factors could be automatically inferred, contributing to the understanding of ASD pathophysiology. Copyright �

Autism Symptom Topography and Maternal Socioemotional Functioning

Science.gov (United States)

Ekas, Naomi; Whitman, Thomas L.

2010-01-01

Researchers examining the relationship of autism "symptomatology" and maternal stress have defined symptomatology in terms of level of severity, frequency of occurrence, or symptom type. In the present study, the relationship of maternal perceptions of these dimensions, along with a fourth, symptom diversity, and negative and positive indices of…

New Interview and Observation Measures of the Broader Autism Phenotype: Group Differentiation

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de Jonge, Maretha; Parr, Jeremy; Rutter, Michael; Wallace, Simon; Kemner, Chantal; Bailey, Anthony; van Engeland, Herman; Pickles, Andrew

2015-01-01

To identify the broader autism phenotype (BAP), the Family History Interview subject and informant versions and an observational tool (Impression of Interviewee), were developed. This study investigated whether the instruments differentiated between parents of children with autism, and parents of children with Down syndrome (DS). The BAP scores of…

Broader Autism Phenotype in Iranian Parents of Children with Autism Spectrum Disorders vs. Normal Children

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Mohammad Reza Mohammadi

2012-12-01

Full Text Available Objective: The aim of the present study was to compare the broader autism phenotype in Iranian parents of children with autism spectrum disorders and parents of typically developing children.Method: Parents of children with ASD and parents of typically developing children were asked to complete the Persian version of the Autism Spectrum Quotient (AQ. In the ASD group, families included 204 parents (96 fathers and 108 mothers of children diagnosed as having autism (Autistic Disorder, or AD (n=124, Asperger Syndrome (AS or High Functioning Autism (HFA (n=48 and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS (n=32 by psychiatrists based on the Diagnostic and Statistical Manual of Mental Disorders-4thedition (DSM-IV-TR criteria. In the control group, 210 (108 fathers and 102 mothers parents of typically developing children. Parents of typically developing children were selected from four primary schools. Based on family reports, their children did not have any psychiatric problems. Total AQ score and each of the 5 subscales were analyzed using two-way ANOVAs with sex and group as factors.Results: The mean age of ASD fathers was 40.6 years (SD=5.96; range 31-54, and of ASD mothers was 34.7 years (SD=4.55; range 28-45. The mean age of control fathers was 37 years (SD=4.6; range 29-45 and of control mothers was 34.11 years (SD=4.86; range 28-45. Group differences were found in age (p‹0/001. On total AQ, a main effect for group and sex was found. ASD parents scored higher than controls (F(1,410=77.876, P‹0/001 and males scored higher than females (F(1,410=23.324, P‹0/001. Also, Group by Sex interaction was significant (F(1,410=4.986, P‹0/05. Results of MANOVA analysis displayed significant differences between ASD's subgroups on total AQ and subscales scores (F (15, 1121 = 13.924, p<0.0005; Wilk's Lambda= 0.624, partial =0.145. Pairwise comparisons between ASD's subgroups and Normal group showed that mean scores for the

Predictors of Mental Health in Chinese Parents of Children with Autism Spectrum Disorder (ASD)

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Su, Xueyun; Cai, Ru Ying; Uljarevic, Mirko

2018-01-01

The aim of this study was to explore the influence of parental intolerance of Uncertainty (IU), sensory sensitivity (SS) and Broader Autism Phenotype (BAP), as well as the severity of their children's autism symptoms and co-morbid symptoms, on the mental health of Chinese parents of children with autism spectrum disorder (ASD). One hundred and…

Autism Spectrum Symptoms in a Tourette's Disorder Sample

NARCIS (Netherlands)

Darrow, Sabrina M.; Grados, Marco; Sandor, Paul; Hirschtritt, Matthew E.; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.; Mathews, Carol A.

Objective: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

Autism Spectrum Symptoms in a Tourette's Disorder Sample

NARCIS (Netherlands)

Darrow, Sabrina M; Grados, Marco A; Sandor, Paul; Hirschtritt, Matthew E; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

2017-01-01

Objective Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

Subclinical autism spectrum symptoms in pediatric obsessive-compulsive disorder.

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Arildskov, Trine Wigh; Højgaard, David R M A; Skarphedinsson, Gudmundur; Thomsen, Per Hove; Ivarsson, Tord; Weidle, Bernhard; Melin, Karin Holmgren; Hybel, Katja A

2016-07-01

The literature on subclinical autism spectrum (ASD) symptoms in pediatric obsessive-compulsive disorder (OCD) is scarce, and it remains unclear whether ASD symptoms are related to OCD severity. The aims of the present study were to assess the prevalence of ASD symptoms and age and sex differences in children and adolescents with OCD, and to explore the relation between ASD symptoms and OCD severity. This is the largest study of ASD symptoms in an OCD population to date, and the first directly aimed at elucidating sex and age differences in this matter. The study used baseline data from the Nordic Long-term OCD Treatment Study in which parents of 257 children and adolescents with OCD aged 7-17 completed the Autism Spectrum Screening Questionnaire. OCD severity was assessed with the Children's Yale-Brown Obsessive Compulsive Scale. Pediatric OCD patients were found to exhibit elevated rates of ASD symptoms compared to a norm group of school-age children. ASD symptoms were concentrated in a subgroup with a prevalence of 10-17 %. This subgroup was characterized by a male preponderance with a sex ratio of approximately 2.6:1, while children versus adolescents with OCD exhibited similar rates. Autism-specific social and communication difficulties were not related to OCD severity, while restricted repetitive behavior was positively related to OCD severity. The results indicate that clinicians need to be aware of ASD symptoms in children and adolescents with OCD since one out of ten exhibits such symptoms at a clinical sub-threshold.

Why We Should Study the Broader Autism Phenotype in Typically Developing Populations

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Landry, Oriane; Chouinard, Philippe A.

2016-01-01

The broader autism phenotype (BAP) is a term applied to individuals with personality and cognitive traits that are similar to but milder than those observed in autism spectrum disorder (ASD). Subtle autistic traits in the core diagnostic domains of social communication and rigid behavior were described in family members of people with an ASD even…

The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

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Emily Lorang

2017-12-01

Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

Psychological Adjustment and Sibling Relationships in Siblings of Children with Autism Spectrum Disorders: Environmental Stressors and the Broad Autism Phenotype

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Petalas, Michael A.; Hastings, Richard P.; Nash, Susie; Hall, Louise M.; Joannidi, Helen; Dowey, Alan

2012-01-01

Research with siblings of children with Autism Spectrum Disorders (ASD) suggests that they may be at increased risk for behavioural and emotional problems and relatively poor sibling relationships. This study investigated a diathesis-stress model, whereby the presence of Broad Autism Phenotype features in the typically developing siblings might…

Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

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2013-03-14

behavioral teaching strategies and best practice for teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals...AFRL-SA-WP-TR-2013-0013 Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes...Genetic Mapping for the Discovery of Autism Susceptibility Genes 5a. CONTRACT NUMBER N/A 5b. GRANT NUMBER N/A 5c. PROGRAM ELEMENT NUMBER N/A 6

Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?

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Taylor, Lauren J.; Maybery, Murray T.; Wray, John; Ravine, David; Hunt, Anna; Whitehouse, Andrew J. O.

2013-01-01

Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband…

Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity.

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Tordjman, S; Cohen, D; Coulon, N; Anderson, G M; Botbol, M; Canitano, R; Roubertoux, P L

2017-01-30

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. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2017. Published by Elsevier Ltd.

The Association between Emotional and Behavioral Problems and Gastrointestinal Symptoms among Children with High-Functioning Autism

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Mazefsky, Carla A.; Schreiber, Dana R.; Olino, Thomas M.; Minshew, Nancy J.

2014-01-01

This study investigated the association between gastrointestinal symptoms and a broad set of emotional and behavioral concerns in 95 children with high-functioning autism and IQ scores = 80. Gastrointestinal symptoms were assessed via the Autism Treatment Network's Gastrointestinal Symptom Inventory, and data were gathered on autism symptom…

Brief Report: Effects of Cognitive Behavioral Therapy on Parent-Reported Autism Symptoms in School-Age Children with High-Functioning Autism

OpenAIRE

Wood, Jeffrey J.; Drahota, Amy; Sze, Karen; Dyke, Marilyn; Decker, Kelly; Fujii, Cori; Bahng, Christie; Renno, Patricia; Hwang, Wei-Chin; Spiker, Michael

2009-01-01

This pilot study tested the effect of cognitive behavioral therapy (CBT) on parent-reported autism symptoms. Nineteen children with autism spectrum disorders and an anxiety disorder (7?11?years old) were randomly assigned to 16 sessions of CBT or a waitlist condition. The CBT program emphasized in vivo exposure supported by parent training and school consultation to promote social communication and emotion regulation skills. Parents completed a standardized autism symptom checklist at baselin...

Ubiquinol Improves Symptoms in Children with Autism

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Anna Gvozdjáková

2014-01-01

Full Text Available Background. Autism is a spectrum of neurodevelopmental disorders with manifestation within 3 years after birth. Manifestations of autism include behavior problems (hyperactivity, toys destruction, self-harm, and agression and sleep and eating disorders. Etiology of autism is poorly understood. Oxidative stress and antioxidants can participate in pathobiochemical mechanisms of autism. Methods. Twenty-four children, aged 3–6 years, with autism according to the DSM IV criteria and using CARS were included in the study. Concentrations of CoQ10-TOTAL, γ- and α-tocopherol, β-carotene, and lipid peroxidation were determined in plasma before and after three months of supportive therapy with ubiquinol at a daily dose 2×50 mg. Data on behavior of the children were collected from parents at the same time. Results. Ubiquinol supportive therapy improved symptoms in children with autism, as communication with parents (in 12%, verbal communication (in 21%, playing games of children (in 42%, sleeping (in 34%, and food rejection (in 17%, with CoQ10-TOTAL plasma level above 2.5 μmol/L. Conclusions. Beneficial effect of ubiquinol in children with autism has been demonstrated for the first time. We assume that plasma concentration of CoQ10-TOTAL and lipid peroxidation could be used as relevant biomarkers of ubiquinol supportive therapy.

[Behavioral phenotypes of autism spectrum disorder patients and their parents].

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Situ, Mingjing; Hu, Xiao; Cai, Jia; Guo, Kuifang; Huang, Yi

2015-12-01

To explore the relationship between the behavior phenotypes of patients with autism spectrum disorder (ASD) and their parents through family study. Forty-five core families with ASD and 30 control families from Chengdu area were examined using Autism Spectrum Quotient (AQ). Descriptive statistical analysis, correlation analysis, and Logistic regression analysis were used to investigate the effect of various factors, especially genetic factors that may affect the pathogenesis of ASD. The social skills factor and communication factor of the father's AQ scale, as well as the mother's age of childbearing and AQ social skills factor are related to whether children with ASD (R were 0.46, 0.39, 0.39 and 0.36, Pautism. ASD may be influenced by both genetic and environmental factors. The autistic behavior phenotype of parents is a risk factor for ASD and is associated with developmental anomalies of early childhood.

The association between emotional and behavioral problems and gastrointestinal symptoms among children with high-functioning autism.

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Mazefsky, Carla A; Schreiber, Dana R; Olino, Thomas M; Minshew, Nancy J

2014-07-01

This study investigated the association between gastrointestinal symptoms and a broad set of emotional and behavioral concerns in 95 children with high-functioning autism and IQ scores ≥ 80. Gastrointestinal symptoms were assessed via the Autism Treatment Network's Gastrointestinal Symptom Inventory, and data were gathered on autism symptom severity, adaptive behavior, and multiple internalizing and externalizing problems. The majority (61%) of children had at least one reported gastrointestinal symptom. Emotional and behavioral problems were also common but with a high degree of variability. Children with and without gastrointestinal problems did not differ in autism symptom severity, adaptive behavior, or total internalizing or externalizing problem scores. However, participants with gastrointestinal problems had significantly higher levels of affective problems. This finding is consistent with a small body of research noting a relationship between gastrointestinal problems, irritability, and mood problems in autism spectrum disorder. More research to identify the mechanisms underlying this relationship in autism spectrum disorder is warranted. Future research should include a medical assessment of gastrointestinal concerns, longitudinal design, and participants with a range of autism spectrum disorder severity in order to clarify the directionality of this relationship and to identify factors that may impact heterogeneity in the behavioral manifestation of gastrointestinal concerns. © The Author(s) 2013.

The broader autism phenotype in infancy: when does it emerge?

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Ozonoff, Sally; Young, Gregory S; Belding, Ashleigh; Hill, Monique; Hill, Alesha; Hutman, Ted; Johnson, Scott; Miller, Meghan; Rogers, Sally J; Schwichtenberg, A J; Steinfeld, Marybeth; Iosif, Ana-Maria

2014-04-01

This study had 3 goals, which were to examine the following: the frequency of atypical development, consistent with the broader autism phenotype, in high-risk infant siblings of children with autism spectrum disorder (ASD); the age at which atypical development is first evident; and which developmental domains are affected. A prospective longitudinal design was used to compare 294 high-risk infants and 116 low-risk infants. Participants were tested at 6, 12, 18, 24, and 36 months of age. At the final visit, outcome was classified as ASD, Typical Development (TD), or Non-TD (defined as elevated Autism Diagnostic Observation Schedule [ADOS] score, low Mullen Scale scores, or both). Of the high-risk group, 28% were classified as Non-TD at 36 months of age. Growth curve models demonstrated that the Non-TD group could not be distinguished from the other groups at 6 months of age, but differed significantly from the Low-Risk TD group by 12 months on multiple measures. The Non-TD group demonstrated atypical development in cognitive, motor, language, and social domains, with differences particularly prominent in the social-communication domain. These results demonstrate that features of atypical development, consistent with the broader autism phenotype, are detectable by the first birthday and affect development in multiple domains. This highlights the necessity for close developmental surveillance of infant siblings of children with ASD, along with implementation of appropriate interventions as needed. Copyright © 2014 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

Broader Autism Phenotype in Siblings of Children with ASD—A Review

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Pisula, Ewa; Ziegart-Sadowska, Karolina

2015-01-01

Although less pronounced, social, cognitive, and personality characteristics associated with autism spectrum disorders (ASD) may be present in people who do not meet ASD diagnostic criteria, especially in first-degree relatives of individuals with ASD. Research on these characteristics, referred to as broader autism phenotype (BAP), provides valuable data on potential expressions of autism-specific deficits in the context of family relations. This paper offers a review of research on BAP in siblings of individuals with ASD, focusing on reports regarding social, communication, and cognitive deficits, published from 1993 to 2014. The studies are divided into two groups based on participants’ age: papers on preschool and older siblings of individuals with ASD; and publications on infants at risk for ASD. On the basis of this review, suggestions are offered for further research and its significance for our understanding of the genetic determinants of autism. PMID:26068453

Repint of "Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity".

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Tordjman, S; Cohen, D; Anderson, G M; Botbol, M; Canitano, R; Coulon, N; Roubertoux, P L

2018-06-01

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. Given the high genetic and etiological heterogeneity of autism, autism can be viewed as a behavioral syndrome related to known genetic disorders (syndromic autism) or currently unknown disorders (apparent non-syndromic autism), rather than a specific categorical mental disorder. It highlights the need to study autism phenotype and developmental trajectory through a multidimensional, non-categorical approach with multivariate analyses within autism spectrum disorder but also across mental disorders, and to conduct systematically clinical genetic examination searching for genetic disorders in all individuals (children but also adults) with autism. Copyright © 2018. Published by Elsevier Ltd.

Attention deficit/hyperactivity disorder symptoms moderate cognition and behavior in children with autism spectrum disorders.

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Yerys, Benjamin E; Wallace, Gregory L; Sokoloff, Jennifer L; Shook, Devon A; James, Joette D; Kenworthy, Lauren

2009-12-01

Recent estimates suggest that 31% of children with autism spectrum disorders (ASD) meet diagnostic criteria for attention deficit/hyperactivity disorder (ADHD), and another 24% of children with ASD exhibit subthreshold clinical ADHD symptoms. Presence of ADHD symptoms in the context of ASD could have a variety of effects on cognition, autistic traits, and adaptive/maladaptive behaviors including: exacerbating core ASD impairments; adding unique impairments specific to ADHD; producing new problems unreported in ASD or ADHD; having no clear impact; or producing some combination of these scenarios. Children with ASD and co-morbid ADHD symptoms (ASD+ADHD; n = 21), children with ASD without ADHD (ASD; n = 28), and a typically developing control group (n = 21) were included in the study; all groups were matched on age, gender-ratio, IQ, and socioeconomic status. Data were collected on verbal and spatial working memory, response inhibition, global executive control (EC), autistic traits, adaptive functioning, and maladaptive behavior problems. In this sample, the presence of ADHD symptoms in ASD exacerbated impairments in EC and adaptive behavior and resulted in higher autistic trait, and externalizing behavior ratings. ADHD symptoms were also associated with greater impairments on a lab measure of verbal working memory. These findings suggest that children with ASD+ADHD symptoms present with exacerbated impairments in some but not all domains of functioning relative to children with ASD, most notably in adaptive behavior and working memory. Therefore, ADHD may moderate the expression of components of the ASD cognitive and behavioral phenotype, but ASD+ADHD may not represent an etiologically distinct phenotype from ASD alone.

Brief Report: Autism Symptoms in Infants with Fragile X Syndrome

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Roberts, Jane E.; Tonnsen, Bridgette L.; McCary, Lindsay M.; Caravella, Kelly E.; Shinkareva, Svetlana V.

2016-01-01

Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75% of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our…

Attention deficit/hyperactivity disorder in children and adolescents with autism spectrum disorder: symptom or syndrome?

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Sinzig, Judith; Walter, Daniel; Doepfner, Manfred

2009-09-01

This study aims to evaluate ADHD-like symptoms in children with autism spectrum disorder (ASD) based on single-item analysis, as well as the comparison of two ASD subsamples of children with ADHD (ASD+) and without ADHD (ASD-). Participants are 83 children with ASD. Dimensional and categorical aspects of ADHD are evaluated using a diagnostic symptom checklist according to DSM-IV. Of the sample, 53% fulfill DSM-IV criteria for ADHD. The comparison of the ASD+ and the ASD- samples reveals differences in age and IQ. Correlations of ADHD and PDD show significant results for symptoms of hyperactivity with impairment in communication and for inattention with stereotyped behavior. Item profiles of ADHD symptoms in the ASD+ sample are similar to those in a pure ADHD sample. The results of our study reveal a high phenotypical overlap between ASD and ADHD. The two identified subtypes, inattentive-stereotyped and hyperactive-communication impaired, reflect the DSM classification and may theoretically be a sign of two different neurochemical pathways, a dopaminergic and a serotonergic.

Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families.

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Losh, Molly; Childress, Debra; Lam, Kristen; Piven, Joseph

2008-06-05

This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple-incidence autism families (MIAF), single-incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies. (c) 2007 Wiley-Liss, Inc.

Social phenotypes of autism spectrum disorders and Williams syndrome: similarities and differences

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Kosuke eAsada

2012-07-01

Full Text Available Autism spectrum disorders (ASD and Williams syndrome (WS both are neurodevelopmental disorders, each with a unique social phenotypic pattern. This review article aims to define the similarities and differences between the social phenotypes of ASD and WS. We review studies that have examined individuals with WS using diagnostic assessments such as the Autism Diagnostic Observation Schedule (ADOS, cross-syndrome direct comparison studies, and studies that have individually examined either disorder. We conclude that (1 Individuals with these disorders show quite contrasting phenotypes for face processing (i.e., preference to faces and eyes and sociability (i.e., interest in and motivation to interact with others, and (2 Although the ADOS and a direct comparison study on pragmatic language ability suggest more deficits in ASD, individuals with WS are similarly impaired on social cognition and communicative skills. In light of these results, we discuss how cross-syndrome comparisons between ASD and WS can contribute to developmental theory, cognitive neuroscience, and the development and choice of clinical treatments.

Autism and ADHD Symptoms in Patients with OCD: Are They Associated with Specific OC Symptom Dimensions or OC Symptom Severity?

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Anholt, Gideon E.; Cath, Danielle C.; van Oppen, Patricia; Eikelenboom, Merijn; Smit, Johannes H.; van Megen, Harold; van Balkom, Anton J. L. M.

2010-01-01

In obsessive-compulsive disorder (OCD), the relationship between autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD) symptom, and obsessive-compulsive (OC) symptom dimensions and severity has scarcely been studied. Therefore, 109 adult outpatients with primary OCD were compared to 87 healthy controls on OC, ADHD and…

Broader autistic phenotype in parents of children with autism: Autism Spectrum Quotient-Turkish version.

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Kose, Sezen; Bora, Emre; Erermiş, Serpil; Özbaran, Burcu; Bildik, Tezan; Aydın, Cahide

2013-01-01

The Autism Spectrum Quotient (AQ) is a self-assessment screening instrument for measuring the degree to which an individual of normal intelligence shows autistic traits. Genetic factors could be responsible for the relatives of individuals with autism exhibiting higher than normal rates of autism-related impairments, referred to as the 'broader autism phenotype' (BAP). The aim of this study was to test whether there is a difference between the parents of autistic and those of typically developing children (TDC) on AQ scores in a Turkish sample. The AQ total and subscale scores of the 100 parents (47 fathers, 53 mothers) of children with autistic disorder (AD) were compared with the 100 parents (48 fathers, 52 mothers) of TDC. The parents of AD children scored significantly higher than the TDC parents on total AQ score, and two of five subscale scores; social skills, and communication. The other three subscales (attention to detail, attention switching, imagination) did not differentiate groups. There was no significant difference between mothers and fathers on any AQ scores, neither in the AD nor TDC group. The group × gender interaction was not significant on the total or the five subscale scores of AQ. Social skill and communication subscales differentiate AD parents more successfully, and are more sensitive, as reported in other studies. The present findings confirm that social skill and communication impairments in parents of children with autism spectrum disorders are indicators of BAP. © 2013 The Authors. Psychiatry and Clinical Neurosciences © 2013 Japanese Society of Psychiatry and Neurology.

Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder.

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Suh, Joyce; Orinstein, Alyssa; Barton, Marianne; Chen, Chi-Ming; Eigsti, Inge-Marie; Ramirez-Esparza, Nairan; Fein, Deborah

2016-11-01

The study examines whether "optimal outcome" (OO) children, despite no longer meeting diagnostic criteria for Autism Spectrum Disorder (ASD), exhibit personality traits often found in those with ASD. Nine zero acquaintance raters evaluated Broader Autism Phenotype (BAP) and Big Five personality traits of 22 OO individuals, 27 high functioning individuals with ASD (HFA), and 23 typically developing (TD) peers. HFA children displayed higher ratings than their peers on all BAP traits. OO were indistinguishable from TD, with the exception of greater extraversion (e.g., increased talkativeness), a potential tendency to be less emotionally stable, and pragmatic language deficits such as getting sidetracked in conversation. Overall, OO individuals are not showing BAP characteristics, but may be subject to other mild ADHD-like characteristics.

The Broader Autism Phenotype in Mothers is Associated with Increased Discordance between Maternal-Reported and Clinician-Observed Instruments That Measure Child Autism Spectrum Disorder

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Rubenstein, Eric; Edmondson Pretzel, Rebecca; Windham, Gayle C.; Schieve, Laura A.; Wiggins, Lisa D.; DiGuiseppi, Carolyn; Olshan, Andrew F.; Howard, Annie G.; Pence, Brian W.; Young, Lisa; Daniels, Julie

2017-01-01

Autism spectrum disorder (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and…

Disruptive Mood Dysregulation Disorder Symptoms by Age in Autism, ADHD, and General Population Samples

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Mayes, Susan Dickerson; Kokotovich, Cari; Mathiowetz, Christine; Baweja, Raman; Calhoun, Susan L.; Waxmonsky, James

2017-01-01

Disruptive mood dysregulation disorder (DMDD) is a controversial "DSM-5" diagnosis. It is not known how DMDD symptoms vary by age and if differences are similar for autism, ADHD, and general population samples. Our study analyzed the two DMDD symptoms (irritable-angry mood and temper outbursts) in 1,827 children with autism or ADHD (with…

Review of Factor Analytic Studies Examining Symptoms of Autism Spectrum Disorders

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Shuster, Jill; Perry, Adrienne; Bebko, James; Toplak, Maggie E.

2014-01-01

Factor analytic studies have been conducted to examine the inter-relationships and degree of overlap among symptoms in Autism Spectrum Disorder (ASD). This paper reviewed 36 factor analytic studies that have examined ASD symptoms, using 13 different instruments. Studies were grouped into three categories: Studies with all DSM-IV symptoms, studies…

Quantitative Autism Traits in First Degree Relatives: Evidence for the Broader Autism Phenotype in Fathers, but Not in Mothers and Siblings

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De la Marche, Wouter; Noens, Ilse; Luts, Jan; Scholte, Evert; Van Huffel, Sabine; Steyaert, Jean

2012-01-01

Autism spectrum disorder (ASD) symptoms are present in unaffected relatives and individuals from the general population. Results are inconclusive, however, on whether unaffected relatives have higher levels of quantitative autism traits (QAT) or not. This might be due to differences in research populations, because behavioral data and molecular…

Gender Differences in Symptoms of Autism Spectrum Disorders in Toddlers

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Sipes, Megan; Matson, Johnny L.; Worley, Julie A.; Kozlowski, Alison M.

2011-01-01

Gender differences in symptoms representing the triad of impairments of Autism Spectrum Disorders remain unclear. To date, the majority of research conducted on this topic has utilized samples of older children. Thus, the purpose of the current study was to utilize a sample of toddlers to investigate gender differences in symptom endorsements of…

Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores

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McDuffie, Andrea; Thurman, Angela John; Hagerman, Randi J.; Abbeduto, Leonard

2015-01-01

Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

Autism.

Science.gov (United States)

Levy, Susan E; Mandell, David S; Schultz, Robert T

2009-11-07

Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10,000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed.

Phenotypic continuum between autism and schizophrenia: Evidence from the Movie for the Assessment of Social Cognition (MASC).

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Martinez, Gilles; Alexandre, Charlotte; Mam-Lam-Fook, Célia; Bendjemaa, Narjes; Gaillard, Raphaël; Garel, Patricia; Dziobek, Isabel; Amado, Isabelle; Krebs, Marie-Odile

2017-07-01

Schizophrenic (SCZ) and autism (ASD) spectrum disorders share several features including social cognition impairments. In SCZ, the link between symptomatic dimensions and social cognition deficits remains unclear. The Movie for the Assessment of Social Cognition (MASC) test, available in several languages including English, investigates mental state attribution capabilities in complex interpersonal situations. After its translation into French, we used MASC to direct compare social cognition in 36 young participants with SCZ to 19 with ASD and 20 healthy controls (HC) matched for gender, age (18-25y.o.) and level of education. The MASC discriminated each group from the others, patients with SCZ exhibiting difficulties compared to ASD (MASC total score 28.1 (4) and 24.2 (6.6), respectively; pautism quotient, and with disorganization symptoms. Finally, in SCZ, over-mentalizing difficulties were correlated with age at disease onset. Our results demonstrate the validity of the French version of the MASC and bring direct evidence supporting the hypothesis of a phenotypic continuum between autism and schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

LAMB1 polymorphism is associated with autism symptom severity in Korean autism spectrum disorder patients.

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Kim, Young Jong; Park, Jin Kyung; Kang, Won Sub; Kim, Su Kang; Park, Hae Jeong; Nam, Min; Kim, Jong Woo

2015-01-01

LAMB1 encodes laminin beta-1, which is expressed during early development of the human nervous system, and could be involved in the pathogenesis of neurodevelopmental disorders. In our study, we aimed to investigate whether single nucleotide polymorphisms (SNPs) in LAMB1 were associated with autism spectrum disorder (ASD) and with related clinical severities of ASD. Two coding SNPs (rs20556 and rs25659) and two intronic SNPs (rs2158836 and rs2237659) were compared between 180 patients with ASD and 147 healthy control subjects using direct sequencing. The Korean version of the Childhood Autism Rating Scale (K-CARS) was used to assess clinical severities. Multiple logistic regression models were employed to analyze genetic data, and associations with symptom severity were tested with the Kruskal-Wallis and the Mann-Whitney U tests. None of the four examined SNPs was associated with ASD risk. However, the GG genotype of rs2158836 was associated with more severe symptoms for the "object use" and "non-verbal communication" measures. The results of our study suggest the association between rs2158836 polymorphisms and symptom severity in ASD.

Family function, Parenting Style and Broader Autism Phenotype as Predicting Factors of Psychological Adjustment in Typically Developing Siblings of Children with Autism Spectrum Disorders.

Science.gov (United States)

Mohammadi, Mohammadreza; Zarafshan, Hadi

2014-04-01

Siblings of children with autism are at a greater risk of experiencing behavioral and social problems. Previous researches had focused on environmental variables such as family history of autism spectrum disorders (ASDs), behavior problems in the child with an ASD, parental mental health problems, stressful life events and "broader autism phenotype" (BAP), while variables like parenting style and family function that are shown to influence children's behavioral and psychosocial adjustment are overlooked. The aim of the present study was to reveal how parenting style and family function as well as BAP effect psychological adjustment of siblings of children with autism. The Participants included 65 parents who had one child with an Autism Spectrum Disorder and one typically developing child. Of the children with ASDs, 40 were boys and 25 were girls; and they were diagnosed with ASDs by a psychiatrist based on DSM-IV-TR criteria and Autism Diagnostic Interview-Revised (ADI-R). The Persian versions of the six scales were used to collect data from the families. Pearson's correlation test and regression analysis were used to determine which variables were related to the psychological adjustment of sibling of children with ASDs and which variables predicted it better. Significant relationships were found between Strengths and Difficulties Questionnaire (SDQ) total difficulties, prosocial behaviors and ASDs symptoms severity, parenting styles and some aspects of family function. In addition, siblings who had more BAP characteristics had more behavior problems and less prosocial behavior. Behavioral problems increased and prosocial behavior decreased with permissive parenting style. Besides, both of authoritarian and authoritative parenting styles led to a decrease in behavioral problems and an increase in prosocial behaviors. Our findings revealed that some aspects of family function (affective responsiveness, roles, problem solving and behavior control) were significantly

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

DEFF Research Database (Denmark)

Loviglio, M N; Leleu, M; Männik, K

2017-01-01

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phen...

Depression Symptoms in Boys with Autism Spectrum Disorder and Comparison Samples

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Gadow, Kenneth D.; Guttmann-Steinmetz, Sarit; Rieffe, Carolien; DeVincent, Carla J.

2012-01-01

This study compares severity of specific depression symptoms in boys with autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), or chronic multiple tic disorder (CMTD) and typically developing boys (Controls). Children were evaluated with parent and teacher versions of the Child Symptom Inventory-4 (CSI-4) and a…

Core symptoms of autism improved after vitamin D supplementation.

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Jia, Feiyong; Wang, Bing; Shan, Ling; Xu, Zhida; Staal, Wouter G; Du, Lin

2015-01-01

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder caused by a complex interaction between genetic and environmental risk factors. Among the environmental factors, vitamin D3 (cholecaliferol) seems to play a significant role in the etiology of ASD because this vitamin is important for brain development. Lower concentrations of vitamin D3 may lead to increased brain size, altered brain shape, and enlarged ventricles, which have been observed in patients with ASD. Vitamin D3 is converted into 25-hydroxyvitamin D3 in the liver. Higher serum concentrations of this steroid may reduce the risk of autism. Importantly, children with ASD are at an increased risk of vitamin D deficiency, possibly due to environmental factors. It has also been suggested that vitamin D3 deficiency may cause ASD symptoms. Here, we report on a 32-month-old boy with ASD and vitamin D3 deficiency. His core symptoms of autism improved significantly after vitamin D3 supplementation. This case suggests that vitamin D3 may play an important role in the etiology of ASD, stressing the importance of clinical assessment of vitamin D3 deficiency and the need for vitamin D3 supplementation in case of deficiency. Copyright © 2015 by the American Academy of Pediatrics.

Levels of Text Comprehension in Children with Autism Spectrum Disorders (ASD): The Influence of Language Phenotype

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Lucas, Rebecca; Norbury, Courtenay Frazier

2014-01-01

Many children with autism spectrum disorders (ASD) have reading comprehension difficulties, but the level of processing at which comprehension is most vulnerable and the influence of language phenotype on comprehension skill is currently unclear. We explored comprehension at sentence and passage levels across language phenotypes. Children with ASD…

Rigid-Compulsive Behaviors Are Associated with Mixed Bowel Symptoms in Autism Spectrum Disorder

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Peters, Brittany; Williams, Kent C.; Gorrindo, Phillip; Rosenberg, Daniel; Lee, Evon Batey; Levitt, Pat; Veenstra-VanderWeele, Jeremy

2014-01-01

Based on clinical experience, we hypothesized that rigid-compulsive behaviors are associated with severe constipation and co-occurring diarrhea or underwear staining in children with autism spectrum disorder. Using data from the Autism Treatment Network, we evaluated the association between these gastrointestinal symptoms and measures of rigid…

Preclinical Testing of Novel Oxytocin Receptor Activators in Models of Autism Phenotypes

Science.gov (United States)

2015-11-30

higher incidence of autism observed in male versus female children . BALB/cByJ Cohort 1 (n ¼ 6 per treatment group; 6e7 weeks of age) was tested for acute...Veenstra-Vanderweele, J., 2011. A systematic review of medical treatments for children with autism spectrum disorders. Pediatrics 127, e1312ee1321. Melis...R.L., Leserman, J., Jarskog, L.F., Penn, D.L., 2011. Intranasal oxytocin reduces psychotic symptoms and improves theory of mind and social perception

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder.

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Richard, Annie E; Scheffer, Ingrid E; Wilson, Sarah J

2017-04-01

Richard, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016. To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls. We contrasted these findings with those of relatives of individuals with ASD (ASD-relatives) compared to controls. Furthermore, we examined the relationship of demographic (age, IQ, sex) and epilepsy-related factors (epilepsy onset age, duration, seizure laterality and origin) to FER and ToM. Thirty-one eligible studies of PWE (including 1449 individuals: 77% with temporal lobe epilepsy), and 22 of ASD-relatives (N=1295) were identified by a systematic database search. Analyses revealed reduced FER and ToM in PWE compared to controls (p<0.001), but only reduced ToM in ASD-relatives (p<0.001). ToM was poorer in PWE than ASD-relatives. Only weak associations were found between FER and ToM and epilepsy-related factors. These findings suggest shared mechanisms between epilepsy and ASD, independent of intellectual disability. Copyright © 2017 Elsevier Ltd. All rights reserved.

A Predictive Coding Account of Psychotic Symptoms in Autism Spectrum Disorder

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van Schalkwyk, Gerrit I.; Volkmar, Fred R.; Corlett, Philip R.

2017-01-01

The co-occurrence of psychotic and autism spectrum disorder (ASD) symptoms represents an important clinical challenge. Here we consider this problem in the context of a computational psychiatry approach that has been applied to both conditions--predictive coding. Some symptoms of schizophrenia have been explained in terms of a failure of top-down…

Brief Report: Effects of Cognitive Behavioral Therapy on Parent-Reported Autism Symptoms in School-Age Children with High-Functioning Autism

Science.gov (United States)

Wood, Jeffrey J.; Drahota, Amy; Sze, Karen; Van Dyke, Marilyn; Decker, Kelly; Fujii, Cori; Bahng, Christie; Renno, Patricia; Hwang, Wei-Chin; Spiker, Michael

2009-01-01

This pilot study tested the effect of cognitive behavioral therapy (CBT) on parent-reported autism symptoms. Nineteen children with autism spectrum disorders and an anxiety disorder (7-11 years old) were randomly assigned to 16 sessions of CBT or a waitlist condition. The CBT program emphasized in vivo exposure supported by parent training and…

Change in Autism Symptoms and Maladaptive Behaviors in Adolescence and Adulthood: The Role of Positive Family Processes

OpenAIRE

Woodman, Ashley C.; Smith, Leann E.; Greenberg, Jan S.; Mailick, Marsha R.

2015-01-01

Little is known about outcomes for individuals with autism spectrum disorders (ASD) into adulthood. Several characteristics of individuals with ASD predict long-term outcomes, and the family environment may also play a role. The present study uses a prospective, longitudinal design to describe and predict trajectories of autism symptoms and maladaptive behaviors over 8.5 years in a large, community-based sample of adolescents and adults with ASD. Overall, autism symptoms and maladaptive behav...

The relationship of early communication concerns to developmental delay and symptoms of autism spectrum disorders.

Science.gov (United States)

Turygin, Nicole; Matson, Johnny L; Konst, Matthew; Williams, Lindsey

2013-08-01

Parental concerns related to communication are an oft-cited reason that children present to early intervention clinics. We examine the relationship between early communication first concerns (FCs) and symptoms of ASD. The present study included 3173 toddlers at risk for developmental delay. The Battelle Developmental Inventory, 2nd edition and the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) were used to examine developmental quotient scores and autism symptoms. Significant results were observed with respect to FC group and gender. A significant effect of FC-Communication group was observed with respect to developmental quotient overall and subscale scores, as well as autism symptom scores. Those with communication disorders are a heterogeneous population and do not account for all children who will meet criteria for a diagnosis of an ASD.

Behavioural and cognitive sex/gender differences in autism spectrum condition and typically developing males and females.

Science.gov (United States)

Hull, Laura; Mandy, William; Petrides, K V

2017-08-01

Studies assessing sex/gender differences in autism spectrum conditions often fail to include typically developing control groups. It is, therefore, unclear whether observed sex/gender differences reflect those found in the general population or are particular to autism spectrum conditions. A systematic search identified articles comparing behavioural and cognitive characteristics in males and females with and without an autism spectrum condition diagnosis. A total of 13 studies were included in meta-analyses of sex/gender differences in core autism spectrum condition symptoms (social/communication impairments and restricted/repetitive behaviours and interests) and intelligence quotient. A total of 20 studies were included in a qualitative review of sex/gender differences in additional autism spectrum condition symptoms. For core traits and intelligence quotient, sex/gender differences were comparable in autism spectrum conditions and typical samples. Some additional autism spectrum condition symptoms displayed different patterns of sex/gender differences in autism spectrum conditions and typically developing groups, including measures of executive function, empathising and systemising traits, internalising and externalising problems and play behaviours. Individuals with autism spectrum conditions display typical sex/gender differences in core autism spectrum condition traits, suggesting that diagnostic criteria based on these symptoms should take into account typical sex/gender differences. However, awareness of associated autism spectrum condition symptoms should include the possibility of different male and female phenotypes, to ensure those who do not fit the 'typical' autism spectrum condition presentation are not missed.

From Asperger's Autistischen Psychopathen to DSM-5 Autism Spectrum Disorder and Beyond: A Subthreshold Autism Spectrum Model.

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Dell'Osso, Liliana; Luche, Riccardo Dalle; Gesi, Camilla; Moroni, Ilenia; Carmassi, Claudia; Maj, Mario

2016-01-01

Growing interest has recently been devoted to partial forms of autism, lying at the diagnostic boundaries of those conditions previously diagnosed as Asperger's Disorder. This latter includes an important retrieval of the European classical psychopathological concepts of adult autism to which Hans Asperger referred in his work. Based on the review of Asperger's Autistische Psychopathie , from first descriptions through the DSM-IV Asperger's Disorder and up to the recent DSM-5 Autism Spectrum Disorder, the paper aims to propose a Subthreshold Autism Spectrum Model that encompasses not only threshold-level manifestations but also mild/atypical symptoms, gender-specific features, behavioral manifestations and personality traits associated with Autism Spectrum Disorder. This model includes, but is not limited to, the so-called broad autism phenotype spanning across the general population that does not fully meet Autism Spectrum Disorder criteria. From this perspective, we propose a subthreshold autism as a unique psychological/behavioral model for research that could help to understand the neurodevelopmental trajectories leading from autistic traits to a broad range of mental disorders.

Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder.

Science.gov (United States)

Freitag, Christine M; Agelopoulos, Konstantin; Huy, Ellen; Rothermundt, Matthias; Krakowitzky, Petra; Meyer, Jobst; Deckert, Jürgen; von Gontard, Alexander; Hohoff, Christa

2010-01-01

Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A(2A) receptor gene (ADORA2A) is associated with panic disorder and is located on chromosome 22q11.23. Its gene product, the adenosine A(2A) receptor, is strongly expressed in the caudate nucleus, which also is involved in ASD. As autistic symptoms are increased in individuals with 22q11.2 deletion syndrome, and large 22q11.2 deletions and duplications have been observed in ASD individuals, in this study, 98 individuals with ASD and 234 control individuals were genotyped for eight single-nucleotide polymorphisms in ADORA2A. Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474. In addition, association of ADORA2A variants with anxiety was replicated for individuals with ASD. Findings point toward a possible mediating role of ADORA2A variants on phenotypic expression in ASD that need to be replicated in a larger sample.

The Role of the Broader Autism Phenotype and Environmental Stressors in the Adjustment of Siblings of Children with Autism Spectrum Disorders in Taiwan and the United Kingdom

Science.gov (United States)

Tsai, Hsiao-Wei Joy; Cebula, Katie; Fletcher-Watson, Sue

2017-01-01

The influence of the broader autism phenotype (BAP) on the adjustment of siblings of children with autism has previously been researched mainly in Western cultures. The present research evaluated a diathesis-stress model of sibling adjustment using a questionnaire study including 80 and 75 mother-typically developing sibling dyads in Taiwan and…

Race influences parent report of concerns about symptoms of autism spectrum disorder.

Science.gov (United States)

Donohue, Meghan Rose; Childs, Amber W; Richards, Megan; Robins, Diana L

2017-11-01

Racial differences in parent report of concerns about their child's development to healthcare providers may contribute to delayed autism spectrum disorder diagnoses in Black children. We tested the hypotheses that compared to White parents, Black parents of children with autism spectrum disorder would report fewer concerns about autism symptoms and would be more likely to report concerns about disruptive behaviors. A sample of 18- to 40-month-old toddlers ( N = 174) with autism spectrum disorder and their parent participated. After screening positive for autism spectrum disorder risk, but prior to a diagnostic evaluation, parents completed free-response questions soliciting concerns about their child's development. Parent responses were coded for the presence or the absence of 10 possible concerns, which were grouped into autism concerns (e.g. social and restricted and repetitive behavior concerns) or non-autism concerns (e.g. general developmental and disruptive behavior concerns). Compared to White parents, Black parents reported significantly fewer autism concerns and fewer social and restricted and repetitive behavior concerns. However, Black parents did not report significantly fewer non-autism concerns. Race did not influence parent report of disruptive behavior concerns. Lower reporting of autism concerns by Black parents may impact providers' abilities to identify children who need further screening or evaluation.

Recognition of emotional facial expressions and broad autism phenotype in parents of children diagnosed with autistic spectrum disorder.

Science.gov (United States)

Kadak, Muhammed Tayyib; Demirel, Omer Faruk; Yavuz, Mesut; Demir, Türkay

2014-07-01

Research findings debate about features of broad autism phenotype. In this study, we tested whether parents of children with autism have problems recognizing emotional facial expression and the contribution of such an impairment to the broad phenotype of autism. Seventy-two parents of children with autistic spectrum disorder and 38 parents of control group participated in the study. Broad autism features was measured with Autism Quotient (AQ). Recognition of Emotional Face Expression Test was assessed with the Emotion Recognition Test, consisting a set of photographs from Ekman & Friesen's. In a two-tailed analysis of variance of AQ, there was a significant difference for social skills (F(1, 106)=6.095; p<.05). Analyses of variance revealed significant difference in the recognition of happy, surprised and neutral expressions (F(1, 106)=4.068, p=.046; F(1, 106)=4.068, p=.046; F(1, 106)=6.064, p=.016). According to our findings, social impairment could be considered a characteristic feature of BAP. ASD parents had difficulty recognizing neutral expressions, suggesting that ASD parents may have impaired recognition of ambiguous expressions as do autistic children. Copyright © 2014 Elsevier Inc. All rights reserved.

Family function, Parenting Style and Broader Autism Phenotype as Predicting Factors of Psychological Adjustment in Typically Developing Siblings of Children with Autism Spectrum Disorders.

Directory of Open Access Journals (Sweden)

Mohammadreza Mohammadi

2014-06-01

Full Text Available Siblings of children with autism are at a greater risk of experiencing behavioral and social problems. Previous researches had focused on environmental variables such as family history of autism spectrum disorders (ASDs, behavior problems in the child with an ASD, parental mental health problems, stressful life events and "broader autism phenotype" (BAP, while variables like parenting style and family function that are shown to influence children's behavioral and psychosocial adjustment are overlooked. The aim of the present study was to reveal how parenting style and family function as well as BAP effect psychological adjustment of siblings of children with autism.The Participants included 65 parents who had one child with an Autism Spectrum Disorder and one typically developing child. Of the children with ASDs, 40 were boys and 25 were girls; and they were diagnosed with ASDs by a psychiatrist based on DSM-IV-TR criteria and Autism Diagnostic Interview-Revised (ADI-R. The Persian versions of the six scales were used to collect data from the families. Pearson's correlation test and regression analysis were used to determine which variables were related to the psychological adjustment of sibling of children with ASDs and which variables predicted it better.Significant relationships were found between Strengths and Difficulties Questionnaire (SDQ total difficulties, prosocial behaviors and ASDs symptoms severity, parenting styles and some aspects of family function. In addition, siblings who had more BAP characteristics had more behavior problems and less prosocial behavior. Behavioral problems increased and prosocial behavior decreased with permissive parenting style. Besides, both of authoritarian and authoritative parenting styles led to a decrease in behavioral problems and an increase in prosocial behaviors. Our findings revealed that some aspects of family function (affective responsiveness, roles, problem solving and behavior control were

Language and communication skills in preschool children with autism spectrum disorders: contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability.

Science.gov (United States)

Kjellmer, Liselotte; Hedvall, Åsa; Fernell, Elisabeth; Gillberg, Christopher; Norrelgen, Fritjof

2012-01-01

This study examined the contribution of cognitive function, severity of autism, and adaptive functioning to the variability in language and communication skills in 129 preschool children (aged 24-63 months) with autism spectrum disorder (ASD). Participants were selected from a representative research cohort of 208 preschool children on the basis of caregiver completion of the MacArthur-Bates Communicative Development Inventories (CDI). The children were classified into three cognitive groups: (a) Normal intelligence; (b) Developmental delay; and (c) Intellectual disability. Autism symptom severity was measured by the Autistic Behavior Checklist (ABC), and adaptive functioning by the Daily Living Skills (DLS) and Socialization (Soc) subscales from the Vineland Adaptive Behavior Scales. For each of five CDI variables (Phrases understood, Words understood, Words produced, Gestures and actions, and Language use), the contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability was examined. Cognition and age explained about half or more of the variance in the four verbal language CDI variables, but only about one fourth of the variance in the non-verbal communication variable Gestures and actions. Severity of autism symptoms and the two adaptive measures (DLS and Soc) each only accounted for a few percent more of the variance in the four CDI language variables; however, for Gestures and actions, an additional 11-21% of the variance was accounted for. In conclusion, for children with ASD, receptive and expressive language is mainly related to cognitive level, whereas non-verbal communication skills seem to also be related to severity of autism symptoms and adaptive functioning. Copyright © 2011 Elsevier Ltd. All rights reserved.

Phenotypes of sleep-disordered breathing symptoms to two years of age based on age of onset and duration of symptoms.

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Kamal, Muna; Tamana, Sukhpreet K; Smithson, Lisa; Ding, Linda; Lau, Amanda; Chikuma, Joyce; Mariasine, Jennifer; Lefebvre, Diana L; Subbarao, Padmaja; Becker, Allan B; Turvey, Stuart E; Sears, Malcolm R; Pei, Jacqueline; Mandhane, Piush J

2018-05-03

Childhood sleep-disordered breathing (SDB) symptoms may comprise multiple phenotypes depending on craniofacial anatomy, tonsil and adenoid growth, body habitus, and rhinitis symptoms. The primary objective of this study is to identify and characterize the different SDB phenotypes to two years of age. Data from 770 infants in the Edmonton sub-cohort of the Canadian Healthy Infant Longitudinal Study (CHILD) were analyzed to identify SDB phenotypes based on age of onset and duration of symptoms. Parents completed the 22-item sleep-related breathing disorder (SRBD) scale. Children with a SRBD ratio greater than 0.33 were considered positive for SDB at each quarterly assessment between three months and two years. The STATA Proc trajectory extension identified SDB phenotypes based on their age of onset and duration of symptoms and attributed the percentage chance of a participant being assigned to each phenotype. Multivariate linear regression identified factors associated with increased risk of being assigned to each SDB phenotype. Trajectory analysis identified four phenotypes: no SDB (65.7%), early-onset SDB (15.7%) with peak symptoms at nine months, late-onset SDB (14.2%) with peak symptoms at 18 months, and persistent SDB (5.3%) with symptoms from 3 to 24 months. Rhinitis was associated with all three SDB symptom trajectories (p sleep apnea syndrome (OSAS) was associated with persistent (p = 0.01) and late SDB (p < 0.001). Atopy (positive skin prick test at one year) was associated with persistent SDB (p = 0.04). Infants born prior to 36.5 weeks gestational age were more likely to present with late SDB (p = 0.03). Childhood SDB symptoms, rather than being a homogenous disorder, may comprise multiple overlapping phenotypes each with unique risk factors. Copyright © 2018 Elsevier B.V. All rights reserved.

New Interview and Observation Measures of the Broader Autism Phenotype : Description of Strategy and Reliability Findings for the Interview Measures

NARCIS (Netherlands)

Parr, Jeremy R.; De Jonge, Maretha V.; Wallace, Simon; Pickles, Andrew; Rutter, Michael L.; Le Couteur, Ann S.; van Engeland, Herman; Wittemeyer, Kerstin; Mcconachie, Helen; Roge, Bernadette; Mantoulan, Carine; Pedersen, Lennart; Isager, Torben; Poustka, Fritz; Bolte, Sven; Bolton, Patrick; Weisblatt, Emma; Green, Jonathan; Papanikolaou, Katerina; Baird, Gillian; Bailey, Anthony J.

2015-01-01

Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and

Symptoms of autism and schizophrenia spectrum disorders in clinically referred youth with oppositional defiant disorder.

Science.gov (United States)

Gadow, Kenneth D; Drabick, Deborah A G

2012-01-01

Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N=1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed DSM-IV-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or noncompliant symptom (NS) subtypes. Two different classification strategies were used: within-informant (source-specific) and between-informant (source-exclusive). For the source-specific strategy, youth were classified AIS, NS, or Control (C) according to mothers' and teachers' ratings separately. A second set of analyses focused on youth classified AIS according to mother or teacher report but not both (source-exclusive) versus both mother and teacher (cross-informant) AIS. Results indicated the mother-defined source-specific AIS groups generally evidenced the most severe ASD and SSD symptoms (AIS>NS>C), but this was more pronounced among younger youth. Teacher-defined source-specific ODD groups exhibited comparable levels of symptom severity (AIS, NS>C) with the exception of SSD (AIS>NS>C; younger youth). Source-exclusive AIS groups were clearly differentiated from each other, but there was little evidence of differential symptom severity in cross-informant versus source-exclusive AIS. These findings were largely dependent on the informant used to define the source-exclusive groups. AIS and NS groups differed in their associations with ASD and SSD symptoms. Informant discrepancy provides valuable information that can inform nosological and clinical concerns and has important implications for studies that use different strategies to configure clinical phenotypes. Copyright © 2012 Elsevier Ltd. All rights reserved.

Does sex influence the diagnostic evaluation of autism spectrum disorder in adults?

Science.gov (United States)

Wilson, C Ellie; Murphy, Clodagh M; McAlonan, Grainne; Robertson, Dene M; Spain, Debbie; Hayward, Hannah; Woodhouse, Emma; Deeley, P Quinton; Gillan, Nicola; Ohlsen, J Chris; Zinkstok, Janneke; Stoencheva, Vladimira; Faulkner, Jessica; Yildiran, Hatice; Bell, Vaughan; Hammond, Neil; Craig, Michael C; Murphy, Declan GM

2016-01-01

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered. PMID:26802113

The association between theory of mind, executive function, and the symptoms of autism spectrum disorder.

Science.gov (United States)

Jones, Catherine R G; Simonoff, Emily; Baird, Gillian; Pickles, Andrew; Marsden, Anita J S; Tregay, Jenifer; Happé, Francesca; Charman, Tony

2018-01-01

It has been strongly argued that atypical cognitive processes in autism spectrum disorder (ASD) contribute to the expression of behavioural symptoms. Comprehensive investigation of these claims has been limited by small and unrepresentative sample sizes and the absence of wide-ranging task batteries. The current study investigated the cognitive abilities of 100 adolescents with ASD (mean age = 15 years 6 months), using 10 tasks to measure the domains of theory of mind (ToM) and executive function (EF). We used structural equation modelling as a statistically robust way of exploring the associations between cognition and parent-reported measures of social communication and restricted and repetitive behaviours (RRBs). We found that ToM ability was associated with both social communication symptoms and RRBs. EF was a correlate of ToM but had no direct association with parent-reported symptom expression. Our data suggest that in adolescence ToM ability, but not EF, is directly related to autistic symptom expression. Autism Res 2018, 11: 95-109. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. The behaviours that are common to autism spectrum disorder (ASD) have been linked to differences in thinking ability. We assessed autistic adolescents and found that social communication difficulties and the presence of restricted and repetitive behaviours related to difficulties in understanding other peoples' minds (theory of mind). In contrast, these behaviours were not associated with the general thinking abilities involved in planning and executing tasks (executive function). © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Automatic and controlled processing and the Broad Autism Phenotype.

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Camodeca, Amy; Voelker, Sylvia

2016-01-30

Research related to verbal fluency in the Broad Autism Phenotype (BAP) is limited and dated, but generally suggests intact abilities in the context of weaknesses in other areas of executive function (Hughes et al., 1999; Wong et al., 2006; Delorme et al., 2007). Controlled processing, the generation of search strategies after initial, automated responses are exhausted (Spat, 2013), has yet to be investigated in the BAP, and may be evidenced in verbal fluency tasks. One hundred twenty-nine participants completed the Delis-Kaplan Executive Function System Verbal Fluency test (D-KEFS; Delis et al., 2001) and the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al., 2007). The BAP group (n=53) produced significantly fewer total words during the 2nd 15" interval compared to the Non-BAP (n=76) group. Partial correlations indicated similar relations between verbal fluency variables for each group. Regression analyses predicting 2nd 15" interval scores suggested differentiation between controlled and automatic processing skills in both groups. Results suggest adequate automatic processing, but slowed development of controlled processing strategies in the BAP, and provide evidence for similar underlying cognitive constructs for both groups. Controlled processing was predictive of Block Design score for Non-BAP participants, and was predictive of Pragmatic Language score on the BAPQ for BAP participants. These results are similar to past research related to strengths and weaknesses in the BAP, respectively, and suggest that controlled processing strategy use may be required in instances of weak lower-level skills. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Clinical and neural effects of six-week administration of oxytocin on core symptoms of autism.

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Watanabe, Takamitsu; Kuroda, Miho; Kuwabara, Hitoshi; Aoki, Yuta; Iwashiro, Norichika; Tatsunobu, Natsubori; Takao, Hidemasa; Nippashi, Yasumasa; Kawakubo, Yuki; Kunimatsu, Akira; Kasai, Kiyoto; Yamasue, Hidenori

2015-11-01

Autism spectrum disorder is a prevalent neurodevelopmental disorder with no established pharmacological treatment for its core symptoms. Although previous literature has shown that single-dose administration of oxytocin temporally mitigates autistic social behaviours in experimental settings, it remains in dispute whether such potentially beneficial responses in laboratories can result in clinically positive effects in daily life situations, which are measurable only in long-term observations of individuals with the developmental disorder undergoing continual oxytocin administration. Here, to address this issue, we performed an exploratory, randomized, double-blind, placebo-controlled, crossover trial including 20 high-functional adult males with autism spectrum disorder. Data obtained from 18 participants who completed the trial showed that 6-week intranasal administration of oxytocin significantly reduced autism core symptoms specific to social reciprocity, which was clinically evaluated by Autism Diagnostic Observation Scale (P = 0.034, PFDR intervention were not larger than those seen in our previous single-dose intervention. These findings not only provide the evidence for clinically beneficial effects of continual oxytocin administration on the core social symptoms of autism spectrum disorder with suggesting its underlying biological mechanisms, but also highlight the necessity to seek optimal regimens of continual oxytocin treatment in future studies. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Re-examining the cognitive phenotype in autism: a study with young Chinese children.

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Lam, Yan Grace

2013-12-01

Deficits consistently found in autism include an impaired "theory of mind", weak central coherence, and deficits in executive function. The current study examined whether this traditional cluster of symptoms existed in a group of Chinese-speaking children with autism. Sixteen high-functioning, non-retarded children with autism were matched to 16 typically developing (TD) children on gender, non-verbal IQ and age. Non-verbal IQ's of all participants were measured using the Raven Progressive Matrices. Each participant was tested individually on measures of "theory of mind", central coherence and executive function. Results indicated that most, but not all, participants with autism performed significantly poorer on two standard measures of first-order "theory of mind," although there was no significant difference on two other measures of that domain. As expected, they performed significantly worse on executive function tasks. However, the hypothesis of weak central coherence in autism was not substantiated. There was no evidence that these three cognitive impairments co-existed in individuals with autism. More likely, each of these deficits appears singly or in pair instead of forming a cluster. Copyright © 2013 Elsevier Ltd. All rights reserved.

Symptoms of Children with Autism Spectrum Disorder,a clinical sample

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Ali Alavi Shooshtari

2009-12-01

Full Text Available "n Objective: "n "nThe aim of this report was to study the gender role on autismsymptoms distribution and severity in a clinical sample from Iran. Then, the results were compared with the published study from the same community population sample, Iran. "nMethod: The subjects of this retrospective study were a convenient clinical sample of the referrals of children with pervasive developmental disorders. The diagnosis was made according to DSM-IV diagnostic criteria. "nResults: "nMost of the subjects were boys. Boys were referred for evaluation more frequently than girls. The sample included 61 children and adolescents aged 2.1 to 15 years; of whom, 49 had autism. The mean age of children with autism was 7.2(SD=3.2 years. The mean of age, the diagnosis and severity of the symptoms were not related to gender . "n "n "nConclusion: Usually, those with severe cases of autism refer to clinics for treatment. Therefore, the clinical sample of children with autism is just the tip of the iceberg and they may not be the actual representative of community sample of children with autism. Preventive programs should be more focused on the screening and referring of inflected girls for service utilization .

Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: evidence from Finnish and UK samples.

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Mandy, William; Charman, Tony; Puura, Kaija; Skuse, David

2014-01-01

The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.

A Meta-Analysis of Sensory Modulation Symptoms in Individuals with Autism Spectrum Disorders

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Ben-Sasson, Ayelet; Hen, Liat; Fluss, Ronen; Cermak, Sharon A.; Engel-Yeger, Batya; Gal, Eynat

2009-01-01

Sensory modulation symptoms are common in persons with autism spectrum disorders (ASD); however have a heterogeneous presentation. Results from 14 studies indicated a significant high difference between ASD and typical groups in the presence/frequency of sensory symptoms, with the greatest difference in under-responsivity, followed by…

Improvement of autism spectrum disorder symptoms in three children by using gastrin‐releasing peptide

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Michele Michelin Becker

2016-05-01

Conclusions: This study suggests that the gastrin‐releasing peptide is safe and may be effective in improving key symptoms of autism spectrum disorder, but its results should be interpreted with caution. Controlled clinical trials–randomized, double‐blinded, and with more children–are needed to better evaluate the possible therapeutic effects of gastrin‐releasing peptide in autism.

Depression and Anxiety Symptoms in Children and Adolescents with Autism Spectrum Disorders without Intellectual Disability

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Strang, John F.; Kenworthy, Lauren; Daniolos, Peter; Case, Laura; Wills, Meagan C.; Martin, Alex; Wallace, Gregory L.

2012-01-01

Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD symptoms. In this study which examined correlates of depression and anxiety symptoms in the full…

Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data-driven method.

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Bora, Emre; Aydın, Aydan; Saraç, Tuğba; Kadak, Muhammed Tayyib; Köse, Sezen

2017-02-01

Clinical diagnosis of autism spectrum disorder (ASD) can be conceptualized as the extreme end of the distribution of subclinical autistic traits related to genetic susceptibility factors (broad autism phenotype (BAP)) in the general population. Subclinical autistic traits are significantly more common among unaffected first-degree relatives of probands with autism. However, there is a significant heterogeneity of autistic traits in family members of individuals with ASD and severity of autistic traits are not significantly different from controls in the majority of these relatives. The current study investigated the heterogeneity of autistic traits using latent class analysis (LCA) of the Autism Spectrum Quotient (AQ) ratings of 673 parents of children with ASD and 147 parents of typically developing children. Two distinct subgroups, including a "low-scoring" and a "high-scorer (BAP)" groups, were found. In comparison to control parents, a significantly larger proportion (21.1% vs. 7.5%) of parents of ASD were members of BAP group. Communication subscale made a distinctive contribution to the separation of high and low-scoring groups (d = 2.77). Further studies investigating neurobiological and genetic biomarkers and stability of these two subgroups over time are important for understanding the nature of autistic traits in the general population. Autism Res 2017, 10: 321-326. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Visual Symptoms in Adults with Autism Spectrum Disorders

OpenAIRE

DR Simmons; AE Robertson

2012-01-01

Autism Spectrum Disorders (ASDs) are common developmental disorders thought to affect more than 1% of the UK population (Baird et al, 2006, The Lancet 368, 210). Whilst the current official diagnostic criteria for ASD concentrate on signs and symptoms associated with social behaviour, it is also well known that sensory difficulties are a major factor in the presentation of this condition (Simmons et al, 2009, Vision Research 49, 2705). Over the past few years we have been investigating these ...

The association of quality of social relations, symptom severity and intelligence with anxiety in children with autism spectrum disorders.

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Eussen, Mart L J M; Van Gool, Arthur R; Verheij, Fop; De Nijs, Pieter F A; Verhulst, Frank C; Greaves-Lord, Kirstin

2013-11-01

Limited quality of social relations, milder symptom severity and higher intelligence were shown to account for higher anxiety levels in autism spectrum disorders. The current study replicated and extended earlier findings by combining these three determinants of anxiety in autism spectrum disorders in one study. The sample consisted of 134 school-aged children with autism spectrum disorders, of whom 58 (43%) had a co-morbid anxiety disorder according to the Diagnostic Interview Schedule for Children-Parent version. In this sample, we tested associations between these determinants and anxiety univariately and multivariately to clarify the unique contribution of all determinants. Since we hypothesized that the association between limited quality of social relations and anxiety would be amplified by low symptom severity and/or high intelligence, we additionally tested for moderating effects. We found that higher anxiety levels were associated with a lower quality of social relations and lower symptom severity. In this mainly high-functioning sample, intelligence was not related to anxiety levels. No moderation effects were found. Since lower quality of social relations and lower symptom severity are associated with higher anxiety levels in children with autism spectrum disorders, therapeutic interventions aimed at reducing anxiety in autism spectrum disorders should pay attention to improving social relations, and presumably children with a lower symptom severity could benefit most from such interventions.

Autism spectrum symptoms in children with neurological disorders

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Ryland Hilde K

2012-11-01

Full Text Available Abstract Background The aims of the present study were to assess symptoms associated with an autism spectrum disorder (ASD in children with neurological disorders as reported by parents and teachers on the Autism Spectrum Screening Questionnaire (ASSQ, as well as the level of agreement between informants for each child. Methods The ASSQ was completed by parents and teachers of the 5781 children (11–13 years who participated in the second wave of the Bergen Child Study (BCS, an on-going longitudinal population-based study. Out of these children, 496 were reported to have a chronic illness, including 99 whom had a neurological disorder. The neurological disorder group included children both with and without intellectual disabilities. Results Children with neurological disorders obtained significantly higher parent and teacher reported ASSQ scores than did non-chronically ill children and those with other chronic illnesses (p Conclusions The ASSQ identifies a high rate of ASD symptoms in children with neurological disorders, and a large number of children screened in the positive range for ASD. Although a firm conclusion awaits further clinical studies, the present results suggest that health care professionals should be aware of potential ASD related problems in children with neurological disorders, and should consider inclusion of the ASSQ or similar screening instruments as part of their routine assessment of this group of children.

Autism: cause factors, early diagnosis and therapies.

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Bhat, Shreya; Acharya, U Rajendra; Adeli, Hojjat; Bairy, G Muralidhar; Adeli, Amir

2014-01-01

Autism spectrum disorder (ASD) is a complex neurobiological disorder characterized by neuropsychological and behavioral deficits. Cognitive impairment, lack of social skills, and stereotyped behavior are the major autistic symptoms, visible after a certain age. It is one of the fastest growing disabilities. Its current prevalence rate in the U.S. estimated by the Centers for Disease Control and Prevention is 1 in 68 births. The genetic and physiological structure of the brain is studied to determine the pathology of autism, but diagnosis of autism at an early age is challenging due to the existing phenotypic and etiological heterogeneity among ASD individuals. Volumetric and neuroimaging techniques are explored to elucidate the neuroanatomy of the ASD brain. Nuroanatomical, neurochemical, and neuroimaging biomarkers can help in the early diagnosis and treatment of ASD. This paper presents a review of the types of autism, etiologies, early detection, and treatment of ASD.

Facial identity recognition in the broader autism phenotype.

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C Ellie Wilson

Full Text Available BACKGROUND: The 'broader autism phenotype' (BAP refers to the mild expression of autistic-like traits in the relatives of individuals with autism spectrum disorder (ASD. Establishing the presence of ASD traits provides insight into which traits are heritable in ASD. Here, the ability to recognise facial identity was tested in 33 parents of ASD children. METHODOLOGY AND RESULTS: In experiment 1, parents of ASD children completed the Cambridge Face Memory Test (CFMT, and a questionnaire assessing the presence of autistic personality traits. The parents, particularly the fathers, were impaired on the CFMT, but there were no associations between face recognition ability and autistic personality traits. In experiment 2, parents and probands completed equivalent versions of a simple test of face matching. On this task, the parents were not impaired relative to typically developing controls, however the proband group was impaired. Crucially, the mothers' face matching scores correlated with the probands', even when performance on an equivalent test of matching non-face stimuli was controlled for. CONCLUSIONS AND SIGNIFICANCE: Components of face recognition ability are impaired in some relatives of ASD individuals. Results suggest that face recognition skills are heritable in ASD, and genetic and environmental factors accounting for the pattern of heritability are discussed. In general, results demonstrate the importance of assessing the skill level in the proband when investigating particular characteristics of the BAP.

A large de novo distal 16p11.2 deletion in a patient with normal intelligence: Evidence for a neuropsychological phenotype

NARCIS (Netherlands)

Egger, J.I.M.; Verhoeven, W.M.A.; Verbeeck, W.J.C.; Leeuw, N. de

2014-01-01

Objective: The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is often associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies and obesity. Usually, these phenotypes are related to a proximal 16p11.2

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

NARCIS (Netherlands)

Egger, J.I.; Verhoeven, W.M.A.; Verbeeck, W.J.C.; Leeuw, N. de

2014-01-01

The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

NARCIS (Netherlands)

J.I.M. Egger (Jos); W.M.A. Verhoeven (Wim); W. Verbeeck (Wim); N. de Leeuw (Nicole)

2014-01-01

textabstractThe 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2

[Early diagnosis of autism: Phenotype-endophenotype].

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Kotsopoulos, S

2015-01-01

Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the

Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype

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Geier DA

2016-07-01

Full Text Available David A Geier,1,2 Janet K Kern,1,3 Lisa K Sykes,2 Mark R Geier1,2 1Research Department, The Institute of Chronic Illnesses, Inc, 2Research Department, CoMeD, Inc, Silver Spring, MD, 3Research Department, CONEM US Autism Research Group, Allen, TX, USA 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.Results: Among the subjects examined, 80.3% had NGTRs and 19.7% had PGTRs, of which 6.9% had PDNMs. NGTR subjects were born more recently (the risk of PDNMs decreasing by 12% per more recent birth year and tended to have an increased male–female ratio compared to PDNM subjects. PDNM subjects had significantly increased mean parental age and paternal age at subject’s birth (the risk of a PDNM increasing by 7%–8% per year of parental or paternal age compared to NGTR subjects. PGTR and NGTR subjects showed significant improvements in speech/language/communication with increasing age. PGTR subjects showed significant improvements in sociability, a core feature of an ASD diagnosis, with increasing age, whereas NGTR subjects showed significant worsening in sociability with increasing age.Conclusion: This study helps to elucidate different phenotypic ASD subtypes and may even indicate the need for differential diagnostic classifications. Keywords: genotype, phenotype

Simulation modeling analysis of sequential relations among therapeutic alliance, symptoms, and adherence to child-centered play therapy between a child with autism spectrum disorder and two therapists.

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Goodman, Geoff; Chung, Hyewon; Fischel, Leah; Athey-Lloyd, Laura

2017-07-01

This study examined the sequential relations among three pertinent variables in child psychotherapy: therapeutic alliance (TA) (including ruptures and repairs), autism symptoms, and adherence to child-centered play therapy (CCPT) process. A 2-year CCPT of a 6-year-old Caucasian boy diagnosed with autism spectrum disorder was conducted weekly with two doctoral-student therapists, working consecutively for 1 year each, in a university-based community mental-health clinic. Sessions were video-recorded and coded using the Child Psychotherapy Process Q-Set (CPQ), a measure of the TA, and an autism symptom measure. Sequential relations among these variables were examined using simulation modeling analysis (SMA). In Therapist 1's treatment, unexpectedly, autism symptoms decreased three sessions after a rupture occurred in the therapeutic dyad. In Therapist 2's treatment, adherence to CCPT process increased 2 weeks after a repair occurred in the therapeutic dyad. The TA decreased 1 week after autism symptoms increased. Finally, adherence to CCPT process decreased 1 week after autism symptoms increased. The authors concluded that (1) sequential relations differ by therapist even though the child remains constant, (2) therapeutic ruptures can have an unexpected effect on autism symptoms, and (3) changes in autism symptoms can precede as well as follow changes in process variables.

The Neuroanatomy of the Autistic Phenotype

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Fahim, Cherine; Meguid, Nagwa A.; Nashaat, Neveen H.; Yoon, Uicheul; Mancini-Marie, Adham; Evans, Alan C.

2012-01-01

The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X…

Sensory Symptoms in Children with Autism Spectrum Disorder, Other Developmental Disorders and Typical Development: A Longitudinal Study

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McCormick, Carolyn; Hepburn, Susan; Young, Gregory S.; Rogers, Sally J.

2016-01-01

Sensory symptoms are prevalent in autism spectrum disorder but little is known about the early developmental patterns of these symptoms. This study examined the development of sensory symptoms and the relationship between sensory symptoms and adaptive functioning during early childhood. Three groups of children were followed across three time…

Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder

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Valsamma eEapen

2013-09-01

Full Text Available Autism Spectrum Disorder (ASD is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD.

The relationship of theory of mind and executive functions to symptom type and severity in children with autism.

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Joseph, Robert M; Tager-Flusberg, Helen

2004-01-01

Although neurocognitive impairments in theory of mind and in executive functions have both been hypothesized to play a causal role in autism, there has been little research investigating the explanatory power of these impairments with regard to autistic symptomatology. The present study examined the degree to which individual differences in theory of mind and executive functions could explain variations in the severity of autism symptoms. Participants included 31 verbal, school-aged children with autism who were administered a battery of tests assessing the understanding of mental states (knowledge and false belief) and executive control skills (working memory, combined working memory and inhibitory control, and planning) and who were behaviorally evaluated for autism severity in the three core symptom domains. Whereas theory of mind and executive control abilities explained the significant variance beyond that accounted for by language level in communication symptoms, neither explained the significant variance in reciprocal social interaction or repetitive behaviors symptoms. These findings are discussed in terms of a proposed distinction between higher level, cognitive-linguistic aspects of theory of mind and related executive control skills, and more fundamental social-perceptual processes involved in the apprehension of mental state information conveyed through eyes, faces, and voices, which may be more closely linked to autistic deficits in social reciprocity.

Autism spectrum symptoms in children with neurological disorders.

Science.gov (United States)

Ryland, Hilde K; Hysing, Mari; Posserud, Maj-Britt; Gillberg, Christopher; Lundervold, Astri J

2012-11-12

The aims of the present study were to assess symptoms associated with an autism spectrum disorder (ASD) in children with neurological disorders as reported by parents and teachers on the Autism Spectrum Screening Questionnaire (ASSQ), as well as the level of agreement between informants for each child. The ASSQ was completed by parents and teachers of the 5781 children (11-13 years) who participated in the second wave of the Bergen Child Study (BCS), an on-going longitudinal population-based study. Out of these children, 496 were reported to have a chronic illness, including 99 whom had a neurological disorder. The neurological disorder group included children both with and without intellectual disabilities. Children with neurological disorders obtained significantly higher parent and teacher reported ASSQ scores than did non-chronically ill children and those with other chronic illnesses (pchildren with neurological disorders was moderate to high for the total score and for three sub scores generated from a factor analysis, and low to moderate for single items. The ASSQ identifies a high rate of ASD symptoms in children with neurological disorders, and a large number of children screened in the positive range for ASD. Although a firm conclusion awaits further clinical studies, the present results suggest that health care professionals should be aware of potential ASD related problems in children with neurological disorders, and should consider inclusion of the ASSQ or similar screening instruments as part of their routine assessment of this group of children.

DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome

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Wheeler, Anne C.; Mussey, Joanna; Villagomez, Adrienne; Bishop, Ellen; Raspa, Melissa; Edwards, Anne; Bodfish, James; Bann, Carla; Bailey, Donald B.

2015-01-01

We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses.…

Overlap Between Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Searching for Distinctive/Common Clinical Features.

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Craig, Francesco; Lamanna, Anna Linda; Margari, Francesco; Matera, Emilia; Simone, Marta; Margari, Lucia

2015-06-01

Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Signs and Symptoms of Autism

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... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or ... Mitochondrial Disease FAQs Data & Statistics New Data on Autism Research & Tracking ADDM Community Report CADDRE SEED Frequently ...

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders

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Napoli, Eleonora; Russo, Serena; Casula, Laura; Alesi, Viola; Amendola, Filomena Alessandra; Angioni, Adriano; Novelli, Antonio; Valeri, Giovanni; Menghini, Deny; Vicari, Stefano

2018-01-01

Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29…

Broad autism phenotype features of Chinese parents with autistic children and their associations with severity of social impairment in probands.

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Shi, Li-Juan; Ou, Jian-Jun; Gong, Jing-Bo; Wang, Su-Hong; Zhou, Yuan-Yue; Zhu, Fu-Rong; Liu, Xu-Dong; Zhao, Jing-Ping; Luo, Xue-Rong

2015-07-23

Parents of children with autism have higher rates of broad autism phenotype (BAP) features than parents of typically developing children (TDC) in Western countries. This study was designed to examine the rate of BAP features in parents of children with autism and the relationship between parental BAP and the social impairment of their children in a Chinese sample. A total of 299 families with autistic children and 274 families with TDC participated in this study. Parents were assessed using the Broad Autism Phenotype Questionnaire (BAPQ), which includes self-report, informant-report, and best-estimate versions. Children were assessed using the Chinese version of the Social Responsiveness Scale (SRS). Parents of children with autism were significantly more likely to have BAP features than were parents of TDC; mothers and fathers in families with autistic children had various BAP features. The total scores of the informant and best-estimate BAPQ versions for fathers were significantly associated with their children's SRS total scores in the autism group, whereas the total scores of the three BAPQ versions for mothers were significantly associated with their children's SRS total scores in the TDC group. In the autism group, the total SRS scores of children with "BAP present" parents (informant and best-estimate) were higher than the total SRS scores of children with"BAP absent" parents. In the TDC group, the total SRS scores of children with "BAP present" parents were higher than the total SRS scores of children with"BAP absent" parents (best-estimate). Parents of autistic children were found to have higher rates of BAP than parents of TDC in a sample of Chinese parents. The BAP features of parents are associated with their children's social functioning in both autism families and TDC families, but the patterns of the associations are different.

The Structure of Autism Spectrum Disorder Symptoms in the General Population at 18 Months

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Beuker, Karin T.; Schjolberg, Synnve; Lie, Kari Kveim; Donders, Rogier; Lappenschaar, Martijn; Swinkels, Sophie H. N.; Buitelaar, Jan K.

2013-01-01

It is unclear whether symptoms of autism spectrum disorder (ASD) in young children in the population fit the three-factor structure of ASD as described in the DSM-IV, and cluster together in individual subjects. This study analysed questionnaire data on ASD symptoms filled in by mothers of 11,332 18-month-old children that was collected in the…

Characteristics associated with presence of depressive symptoms in adults with autism spectrum disorder.

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Sterling, Lindsey; Dawson, Geraldine; Estes, Annette; Greenson, Jessica

2008-07-01

Evidence suggests that individuals with autism spectrum disorders (ASD) often exhibit associated psychiatric symptoms, particularly related to depression. The current study investigated whether individual characteristics, specifically, severity of ASD symptoms, level of cognitive ability, and/or presence of other psychiatric disorders, are associated with occurrence of depressive symptoms in adults with ASD. Forty-six adults with ASD were administered a standardized psychiatric history interview. Twenty participants (43%) endorsed depressive symptoms. It was found that individuals with less social impairment, higher cognitive ability, and higher rates of other psychiatric symptoms, were more likely to report depressive symptoms. These characteristics may be vulnerability factors for the development of depression, and should be considered when screening and treating adults with ASD.

Overlap of autistic and schizotypal traits in adolescents with Autism Spectrum Disorders.

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Barneveld, Petra S; Pieterse, Jolijn; de Sonneville, Leo; van Rijn, Sophie; Lahuis, Bertine; van Engeland, Herman; Swaab, Hanna

2011-03-01

This study addresses the unraveling of the relationship between autism spectrum and schizophrenia spectrum traits in a population of adolescents with Autism Spectrum Disorders (ASD). Recent studies comparing isolated symptoms of both spectrum disorders as well as diagnostic criteria for each (DSM-IV-TR) suggest resemblances in the clinical phenotype. A group of 27 adolescents with ASD (11 to 18 years) and 30 typically developing adolescents, matched for age and gender, participated in this study. Within the ASD group 11 adolescents satisfied DSM-IV-TR criteria for schizotypal personality disorders. Autistic and schizotypal traits were identified by means of well validated questionnaires (Autism Questionnaire, AQ and Schizotypal Personality Questionnaire-Revised, SPQ). Significantly more schizotypal traits in adolescents with ASD were found than in typically developing controls. Besides high levels of negative symptoms, adolescents with ASD also displayed high levels of positive and disorganized symptoms. There appeared to be a relationship between the mean level of autistic symptoms and schizotypal traits, as well as specific associations between autistic symptoms and negative, disorganized and positive schizotypal symptoms within individuals. Schizotypal symptomatology in all sub dimensions that are reflected by the SPQ scores, was most prominently associated with attention switching problems of the autism symptoms from the AQ. These findings indicate that patients diagnosed with an ASD show schizophrenia spectrum traits in adolescence. Although other studies have provided empirical support for this overlap in diagnostic criteria between both spectrum disorders, the present findings add to the literature that behavioral overlap is not limited to negative schizotypal symptoms, but extends to disorganized and positive symptoms as well. Copyright © 2010 Elsevier B.V. All rights reserved.

Change in Autism Symptoms and Maladaptive Behaviors in Adolescence and Adulthood: The Role of Positive Family Processes

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Woodman, Ashley C.; Smith, Leann E.; Greenberg, Jan S.; Mailick, Marsha R.

2015-01-01

Little is known about outcomes for individuals with autism spectrum disorders (ASD) into adulthood. Several characteristics of individuals with ASD predict long-term outcomes, and the family environment may also play a role. The present study uses a prospective, longitudinal design to describe and predict trajectories of autism symptoms and…

Associations between cytokines, endocrine stress response, and gastrointestinal symptoms in autism spectrum disorder

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Ferguson, Bradley J.; Marler, Sarah; Altstein, Lily L.; Lee, Evon Batey; Mazurek, Micah O.; McLaughlin, Aaron; Macklin, Eric A.; McDonnell, Erin; Davis, Daniel J.; Belenchia, Anthony M.; Gillespie, Catherine H.; Peterson, Catherine A.; Bauman, Margaret L.; Margolis, Kara Gross; Veenstra-VanderWeele, Jeremy

2016-01-01

Many children and adolescents with autism spectrum disorder (ASD) have significant gastrointestinal (GI) symptoms, but the etiology is currently unknown. Some individuals with ASD show altered reactivity to stress and altered immune markers relative to typically-developing individuals, particularly stress-responsive cytokines including tumor necrosis factor alpha (TNF-?) and interleukin 6 (IL-6). Acute and chronic stress is associated with the onset and exacerbation of GI symptoms in those wi...

Psychiatric Symptoms in Children Diagnosed with an Autism Spectrum Disorder: An Examination of Gender Differences

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Worley, Julie A.; Matson, Johnny L.

2011-01-01

In addition to the triad of impairments experienced by children and adolescents diagnosed with Autism Spectrum Disorders (ASD), they often present with symptoms of psychiatric disorders. To date, very few studies have examined gender differences in regards to psychiatric symptoms in children and adolescents diagnosed with an ASD. Thus, the current…

Brain Volumetric Correlates of Autism Spectrum Disorder Symptoms in Attention Deficit/Hyperactivity Disorder

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O'Dwyer, Laurence; Tanner, Colby; van Dongen, Eelco V.; Greven, Corina U.; Braten, Janita; Zwiersl, Marcel P.; Franke, Barbara; Oosterlaan, Jaap; Heslenfeld, Dirk; Hoekstra, Pieter; Hartman, Catharina A.; Rommelse, Nanda; Buitelaar, Jan K.

2014-01-01

Autism spectrum disorder (ASD) symptoms frequently occur in subjects with attention deficit/hyperactivity disord (ADHD). While there is evidence that both ADHD and ASD have differential structural correlates, no study to date has nvestigated these structural correlates within a framework that

Brief Report: Impact of Child Problem Behaviors and Parental Broad Autism Phenotype Traits on Substance Use among Parents of Children with ASD

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Wade, Jordan L.; Cox, Neill Broderick; Reeve, Ronald E.; Hull, Michael

2014-01-01

Using data from the Simons Simplex Collection, the present study examined the impact of child externalizing behavior and parental broad autism phenotype traits on substance use among parents of children with autism spectrum disorder (n = 2,388). For both fathers and mothers, child externalizing behaviors predicted tobacco use (OR = 1.01 and OR =…

Multi-informant reports of psychiatric symptoms among high-functioning adolescents with Asperger syndrome or autism.

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Hurtig, Tuula; Kuusikko, Sanna; Mattila, Marja-Leena; Haapsamo, Helena; Ebeling, Hanna; Jussila, Katja; Joskitt, Leena; Pauls, David; Moilanen, Irma

2009-11-01

The aim of the study was to examine psychiatric symptoms in high-functioning adolescents with autism spectrum disorders reported by multiple informants. Forty-three 11- to 17-year-old adolescents with Asperger syndrome (AS) or high-functioning autism (HFA) and 217 typically developed adolescents completed the Youth Self-Report (YSR), while their parents completed the Child Behavior Checklist (CBCL). Teachers of adolescents with AS/HFA completed the Teacher Report Form (TRF). The informants reported significantly more psychiatric symptoms, especially withdrawn, anxious/depressed, social and attention problems, in adolescents with AS/HFA than in controls. In contrast to findings in the general population, the psychiatric problems of adolescents with AS/HFA are well acknowledged by multiple informants, including self-reports. However, anxiety and depressive symptoms were more commonly reported by adolescents with AS/HFA and their teachers than their parents, indicating that some emotional distress may be hidden from their parents.

Network Based Integrated Analysis of Phenotype-Genotype Data for Prioritization of Candidate Symptom Genes

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Xing Li

2014-01-01

Full Text Available Background. Symptoms and signs (symptoms in brief are the essential clinical manifestations for individualized diagnosis and treatment in traditional Chinese medicine (TCM. To gain insights into the molecular mechanism of symptoms, we develop a computational approach to identify the candidate genes of symptoms. Methods. This paper presents a network-based approach for the integrated analysis of multiple phenotype-genotype data sources and the prediction of the prioritizing genes for the associated symptoms. The method first calculates the similarities between symptoms and diseases based on the symptom-disease relationships retrieved from the PubMed bibliographic database. Then the disease-gene associations and protein-protein interactions are utilized to construct a phenotype-genotype network. The PRINCE algorithm is finally used to rank the potential genes for the associated symptoms. Results. The proposed method gets reliable gene rank list with AUC (area under curve 0.616 in classification. Some novel genes like CALCA, ESR1, and MTHFR were predicted to be associated with headache symptoms, which are not recorded in the benchmark data set, but have been reported in recent published literatures. Conclusions. Our study demonstrated that by integrating phenotype-genotype relationships into a complex network framework it provides an effective approach to identify candidate genes of symptoms.

Does Autism Diagnosis Age or Symptom Severity Differ among Children According to Whether Assisted Reproductive Technology Was Used to Achieve Pregnancy?

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Schieve, Laura A.; Fountain, Christine; Boulet, Sheree L.; Yeargin-Allsopp, Marshalyn; Kissin, Dmitry M.; Jamieson, Denise J.; Rice, Catherine; Bearman, Peter

2015-01-01

Previous studies report associations between conception with assisted reproductive technology (ART) and autism. Whether these associations reflect an ascertainment or biologic effect is undetermined. We assessed diagnosis age and initial autism symptom severity among >30,000 children with autism from a linkage study of California Department of…

Brief Report: Whole Blood Serotonin Levels and Gastrointestinal Symptoms in Autism Spectrum Disorder

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Marler, Sarah; Ferguson, Bradley J.; Lee, Evon Batey; Peters, Brittany; Williams, Kent C.; McDonnell, Erin; Macklin, Eric A.; Levitt, Pat; Gillespie, Catherine Hagan; Anderson, George M.; Margolis, Kara Gross; Beversdorf, David Q.; Veenstra-VanderWeele, Jeremy

2016-01-01

Elevated whole blood serotonin levels are observed in more than 25 % of children with autism spectrum disorder (ASD). Co-occurring gastrointestinal (GI) symptoms are also common in ASD but have not previously been examined in relationship with hyperserotonemia, despite the synthesis of serotonin in the gut. In 82 children and adolescents with ASD, we observed a correlation between a quantitative measure of lower GI symptoms and whole blood serotonin levels. No significant association was seen...

Differential Relationships of Anxiety and Autism Symptoms on Social Skills in Young Boys With Fragile X Syndrome.

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Reisinger, Debra L; Roberts, Jane E

2017-09-01

Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms, and anxiety symptoms to social skills at the composite and subdomain level in boys with FXS across age. This cross-sectional study included boys with FXS (3-14 years) contrasted to age-matched typical control boys. Results revealed that social skills are generally within developmental expectations, with adaptive behavior as the primary predictor. Anxiety and autism symptoms emerged as additive risk factors, particularly in the areas of responsibility and self-control.

Adult Autism Subthreshold Spectrum (AdAS Spectrum) in parents of pediatric patients with epilepsy: Correlations with post-traumatic stress symptoms.

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Dell'Osso, L; Corsi, M; Gesi, C; Bertelloni, C A; Massimetti, G; Peroni, D; Bonuccelli, A; Orsini, A; Carmassi, C

2018-05-01

Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one's child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample. Results revealed noteworthy correlations between post-traumatic stress symptoms and adult autism subthreshold spectrum (AdAS Spectrum) only in the subgroup of the fathers. In particular, were evidenced correlations between AdAS Spectrum domain of rumination and narrow interests and some TALS-SR nuclear domains: reaction to traumatic events, reexperiencing and arousal. These findings corroborate the hypothesis that subthreshold autistic features may influence the possible psychopathological reaction to trauma. Copyright © 2018 Elsevier Inc. All rights reserved.

Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient

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Woodbury-Smith Marc

2008-02-01

Full Text Available Abstract Background Autism Spectrum Conditions (ASCs are characterized by a high degree of clinical heterogeneity, but the extent to which this variation represents a severity gradient versus discrete phenotypes is unclear. This issue has complicated genetic studies seeking to investigate the genetic basis of the high hereditability observed clinically in those with an ASC. The aim of this study was to examine the possible clustering of symptoms associated with ASCs to determine whether the observed distribution of symptom type and severity supported either a severity or a symptom subgroup model to account for the phenotypic variation observed within the ASCs. Methods We investigated the responses of a group of adults with higher functioning ASCs on the fifty clinical features examined in the Autism Spectrum Quotient, a screening questionnaire used in the diagnosis of higher functioning ASCs. In contrast to previous studies we have used this instrument with no a priori assumptions about any underlying factor structure of constituent items. The responses obtained were analyzed using complete linkage hierarchical cluster analysis. For the members of each cluster identified the mean score on each Autism Spectrum Quotient question was calculated. Results Autism Spectrum Quotient responses from a total of 333 individuals between the ages of 16.6 and 78.0 years were entered into the hierarchical cluster analysis. The four cluster solution was the one that generated the largest number of clusters that did not also include very small cluster sizes, defined as a membership comprising 10 individuals or fewer. Examination of these clusters demonstrated that they varied in total Autism Spectrum Quotient but that the profiles across the symptoms comprising the Autism Spectrum Quotient did not differ independently of this severity factor. Conclusion These results are consistent with a unitary spectrum model, suggesting that the clinical heterogeneity observed

Principal genetic syndromes and autism: from phenotypes, proteins to genes%孤独性障碍及其相关的主要遗传综合征:从表型、蛋白到基因

Institute of Scientific and Technical Information of China (English)

侯萌; 王曼捷; Nanbert ZHONG

2006-01-01

Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.

Autism spectrum disorder symptoms in juvenile suspects of sex offenses.

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't Hart-Kerkhoffs, Lisette A; Jansen, Lucres M; Doreleijers, Theo A; Vermeiren, Robert; Minderaa, Ruud B; Hartman, Catharina A

2009-02-01

To investigate autism spectrum disorder (ASD) symptoms in juvenile suspects of sex offenses. A group of 175 juvenile suspected sex offenders (all males, mean +/- SD age = 14.9 +/- 1.4 years) was compared with a matched healthy control group (N = 500, mean +/- SD age = 14.0 +/- 1.4 years) and a group of children with DSM-IV-diagnosed ASD (N = 114, mean +/- SD age = 14.2 +/- 1.9 years) with respect to autistic symptoms as measured by means of a standardized questionnaire, the Children's Social Behavior Questionnaire. Furthermore, specific subgroups of sexual offenders, i.e., child molesters, solo peer offenders, and group offenders, were compared with regard to levels of ASD symptoms. The study was conducted from May 2003 to December 2006. Significantly higher levels of ASD symptoms were found in juvenile sex offenders than in healthy controls, while levels were lower than in the ASD group (F = 148.259, p symptoms than group offenders (F = 5.127, p symptoms are higher in juvenile suspects of sex offenses as compared to the healthy population, which argues for considering specific diagnostic assessment in this population, especially in solo offenders and child molesters. Copyright 2009 Physicians Postgraduate Press, Inc.

Longitudinal study of symptom severity and language in minimally verbal children with autism.

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Thurm, Audrey; Manwaring, Stacy S; Swineford, Lauren; Farmer, Cristan

2015-01-01

A significant minority of children with autism spectrum disorder (ASD) are considered 'minimally verbal' due to language development stagnating at a few words. Recent developments allow for the severity of ASD symptoms to be examined using Autism Diagnostic Observation Schedule (ADOS) Social Affect (SA) and Restricted and Repetitive Behaviors (RRB) domain severity scores. The aim of the current study was to explore language outcomes in a cohort of minimally verbal children with autism evaluated through the preschool years and determine if and how ASD symptom severity in core domains predicts the development of spoken language by age 5. The sample consisted of 70 children with autism aged 1-5 years at the first evaluation who were examined at least 1 year later, during their fifth year of age. The ADOS overall level of language item was used to categorize children as minimally verbal or having phrase speech, and the Mullen Scales of Early Learning was used as a continuous measure of expressive language. At Time 1, 65% (n = 47) of children in the sample were minimally verbal and by Time 2, 36% (n = 17 of 47) of them had developed phrase speech. While the Time 1 ADOS calibrated severity scores did not predict whether or not a child remained minimally verbal at Time 2, change in the SA calibrated severity score (but not RRB) was predictive of the continuous measure of expressive language. However, change in SA severity no longer predicted continuous expressive language when nonverbal cognitive ability was added to the model. Findings indicate that the severity of SA symptoms has some relationship with continuous language outcome, but not categorical. However, the omnipresent influence of nonverbal cognitive ability was confirmed in the current study, as the addition of it to the model rendered null the predictive utility of SA severity. © 2014 The Authors. Journal of Child Psychology and Psychiatry. © 2014 Association for Child and Adolescent Mental Health.

Pharmacologic treatment for the core deficits and associated symptoms of autism in children.

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West, Lis; Waldrop, Julee; Brunssen, Susan

2009-01-01

Autism is a neurodevelopmental condition affecting 1 out of 160 children in the United States today. Only risperidone has Food and Drug Administration approval for the pharmacologic management of autism in children. However, health care providers may prescribe other drugs used off-label to assist autistic children and their families with the core deficits and associated behaviors of this condition. Evidence for the use of these medications will be discussed in this continuing education offering. Meta analyses, randomized clinical trials, and other prospective experimental studies of pharmacotherapy conducted in the United States in the past 10 years in children between the ages of 5 and 15 years were reviewed. The results support moderate success in treating the associated behaviors of autism and minimal success in treating core deficits across all drug classes. Preliminary evidence demonstrates possible uses for atypical antipsychotic agents, selective-serotonin reuptake inhibitors, stimulants, and N-methyl-D-aspirate receptor antagonists in decreasing the core behaviors and associated symptoms of autism. More studies and longer periods of follow-up are needed before definitive guidelines can be suggested.

Autism and Related Disorders

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McPartland, James; Volkmar, Fred R.

2012-01-01

The Pervasive Developmental Disorders are a group of neurodevelopmental disorders that include Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder (CDD), and Rett’s Disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (Autistic Disorder, Asperger’s Disorder, and PDD-NOS) are currently referred to as Autism Spectrum Disorders, reflecting divergent phenotypic and etiologic characteristics compared to Rett’s Disorder and CDD. This chapter reviews relevant research and clinical information relevant to appropriate medical diagnosis and treatment. PMID:22608634

Self-Reported Autism Spectrum Disorder Symptoms Among Adults Referred to a Gender Identity Clinic.

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Vermaat, Lieke E W; van der Miesen, Anna I R; de Vries, Annelou L C; Steensma, Thomas D; Popma, Arne; Cohen-Kettenis, Peggy T; Kreukels, Baudewijntje P C

The purpose of this study was to (1) investigate autism spectrum disorder (ASD) symptoms in a sample of adults referred for gender dysphoria (GD) compared to typically developing (TD) populations, (2) see whether males assigned at birth with GD (MaB GD s) and females assigned at birth with GD (FaB GD s) differ in ASD symptom levels, (3) study the role of sexual orientation, and (4) investigate ASD symptoms' correlation with GD symptoms. The Autism-Spectrum Quotient (AQ) was used to measure ASD symptoms, and the Utrecht Gender Dysphoria Scale (UGDS) was used to measure the intensity of GD. Mean AQ scores of adults referred for GD (n = 326; 191 MaB GD and 135 FaB GD ) were compared to three TD populations taken from the literature (n = 1316; 667 male and 644 female, 5 birth-assigned sex unknown). The mean AQ score in individuals referred for GD was similar to the TD samples. FaB GD s showed higher mean AQ scores than MaB GD s, and they had mean scores similar to TD individuals of the same experienced gender (TD males). After selecting individuals with an UGDS score indicative of GD, a positive association between ASD and GD symptoms was found. The co-occurrence of GD and ASD in adults may not be as prevalent as previously suggested. Attenuation of sex differences in ASD might explain FaB GD s' and MaB GD s' ASD symptoms' similarity to those of TD individuals of the same experienced gender. Intensity of ASD symptoms might be correlated with intensity of GD symptoms, warranting further studies to elaborate on their potential co-occurrence.

Attention deficit hyperactivity disorder symptoms in adults with autism spectrum disorders.

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Johnston, Kate; Dittner, Antonia; Bramham, Jessica; Murphy, Clodagh; Knight, Anya; Russell, Ailsa

2013-08-01

Features of attention deficit hyperactivity disorder (ADHD) and impairments on neuropsychological, tests of attention have been documented in children with autism spectrum disorders (ASDs). To date, there has been a lack of research comparing attention in adults with ASD and adults with ADHD. In study 1, 31 adults with ASD and average intellectual function completed self-report measures of ADHD symptoms. These were compared with self-report measures of ADHD symptoms in 38 adults with ADHD and 29 general population controls. In study 2, 28 adults with a diagnosis of ASD were compared with an age- and intelligence quotient-matched sample of 28 adults with ADHD across a range of measures of attention. Study 1 showed that 36.7% of adults with ASD met Diagnostic and Statistical Manual-IV criteria for current ADHD "caseness" (Barkley Current self-report scores questionnaire). Those with a diagnosis of pervasive developmental disorder-not otherwise specified were most likely to describe ADHD symptoms. The ASD group differed significantly from both the ADHD and control groups on total and individual symptom self-report scores. On neuropsychological testing, adults with ASD and ADHD showed comparable performance on tests of selective attention. Significant group differences were seen on measures of attentional switching; adults with ADHD were significantly faster and more inaccurate, and individuals with Asperger's syndrome showed a significantly slower and more accurate response style. Self-reported rates of ADHD among adults with ASD are significantly higher than in the general adult population and may be underdiagnosed. Adults with ASD have attentional difficulties on some neuropsychological measures. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

The association between symptoms of autism and neuropsychological performance in females with Anorexia Nervosa.

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Westwood, Heather; Mandy, William; Tchanturia, Kate

2017-12-01

The aim of this study was to investigate the relationship between symptoms of autism spectrum disorder (ASD) and performance on measures of set-shifting and central coherence in a sample of females with anorexia nervosa (AN). Ninety-nine females aged 12-47, recruited from inpatient and day patient eating disorder services, were assessed with the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), as well as the Wechsler Abbreviated Scale of Intelligence, 2nd edition (WASI-II); Wisconsin Card Sorting Test (WCST); Rey-Osterrieth Complex Figure Test (ROCFT) and self-report questionnaires assessing eating disorder pathology, depression, cognitive rigidity and attention to detail. Individuals scoring above clinical cut-off on the ADOS-2 (N = 35) reported significantly higher levels of cognitive rigidity than those with lower levels of ASD symptoms but there was no difference between groups on self-reported attention to detail. There group with high levels of ASD symptoms also made significantly more perseverative errors on the WCST but there was no association between ASD symptoms and performance on the ROCFT. The group who scored above cut-off on the ADOS-2 were significantly younger than the sub-clinical groups. The presence of symptoms associated with ASD appears to be related to increased cognitive rigidity in females with AN. Copyright © 2017. Published by Elsevier B.V.

School-age outcomes of infants at risk for autism spectrum disorder.

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Miller, Meghan; Iosif, Ana-Maria; Young, Gregory S; Hill, Monique; Phelps Hanzel, Elise; Hutman, Ted; Johnson, Scott; Ozonoff, Sally

2016-06-01

Studies of infants at risk for autism spectrum disorder (ASD) have proliferated, but few of these samples have been followed longer-term. We conducted a follow-up study, at age 5.5-9 years, of younger siblings of children with ASD (high-risk group, n = 79) or typical development (low-risk group, n = 60), originally recruited as infants. Children with ASD were excluded because of the focus on understanding the range of non-ASD outcomes among high-risk siblings. Using examiner ratings, parent ratings, and standardized assessments, we evaluated differences in clinical outcomes, psychopathology symptoms, autism symptoms, language skills, and nonverbal cognitive abilities. After adjusting for covariates, the high-risk group had increased odds of any clinically elevated/impaired score across measures relative to the low-risk group (43% vs. 12%, respectively). The high-risk group also had increased odds of examiner-rated Clinical Concerns (CC) outcomes (e.g., ADHD concerns, broader autism phenotype, speech-language difficulties, anxiety/mood problems, learning problems) relative to the low-risk group (38% vs. 13%, respectively). The high-risk group with CC outcomes had higher parent-reported psychopathology and autism symptoms, and lower directly-assessed language skills, than the Low-Risk Typically Developing (TD) and High-Risk TD groups, which did not differ. There were no differences in nonverbal cognitive skills. For some in the high-risk group, clinical concerns persisted from early childhood, whereas for others clinical concerns were first evident at school-age. Results suggest continued vulnerability in at least a subgroup of school-age children with a family history of ASD and suggest that this population may benefit from continued screening and monitoring into the school-age years. Autism Res 2016, 9: 632-642. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals

Ubiquinol Improves Symptoms in Children with Autism

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Gvozdjakova, Anna; Kucharska, Jarmila; Ostatnikova, Daniela; Babinska, Katarina; Nakladal, Dalibor; Crane, Fred L.

2014-01-01

Background. Autism is a spectrum of neurodevelopmental disorders with manifestation within 3 years after birth. Manifestations of autism include behavior problems (hyperactivity, toys destruction, self-harm, and agression) and sleep and eating disorders. Etiology of autism is poorly understood.

Impact of Cognitive Behavioral Therapy on Observed Autism Symptom Severity during School Recess: A Preliminary Randomized, Controlled Trial

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Wood, Jeffrey J.; Fujii, Cori; Renno, Patricia; Van Dyke, Marilyn

2014-01-01

This study compared cognitive behavioral therapy (CBT) and treatment-as-usual (TAU) in terms of effects on observed social communication-related autism symptom severity during unstructured play time at school for children with autism spectrum disorders (ASD). Thirteen children with ASD (7-11 years old) were randomly assigned to 32 sessions of CBT…

“We Dance and Find Each Other”1: Effects of Dance/Movement Therapy on Negative Symptoms in Autism Spectrum Disorder

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Malin K. Hildebrandt

2016-11-01

Full Text Available The treatment of deficits in social interaction, a shared symptom cluster in persons with schizophrenia (negative symptoms and autism spectrum disorder (DSM-5 A-criterion, has so far remained widely unsuccessful in common approaches of psychotherapy. The alternative approach of embodiment brings to focus body-oriented intervention methods based on a theoretic framework that explains the disorders on a more basic level than common theory of mind approaches. The randomized controlled trial at hand investigated the effects of a 10-week manualized dance and movement therapy intervention on negative symptoms in participants with autism spectrum disorder. Although the observed effects failed to reach significance at the conventional 0.05 threshold, possibly due to an undersized sample, an encouraging trend towards stronger symptom reduction in the treatment group for overall negative symptoms and for almost all subtypes was found at the 0.10-level. Effect sizes were small but clinically meaningful, and the resulting patterns were in accordance with theoretical expectations. The study at hand contributes to finding an effective treatment approach for autism spectrum disorder in accordance with the notion of embodiment.

Self-referenced memory, social cognition, and symptom presentation in autism.

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Henderson, Heather A; Zahka, Nicole E; Kojkowski, Nicole M; Inge, Anne P; Schwartz, Caley B; Hileman, Camilla M; Coman, Drew C; Mundy, Peter C

2009-07-01

We examined performance on a self-referenced memory (SRM) task for higher-functioning children with autism (HFA) and a matched comparison group. SRM performance was examined in relation to symptom severity and social cognitive tests of mentalizing. Sixty-two children (31 HFA, 31 comparison; 8-16 years) completed a SRM task in which they read a list of words and decided whether the word described something about them, something about Harry Potter, or contained a certain number of letters. They then identified words that were familiar from a longer list. Dependent measures were memory performance (d') in each of the three encoding conditions as well as a self-memory bias score (d' self-d' other). Children completed The Strange Stories Task and The Children's Eyes Test as measures of social cognition. Parents completed the SCQ and ASSQ as measures of symptom severity. Children in the comparison sample showed the standard SRM effect in which they recognized significantly more self-referenced words relative to words in the other-referenced and letter conditions. In contrast, HFA children showed comparable rates of recognition for self- and other-referenced words. For all children, SRM performance improved with age and enhanced SRM performance was related to lower levels of social problems. These associations were not accounted for by performance on the mentalizing tasks. Children with HFA did not show the standard enhanced processing of self- vs. other-relevant information. Individual differences in the tendency to preferentially process self-relevant information may be associated with social cognitive processes that serve to modify the expression of social symptoms in children with autism.

Effect of Developmental Quotient on Symptoms of Inattention and Impulsivity among Toddlers with Autism Spectrum Disorders

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Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.

2010-01-01

The effect of developmental quotient on symptoms of inattention and impulsivity was examined among 198 toddlers with Autism Spectrum Disorders. There were two levels of developmental quotient: (1) low (less than or equal to 70; n = 80), and (2) typical (greater than 70; n = 118). Symptoms of inattention and impulsivity were assessed using 14 items…

Association of Schizophrenia Spectrum and Autism Spectrum Disorder (ASD) Symptoms in Children with ASD and Clinic Controls

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Gadow, Kenneth D.

2013-01-01

Objective: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N = 147) and child psychiatry outpatient referrals (Controls; N = 339). Method: Participants were subdivided into four…

The Association of Quality of Social Relations, Symptom Severity and Intelligence with Anxiety in Children with Autism Spectrum Disorders

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Eussen, Mart L. J. M.; Van Gool, Arthur R.; Verheij, Fop; De Nijs, Pieter F. A.; Verhulst, Frank C.; Greaves-Lord, Kirstin

2013-01-01

Limited quality of social relations, milder symptom severity and higher intelligence were shown to account for higher anxiety levels in autism spectrum disorders. The current study replicated and extended earlier findings by combining these three determinants of anxiety in autism spectrum disorders in one study. The sample consisted of 134…

Brief Report: Social Skills, Internalizing and Externalizing Symptoms, and Respiratory Sinus Arrhythmia in Autism

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Neuhaus, Emily; Bernier, Raphael; Beauchaine, Theodore P.

2014-01-01

Theoretical and empirical models describe respiratory sinus arrhythmia (RSA) as a peripheral biomarker of emotion regulation and social competence. Recent findings also link RSA to individual differences in social functioning within autism spectrum disorder (ASD). However, associations between RSA and symptoms of internalizing/externalizing…

Often Asked but Rarely Answered: Can Asians Meet DSM-5/ICD-10 Autism Spectrum Disorder Criteria?

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Kim, So Hyun; Koh, Yun-Joo; Lim, Eun-Chung; Kim, Soo-Jeong; Leventhal, Bennett L.

2016-01-01

Abstract Objectives: To evaluate whether Asian (Korean children) populations can be validly diagnosed with autism spectrum disorder (ASD) using Western-based diagnostic instruments and criteria based on Diagnostic and Statistical Manual on Mental Disorders, 5th edition (DSM-5). Methods: Participants included an epidemiologically ascertained 7–14-year-old (N = 292) South Korean cohort from a larger prevalence study (N = 55,266). Main outcomes were based on Western-based diagnostic methods for Korean children using gold standard instruments, Autism Diagnostic Interview-Revised, and Autism Diagnostic Observation Schedule. Factor analysis and ANOVAs were performed to examine factor structure of autism symptoms and identify phenotypic differences between Korean children with ASD and non-ASD diagnoses. Results: Using Western-based diagnostic methods, Korean children with ASD were successfully identified with moderate-to-high diagnostic validity (sensitivities/specificities ranging 64%–93%), strong internal consistency, and convergent/concurrent validity. The patterns of autism phenotypes in a Korean population were similar to those observed in a Western population with two symptom domains (social communication and restricted and repetitive behavior factors). Statistically significant differences in the use of socially acceptable communicative behaviors (e.g., direct gaze, range of facial expressions) emerged between ASD versus non-ASD cases (mostly p Korean children) typically use elements of reciprocal social interactions similar to those in the West. Therefore, standardized diagnostic methods widely used for ASD in Western culture can be validly used as part of the assessment process and research with Koreans and, possibly, other Asians. PMID:27315155

Overall severities of gastrointestinal symptoms in pediatric outpatients with and without autism spectrum disorder.

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Thulasi, Venkatraman; Steer, Robert A; Monteiro, Iona M; Ming, Xue

2018-03-01

In order to determine the effectiveness of a Gastrointestinal Severity Index to screen for gastrointestinal disorders, the Gastrointestinal Severity Index was administered to 135 children with autism spectrum disorders and 146 comparisons with and without gastrointestinal disorders. The mean Gastrointestinal Severity Index scores of the groups were 3.53 ± 1.78, 3.15 ± 1.99, 0.81 ± 1.25, and 0.29 ± 0.76 (comparative pediatric patients with gastrointestinal disorder = autism spectrum disorder + gastrointestinal disorder > autism spectrum disorder-gastrointestinal disorder > comparative pediatric patients without gastrointestinal disorder, respectively), Ps disorders. The area under the receiver operating characteristic curve (0.97) for the comparison group was higher (P autism spectrum disorder children indicating that the Gastrointestinal Severity Index was more effective in screening for gastrointestinal disorders in comparisons. However, the same Gastrointestinal Severity Index cutoff score of 2 and above yielded, respectively, sensitivity and specificity rates of 92% and 93% for comparisons and 80% and 79% for autism spectrum disorder children. The negative and positive predictive values based on these sensitivity and specificity rates were calculated for a range of prevalences of gastrointestinal disorders and indicated that the Gastrointestinal Severity Index may be useful for screening children with and without autism spectrum disorder for gastrointestinal symptoms.

Early diagnosis of autism and impact on prognosis: a narrative review

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Fernell E

2013-02-01

Full Text Available Elisabeth Fernell,1 Mats Anders Eriksson,1,2 Christopher Gillberg11Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; 2Department of Women's and Children's Health, Karolinska Institute, Stockholm, SwedenAbstract: Autism spectrum disorders involve a set of clinical phenotypes that mirror an early onset of neurodevelopmental deviations, with core symptoms that can probably be related to a deficiency in the social instinct. Underlying the cognitive impairments there are physiological brain problems, caused by a large number of medical factors. This narrative review of systematic reviews and meta-analyses from the last 5 years (2008–2012 presents aspects from many areas in autism spectrum disorder research, with a particular focus on early intervention and the subsequent impact on prognosis. Other major areas discussed are epidemiology, early symptoms and screening, early diagnosis, neuropsychology, medical factors, and the existence of comorbidities. There is limited evidence that any of the broadband “early intervention” programs are effective in changing the natural long-term outcome for many individuals with an early diagnosis of autism. However, there is some evidence that Early Intensive Behavioral Intervention (EIBI is an effective treatment for some children with ASD. Nevertheless, there is emerging consensus that early diagnosis and information are needed in order that an autism-friendly environment be “created” around affected individuals.Keywords: autism spectrum disorder, epidemiology, screening, etiology, intervention, outcome

Phenotypic Characteristics of Autism Spectrum Disorder in a Diverse Sample of Somali and Other Children

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Esler, Amy N.; Hall-Lande, Jennifer; Hewitt, Amy

2017-01-01

The potential for culture to impact diagnosis of autism spectrum disorder (ASD) is high, yet remains largely unstudied. This study examined differences across racial/ethnic groups in ASD symptoms, cognitive and adaptive skills, and related behaviors in children with ASD that included a unique subgroup, children from the Somali diaspora. Somali…

Homogeneous Subgroups of Young Children with Autism Improve Phenotypic Characterization in the Study to Explore Early Development.

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Wiggins, Lisa D; Tian, Lin H; Levy, Susan E; Rice, Catherine; Lee, Li-Ching; Schieve, Laura; Pandey, Juhi; Daniels, Julie; Blaskey, Lisa; Hepburn, Susan; Landa, Rebecca; Edmondson-Pretzel, Rebecca; Thompson, William

2017-11-01

The objective of this study was to identify homogenous classes of young children with autism spectrum disorder (ASD) to improve phenotypic characterization. Children were enrolled in the Study to Explore Early Development between 2 and 5 years of age. 707 children were classified with ASD after a comprehensive evaluation with strict diagnostic algorithms. Four classes of children with ASD were identified from latent class analysis: mild language delay with cognitive rigidity, mild language and motor delay with dysregulation, general developmental delay, and significant developmental delay with repetitive motor behaviors. We conclude that a four-class phenotypic model of children with ASD best describes our data and improves phenotypic characterization of young children with ASD. Implications for screening, diagnosis, and research are discussed.

Are we under-estimating the association between autism symptoms?: The importance of considering simultaneous selection when using samples of individuals who meet diagnostic criteria for an autism spectrum disorder.

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Murray, Aja Louise; McKenzie, Karen; Kuenssberg, Renate; O'Donnell, Michael

2014-11-01

The magnitude of symptom inter-correlations in diagnosed individuals has contributed to the evidence that autism spectrum disorders (ASD) is a fractionable disorder. Such correlations may substantially under-estimate the population correlations among symptoms due to simultaneous selection on the areas of deficit required for diagnosis. Using statistical simulations of this selection mechanism, we provide estimates of the extent of this bias, given different levels of population correlation between symptoms. We then use real data to compare domain inter-correlations in the Autism Spectrum Quotient, in those with ASD versus a combined ASD and non-ASD sample. Results from both studies indicate that samples restricted to individuals with a diagnosis of ASD potentially substantially under-estimate the magnitude of association between features of ASD.

Why is vitamin B6 effective in alleviating the symptoms of autism?

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Sato, Kohji

2018-06-01

Many factors are reported to be involved in the complex pathophysiological processes of autism, suggesting that there is considerable variability in the manifestations of this disease. Several interventions are used to treat this disorder. Among them, vitamin B6 is widely used to treat the symptoms observed in autism. Vitamin B6 is beneficial for about half of autistic individuals in decreasing behavioral problems. However, until now, it remains unknown why vitamin B6 is effective for this disease. Although the exact pathogenesis is not defined, it is evident that certain neurotransmitter systems are impaired in the brains of autistic patients, causing the symptoms observed in the disease. In fact, impairment of many neurotransmitter systems has been reported, including GABA, serotonin, dopamine, and noradrenalin. Furthermore, vitamin B6 is important for the synthesis of many neurotransmitters, including GABA, serotonin, dopamine, noradrenalin, histamine, glycine, and d-serine, indicating that vitamin B6 supplementation may enhance many neurotransmitter systems. Thus, vitamin B6 supplementation can treat the impaired neurotransmitter systems in a given patient, even if the actual impaired neurotransmitter systems are not defined in that patient. Copyright © 2018 Elsevier Ltd. All rights reserved.

The Relationship of Everyday Executive Function and Autism Spectrum Disorder Symptoms in Preschoolers

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Etemad, Pontea

2010-01-01

The purpose of this study was to examine the relationship between executive functioning (EF), as manifested in everyday behavior, autism spectrum disorder (ASD) symptoms, and adaptive behaviors in a sample of preschoolers with ASD. Quantitative data from a clinical database were analyzed for this study. Participants in the ASD group (n=52) were a…

Brief Report: Whole Blood Serotonin Levels and Gastrointestinal Symptoms in Autism Spectrum Disorder

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Marler, Sarah; Ferguson, Bradley J.; Lee, Evon Batey; Peters, Brittany; Williams, Kent C.; McDonnell, Erin; Macklin, Eric A.; Levitt, Pat; Gillespie, Catherine Hagan; Anderson, George M.; Margolis, Kara Gross; Beversdorf, David Q.; Veenstra-VanderWeele, Jeremy

2016-01-01

Elevated whole blood serotonin levels are observed in more than 25% of children with autism spectrum disorder (ASD). Co-occurring gastrointestinal (GI) symptoms are also common in ASD but have not previously been examined in relationship with hyperserotonemia, despite the synthesis of serotonin in the gut. In 82 children and adolescents with ASD,…

Exploring sex differences in autistic traits: A factor analytic study of adults with autism.

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Grove, Rachel; Hoekstra, Rosa A; Wierda, Marlies; Begeer, Sander

2017-08-01

Research has highlighted potential differences in the phenotypic and clinical presentation of autism spectrum conditions across sex. Furthermore, the measures utilised to evaluate autism spectrum conditions may be biased towards the male autism phenotype. It is important to determine whether these instruments measure the autism phenotype consistently in autistic men and women. This study evaluated the factor structure of the Autism Spectrum Quotient Short Form in a large sample of autistic adults. It also systematically explored specific sex differences at the item level, to determine whether the scale assesses the autism phenotype equivalently across males and females. Factor analyses were conducted among 265 males and 285 females. A two-factor structure consisting of a social behaviour and numbers and patterns factor was consistent across groups, indicating that the latent autism phenotype is similar among both autistic men and women. Subtle differences were observed on two social behaviour item thresholds of the Autism Spectrum Quotient Short Form, with women reporting scores more in line with the scores expected in autism on these items than men. However, these differences were not substantial. This study showed that the Autism Spectrum Quotient Short Form detects autistic traits equivalently in males and females and is not biased towards the male autism phenotype.

Computer-analyzed facial expression as a surrogate marker for autism spectrum social core symptoms.

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Keiho Owada

Full Text Available To develop novel interventions for autism spectrum disorder (ASD core symptoms, valid, reliable, and sensitive longitudinal outcome measures are required for detecting symptom change over time. Here, we tested whether a computerized analysis of quantitative facial expression measures could act as a marker for core ASD social symptoms. Facial expression intensity values during a semi-structured socially interactive situation extracted from the Autism Diagnostic Observation Schedule (ADOS were quantified by dedicated software in 18 high-functioning adult males with ASD. Controls were 17 age-, gender-, parental socioeconomic background-, and intellectual level-matched typically developing (TD individuals. Statistical analyses determined whether values representing the strength and variability of each facial expression element differed significantly between the ASD and TD groups and whether they correlated with ADOS reciprocal social interaction scores. Compared with the TD controls, facial expressions in the ASD group appeared more "Neutral" (d = 1.02, P = 0.005, PFDR 0.05 with lower variability in Happy expression (d = 1.10, P = 0.003, PFDR < 0.05. Moreover, the stronger Neutral facial expressions in the ASD participants were positively correlated with poorer ADOS reciprocal social interaction scores (ρ = 0.48, P = 0.042. These findings indicate that our method for quantitatively measuring reduced facial expressivity during social interactions can be a promising marker for core ASD social symptoms.

Computer-analyzed facial expression as a surrogate marker for autism spectrum social core symptoms.

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Owada, Keiho; Kojima, Masaki; Yassin, Walid; Kuroda, Miho; Kawakubo, Yuki; Kuwabara, Hitoshi; Kano, Yukiko; Yamasue, Hidenori

2018-01-01

To develop novel interventions for autism spectrum disorder (ASD) core symptoms, valid, reliable, and sensitive longitudinal outcome measures are required for detecting symptom change over time. Here, we tested whether a computerized analysis of quantitative facial expression measures could act as a marker for core ASD social symptoms. Facial expression intensity values during a semi-structured socially interactive situation extracted from the Autism Diagnostic Observation Schedule (ADOS) were quantified by dedicated software in 18 high-functioning adult males with ASD. Controls were 17 age-, gender-, parental socioeconomic background-, and intellectual level-matched typically developing (TD) individuals. Statistical analyses determined whether values representing the strength and variability of each facial expression element differed significantly between the ASD and TD groups and whether they correlated with ADOS reciprocal social interaction scores. Compared with the TD controls, facial expressions in the ASD group appeared more "Neutral" (d = 1.02, P = 0.005, PFDR Neutral expression (d = 1.08, P = 0.003, PFDR 0.05) with lower variability in Happy expression (d = 1.10, P = 0.003, PFDR Neutral facial expressions in the ASD participants were positively correlated with poorer ADOS reciprocal social interaction scores (ρ = 0.48, P = 0.042). These findings indicate that our method for quantitatively measuring reduced facial expressivity during social interactions can be a promising marker for core ASD social symptoms.

Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females.

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Blackmon, Karen; Bluvstein, Judith; MacAllister, William S; Avallone, Jennifer; Misajon, Jade; Hedlund, Julie; Goldberg, Rina; Bojko, Aviva; Mitra, Nirmala; Giridharan, Radha; Sultan, Richard; Keller, Seth; Devinsky, Orrin

2016-02-01

The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. Autism Res 2016, 9: 311-320. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome.

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Wheeler, Anne C; Mussey, Joanna; Villagomez, Adrienne; Bishop, Ellen; Raspa, Melissa; Edwards, Anne; Bodfish, James; Bann, Carla; Bailey, Donald B

2015-03-01

We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses. Symptom counts were categorized based on DSM-IV-TR and DSM-5 criteria. Based on behavioral symptoms endorsed by caregivers, 38.7 % of males and 24.7 % of females met criteria for DSM-IV-TR diagnosis of autistic disorder. Significantly fewer males (27.8 %) and females (11.3 %) met criteria for ASD based on DSM-5 criteria. Although 86.4 % of males and 61.7 % of females met criteria for the restricted and repetitive behavior domain for DSM-5, only 29.4 % of males and 13.0 % of females met criteria for the social communication and interaction (SCI) domain. Relaxing the social communication criteria by one symptom count led to a threefold increase in those meeting criteria for ASD, suggesting the importance of subthreshold SCI symptoms for individuals with FXS in ASD diagnoses. Findings suggest important differences in the way ASD may be conceptualized in FXS based on the new DSM-5 criteria.

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism.

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Dhamne, Sameer C; Silverman, Jill L; Super, Chloe E; Lammers, Stephen H T; Hameed, Mustafa Q; Modi, Meera E; Copping, Nycole A; Pride, Michael C; Smith, Daniel G; Rotenberg, Alexander; Crawley, Jacqueline N; Sahin, Mustafa

2017-01-01

Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD. The larger goal of our strategy is to empower the preclinical biomedical ASD research field by generating robust and reproducible behavioral and physiological phenotypes in animal models of ASD, for the characterization of mechanistic underpinnings of ASD-relevant phenotypes, and to ensure reliability for the discovery of novel therapeutics. Genetic disruption of the SHANK3 gene, a scaffolding protein involved in the stability of the postsynaptic density in excitatory synapses, is thought to be responsible for a relatively large number of cases of ASD. Therefore, we have thoroughly characterized the robustness of ASD-relevant behavioral phenotypes in two cohorts, and for the first time quantified translational EEG activity in Shank3B null mutant mice. In vivo physiology and behavioral assays were conducted in two independently bred and tested full cohorts of Shank3B null mutant ( Shank3B KO) and wildtype littermate control (WT) mice. EEG was recorded via wireless implanted telemeters for 7 days of baseline followed by 20 min of recording following pentylenetetrazol (PTZ) challenge. Behaviors relevant to the diagnostic and associated symptoms of ASD were tested on a battery of established behavioral tests. Assays were designed to reproduce and expand on the original behavioral characterization of Shank3B KO mice. Two or more corroborative tests were conducted within each

Are Generalized Anxiety and Depression Symptoms Associated with Social Competence in Children with and without Autism Spectrum Disorder?

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Johnston, Krista Haley Smith; Iarocci, Grace

2017-01-01

Generalized anxiety and depression symptoms may be associated with poorer social outcomes among children with Autism Spectrum Disorder (ASD) without intellectual disability. The goal of this study was to examine whether generalized anxiety and depression symptoms were associated with social competence after accounting for IQ, age, and gender in…

Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

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Vierck, Esther; Silverman, Jeremy M.

2015-01-01

Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

Categorical and dimensional structure of autism spectrum disorders: the nosologic validity of Asperger Syndrome.

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Kamp-Becker, Inge; Smidt, Judith; Ghahreman, Mardjan; Heinzel-Gutenbrunner, Monika; Becker, Katja; Remschmidt, Helmut

2010-08-01

There is an ongoing debate whether a differentiation of autistic subtypes, especially between Asperger Syndrome (AS) and high-functioning-autism (HFA) is possible and if so, whether it is a categorical or dimensional one. The aim of this study was to examine the possible clustering of responses in different symptom domains without making any assumption concerning diagnostic appreciation. About 140 children and adolescents, incorporating 52 with a diagnosis of AS, 44 with HFA, 8 with atypical autism and 36 with other diagnoses, were examined. Our study does not support the thesis that autistic disorders are discrete phenotypes. On the contrary, it provides evidence that e.g. AS and autism are not qualitatively distinct disorders, but rather different quantitative manifestations of the same disorder.

Chromatin regulators, phenotypic robustness and autism risk

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Reut eSuliman

2014-04-01

Full Text Available Though extensively characterized clinically, the causes of autism spectrum disorder (ASD remain a mystery. ASD is known to have a strong genetic basis, but it is genetically very heterogeneous. Recent studies have estimated that de novo disruptive mutations in hundreds of genes may contribute to ASD. However, it is unclear how it is possible for mutations in so many different genes to contribute to ASD. Recent findings suggest that many of the mutations disrupt genes involved in transcription regulation that are expressed prenatally in the developing brain. De novo disruptive mutations are also more frequent in girls with ASD, despite the fact that ASD is more prevalent in boys. In this paper, we hypothesize that loss of robustness may contribute to ASD. Loss of phenotypic robustness may be caused by mutations that disrupt capacitors that operate in the developing brain. This may lead to the release of cryptic genetic variation that contributes to ASD. Reduced robustness is consistent with the observed variability in expressivity and incomplete penetrance. It is also consistent with the hypothesis that the development of the female brain is more robust, and it may explain the higher rate and severity of disruptive de novo mutations in girls with ASD.

Are We Under-Estimating the Association between Autism Symptoms?: The Importance of Considering Simultaneous Selection When Using Samples of Individuals Who Meet Diagnostic Criteria for an Autism Spectrum Disorder

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Murray, Aja Louise; McKenzie, Karen; Kuenssberg, Renate; O'Donnell, Michael

2014-01-01

The magnitude of symptom inter-correlations in diagnosed individuals has contributed to the evidence that autism spectrum disorders (ASD) is a fractionable disorder. Such correlations may substantially under-estimate the population correlations among symptoms due to simultaneous selection on the areas of deficit required for diagnosis. Using…

A Causal and Mediation Analysis of the Comorbidity Between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD)

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Sokolova, Elena; Oerlemans, Anoek M.; Rommelse, Nanda; Groot, Perry; Hartman, Catharina A.; Glennon, Jeffrey C; Claassen, Tom; Heskes, Tom; Buitelaar, Jan K.

Autism spectrum disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) are often comorbid. The purpose of this study is to explore the relationships between ASD and ADHD symptoms by applying causal modeling. We used a large phenotypic data set of 417 children with ASD and/or ADHD, 562

Use of complementary and alternative medicine in children with autism and other developmental disabilities: associations with ethnicity, child comorbid symptoms, and parental stress.

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Valicenti-McDermott, Maria; Burrows, Bethany; Bernstein, Leora; Hottinger, Kathryn; Lawson, Katharine; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo

2014-03-01

The use of complementary and alternative medicine by children with autism and the association of its use with child comorbid symptoms and parental stress was studied in an ethnically diverse population, in a cross-sectional study with structured interviews. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included the Complementary and Alternative Medicine Questionnaire, Gastrointestinal Questionnaire, Children's Sleep Habits Questionnaire, Aberrant Behavior Checklist, and Parenting Stress Index. In this ethnically diverse sample, the use of complementary and alternative medicine was significantly higher for the autism group. In the autism group, use was significantly related to child's irritability, hyperactivity, food allergies, and parental stress; in the developmental disabilities group, there was no association with child comorbid symptoms or parental stress. The results contribute information to health care providers about families of children with autism who are more likely to use complementary and alternative medicine.

Approaches to studying and manipulating the enteric microbiome to improve autism symptoms

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Richard E. Frye

2015-05-01

Full Text Available There is a growing body of scientific evidence that the health of the microbiome (the trillions of microbes that inhabit the human host plays an important role in maintaining the health of the host and that disruptions in the microbiome may play a role in certain disease processes. An increasing number of research studies have provided evidence that the composition of the gut (enteric microbiome (GM in at least a subset of individuals with autism spectrum disorder (ASD deviates from what is usually observed in typically developing individuals. There are several lines of research that suggest that specific changes in the GM could be causative or highly associated with driving core and associated ASD symptoms, pathology, and comorbidities which include gastrointestinal symptoms, although it is also a possibility that these changes, in whole or in part, could be a consequence of underlying pathophysiological features associated with ASD. However, if the GM truly plays a causative role in ASD, then the manipulation of the GM could potentially be leveraged as a therapeutic approach to improve ASD symptoms and/or comorbidities, including gastrointestinal symptoms. One approach to investigating this possibility in greater detail includes a highly controlled clinical trial in which the GM is systematically manipulated to determine its significance in individuals with ASD. To outline the important issues that would be required to design such a study, a group of clinicians, research scientists, and parents of children with ASD participated in an interdisciplinary daylong workshop as an extension of the 1st International Symposium on the Microbiome in Health and Disease with a Special Focus on Autism (www.microbiome-autism.com. The group considered several aspects of designing clinical studies, including clinical trial design, treatments that could potentially be used in a clinical trial, appropriate ASD participants for the clinical trial, behavioral and

Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders

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2016-01-01

ABSTRACT: Despite the progress made in understanding the biology of autism spectrum disorder (ASD), effective biological interventions for the core symptoms remain elusive. Because of the etiological heterogeneity of ASD, identification of a “one-size-fits-all” treatment approach will likely continue to be challenging. A meeting was convened at the University of Missouri and the Thompson Center to discuss strategies for stratifying patients with ASD for the purpose of moving toward precision medicine. The “white paper” presented here articulates the challenges involved and provides suggestions for future solutions. PMID:27676697

Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm

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Bröring, Tinka; Oostrom, Kim J.; van Dijk-Lokkart, Elisabeth M.; Lafeber, Harrie N.; Brugman, Anniek; Oosterlaan, Jaap

Background: Very preterm (VP) children face a broad range of neurodevelopmental sequelae, including behavioral problems. Aim: To investigate prevalence, pervasiveness and co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in school-age

The Moderating Effects of Intellectual Development on Core Symptoms of Autism and PDD-NOS in Toddlers and Infants

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Matson, Johnny L.; Dempsey, Timothy; LoVullo, Santino V.; Fodstad, Jill C.; Knight, Cheryl; Sevin, Jay A.; Sharp, Brenda

2013-01-01

Little research has been conducted on whether deficits in developmental functioning affect the range of core symptoms for autism spectrum disorders (ASD). This study represents a first attempt to determine whether developmental level has an effect on the expression of ASD symptoms in infants and toddlers. Eight hundred and fifty-three infants were…

Formal thought disorder in autism spectrum disorder predicts future symptom severity, but not psychosis prodrome

NARCIS (Netherlands)

Eussen, M.L.J.M.; de Bruin, E.I.; van Gool, A.R.; Louwerse, E.S.; van der Ende, J.; Verheij, F.; Verhulst, F.C.; Greaves-Lord, K.

2015-01-01

Formal thought disorder (FTD) is a disruption in the flow of thought, which is inferred from disorganisation of spoken language. FTD in autism spectrum disorders (ASD) might be a precursor of psychotic disorders or a manifestation of ASD symptom severity. The current longitudinal study is a

Parkinson Disease: The Relationship Between Non-motor Symptoms and Motor Phenotype.

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Ba, Fang; Obaid, Mona; Wieler, Marguerite; Camicioli, Richard; Martin, W R Wayne

2016-03-01

Parkinson disease (PD) presents with motor and non-motor symptoms (NMS). The NMS often precede the onset of motor symptoms, but may progress throughout the disease course. Tremor dominant, postural instability gait difficulty (PIGD), and indeterminate phenotypes can be distinguished using Unified PD Rating scales (UPDRS-III). We hypothesized that the PIGD phenotype would be more likely to develop NMS, and that the non-dopamine-responsive axial signs would correlate with NMS severity. We conducted a retrospective cross-sectional chart review to assess the relationship between NMS and PD motor phenotypes. PD patients were administered the NMS Questionnaire, the UPDRS-III, and the Mini-Mental State Examination score. The relationship between NMS burden and PD subtypes was examined using linear regression models. The prevalence of each NMS among difference PD motor subtypes was analyzed using chi-square test. PD patients with more advanced disease based on their UPDRS-III had higher NMS Questionnaire scores. The axial component of UPDRS-III correlated with higher NMS. There was no correlation between NMS and tremor scores. There was a significant correlation between PIGD score and higher NMS burden. PIGD group had higher prevalence in most NMS domains when compared with tremor dominant and indeterminate groups independent of disease duration and severity. NMS profile and severity vary according to motor phenotype. We conclude that in the PD population, patients with a PIGD phenotype who have more axial involvement, associated with advanced disease and poor motor response, have a higher risk for a higher NMS burden.

A behavioral comparison of male and female adults with high functioning autism spectrum conditions.

Directory of Open Access Journals (Sweden)

Meng-Chuan Lai

Full Text Available Autism spectrum conditions (ASC affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences. Testing for similarities and differences between the sexes is important not only for clinical assessment but also has implications for theories of typical sex differences and of autism. Using cognitive and behavioral measures, we investigated similarities and differences between the sexes in age- and IQ-matched adults with ASC (high-functioning autism or Asperger syndrome. Of the 83 (45 males and 38 females participants, 62 (33 males and 29 females met Autism Diagnostic Interview-Revised (ADI-R cut-off criteria for autism in childhood and were included in all subsequent analyses. The severity of childhood core autism symptoms did not differ between the sexes. Males and females also did not differ in self-reported empathy, systemizing, anxiety, depression, and obsessive-compulsive traits/symptoms or mentalizing performance. However, adult females with ASC showed more lifetime sensory symptoms (p = 0.036, fewer current socio-communication difficulties (p = 0.001, and more self-reported autistic traits (p = 0.012 than males. In addition, females with ASC who also had developmental language delay had lower current performance IQ than those without developmental language delay (p<0.001, a pattern not seen in males. The absence of typical sex differences in empathizing-systemizing profiles within the autism spectrum confirms a prediction from the extreme male brain theory. Behavioral sex differences within ASC may also reflect different developmental mechanisms between males and females with ASC. We discuss the importance of the superficially better socio-communication ability in adult females with ASC in terms of why females with ASC may more often go under-recognized, and receive their diagnosis later, than males.

Unexpected improvement in core autism spectrum disorder symptoms after long-term treatment with probiotics

Directory of Open Access Journals (Sweden)

Enzo Grossi

2016-08-01

Full Text Available Objectives: Autism spectrum disorder is a neurodevelopmental condition that typically displays socio-communicative impairment as well as restricted stereotyped interests and activities, in which gastrointestinal disturbances are commonly reported. We report the case of a boy with Autism Spectrum Disorder (ASD diagnosis, severe cognitive disability and celiac disease in which an unexpected improvement of autistic core symptoms was observed after four months of probiotic treatment. Method: The case study refers to a 12 years old boy with ASD and severe cognitive disability attending the Villa Santa Maria Institute in resident care since 2009. Diagnosis of ASDs according to DSM-V criteria was confirmed by ADOS-2 assessment (Autism Diagnostic Observation Schedule. The medication used was VSL#3, a multi-strain mixture of ten probiotics. The treatment lasted 4 weeks followed by a four month follow-up. The rehabilitation program and the diet was maintained stable in the treatment period and in the follow up. ADOS-2 was assessed six times: two times before starting treatment; two times during the treatment and two times after interruption of the treatment. Results: The probiotic treatment reduced the severity of abdominal symptoms as expected but an improvement in Autistic core symptoms was unexpectedly clinically evident already after few weeks from probiotic treatment start. The score of Social Affect domain of ADOS improved changing from 20 to 18 after two months treatment with a further reduction of 1 point in the following two months. The level 17 of severity remained stable in the follow up period. It is well known that ADOS score does not fluctuate spontaneously along time in ASD and is absolutely stable. Conclusions: The appropriate use of probiotics deserves further research, which hopefully will open new avenues in the fight against ASD.

Unexpected improvement in core autism spectrum disorder symptoms after long-term treatment with probiotics.

Science.gov (United States)

Grossi, Enzo; Melli, Sara; Dunca, Delia; Terruzzi, Vittorio

2016-01-01

Autism spectrum disorder is a neurodevelopmental condition that typically displays socio-communicative impairment as well as restricted stereotyped interests and activities, in which gastrointestinal disturbances are commonly reported. We report the case of a boy with Autism Spectrum Disorder (ASD) diagnosis, severe cognitive disability and celiac disease in which an unexpected improvement of autistic core symptoms was observed after four months of probiotic treatment. The case study refers to a 12 years old boy with ASD and severe cognitive disability attending the Villa Santa Maria Institute in resident care since 2009. Diagnosis of ASDs according to DSM-V criteria was confirmed by ADOS-2 assessment (Autism Diagnostic Observation Schedule). The medication used was VSL#3, a multi-strain mixture of ten probiotics. The treatment lasted 4 weeks followed by a four month follow-up. The rehabilitation program and the diet was maintained stable in the treatment period and in the follow up. ADOS-2 was assessed six times: two times before starting treatment; two times during the treatment and two times after interruption of the treatment. The probiotic treatment reduced the severity of abdominal symptoms as expected but an improvement in Autistic core symptoms was unexpectedly clinically evident already after few weeks from probiotic treatment start. The score of Social Affect domain of ADOS improved changing from 20 to 18 after two months treatment with a further reduction of 1 point in the following two months. The level 17 of severity remained stable in the follow up period. It is well known that ADOS score does not fluctuate spontaneously along time in ASD and is absolutely stable. The appropriate use of probiotics deserves further research, which hopefully will open new avenues in the fight against ASD.

Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm

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Bröring, Tinka; Oostrom, Kim J.; van Dijk-Lokkart, Elisabeth M.; Lafeber, Harrie N.; Brugman, Anniek; Oosterlaan, Jaap

2018-01-01

Very preterm (VP) children face a broad range of neurodevelopmental sequelae, including behavioral problems. To investigate prevalence, pervasiveness and co-occurrence of symptoms of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in school-age children born very

A semantic-based method for extracting concept definitions from scientific publications: evaluation in the autism phenotype domain

OpenAIRE

Hassanpour, Saeed; O?Connor, Martin J; Das, Amar K

2013-01-01

Background A variety of informatics approaches have been developed that use information retrieval, NLP and text-mining techniques to identify biomedical concepts and relations within scientific publications or their sentences. These approaches have not typically addressed the challenge of extracting more complex knowledge such as biomedical definitions. In our efforts to facilitate knowledge acquisition of rule-based definitions of autism phenotypes, we have developed a novel semantic-based t...

The Association Between Children with Autism and Gastrointestinal Symptoms

OpenAIRE

Prince, Yasmeen

2013-01-01

Every day many thousands of children face the complications of Autism. According to Geraghty, Depasquale, and Lane (2010), Autism has become one of the most frequently diagnosed developmental disabilities, with one in one hundred children diagnosed with Autism in the United States every day. The etiology of Autism Spectrum Disorder (ASD) has not been determined. One of many questions researchers are asking is whether an association exists between gastrointestinal disorders and Autism. This li...

Exploring Sex Differences in Autistic Traits: A Factor Analytic Study of Adults with Autism

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Grove, Rachel; Hoekstra, Rosa A.; Wierda, Marlies; Begeer, Sander

2017-01-01

Research has highlighted potential differences in the phenotypic and clinical presentation of autism spectrum conditions across sex. Furthermore, the measures utilised to evaluate autism spectrum conditions may be biased towards the male autism phenotype. It is important to determine whether these instruments measure the autism phenotype…

The Relationship between Optimism, Coping, and Depressive Symptoms in Hispanic Mothers and Fathers of Children with Autism Spectrum Disorder

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Willis, Kelcie; Timmons, Lisa; Pruitt, Megan; Schneider, Hoa Lam; Alessandri, Michael; Ekas, Naomi V.

2016-01-01

This study examined gender differences in the relationship between dispositional optimism, coping, and depressive symptoms of Hispanic mothers (n = 46) and fathers (n = 43) of children with autism spectrum disorder. Coping was hypothesized to mediate the relationship between optimism and depressive symptoms. The results revealed that mothers…

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.

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Ellegood, J; Anagnostou, E; Babineau, B A; Crawley, J N; Lin, L; Genestine, M; DiCicco-Bloom, E; Lai, J K Y; Foster, J A; Peñagarikano, O; Geschwind, D H; Pacey, L K; Hampson, D R; Laliberté, C L; Mills, A A; Tam, E; Osborne, L R; Kouser, M; Espinosa-Becerra, F; Xuan, Z; Powell, C M; Raznahan, A; Robins, D M; Nakai, N; Nakatani, J; Takumi, T; van Eede, M C; Kerr, T M; Muller, C; Blakely, R D; Veenstra-VanderWeele, J; Henkelman, R M; Lerch, J P

2015-02-01

Autism is a heritable disorder, with over 250 associated genes identified to date, yet no single gene accounts for >1-2% of cases. The clinical presentation, behavioural symptoms, imaging and histopathology findings are strikingly heterogeneous. A more complete understanding of autism can be obtained by examining multiple genetic or behavioural mouse models of autism using magnetic resonance imaging (MRI)-based neuroanatomical phenotyping. Twenty-six different mouse models were examined and the consistently found abnormal brain regions across models were parieto-temporal lobe, cerebellar cortex, frontal lobe, hypothalamus and striatum. These models separated into three distinct clusters, two of which can be linked to the under and over-connectivity found in autism. These clusters also identified previously unknown connections between Nrxn1α, En2 and Fmr1; Nlgn3, BTBR and Slc6A4; and also between X monosomy and Mecp2. With no single treatment for autism found, clustering autism using neuroanatomy and identifying these strong connections may prove to be a crucial step in predicting treatment response.

Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome.

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Lo, Sin Ting; Siemensma, Elbrich; Collin, Philippe; Hokken-Koelega, Anita

2013-09-01

In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder.

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Ko, Chanyoung; Kim, Namwook; Kim, Eunjoo; Song, Dong Ho; Cheon, Keun-Ah

2016-06-27

As the prevalence of autism spectrum disorders in people with epilepsy ranges from 15 to 47 % (Clarke et al. in Epilepsia 46:1970-1977, 2005), it is speculated that there is a special relationship between the two disorders, yet there has been a lack of systematic studies comparing the behavioral phenotype between autistic individuals and autistic individuals with epilepsy. This study aims to investigate how the co-occurrence of epilepsy and Autism Spectrum Disorder (ASD) affects autistic characteristics assessed by the Social Responsiveness Scale (SRS), which has been used as a measure of autism symptoms in previous studies. In this research we referred to all individuals with Autism or Autistic Disorder as individuals with ASD. We reviewed the complete medical records of 182 participants who presented to a single tertiary care referral center from January 1, 2013 to July 28, 2015, and subsequently received complete child and adolescent psychiatric assessments. Of the 182 participants, 22 were diagnosed with Autism Spectrum Disorder and epilepsy. Types of epilepsy observed in these individuals included complex partial seizure, generalized tonic-clonic seizure, or infantile spasm. Using 'Propensity Score Matching' we selected 44 children, diagnosed with only Autism Spectrum Disorder, whose age, gender, and intelligence quotient (IQ) were closely matched with the 22 children diagnosed with Autism Spectrum Disorder and epilepsy. Social functioning of participants was assessed by the social responsiveness scale, which consists of five categories: social awareness, social cognition, social communication, social motivation, and autistic mannerisms. Bivariate analyses were conducted to compare the ASD participants with epilepsy group with the ASD-only group on demographic and clinical characteristics. Chi square and t test p values were calculated when appropriate. There was no significant difference in age (p = 0.172), gender (p > 0.999), IQ (FSIQ, p = 0.139; VIQ

Brief Report: "Allergic Symptoms" in Children with Autism Spectrum Disorders. More than Meets the Eye?

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Angelidou, Asimenia; Alysandratos, Konstantinos-Dionysios; Asadi, Shahrzad; Zhang, Bodi; Francis, Konstantinos; Vasiadi, Magdalini; Kalogeromitros, Dimitrios; Theoharides, Theoharis C.

2011-01-01

Many children with Autism Spectrum Disorders (ASD) have either family and/or personal history of "allergic symptomatology", often in the absence of positive skin or RAST tests. These symptoms may suggest mast cell activation by non-allergic triggers. Moreover, children with mastocytosis or mast cell activation syndrome (MCAS), a spectrum of rare…

Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

Science.gov (United States)

Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

2013-01-01

Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

Structural hierarchy of autism spectrum disorder symptoms: an integrative framework.

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Kim, Hyunsik; Keifer, Cara M; Rodriguez-Seijas, Craig; Eaton, Nicholas R; Lerner, Matthew D; Gadow, Kenneth D

2018-01-01

In an attempt to resolve questions regarding the symptom classification of autism spectrum disorder (ASD), previous research generally aimed to demonstrate superiority of one model over another. Rather than adjudicating which model may be optimal, we propose an alternative approach that integrates competing models using Goldberg's bass-ackwards method, providing a comprehensive understanding of the underlying symptom structure of ASD. The study sample comprised 3,825 individuals, consecutive referrals to a university hospital developmental disabilities specialty clinic or a child psychiatry outpatient clinic. This study analyzed DSM-IV-referenced ASD symptom statements from parent and teacher versions of the Child and Adolescent Symptom Inventory-4R. A series of exploratory structural equation models was conducted in order to produce interpretable latent factors that account for multivariate covariance. Results indicated that ASD symptoms were structured into an interpretable hierarchy across multiple informants. This hierarchy includes five levels; key features of ASD bifurcate into different constructs with increasing specificity. This is the first study to examine an underlying structural hierarchy of ASD symptomatology using the bass-ackwards method. This hierarchy demonstrates how core features of ASD relate at differing levels of resolution, providing a model for conceptualizing ASD heterogeneity and a structure for integrating divergent theories of cognitive processes and behavioral features that define the disorder. These findings suggest that a more coherent and complete understanding of the structure of ASD symptoms may be reflected in a metastructure rather than at one level of resolution. © 2017 Association for Child and Adolescent Mental Health.

Sensory Symptoms and Processing of Nonverbal Auditory and Visual Stimuli in Children with Autism Spectrum Disorder

Science.gov (United States)

Stewart, Claire R.; Sanchez, Sandra S.; Grenesko, Emily L.; Brown, Christine M.; Chen, Colleen P.; Keehn, Brandon; Velasquez, Francisco; Lincoln, Alan J.; Müller, Ralph-Axel

2016-01-01

Atypical sensory responses are common in autism spectrum disorder (ASD). While evidence suggests impaired auditory-visual integration for verbal information, findings for nonverbal stimuli are inconsistent. We tested for sensory symptoms in children with ASD (using the Adolescent/Adult Sensory Profile) and examined unisensory and bisensory…

Toilet training in children with a functional defecation disorder and concomitant symptoms of autism spectrum disorder

NARCIS (Netherlands)

Peeters, Babette; Noens, Ilse; Kuppens, Sofie; Benninga, Marc A.

2016-01-01

The purpose of this study was to determine the association between the presence of symptoms of Autism Spectrum Disorder (ASD) and the time of completion of toilet training in pediatric patients with a Functional Defecation Disorder (FDD). Consecutive children (4-12 yrs) presenting with FDD according

Changes in insulin-like growth factor signaling alter phenotypes in Fragile X Mice.

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Wise, T L

2017-02-01

Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5' untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing. Two non-neurological phenotypes of FXS are enlarged testes and connective tissue dysplasia, which could be caused by alterations in a growth factor signaling pathway. FXS patients also frequently have autistic-like symptoms, suggesting that the signaling pathways affected in FXS may overlap with those affected in autism. Identifying these pathways is important for both understanding the effects of FMR1 inactivation and developing treatments for both FXS and autism. Here we show that decreasing the levels of the insulin-like growth factor (Igf) receptor 1 corrects a number of phenotypes in the mouse model of FXS, including macro-orchidism, and that increasing the levels of IGF2 exacerbates the seizure susceptibility phenotype. These results suggest that the pathways altered by the loss of the FMR1-encoded protein (FMRP) may overlap with the pathways affected by changes in Igf signaling or that one or more of the proteins that play a role in Igf signaling could interact with FMRP. They also indicate a new set of potential targets for drug treatment of FXS and autism spectrum disorders. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder.

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Goddard, Marcia N; Swaab, Hanna; Rombouts, Serge A R B; van Rijn, Sophie

2016-09-01

Klinefelter syndrome (47, XXY) is associated with several physical, cognitive, and behavioral consequences. In terms of social development, there is an increased risk of autism symptomatology. However, it remains unclear how social deficits are related to abnormal brain development and to what degree underlying mechanisms of social dysfunction in 47, XXY are similar to, or different from, those in idiopathic autism (ASD). This study was aimed at investigating the neural architecture of brain structures related to social information processing in boys with 47, XXY, also in comparison with boys with idiopathic ASD. MRI scans of 16 boys with 47, XXY, 16 with ASD, and 16 nonclinical, male controls were analyzed using voxel-based morphometry (VBM). A region of interest mask containing the superior temporal cortex, amygdala, orbitofrontal cortex (OFC), insular cortex, and medial frontal cortex was used. The Social Responsiveness Scale (SRS) was used to assess degree of autism spectrum symptoms. The 47, XXY group could not be distinguished from the ASD group on mean SRS scores, and their scores were significantly higher than in controls. VBM showed that boys with 47, XXY have significant gray matter volume reductions in the left and right insula, and the left OFC, compared with controls and boys with ASD. Additionally, boys with 47, XXY had significantly less gray matter in the right superior temporal gyrus than controls. These results imply social challenges associated with 47, XXY may be rooted in neural anatomy, and autism symptoms in boys with 47, XXY and boys with ASD might have, at least partially, different underlying etiologies.

Anxiety Symptoms in Boys with Autism Spectrum Disorder, Attention-Deficit Hyperactivity Disorder, or Chronic Multiple Tic Disorder and Community Controls

Science.gov (United States)

Guttmann-Steinmetz, Sarit; Gadow, Kenneth D.; DeVincent, Carla J.; Crowell, Judy

2010-01-01

We compared symptoms of generalized anxiety disorder (GAD) and separation anxiety disorder (SAD) in 5 groups of boys with neurobehavioral syndromes: attention-deficit/hyperactivity disorder (ADHD) plus autism spectrum disorder (ASD), ADHD plus chronic multiple tic disorder (CMTD), ASD only, ADHD only, and community Controls. Anxiety symptoms were…

Anxiety Disorders in Typically Developing Youth: Autism Spectrum Symptoms as a Predictor of Cognitive-Behavioral Treatment

Science.gov (United States)

Puleo, Connor M.; Kendall, Philip C.

2011-01-01

Symptoms of autism spectrum disorder (ASD) were assessed (Social Responsiveness Scale-Parent (SRS-P); coded in-session behavior) in typically-developing, anxiety-disordered children (N = 50) treated with cognitive-behavioral therapy (CBT). "Study 1": children with moderate autistic symptomology (per SRS-P) were significantly more likely to improve…

Are gastrointestinal and sleep problems associated with behavioral symptoms of autism spectrum disorder?

Science.gov (United States)

Yang, Xiao-Lei; Liang, Shuang; Zou, Ming-Yang; Sun, Cai-Hong; Han, Pan-Pan; Jiang, Xi-Tao; Xia, Wei; Wu, Li-Jie

2018-01-01

Many children with autism spectrum disorder (ASD) suffer from concurrent medical symptoms, including gastrointestinal (GI) and sleeping problems. However, there is limited information on the correlation between co-morbidities and autistic behavioral symptoms. In this study, we estimated the prevalence of GI and sleep problems in Chinese ASD children, examined the impacts of GI and sleep problems on autistic behavioral symptoms, and investigated the factors associated with GI and sleep problems. The survey included 169 ASD and 172 healthy children. Data regarding demographic characteristics, GI symptoms, sleep disturbances and behavioral symptoms were collected through questionnaires. GI and sleep problems were prevalent in Chinese ASD children. Moreover, ASD children with GI symptoms reported more severe ASD core symptoms than others. Autistic children's GI symptoms were associated with maternal sleep problems during pregnancy, child's 0-6 month food sources and picky eating. ASD children with sleep disturbances had lower performance in daily living skills, social cognition, social communication and intellectual development than ASD children without sleep disturbances. Sleep disturbances were associated with extra nutrient supply during lactation and feeding, and child's picky eating. Autistic children with GI or/and sleep problems may represent clinically relevant subtypes of ASD, for which targeted treatments may be needed. Copyright © 2017 Elsevier B.V. All rights reserved.

Visual Symptoms in Adults with Autism Spectrum Disorders

Directory of Open Access Journals (Sweden)

DR Simmons

2012-07-01

Full Text Available Autism Spectrum Disorders (ASDs are common developmental disorders thought to affect more than 1% of the UK population (Baird et al, 2006, The Lancet 368, 210. Whilst the current official diagnostic criteria for ASD concentrate on signs and symptoms associated with social behaviour, it is also well known that sensory difficulties are a major factor in the presentation of this condition (Simmons et al, 2009, Vision Research 49, 2705. Over the past few years we have been investigating these sensory symptoms of ASD using a combination of questionnaire and focus group data, with the aim of clarifying precisely what they are. Concentrating on the visual symptoms, our questionnaire data revealed that individuals with higher levels of autistic traits complained of more visual symptoms than those with lower trait levels. Specific issues highlighted included problems with bright light, especially artificial lighting and, more specifically, flicker from fluorescent lighting (a particular problem in supermarkets. Some individuals also complained of specific colours in artificial lights. Note that the symptoms associated with these aversions could be particularly strong and involve headache and nausea. The focus group (n = 6 of adults with ASD revealed more detail about these issues. It became clear that low-frequency visual flicker, once noticed, can be hard to divert attention from. Also, seeing certain colours (eg, red would “hurt”. Another symptom reported by a number of individuals is distress caused by strongly repetitive patterns like shelving or grids. General sensory issues highlighted by the focus group included the importance of having control over sensory stimulation in order to reduce sensory stress and how certain types of sensory stimulation could be calming in some situations (although none of our sample reported visual calming experiences other than seeking out natural lighting. Our data provide a fascinating insight into the complex

Autism

DEFF Research Database (Denmark)

Aggernaes, Bodil

2018-01-01

The concept of autism has changed across time, from the Bleulerian concept, which defined it as one of several symptoms of dementia praecox, to the present-day concept representing a pervasive development disorder. The present theoretical contribution to this special issue of EJN on autism...... introduces new theoretical ideas and discusses them in light of selected prior theories, clinical examples, and recent empirical evidence. The overall aim is to identify some present challenges of diagnostic practice and autism research and to suggest new pathways that may help direct future research. Future...

Social attention in a virtual public speaking task in higher functioning children with autism.

Science.gov (United States)

Jarrold, William; Mundy, Peter; Gwaltney, Mary; Bailenson, Jeremy; Hatt, Naomi; McIntyre, Nancy; Kim, Kwanguk; Solomon, Marjorie; Novotny, Stephanie; Swain, Lindsay

2013-10-01

Impairments in social attention play a major role in autism, but little is known about their role in development after preschool. In this study, a public speaking task was used to study social attention, its moderators, and its association with classroom learning in elementary and secondary students with higher functioning autism spectrum disorder (HFASD). Thirty-seven students with HFASD and 54 age- and intelligence quotient (IQ)-matched peers without symptoms of ASD were assessed in a virtual classroom public speaking paradigm. This paradigm assessed the ability to attend to nine avatar peers seated at a table, while simultaneously answering self-referenced questions. Students with HFASD looked less frequently to avatar peers in the classroom while talking. However, social attention was moderated in the HFASD sample such that students with lower IQ, and/or more symptoms of social anxiety, and/or more attention deficit/hyperactivity disorder inattentive symptoms, displayed more atypical social attention. Group differences were more pronounced when the classroom contained social avatars versus nonsocial targets. Moreover, measures of social attention rather than nonsocial attention were significantly associated with parent report and objective measures of learning in the classroom. The data in this study support the hypothesis of the Social Attention Model of ASD that social attention disturbance remains part of the school-aged phenotype of autism that is related to syndrome-specific problems in social learning. More research of this kind would likely contribute to advances in the understanding of the development of the spectrum of autism and educational intervention approaches for affected school-aged children. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

A Causal and Mediation Analysis of the Comorbidity between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD)

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Sokolova, Elena; Oerlemans, Anoek M.; Rommelse, Nanda N.; Groot, Perry; Hartman, Catharina A.; Glennon, Jeffrey C.; Claassen, Tom; Heskes, Tom; Buitelaar, Jan K.

2017-01-01

Autism spectrum disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) are often comorbid. The purpose of this study is to explore the relationships between ASD and ADHD symptoms by applying causal modeling. We used a large phenotypic data set of 417 children with ASD and/or ADHD, 562 affected and unaffected siblings, and 414 controls,…

Identifying Neurobiological Markers of the Broader Autism Phenotype

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2015-01-01

others: mirror neuron dysfuntion in children with autism spectrum disorders. Nautre Neuroscience, 9(1), 28-30. Eippert, F., Veit, R., Weiskopf...2251-2254. Gallese, V. (2007). Before and below ’ theory of mind ’: embodied simulation and the neural correlates of social cognition...2007). The Simulating Social Mind : The Role of the Mirror Neuron System and Simulation in the Social and Communicative Deficits of Autism Spectrum

The effects of birth order and birth interval on the phenotypic expression of autism spectrum disorder.

Directory of Open Access Journals (Sweden)

Loren A Martin

Full Text Available A rise in the prevalence of diagnosed cases of autism spectrum disorder (ASD has been reported in several studies in recent years. While this rise in ASD prevalence is at least partially related to increased awareness and broadened diagnostic criteria, the role of environmental factors cannot be ruled out, especially considering that the cause of most cases of ASD remains unknown. The study of families with multiple affected children can provide clues about ASD etiology. While the majority of research on ASD multiplex families has focused on identifying genetic anomalies that may underlie the disorder, the study of symptom severity across ASD birth order may provide evidence for environmental factors in ASD. We compared social and cognitive measures of behavior between over 300 first and second affected siblings within multiplex autism families obtained from the Autism Genetic Resource Exchange dataset. Measures included nonverbal IQ assessed with the Ravens Colored Progressive Matrices, verbal IQ assessed with the Peabody Picture Vocabulary Test, and autism severity assessed with the Social Responsiveness Scale (SRS, an instrument established as a quantitative measure of autism. The results indicated that females were more severely impacted by ASD than males, especially first affected siblings. When first and second affected siblings were compared, significant declines in nonverbal and verbal IQ scores were observed. In addition, SRS results demonstrated a significant increase in autism severity between first and second affected siblings consistent with an overall decline in function as indicated by the IQ data. These results remained significant after controlling for the age and sex of the siblings. Surprisingly, the SRS scores were found to only be significant when the age difference between siblings was less than 2 years. These results suggest that some cases of ASD are influenced by a dosage effect involving unknown epigenetic

Brief Report: Concurrent Validity of Autism Symptom Severity Measures

Science.gov (United States)

Reszka, Stephanie S.; Boyd, Brian A.; McBee, Matthew; Hume, Kara A.; Odom, Samuel L.

2014-01-01

The autism spectrum disorder (ASD) diagnostic classifications, according to the DSM-5, include a severity rating. Several screening and/or diagnostic measures, such as the autism diagnostic and observation schedule (ADOS), Childhood Autism Rating Scale (CARS) and social responsiveness scale (SRS) (teacher and parent versions), include an…

A Twin Study of Heritable and Shared Environmental Contributions to Autism

Science.gov (United States)

Frazier, Thomas W.; Thompson, Lee; Youngstrom, Eric A.; Law, Paul; Hardan, Antonio Y.; Eng, Charis; Morris, Nathan

2014-01-01

The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness…

Potential Biomarkers for Diagnosis and Screening of Autism Spectrum Disorders

Directory of Open Access Journals (Sweden)

Anna Meiliana

2014-12-01

Full Text Available BACKGROUND: Autism spectrum disorder (ASD is a highly heritable neurodevelopmental condition, which is typically characterized by a triad of symptoms: impaired social communication, social reciprocity and repetitive stereotypic behavior. While the behavioral phenotype of ASD is well described, the search for reliable ‘autism biomarkers’ continues. CONTENT: Insulin growth factor (IGF is essential for the myelination of developing fetal neurons; this is in addition to the well-known links between IGF, maternal inflammation, infection and autism supporting IGF as a potential marker. Combining IGF data with data regarding levels of the known markers, serotonin and anti-myelin basic protein, in order to calculate an autism index, could provide a new diagnostic method for at-risk neonates. Disruptions to multiple pathophysiological systems, including redox, folate, methylation, tryptophan metabolism, and mitochondrial metabolism, have been well documented in autistic patients. Maternal infection and inflammation have known links with autism. Autoimmunity has therefore been a well-studied area of autism research. The potential of using autoantibodies as novel biomarkers for autism, in addition to providing insights into the neurodevelopmental processes that lead to autism. SUMMARY: The six proposed causes of autism involve both metabolic and immunologic dysfunctions and include: increased oxidative stress; decreased methionine metabolism and trans-sulfuration: aberrant free and bound metal burden; gastrointestinal (GI disturbances; immune/inflammation dysregulation; and autoimmune targeting. A newborn screening program for early-onset ASD should be capable of utilizing a combination of ASD-associated biomarkers representative of the six proposed causes of autism in order to identify newborns at risk. The biomarkers discussed in this article are useful to guide the selection, efficacy and sufficiency of biomedical interventions, which would likely

Association between Anger Rumination and Autism Symptom Severity, Depression Symptoms, Aggression, and General Dysregulation in Adolescents with Autism Spectrum Disorder

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Patel, Shivani; Day, Taylor N.; Jones, Neil; Mazefsky, Carla A.

2017-01-01

Rumination has a large direct effect on psychopathology but has received relatively little attention in autism spectrum disorder despite the propensity to perseverate in this population. This study provided initial evidence that adolescents with autism spectrum disorder self-report more anger-focused rumination than typically developing controls,…

Mood Disorders in Mothers of Children on the Autism Spectrum Are Associated with Higher Functioning Autism

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Vasa, Roma A.; Anderson, Connie; Marvin, Alison R.; Rosenberg, Rebecca E.; Law, J. Kiely; Thorn, Julia; Sarphare, Geeta; Law, Paul A.

2012-01-01

Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD) than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires a...

Neurorehabilitation of Social Dysfunctions: A Model-based Neurofeedback Approach for Low and High-Functioning Autism

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Jaime A. Pineda

2014-08-01

Full Text Available Autism Spectrum Disorder (ASD is an increasingly prevalent condition with core deficits in the social domain. Understanding its neuroetiology is critical to providing insights into the relationship between neuroanatomy, physiology and social behaviors, including imitation learning, language, empathy, theory of mind, and even self-awareness. Equally important is the need to find ways to arrest its increasing prevalence and to ameliorate its symptoms. In this perspective, we highlight neurofeedback studies as viable treatment options for high-functioning as well as low-functioning children with ASD. Specifically, we focus on neurofeedback interventions combined with other kinds of behavioral conditioning to induce neuroplastic changes that can address the full spectrum of the autism phenotype.

Pharmacologic treatments for the behavioral symptoms associated with autism spectrum disorders across the lifespan

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Doyle, Carolyn A.; McDougle, Christopher J.

2012-01-01

This review outlines pharmacologic treatments for the behavioral symptoms associated with autism spectrum disorders (ASDs) in children, adolescents, and adults. Symptom domains include repetitive and stereotyped behaviors, irritability and aggression, hyperactivity and inattention, and social impairment. Medications covered include serotonin reuptake inhibitors (SRIs), mirtazapine, antipsychotics, psychostimulants, atomoxetine, α-2 agonists, D-cycloserine, and memantine. Overall, SRIs are less efficacious and more poorly tolerated in children with ASDs than in adults. Antipsychotics are the most efficacious drugs for the treatment of irritability in ASDs, and may be useful in the treatment of other symptoms. Psychostimulants demonstrate some benefit for the treatment of hyperactivity and inattention in individuals with ASDs, but are less efficacious and associated with more adverse effects compared with individuals with ADHD. D-cycloserine and memantine appear helpful in the treatment of social impairment, although further research is needed. PMID:23226952

Fundamental challenges for autism research: the science-practice gap, demarcating autism and the unsuccessful search for the neurobiological basis of autism.

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Verhoeff, Berend

2015-08-01

One of the central aims of autism research is to identify specific neurodevelopmental mechanisms that cause and explain the visible autistic signs and symptoms. In this short paper, I argue that the persistent search for autism-specific pathophysiologies has two fundamental difficulties. The first regards the growing gap between basic autism science and clinical practice. The second regards the difficulties with demarcating autism as a psychiatric condition. Instead of the unremitting search for the neurobiological basis of autism, I suggest that basic autism research should focus on experiences of impairment and distress, and on how these experiences relate to particular (autistic) behaviors in particular circumstances, regardless of whether we are dealing with an autism diagnosis or not.

Autism Spectrum Disorder (ASD)

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... within the category. These were autistic disorder ("classic" autism), Asperger syndrome (which usually involved milder symptoms, mostly related ... but not all, of the features of classic autism or Asperger syndrome). 2 Health care providers no longer use ...

Differential Relationships of Anxiety and Autism Symptoms on Social Skills in Young Boys with Fragile X Syndrome

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Reisinger, Debra L.; Roberts, Jane E.

2017-01-01

Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms,…

Callous unemotional traits, autism spectrum disorder symptoms and empathy in boys with oppositional defiant disorder or conduct disorder

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Pijper, Jarla; de Wied, Minet; van Rijn, Sophie; van Goozen, Stephanie; Swaab, Hanna; Meeus, W.H.J.

2016-01-01

This study examined additive and interactive effects of callous unemotional (CU) traits and autism spectrum disorders (ASD) symptoms in relation to trait empathy, in boys with oppositional defiant disorder (ODD) or conduct disorder (CD). Participants were 49 boys with ODD/CD, aged between 7-12

Recent Advances in the Pathogenesis of Syndromic Autisms

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A. Benvenuto

2009-01-01

Full Text Available Background. Current advances in genetic technology continue to expand the list of medical conditions associated with autism. Clinicians have to identify specific autistic-related syndromes, and to provide tailored counseling. The aim of this study is to elucidate recent advances in autism research that offer important clues into pathogenetic mechanisms of syndromic autism and relevant implications for clinical practice. Data Sources. The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” Results. Defined mutations, genetic syndromes, and metabolic diseases account for up to 20% of autistic patients. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in Fragile X-Syndrome and Tuberous Sclerosis Complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth, and synaptic/dendritic morphology. Conclusion. Metabolic testing may be appropriate if specific symptoms are present. High-resolution chromosome analysis may be recommended if a specific diagnosis is suspected because of obvious dysmorphisms. Identifying cryptic chromosomal abnormalities by whole genome microarray analysis can increase the understanding of the neurobiological pathways to autism.

Symptoms of Autism Spectrum Disorder (ASD) in individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): a systematic review

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Wolfenden, C.; Wittkowski, A.; Hare, Dougal

2017-01-01

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ...

Treatment of Autism Spectrum Disorder in Children and Adolescents

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DeFilippis, Melissa; Wagner, Karen Dineen

2016-01-01

Autism spectrum disorder is a diagnosis that includes significant social communication deficits/delays along with restricted patterns of interests and behaviors. The prevalence of this diagnosis has increased over the past few decades, and it is unclear whether this is solely attributable to the increased awareness of milder forms of the disorder among medical providers. The current treatment options for the core symptoms of autism are limited to psychosocial therapies, such as applied behavior analysis. Medications have been most effective in treating the associated behavioral symptoms of autism, though studies have examined potential benefits in some of the core symptoms of autism with certain medications, especially the repetitive behaviors often seen with this diagnosis. Risperidone and aripiprazole are currently the only medications FDA approved for symptoms associated with autism spectrum disorders, targeting the irritability often seen with this diagnosis. Children and adolescents with autism spectrum disorder appear to be more susceptible to adverse effects with medications; therefore, initiation with low doses and titrating very slowly is recommended. Some complementary alternative treatments have been researched as possible treatments in autism, though evidence supporting many of these is very limited. PMID:27738378

Association between Severity of Behavioral Phenotype and Comorbid Attention Deficit Hyperactivity Disorder Symptoms in Children with Autism Spectrum Disorders

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Rao, Patricia A.; Landa, Rebecca J.

2014-01-01

Autism spectrum disorder and attention deficit hyperactivity disorder are neurodevelopmental disorders that cannot be codiagnosed under existing diagnostic guidelines ("Diagnostic and Statistical Manual of the American Psychiatric Association," 4th ed., text rev.). However, reports are emerging that attention deficit hyperactivity…

New Interview and Observation Measures of the Broader Autism Phenotype: Description of Strategy and Reliability Findings for the Interview Measures.

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Parr, Jeremy R; De Jonge, Maretha V; Wallace, Simon; Pickles, Andrew; Rutter, Michael L; Le Couteur, Ann S; van Engeland, Herman; Wittemeyer, Kerstin; McConachie, Helen; Roge, Bernadette; Mantoulan, Carine; Pedersen, Lennart; Isager, Torben; Poustka, Fritz; Bolte, Sven; Bolton, Patrick; Weisblatt, Emma; Green, Jonathan; Papanikolaou, Katerina; Baird, Gillian; Bailey, Anthony J

2015-10-01

Clinical genetic studies confirm the broader autism phenotype (BAP) in some relatives of individuals with autism, but there are few standardized assessment measures. We developed three BAP measures (informant interview, self-report interview, and impression of interviewee observational scale) and describe the development strategy and findings from the interviews. International Molecular Genetic Study of Autism Consortium data were collected from families containing at least two individuals with autism. Comparison of the informant and self-report interviews was restricted to samples in which the interviews were undertaken by different researchers from that site (251 UK informants, 119 from the Netherlands). Researchers produced vignettes that were rated blind by others. Retest reliability was assessed in 45 participants. Agreement between live scoring and vignette ratings was very high. Retest stability for the interviews was high. Factor analysis indicated a first factor comprising social-communication items and rigidity (but not other repetitive domain items), and a second factor comprised mainly of reading and spelling impairments. Whole scale Cronbach's alphas were high for both interviews. The correlation between interviews for factor 1 was moderate (adult items 0.50; childhood items 0.43); Kappa values for between-interview agreement on individual items were mainly low. The correlations between individual items and total score were moderate. The inclusion of several factor 2 items lowered the overall Cronbach's alpha for the total set. Both interview measures showed good reliability and substantial stability over time, but the findings were better for factor 1 than factor 2. We recommend factor 1 scores be used for characterising the BAP. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.

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Daniela Brunner

Full Text Available Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development for autism is the lack of robust behavioral signatures predictive of clinical efficacy. To address this issue, we further characterized, in a uniform and rigorous way, mouse models of autism that are of interest because of their construct validity and wide availability to the scientific community. We implemented a broad behavioral battery that included but was not restricted to core autism domains, with the goal of identifying robust, reliable phenotypes amenable for further testing. Here we describe comprehensive findings from two known mouse models of autism, obtained at different developmental stages, using a systematic behavioral test battery combining standard tests as well as novel, quantitative, computer-vision based systems. The first mouse model recapitulates a deletion in human chromosome 16p11.2, found in 1% of individuals with autism. The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. Consistent with previous results, 16p11.2 heterozygous null mice, also known as Del(7Slx1b-Sept14Aam weighed less than wild type littermates displayed hyperactivity and no social deficits. Cntnap2 homozygous null mice were also hyperactive, froze less during testing, showed a mild gait phenotype and deficits in the three-chamber social preference test, although less robust than previously published. In the open field test with exposure to urine of an estrous female, however, the Cntnap2 null mice showed reduced vocalizations. In addition, Cntnap2 null mice performed slightly better in a cognitive procedural learning test. Although finding and replicating robust behavioral phenotypes in animal models is a challenging task, such functional readouts remain important in the development of

Association Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure

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Andrews, Derek S.; Gudbrandsen, Christina M.; Marquand, Andre F.; Ginestet, Cedric E.; Daly, Eileen M.; Murphy, Clodagh M.; Lai, Meng-Chuan; Lombardo, Michael V.; Ruigrok, Amber N. V.; Bullmore, Edward T.; Suckling, John; Williams, Steven C. R.; Baron-Cohen, Simon; Craig, Michael C.; Murphy, Declan G. M.

2017-01-01

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. Objectives To examine the probability of ASD as a function of normative sex-related phenotypic diversity in brain structure and to identify the patterns of sex-related neuroanatomical variability associated with low or high probability of ASD. Design, Setting, and Participants This study examined a cross-sectional sample of 98 right-handed, high-functioning adults with ASD and 98 matched neurotypical control individuals aged 18 to 42 years. A multivariate probabilistic classification approach was used to develop a predictive model of biological sex based on cortical thickness measures assessed via magnetic resonance imaging in neurotypical controls. This normative model was subsequently applied to individuals with ASD. The study dates were June 2005 to October 2009, and this analysis was conducted between June 2015 and July 2016. Main Outcomes and Measures Sample and population ASD probability estimates as a function of normative sex-related diversity in brain structure, as well as neuroanatomical patterns associated with low or high ASD probability in male individuals and female individuals. Results Among the 98 individuals with ASD, 49 were male and 49 female, with a mean (SD) age of 26.88 (7.18) years. Among the 98 controls, 51 were male and 47 female, with a mean (SD) age of 27.39 (6.44) years. The sample probability of ASD increased significantly with predictive probabilities for the male neuroanatomical brain phenotype. For

Quantitative Linkage for Autism Spectrum Disorders Symptoms in Attention-Deficit/Hyperactivity Disorder : Significant Locus on Chromosome 7q11

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Nijmeijer, Judith; Arias-Vasquez, Alejandro; Rommelse, Nanda N. J.; Altink, Marieke E.; Buschgens, Cathelijne J. M.; Fliers, Ellen A.; Franke, Barbara; Minderaa, Rudolf; Sergeant, Joseph A.; Buitelaar, Jan K.; Hoekstra, Pieter J.; Hartman, Catharina A.

We studied 261 ADHD probands and 354 of their siblings to assess quantitative trait loci associated with autism spectrum disorder symptoms (as measured by the Children's Social Behavior Questionnaire (CSBQ)) using a genome-wide linkage approach, followed by locus-wide association analysis. A

The effect of the video game Mindlight on anxiety symptoms in children with an Autism Spectrum Disorder [study protocol

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Wijnhoven, L.A.M.W.; Creemers, D.H.M.; Engels, R.C.M.E.; Granic, I.

2015-01-01

Background In the clinical setting, a large proportion of children with an autism spectrum disorder (ASD) experience anxiety symptoms. Because anxiety is an important cause of impairment for children with an ASD, it is necessary that effective anxiety interventions are implemented for these

Genetic basis of autism: is there a way forward?

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Eapen, Valsamma

2011-05-01

This paper outlines some of the key findings from genetic research carried out in the last 12-18 months, which indicate that autism spectrum disorder (ASD) is a complex disorder involving interactions between genetic, epigenetic and environmental factors. The current literature highlights the presence of genetic and phenotypic heterogeneity in ASD with a number of underlying pathogenetic mechanisms. In this regard, there are at least three phenotypic presentations with distinct genetic underpinnings: autism plus phenotype characterized by syndromic ASD caused by rare, single-gene disorders; broad autism phenotype caused by genetic variations in single or multiple genes, each of these variations being common and distributed continually in the general population, but resulting in varying clinical phenotypes when it reaches a certain threshold through complex gene-gene and gene-environment interactions; and severe and specific phenotype caused by 'de-novo' mutations in the patient or transmitted through asymptomatic carriers of such mutation. Understanding the neurobiological processes by which genotypes become phenotypes, along with the advances in developmental neuroscience and neuronal networks at the cellular and molecular level, is paving the way for translational research involving targeted interventions of affected molecular pathways and early intervention programs that promote normal brain responses to stimuli and alter the developmental trajectory.

Are There More Bowel Symptoms in Children with Autism Compared to Normal Children and Children with Other Developmental and Neurological Disorders?: A Case Control Study

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Smith, R. A.; Farnworth, H.; Wright, B.; Allgar, V.

2009-01-01

There is considerable controversy as to whether there is an association between bowel disorders and autism. Using a bowel symptom questionnaire we compared 51 children with autism spectrum disorder with control groups of 35 children from special school and 112 from mainstream school. There was a significant difference in the reporting of certain…

Social Communication and Theory of Mind in Boys with Autism and Fragile X Syndrome

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Molly eLosh

2012-08-01

Full Text Available Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome, a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to FMR1 in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (CGG repeats and percent methylation. These results point towards substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles.

Recent Research on the Etiologies of Autism.

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Fisher, Eileen; Van Dyke, Don C.; Sears, Lonnie; Matzen, Jane; Lin-Dyken, Deborah; McBrien, Dianne M.

1999-01-01

Reviews recent research on the etiologies of autism, including genetic research, anatomic and neuroimaging studies, topics in neurophysiology research (including serotonin, dopamine, and opiods), immunologic research, studies of autism phenotype, and electroencephalographic studies. It concludes that, as of yet, research has found no clear…

Therapies for Children With Autism Spectrum Disorder

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... With Autism Spectrum Disorder Therapies for Children With Autism Spectrum Disorder Consumer Summary September 23, 2014 Download PDF 692. ... Web page Understanding Your Child's Condition What is autism spectrum disorder (ASD)? ASD includes a range of behavioral symptoms. ...

Aminoglycoside antibiotics and autism: a speculative hypothesis

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Manev Hari

2001-10-01

Full Text Available Abstract Background Recently, it has been suspected that there is a relationship between therapy with some antibiotics and the onset of autism; but even more curious, some children benefited transiently from a subsequent treatment with a different antibiotic. Here, we speculate how aminoglycoside antibiotics might be associated with autism. Presentation We hypothesize that aminoglycoside antibiotics could a trigger the autism syndrome in susceptible infants by causing the stop codon readthrough, i.e., a misreading of the genetic code of a hypothetical critical gene, and/or b improve autism symptoms by correcting the premature stop codon mutation in a hypothetical polymorphic gene linked to autism. Testing Investigate, retrospectively, whether a link exists between aminoglycoside use (which is not extensive in children and the onset of autism symptoms (hypothesis "a", or between amino glycoside use and improvement of these symptoms (hypothesis "b". Whereas a prospective study to test hypothesis "a" is not ethically justifiable, a study could be designed to test hypothesis "b". Implications It should be stressed that at this stage no direct evidence supports our speculative hypothesis and that its main purpose is to initiate development of new ideas that, eventually, would improve our understanding of the pathobiology of autism.

Psychiatric Co-Occurring Symptoms and Disorders in Young, Middle-Aged, and Older Adults with Autism Spectrum Disorder

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Lever, Anne G.; Geurts, Hilde M.

2016-01-01

Although psychiatric problems are less prevalent in old age within the general population, it is largely unknown whether this extends to individuals with autism spectrum disorders (ASD). We examined psychiatric symptoms and disorders in young, middle-aged, and older adults with and without ASD (N[subscript max] = 344, age 19-79 years, IQ > 80).…

Autism Spectrum Disorders Associated with Chromosomal Abnormalities

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Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo

2010-01-01

Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several "monogenic" forms of autism have been…

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

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Weissman, Jacqueline R; Kelley, Richard I; Bauman, Margaret L; Cohen, Bruce H; Murray, Katherine F; Mitchell, Rebecca L; Kern, Rebecca L; Natowicz, Marvin R

2008-01-01

Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder. We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity. Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

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Jacqueline R Weissman

Full Text Available Previous reports indicate an association between autism spectrum disorders (ASD and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32% and unusual patterns of regression (40%. Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64% and complex III (20%. Two patients had rare mtDNA mutations of likely pathogenicity.Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.

Autism spectrum disorder profile in neurofibromatosis type I.

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Garg, Shruti; Plasschaert, Ellen; Descheemaeker, Mie-Jef; Huson, Susan; Borghgraef, Martine; Vogels, Annick; Evans, D Gareth; Legius, Eric; Green, Jonathan

2015-06-01

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4-16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills.

Risperidone for the core symptom domains of autism: results from the study by the autism network of the research units on pediatric psychopharmacology.

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McDougle, Christopher J; Scahill, Lawrence; Aman, Michael G; McCracken, James T; Tierney, Elaine; Davies, Mark; Arnold, L Eugene; Posey, David J; Martin, Andrès; Ghuman, Jaswinder K; Shah, Bhavik; Chuang, Shirley Z; Swiezy, Naomi B; Gonzalez, Nilda M; Hollway, Jill; Koenig, Kathleen; McGough, James J; Ritz, Louise; Vitiello, Benedetto

2005-06-01

Risperidone has been found efficacious for decreasing severe tantrums, aggression, and self-injurious behavior in children and adolescents with autistic disorder (autism). The authors report on whether risperidone improves the core symptoms of autism, social and communication impairment and repetitive and stereotyped behavior. The database from an 8-week double-blind, placebo-controlled trial (N=101) and 16-week open-label continuation study (N=63) of risperidone for children and adolescents with autism was used to test for drug effects on secondary outcome measures: scores on the Ritvo-Freeman Real Life Rating Scale, the Children's Yale-Brown Obsessive Compulsive Scale, and the maladaptive behavior domain of the Vineland Adaptive Behavior Scales. Compared to placebo, risperidone led to a significantly greater reduction in the overall score on the Ritvo-Freeman Real Life Rating Scale, as well as the scores on the subscales for sensory motor behaviors (subscale I), affectual reactions (subscale III), and sensory responses (subscale IV). No statistically significant difference was observed, however, on the subscale for social relatedness (subscale II) or language (subscale V). Risperidone also resulted in significantly greater reductions in scores on the Children's Yale-Brown Obsessive Compulsive Scale and Vineland maladaptive behavior domain. This pattern of treatment response was maintained for 6 months. Risperidone led to significant improvements in the restricted, repetitive, and stereotyped patterns of behavior, interests, and activities of autistic children but did not significantly change their deficit in social interaction and communication. Further research is necessary to develop effective treatments for the core social and communicative impairments of autism.

Gender differences in autism spectrum disorders: Divergence among specific core symptoms.

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Beggiato, Anita; Peyre, Hugo; Maruani, Anna; Scheid, Isabelle; Rastam, Maria; Amsellem, Frederique; Gillberg, Carina I; Leboyer, Marion; Bourgeron, Thomas; Gillberg, Christopher; Delorme, Richard

2017-04-01

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. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 680-689. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

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Schendel, Diana E.; Bresnahan, Michaeline; Carter, Kim W.; Francis, Richard W.; Gissler, Mika; Grønborg, Therese K.; Gross, Raz; Gunnes, Nina; Hornig, Mady; Hultman, Christina M.; Langridge, Amanda; Lauritsen, Marlene B.; Leonard, Helen; Parner, Erik T.; Reichenberg, Abraham; Sandin, Sven; Sourander, Andre; Stoltenberg, Camilla; Suominen, Auli; Surén, Pål; Susser, Ezra

2013-01-01

The International Collaboration for Autism Registry Epidemiology (iCARE) is the first multinational research consortium (Australia, Denmark, Finland, Israel, Norway, Sweden, USA) to promote research in autism geographical and temporal heterogeneity, phenotype, family and life course patterns, and etiology. iCARE devised solutions to challenges in…

Masculinization in Parents of Offspring With Autism Spectrum Disorders Could Be Involved in Comorbid ADHD Symptoms.

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Romero-Martínez, Ángel; Polderman, Tinca J C; González-Bono, Esperanza; Moya-Albiol, Luis

2017-09-01

People with autism spectrum disorders (ASD) often have comorbid ADHD symptoms. ASD and ADHD are both associated with high intrauterine testosterone (T) levels. This study aims to investigate whether masculinization predicts inattention symptoms in parents, and in their ASD-affected offspring. The sample consisted of 32 parents with ASD-affected children (13 male, 19 female) and 32 offspring individuals (28 male, 4 female). Masculinization of parents was measured by 2D:4D finger ratio, and current T levels. Inattention in both parents and in their offspring was measured with behavior questionnaires. The results indicated that masculinized 2D:4D explains inattentive ADHD symptoms in ASD parents and in their offspring. These predictions are mediated by T and inattention symptoms of ASD parents, respectively. These findings suggest the existence of a masculinized endophenotype in ASD parents, which may be characterized by high attentional sensitivity to T effects.

Characteristics of autism spectrum disorder in anorexia nervosa: A naturalistic study in an inpatient treatment programme.

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Tchanturia, Kate; Adamson, James; Leppanen, Jenni; Westwood, Heather

2017-11-01

Previous research has demonstrated links between anorexia nervosa and autism spectrum disorder however, few studies have examined the possible impact of symptoms of autism spectrum disorder on clinical outcomes in anorexia nervosa. The aim of this study was to examine the association between symptoms of autism spectrum disorder and eating disorders, and other psychopathology during the course of inpatient treatment in individuals with anorexia nervosa. Participants with anorexia nervosa (n = 171) completed questionnaires exploring eating disorder psychopathology, symptoms of depression and anxiety, and everyday functioning at both admission and discharge. Characteristics associated with autism spectrum disorder were assessed using the Autism Spectrum Quotient, short version. Autism spectrum disorder symptoms were significantly positively correlated with eating disorder psychopathology, work and social functioning, and symptoms of depression and anxiety, but not with body mass index. Autism Spectrum Quotient, short version scores remained relatively stable from admission to discharge but there was a small, significant reduction in scores. There was no interaction between time and Autism Spectrum Quotient, short version scores on clinical symptom change. In anorexia nervosa, autism spectrum disorder symptoms appear to be associated with a more severe clinical presentation on admission to inpatient care. Autism spectrum disorder symptoms as assessed by self-report measures may be exacerbated by other mental health psychopathology, which warrants further investigation.

Autism from a cognitive-pragmatic perspective

OpenAIRE

Reboul , Anne; Manificat , Sabine; Foudon , Nadège

2012-01-01

International audience; Autism is one of a group of three neuro-developmental disorders including, in addition to autism itself, Asperger Syndrome and a fairly heterogeneous group of patients who present some but not all of the symptoms of autism (see below, section 2.2). Asperger Syndrome and autism being the best described pathologies, notably in terms of language and language development, they will be the focus of our attention in what follows. Autism has been described as being to pragmat...

Social Communication and Theory of Mind in Boys with Autism and Fragile X Syndrome

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Losh, Molly; Martin, Gary E.; Klusek, Jessica; Hogan-Brown, Abigail L.; Sideris, John

2012-01-01

Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles. PMID:22934085

Social communication and theory of mind in boys with autism and fragile x syndrome.

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Losh, Molly; Martin, Gary E; Klusek, Jessica; Hogan-Brown, Abigail L; Sideris, John

2012-01-01

Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles.

AUTISM. Unraveling a pathway to autism

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Burbach, J Peter H

2016-01-01

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders with shared symptoms in the area of communication and language, restricted interests, and stereotyped and social behaviors. Causes lie in perturbations of brain development, which can be manifold, but genetic

Improvement of autism spectrum disorder symptoms in three children by using gastrin-releasing peptide,

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Michele Michelin Becker

2016-06-01

Full Text Available Abstract Objective: To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum disorder. Methods: Case series study with the intravenous administration of gastrin-releasing peptide in the dose of 160 pmol/kg for four consecutive days. To evaluate the results, parental impressions the Childhood Autism Rating Scale (CARS and the Clinical Global Impression (CGI Scale. Each child underwent a new peptide cycle after two weeks. The children were followed for four weeks after the end of the infusions. Results: The gastrin-releasing peptide was well tolerated and no child had adverse effects. Two children had improved social interaction, with a slight improvement in joint attention and the interaction initiatives. Two showed reduction of stereotypes and improvement in verbal language. One child lost his compulsion to bathe, an effect that lasted two weeks after each infusion cycle. Average reduction in CARS score was 2.8 points. CGI was "minimally better" in two children and "much better" in one. Conclusions: This study suggests that the gastrin-releasing peptide is safe and may be effective in improving key symptoms of autism spectrum disorder, but its results should be interpreted with caution. Controlled clinical trials-randomized, double-blinded, and with more children-are needed to better evaluate the possible therapeutic effects of gastrin-releasing peptide in autism.

Hedonic capacity in the broader autism phenotype: Should social anhedonia be considered a characteristic feature?

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Derek eNovacek

2016-05-01

Full Text Available Impairments in social motivational processes may partially explain the differences in social interaction seen among individuals with autism spectrum disorder (ASD. The social motivation hypothesis would predict an association between reduced hedonic capacity and ASD. However, to date, findings have been mixed regarding hedonic deficits among individuals with ASD; adults report lower levels of both social and physical pleasure whereas adolescents only report experiencing lower social pleasure. Moreover, previous studies examining the association between anhedonia and autistic traits have not used measures of hedonic response or taken temporal aspects of pleasure into account. The present study examined associations between autistic traits and the experience of pleasure using a nonclinical sample of young adults to further clarify the nature of hedonic deficits in the broader autism phenotype (BAP. Results revealed that autistic traits were negatively associated with both the experience of social pleasure as well as general pleasure, although the association was stronger for social pleasure. Regression analyses revealed that reduced social pleasure was a better predictor of autistic traits than general pleasure. Together these findings suggest that reduced social hedonic capacity is associated with autistic traits in the general population and should be included in conceptualizations of the BAP.

Parent-reported and clinician-observed autism spectrum disorder (ASD) symptoms in children with attention deficit/hyperactivity disorder (ADHD): implications for practice under DSM-5.

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Grzadzinski, Rebecca; Dick, Catherine; Lord, Catherine; Bishop, Somer

2016-01-01

Children with attention deficit/hyperactivity disorder (ADHD) often present with social difficulties, though the extent to which these clearly overlap with symptoms of autism spectrum disorder (ASD) is not well understood. We explored parent-reported and directly-observed ASD symptoms on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) in children referred to ASD-specialty clinics who received diagnoses of either ADHD (n = 48) or ASD (n = 164). Of the ADHD sample, 21 % met ASD cut-offs on the ADOS and 30 % met ASD cut-offs on all domains of the ADI-R. Four social communication ADOS items (Quality of Social Overtures, Unusual Eye Contact, Facial Expressions Directed to Examiner, and Amount of Reciprocal Social Communication) adequately differentiated the groups while none of the items on the ADI-R met the criteria for adequate discrimination. Results of this work highlight the challenges that clinicians and researchers face when distinguishing ASD from other disorders in verbally fluent, school-age children.

Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder

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Smith, Leann E.; Seltzer, Marsha Mailick; Greenberg, Jan S.

2012-01-01

Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in…

Targeted Treatments in Autism and Fragile X Syndrome

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Gurkan, C. Kagan; Hagerman, Randi J.

2012-01-01

Autism is a neurodevelopmental disorder consisting of a constellation of symptoms that sometimes occur as part of a complex disorder characterized by impairments in social interaction, communication and behavioral domains. It is a highly disabling disorder and there is a need for treatment targeting the core symptoms. Although autism is accepted…

Perspective-taking abilities in the balance between autism tendencies and psychosis proneness.

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Abu-Akel, Ahmad M; Wood, Stephen J; Hansen, Peter C; Apperly, Ian A

2015-06-07

Difficulties with the ability to appreciate the perspective of others (mentalizing) is central to both autism and schizophrenia spectrum disorders. While the disorders are diagnostically independent, they can co-occur in the same individual. The effect of such co-morbidity is hypothesized to worsen mentalizing abilities. The recent influential 'diametric brain theory', however, suggests that the disorders are etiologically and phenotypically diametrical, predicting opposing effects on one's mentalizing abilities. To test these contrasting hypotheses, we evaluated the effect of psychosis and autism tendencies on the perspective-taking (PT) abilities of 201 neurotypical adults, on the assumption that autism tendencies and psychosis proneness are heritable dimensions of normal variation. We show that while both autism tendencies and psychosis proneness induce PT errors, their interaction reduced these errors. Our study is, to our knowledge, the first to observe that co-occurring autistic and psychotic traits can exert opposing influences on performance, producing a normalizing effect possibly by way of their diametrical effects on socio-cognitive abilities. This advances the notion that some individuals may, to some extent, be buffered against developing either illness or present fewer symptoms owing to a balanced expression of autistic and psychosis liability. © 2015 The Author(s) Published by the Royal Society. All rights reserved.

Parental Attributions for the Behavior Problems of Children and Adolescents With Autism Spectrum Disorders

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Hartley, Sigan L.; Schaidle, Emily M.; Burnson, Cynthia F.

2014-01-01

Objective The authors examined parental attributions for child behavior problems in 63 married couples of children and adolescents (aged 3–20 years) with autism spectrum disorders (ASDs). Both child-referent attributions (i.e., beliefs about causes related to the child or adolescent) and parent-referent attributions (i.e., beliefs about causes related to the parent) were examined along the dimensions of locus, stability, and controllability. Parent and child/adolescent factors related to parental attributions were identified, and the associations between parental attributions and parenting burden were explored. Method Mothers and fathers independently completed self-reported measures of parental attributions, parenting burden, and child behavior problems. Couples jointly reported on their son or daughter’s severity of autism symptoms, intellectual disability status, age, and gender. Results Parents tended to attribute the behavior problems of their child/adolescent with an ASD to characteristics that were not only internal to and stable in the child/adolescent but also controllable by the child/adolescent. Mothers were more likely to attribute their son or daughter’s behavior problems to characteristics that were less internal to and less stable in the child/adolescent with an ASD than were fathers. In addition, parents with a higher level of symptoms of the broader autism phenotype, parents of younger children, and parents of children/adolescents with intellectual disability, a higher severity of autism symptoms, and a higher severity of overall behavior problems were more likely to attribute their son or daughter’s behavior problems to characteristics that were more internal to and stable in the child/adolescent and factors that were less controllable by the child/adolescent. Parental attributions were related to parents’ level of parenting burden. Implications Findings have implications for designing appropriate interventions and services for families

Parental attributions for the behavior problems of children and adolescents with autism spectrum disorders.

Science.gov (United States)

Hartley, Sigan L; Schaidle, Emily M; Burnson, Cynthia F

2013-01-01

The authors examined parental attributions for child behavior problems in 63 married couples of children and adolescents (aged 3-20 years) with autism spectrum disorders (ASDs). Both child-referent attributions (i.e., beliefs about causes related to the child or adolescent) and parent-referent attributions (i.e., beliefs about causes related to the parent) were examined along the dimensions of locus, stability, and controllability. Parent and child/adolescent factors related to parental attributions were identified, and the associations between parental attributions and parenting burden were explored. Mothers and fathers independently completed self-reported measures of parental attributions, parenting burden, and child behavior problems. Couples jointly reported on their son or daughter's severity of autism symptoms, intellectual disability status, age, and gender. Parents tended to attribute the behavior problems of their child/adolescent with an ASD to characteristics that were not only internal to and stable in the child/adolescent but also controllable by the child/adolescent. Mothers were more likely to attribute their son or daughter's behavior problems to characteristics that were less internal to and less stable in the child/adolescent with an ASD than were fathers. In addition, parents with a higher level of symptoms of the broader autism phenotype, parents of younger children, and parents of children/adolescents with intellectual disability, a higher severity of autism symptoms, and a higher severity of overall behavior problems were more likely to attribute their son or daughter's behavior problems to characteristics that were more internal to and stable in the child/adolescent and factors that were less controllable by the child/adolescent. Parental attributions were related to parents' level of parenting burden. Findings have implications for designing appropriate interventions and services for families of children and adolescents with ASDs.

Specificity of executive function and theory of mind performance in relation to attention-deficit/hyperactivity symptoms in autism spectrum disorders.

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Lukito, Steve; Jones, Catherine R G; Pickles, Andrew; Baird, Gillian; Happé, Francesca; Charman, Tony; Simonoff, Emily

2017-01-01

Individuals with autism spectrum disorder (ASD) frequently demonstrate symptoms of attention-deficit/hyperactivity disorder (ADHD). Previous findings in children with ASD have suggested that these symptoms are associated with an impairment in executive function (EF) abilities. However, studies rarely considered this association within a single framework that controls for other related factors such as Theory of Mind (ToM) abilities and ASD symptoms. We used structural equation modeling to explore the relations among EF, ToM, and symptoms of ASD and ADHD, using data from a population-based sample of 100 adolescents with ASD and full-scale IQ ≥ 50 (the Special Needs and Autism Project (SNAP) cohort). The study used a multi-measure and multi-informant approach, where performance of inhibition, planning, switching, and working memory tasks indexed EF and performance on tasks involving mentalizing indexed ToM. Measures of ASD and ADHD symptoms included parent and teacher reports and direct observation of the children. Shared source of symptom reporting was accounted for with a parental rating latent factor indexed by symptom measures reported by parents. Impairments in EF abilities were specifically associated with ADHD symptoms while impaired ToM was specifically associated with ASD symptoms, when accounting for the associations of each cognitive domain with the other factors. ASD and ADHD symptom latent factors were also correlated, but this association became nonsignificant once the shared source of reporting from parents was accounted for and within a model that also controlled for the correlated pathway between EF and ToM factors. The specific relations between the cognitive domains and behavioral symptoms remained even after controlling for IQ. In this ASD sample, symptoms of ADHD and ASD are underpinned by separate cognitive domains. The association between EF and ToM impairments is a likely partial explanation for the co-occurrence of ADHD symptoms in ASD

Mood Disorders in Mothers of Children on the Autism Spectrum Are Associated with Higher Functioning Autism

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Roma A. Vasa

2012-01-01

Full Text Available Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires addressing their child’s ASD as well as their own mood disorder history. In multivariate logistic regression models of ASD diagnoses, the odds of an Asperger disorder versus autistic disorder diagnosis were higher among those children whose mothers had a lifetime history of bipolar disorder (OR 2.11, CI 1.20, 3.69 or depression (OR 1.62, CI 1.19, 2.19. Further, maternal mood disorder onset before first pregnancy was associated with higher odds (OR 2.35, CI 1.48, 3.73 of an Asperger versus autism diagnosis among this sample of children with ASD. These data suggest that differences in maternal mood disorder history may be associated with ASD phenotype in offspring.

Consensus Paper: Pathological Role of the Cerebellum in Autism

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Fatemi, S. Hossein; Aldinger, Kimberly A.; Ashwood, Paul; Bauman, Margaret L.; Blaha, Charles D.; Blatt, Gene J.; Chauhan, Abha; Chauhan, Ved; Dager, Stephen R.; Dickson, Price E.; Estes, Annette M.; Goldowitz, Dan; Heck, Detlef H.; Kemper, Thomas L.; King, Bryan H.; Martin, Loren A.; Millen, Kathleen J.; Mittleman, Guy; Mosconi, Matthew W.; Persico, Antonio M.; Sweeney, John A.; Webb, Sara J.; Welsh, John P.

2013-01-01

There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation. PMID:22370873

Consensus paper: pathological role of the cerebellum in autism.

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Fatemi, S Hossein; Aldinger, Kimberly A; Ashwood, Paul; Bauman, Margaret L; Blaha, Charles D; Blatt, Gene J; Chauhan, Abha; Chauhan, Ved; Dager, Stephen R; Dickson, Price E; Estes, Annette M; Goldowitz, Dan; Heck, Detlef H; Kemper, Thomas L; King, Bryan H; Martin, Loren A; Millen, Kathleen J; Mittleman, Guy; Mosconi, Matthew W; Persico, Antonio M; Sweeney, John A; Webb, Sara J; Welsh, John P

2012-09-01

There has been significant advancement in various aspects of scientific knowledge concerning the role of cerebellum in the etiopathogenesis of autism. In the current consensus paper, we will observe the diversity of opinions regarding the involvement of this important site in the pathology of autism. Recent emergent findings in literature related to cerebellar involvement in autism are discussed, including: cerebellar pathology, cerebellar imaging and symptom expression in autism, cerebellar genetics, cerebellar immune function, oxidative stress and mitochondrial dysfunction, GABAergic and glutamatergic systems, cholinergic, dopaminergic, serotonergic, and oxytocin-related changes in autism, motor control and cognitive deficits, cerebellar coordination of movements and cognition, gene-environment interactions, therapeutics in autism, and relevant animal models of autism. Points of consensus include presence of abnormal cerebellar anatomy, abnormal neurotransmitter systems, oxidative stress, cerebellar motor and cognitive deficits, and neuroinflammation in subjects with autism. Undefined areas or areas requiring further investigation include lack of treatment options for core symptoms of autism, vermal hypoplasia, and other vermal abnormalities as a consistent feature of autism, mechanisms underlying cerebellar contributions to cognition, and unknown mechanisms underlying neuroinflammation.

The Autism Mental Status Exam: Sensitivity and Specificity Using DSM-5 Criteria for Autism Spectrum Disorder in Verbally Fluent Adults

Science.gov (United States)

Grodberg, David; Weinger, Paige M.; Halpern, Danielle; Parides, Michael; Kolevzon, Alexander; Buxbaum, Joseph D.

2014-01-01

The phenotypic heterogeneity of adults suspected of autism spectrum disorder (ASD) requires a standardized diagnostic approach that is feasible in all clinical settings. The autism mental status exam (AMSE) is an eight-item observational assessment that structures the observation and documentation of social, communicative and behavioral signs and…

The Influence of Parental and Offspring Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) Symptoms on Family Climate

NARCIS (Netherlands)

van Steijn, Daphne J.; Oerlemans, Anoek M.; van Aken, Marcel A. G.; Buitelaar, Jan K.; Rommelse, Nanda N. J.

There is a lack of knowledge of the influence of parental and offspring autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) symptoms on the quality of family climate. The number of affected children may play an important moderating role. 103 Families were recruited

The Influence of Parental and Offspring Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) Symptoms on Family Climate

NARCIS (Netherlands)

van Steijn, Daphne J.; Oerlemans, Anoek M.; van Aken, Marcel A G; Buitelaar, Jan K.; Rommelse, Nanda N J

2015-01-01

There is a lack of knowledge of the influence of parental and offspring autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) symptoms on the quality of family climate. The number of affected children may play an important moderating role. 103 Families were recruited

Callous unemotional traits, autism spectrum disorder symptoms and empathy in boys with oppositional defiant disorder or conduct disorder.

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Pijper, Jarla; de Wied, Minet; van Rijn, Sophie; van Goozen, Stephanie; Swaab, Hanna; Meeus, Wim

2016-11-30

This study examined additive and interactive effects of callous unemotional (CU) traits and autism spectrum disorders (ASD) symptoms in relation to trait empathy, in boys with oppositional defiant disorder (ODD) or conduct disorder (CD). Participants were 49 boys with ODD/CD, aged between 7-12 years. Boys completed a questionnaire measure of empathic sadness and a broader questionnaire measure of affective and cognitive empathy. Parents and teachers reported on CU traits, and parents reported on ASD symptoms. In agreement with predictions, results reveal a negative association between CU traits and empathic sadness, particularly strong for ODD/CD boys with low levels of ASD symptoms. Results also reveal a negative association between ASD symptoms and cognitive empathy. Findings suggest that CU traits and ASD symptoms are associated with distinct empathy deficits with poor empathic sadness being more typical of CU traits than ASD symptoms. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Quantitative Linkage for Autism Spectrum Disorders Symptoms in Attention-Deficit/Hyperactivity Disorder: Significant Locus on Chromosome 7q11

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Nijmeijer, Judith S.; Arias-Vásquez, Alejandro; Rommelse, Nanda N.; Altink, Marieke E.; Buschgens, Cathelijne J.; Fliers, Ellen A.; Franke, Barbara; Minderaa, Ruud B.; Sergeant, Joseph A.; Buitelaar, Jan K.; Hoekstra, Pieter J.; Hartman, Catharina A.

2014-01-01

We studied 261 ADHD probands and 354 of their siblings to assess quantitative trait loci associated with autism spectrum disorder symptoms (as measured by the Children's Social Behavior Questionnaire (CSBQ) using a genome-wide linkage approach, followed by locus-wide association analysis. A genome-wide significant locus for the CSBQ subscale…

Phenotypic expression of autoimmune autistic disorder (AAD): a major subset of autism.

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Singh, Vijendra K

2009-01-01

Autism causes incapacitating neurologic problems in children that last a lifetime. The author of this article previously hypothesized that autism may be caused by autoimmunity to the brain, possibly triggered by a viral infection. This article is a summary of laboratory findings to date plus new data in support of an autoimmune pathogenesis for autism. Autoimmune markers were analyzed in the sera of autistic and normal children, but the cerebrospinal fluid (CSF) of some autistic children was also analyzed. Laboratory procedures included enzyme-linked immunosorbent assay and protein immunoblotting assay. Autoimmunity was demonstrated by the presence of brain autoantibodies, abnormal viral serology, brain and viral antibodies in CSF, a positive correlation between brain autoantibodies and viral serology, elevated levels of proinflammatory cytokines and acute-phase reactants, and a positive response to immunotherapy. Many autistic children harbored brain myelin basic protein autoantibodies and elevated levels of antibodies to measles virus and measles-mumps-rubella (MMR) vaccine. Measles might be etiologically linked to autism because measles and MMR antibodies (a viral marker) correlated positively to brain autoantibodies (an autoimmune marker)--salient features that characterize autoimmune pathology in autism. Autistic children also showed elevated levels of acute-phase reactants--a marker of systemic inflammation. The scientific evidence is quite credible for our autoimmune hypothesis, leading to the identification of autoimmune autistic disorder (AAD) as a major subset of autism. AAD can be identified by immune tests to determine immune problems before administering immunotherapy. The author has advanced a speculative neuroautoimmune (NAI) model for autism, in which virus-induced autoimmunity is a key player. The latter should be targeted by immunotherapy to help children with autism.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

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Nakamine, Alisa; Ouchanov, Leonid; Jiménez, Patricia; Manghi, Elina R; Esquivel, Marcela; Monge, Silvia; Fallas, Marietha; Burton, Barbara K; Szomju, Barbara; Elsea, Sarah H; Marshall, Christian R; Scherer, Stephen W; McInnes, L Alison

2008-03-01

Duplications of 17(p11.2p11.2) have been associated with various behavioral manifestations including attention deficits, obsessive-compulsive symptoms, autistic traits, and language delay. We are conducting a genetic study of autism and are screening all cases for submicroscopic chromosomal abnormalities, in addition to standard karyotyping, and fragile X testing. Using array-based comparative genomic hybridization analysis of data from the Affymetrix GeneChip(R) Human Mapping Array set, we detected a duplication of approximately 3.3 Mb on chromosome 17p11.2 in a male child with autism and severe expressive language delay. The duplication was confirmed by measuring the copy number of genomic DNA using quantitative polymerase chain reaction. Gene expression analyses revealed increased expression of three candidate genes for the Smith-Magenis neurobehavioral phenotype, RAI1, DRG2, and RASD1, in transformed lymphocytes from Case 81A, suggesting gene dosage effects. Our results add to a growing body of evidence suggesting that duplications of 17(p11.2p11.2) result in language delay as well as autism and related phenotypes. As Smith-Magenis syndrome is also associated with language delay, a gene involved in acquisition of language may lie within this interval. Whether a parent of origin effect, gender of the case, the presence of allelic variation, or changes in expression of genes outside the breakpoints influence the resultant phenotype remains to be determined. (c) 2007 Wiley-Liss, Inc.

Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities.

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Wöhr, M; Orduz, D; Gregory, P; Moreno, H; Khan, U; Vörckel, K J; Wolfer, D P; Welzl, H; Gall, D; Schiffmann, S N; Schwaller, B

2015-03-10

Gene mutations and gene copy number variants are associated with autism spectrum disorders (ASDs). Affected gene products are often part of signaling networks implicated in synapse formation and/or function leading to alterations in the excitation/inhibition (E/I) balance. Although the network of parvalbumin (PV)-expressing interneurons has gained particular attention in ASD, little is known on PV's putative role with respect to ASD. Genetic mouse models represent powerful translational tools for studying the role of genetic and neurobiological factors underlying ASD. Here, we report that PV knockout mice (PV(-/-)) display behavioral phenotypes with relevance to all three core symptoms present in human ASD patients: abnormal reciprocal social interactions, impairments in communication and repetitive and stereotyped patterns of behavior. PV-depleted mice also showed several signs of ASD-associated comorbidities, such as reduced pain sensitivity and startle responses yet increased seizure susceptibility, whereas no evidence for behavioral phenotypes with relevance to anxiety, depression and schizophrenia was obtained. Reduced social interactions and communication were also observed in heterozygous (PV(+/-)) mice characterized by lower PV expression levels, indicating that merely a decrease in PV levels might be sufficient to elicit core ASD-like deficits. Structural magnetic resonance imaging measurements in PV(-/-) and PV(+/-) mice further revealed ASD-associated developmental neuroanatomical changes, including transient cortical hypertrophy and cerebellar hypoplasia. Electrophysiological experiments finally demonstrated that the E/I balance in these mice is altered by modification of both inhibitory and excitatory synaptic transmission. On the basis of the reported changes in PV expression patterns in several, mostly genetic rodent models of ASD, we propose that in these models downregulation of PV might represent one of the points of convergence, thus providing a

Awareness of autism amongst primary school teachers in Yenagoa ...

African Journals Online (AJOL)

Abstract. Background: Autism is a chronic neuro-developmental disorder and teachers of pupils with autism require a basic understanding of the disorder. Objective: To determine the awareness of autism amongst primary school teachers and to find out pupils with symptoms of Autism Spectrum Disorder in Primary schools ...

Autism Spectrum Disorder and Mitochondrial Disease

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... Search Form Controls Cancel Submit Search the CDC Autism Spectrum Disorder (ASD) Note: Javascript is disabled or is not ... with a mitochondrial disease: may also have an autism spectrum disorder, may have some of the symptoms/signs of ...

Association of Rigid-Compulsive Behavior with Functional Constipation in Autism Spectrum Disorder

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Marler, Sarah; Ferguson, Bradley J.; Lee, Evon Batey; Peters, Brittany; Williams, Kent C.; McDonnell, Erin; Macklin, Eric A.; Levitt, Pat; Margolis, Kara Gross; Beversdorf, David Q.; Veenstra-VanderWeele, Jeremy

2017-01-01

Based upon checklist data from the Autism Speaks Autism Treatment Network, we hypothesized that functional constipation (FC) would be associated with rigid-compulsive behavior in children with autism spectrum disorder (ASD). We used the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III to assess FC symptoms in 108 children with ASD. As…

Outcomes in Adult Life among Siblings of Individuals with Autism

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Howlin, Patricia; Moss, Philippa; Savage, Sarah; Bolton, Patrick; Rutter, Michael

2015-01-01

Little is known about adult siblings of individuals with autism. We report on cognitive, social and mental health outcomes in 87 adult siblings (mean age 39 years). When younger all had been assessed either as being "unaffected" by autism (n = 69) or as meeting criteria for the "Broader Autism Phenotype" (BAP, n = 18). As…

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study

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Jeffrey A. Bennett

2017-02-01

Full Text Available Prader-Willi syndrome (PWS, a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2, the Social Communication Questionnaire (SCQ, Social Responsiveness Scale-2 (SRS-2, Social Skills Improvement System-Rating Scales (SSIS-RS, and the Vineland Adaptive Behavioral Scales-II (VABS-II. General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL and eight uniparental disomy (UPD (with a total of 6 female UPD cases. Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS and observational assessment (ADOS-2 was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study.

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Bennett, Jeffrey A; Hodgetts, Sandra; Mackenzie, Michelle L; Haqq, Andrea M; Zwaigenbaum, Lonnie

2017-02-28

Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

Improvement of autism spectrum disorder symptoms in three children by using gastrin-releasing peptide.

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Becker, Michele Michelin; Bosa, Cleonice; Oliveira-Freitas, Vera Lorentz; Goldim, José Roberto; Ohlweiler, Lygia; Roesler, Rafael; Schwartsmann, Gilberto; Riesgo, Rudimar Dos Santos

2016-01-01

To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum disorder. Case series study with the intravenous administration of gastrin-releasing peptide in the dose of 160pmol/kg for four consecutive days. To evaluate the results, parental impressions the Childhood Autism Rating Scale (CARS) and the Clinical Global Impression (CGI) Scale. Each child underwent a new peptide cycle after two weeks. The children were followed for four weeks after the end of the infusions. The gastrin-releasing peptide was well tolerated and no child had adverse effects. Two children had improved social interaction, with a slight improvement in joint attention and the interaction initiatives. Two showed reduction of stereotypes and improvement in verbal language. One child lost his compulsion to bathe, an effect that lasted two weeks after each infusion cycle. Average reduction in CARS score was 2.8 points. CGI was "minimally better" in two children and "much better" in one. This study suggests that the gastrin-releasing peptide is safe and may be effective in improving key symptoms of autism spectrum disorder, but its results should be interpreted with caution. Controlled clinical trials-randomized, double-blinded, and with more children-are needed to better evaluate the possible therapeutic effects of gastrin-releasing peptide in autism. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Parenting stress as an indirect pathway to mental health concerns among mothers of children with autism spectrum disorder.

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Tomeny, Theodore S

2017-10-01

The link between autism spectrum disorder symptoms and maternal stress has been well established, yet many mothers remain resilient to more severe psychopathology. For the current online study, 111 mothers of a child with autism spectrum disorder completed questionnaires about their child's symptoms, their own stress related to parenting, and any psychopathology symptoms they were experiencing. Autism spectrum disorder symptom severity was positively related to both parenting stress and maternal psychopathology symptoms. Furthermore, parenting stress mediated the relation between autism spectrum disorder symptom severity and maternal psychopathology symptoms. These results provide evidence for a pathway through which psychopathology may develop among mothers of children with autism spectrum disorder and a potential point of intervention for clinicians serving this population.

The Broad Autism (EndoPhenotype: Neurostructural And Neurofunctional Correlates In Parents Of Individuals With Autism Spectrum Disorders

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Lucia Billeci

2016-07-01

Full Text Available Autism Spectrum Disorders (ASD are a set of neurodevelopmental disorders with an early-onset and a strong genetic component in their pathogenesis. According to genetic and epidemiological data, ASD relatives present personality traits similar to, but not as severe as the defining features of ASD, which have been indicated as the Broader Autism Phenotype (BAP. BAP features seem to be more prevalent in first-degree relatives of individuals with ASD than in the general population. Characterizing brain profiles of relatives of autistic probands may help to understand ASD endophenotype. The aim of this review was to provide an up-to-date overview of research findings on the neurostructural and neurofunctional substrates in parents of individuals with ASD (pASD. The primary hypothesis was that, like for the behavioral profile, the pASD express an intermediate neurobiological pattern between ASD individuals and healthy controls.The 13 reviewed studies evaluated structural magnetic resonance imaging (MRI brain volumes, chemical signals using magnetic resonance spectroscopy (MRS, task-related functional activation by functional magnetic resonance imaging (fMRI, electroencephalography (EEG, or magnetoencephalography (MEG in pASD. The studies showed that pASD are generally different from healthy controls at a structural and functional level despite often not behaviorally impaired. More atypicalities in neural patterns of pASD seem to be associated with higher scores at BAP assessment. Some of the observed atypicalities are the same of the ASD probands. In addition, the pattern of neural correlates in pASD resembles that of adult individuals with ASD, or it is specific, possibly due to a compensatory mechanism are the same as those detected in ASD subjects. Future studies should ideally include a group of pASD and HC with their ASD and non-ASD probands respectively. They should subgrouping the pASD according to the BAP scores, considering gender as a

Brief Report: The Autism Mental Status Examination--Development of a Brief Autism-Focused Exam

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Grodberg, David; Weinger, Paige M.; Kolevzon, Alexander; Soorya, Latha; Buxbaum, Joseph D.

2012-01-01

The Autism Mental Status Examination (AMSE) described here is an eight-item observational assessment that prompts the observation and recording of signs and symptoms of autism spectrum disorders (ASD). The AMSE is intended to take place seamlessly in the context of a clinical exam and produces a total score. Subjects were independently…

The transgenerational inheritance of autism-like phenotypes in mice exposed to valproic acid during pregnancy.

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Choi, Chang Soon; Gonzales, Edson Luck; Kim, Ki Chan; Yang, Sung Min; Kim, Ji-Woon; Mabunga, Darine Froy; Cheong, Jae Hoon; Han, Seol-Heui; Bahn, Geon Ho; Shin, Chan Young

2016-11-07

Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder in which various genetic and environmental factors are believed to underlie its development. Recently, epigenetics has been suggested as a novel concept for ASD aetiology with a proposition that epigenetic marks can be transgenerationally inherited. Based on this assumption of epigenetics, we investigated the transgenerational inheritance of ASD-like behaviours and their related synaptic changes in the VPA animal model of ASD. The first generation (F1) VPA-exposed offspring exhibited autistic-like impaired sociability and increased marble burying. They also showed increased seizure susceptibility, hyperactivity and decreased anxiety. We mated the VPA-exposed F1 male offspring with naïve females to produce the second generation (F2), and then similarly mated the F2 to deliver the third generation (F3). Remarkably, the autism-like behavioural phenotypes found in F1 persisted to the F2 and F3. Additionally, the frontal cortices of F1 and F3 showed some imbalanced expressions of excitatory/inhibitory synaptic markers, suggesting a transgenerational epigenetic inheritance. These results open the idea that E/I imbalance and ASD-like behavioural changes induced by environmental insults in mice can be epigenetically transmitted, at least, to the third generation. This study could help explain the unprecedented increase in ASD prevalence.

The Genetic Overlap of Attention-Deficit/Hyperactivity Disorder and Autistic-like Traits: an Investigation of Individual Symptom Scales and Cognitive markers.

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Pinto, Rebecca; Rijsdijk, Fruhling; Ronald, Angelica; Asherson, Philip; Kuntsi, Jonna

2016-02-01

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs) frequently co-occur. However, due to previous exclusionary diagnostic criteria, little is known about the underlying causes of this covariation. Twin studies assessing ADHD symptoms and autistic-like traits (ALTs) suggest substantial genetic overlap, but have largely failed to take into account the genetic heterogeneity of symptom subscales. This study aimed to clarify the phenotypic and genetic relations between ADHD and ASD by distinguishing between symptom subscales that characterise the two disorders. Moreover, we aimed to investigate whether ADHD-related cognitive impairments show a relationship with ALT symptom subscales; and whether potential shared cognitive impairments underlie the genetic risk shared between the ADHD and ALT symptoms. Multivariate structural equation modelling was conducted on a population-based sample of 1312 twins aged 7-10. Social-communication ALTs correlated moderately with both ADHD symptom domains (phenotypic correlations around 0.30) and showed substantial genetic overlap with both inattention and hyperactivity-impulsivity (genetic correlation = 0.52 and 0.44, respectively). In addition to previously reported associations with ADHD traits, reaction time variability (RTV) showed significant phenotypic (0.18) and genetic (0.32) association with social-communication ALTs. RTV captured a significant proportion (24 %) of the genetic influences shared between inattention and social-communication ALTs. Our findings suggest that social-communication ALTs underlie the previously observed phenotypic and genetic covariation between ALTs and ADHD symptoms. RTV is not specific to ADHD symptoms, but is also associated with social-communication ALTs and can, in part, contribute to an explanation of the co-occurrence of ASD and ADHD.

Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.

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Wolfenden, C; Wittkowski, A; Hare, D J

2017-11-01

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments.

Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation.

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Guthrie, Whitney; Swineford, Lauren B; Nottke, Charly; Wetherby, Amy M

2013-05-01

Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. Stability of diagnosis and Autism Diagnostic Observation Schedule – Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS Project.Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations,although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e.,improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations.Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain

Gluten and casein supplementation does not increase symptoms in children with autism spectrum disorder.

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Pusponegoro, Hardiono D; Ismael, Sofyan; Firmansyah, Agus; Sastroasmoro, Sudigdo; Vandenplas, Yvan

2015-11-01

A gluten- and casein-free diet is often given to children with autism spectrum disorder (ASD). We aimed to determine the effect of gluten and casein supplementation on maladaptive behaviour, gastrointestinal symptom severity and intestinal fatty acids binding protein (I-FABP) excretion in children with ASD. A randomised, controlled, double-blind trial was performed on 74 children with ASD with severe maladaptive behaviour and increased urinary I-FABP. Subjects were randomised to receive gluten-casein or a placebo for seven days. We evaluated maladaptive behaviour before and after supplementation, using I-FABP excretion, the approach withdrawal problem composite subtest of the Pervasive Developmental Disorder Behavior Inventory and the Gastrointestinal Symptom Severity Index. The mean approach withdrawal problem composite score was significantly higher before supplementation than after, both in the placebo and in the gluten-casein group. However, the mean difference was not significant and may have been caused by additional therapy. There was no significant difference in gastrointestinal symptoms and urinary I-FABP excretion. Administrating gluten-casein to children with ASD for one week did not increase maladaptive behaviour, gastrointestinal symptom severity or urinary I-FABP excretion. The effect of prolonged administration or other mechanisms of enterocyte damage in ASD should be explored. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

mGluR5-antagonist mediated reversal of elevated stereotyped, repetitive behaviors in the VPA model of autism.

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Mili V Mehta

Full Text Available Autism spectrum disorders (ASD are highly disabling developmental disorders with a population prevalence of 1-3%. Despite a strong genetic etiology, there are no current therapeutic options that target the core symptoms of ASD. Emerging evidence suggests that dysfunction of glutamatergic signaling, in particular through metabotropic glutamate receptor 5 (mGluR5 receptors, may contribute to phenotypic deficits and may be appropriate targets for pharmacologic intervention. This study assessed the therapeutic potential of 2-methyl-6-phenylethyl-pyrididine (MPEP, an mGluR5-receptor antagonist, on repetitive and anxiety-like behaviors in the valproic acid (VPA mouse model of autism. Mice were exposed prenatally on day E13 to VPA and assessed for repetitive self-grooming and marble burying behaviors as adults. Anxiety-like behavior and locomotor activity were measured in an open-field. VPA-exposed mice displayed increased repetitive and anxiety-like behaviors, consistent with previously published results. Across both marble burying and self-grooming assays, MPEP significantly reduced repetitive behaviors in VPA-treated mice, but had no effect on locomotor activity. These results are consistent with emerging preclinical literature that mGluR5-antagonists may have therapeutic efficacy for core symptoms of autism.

A randomized double-blind study of atomoxetine versus placebo for attention-deficit/hyperactivity disorder symptoms in children with autism spectrum disorder.

NARCIS (Netherlands)

Harfterkamp, M.; Loo-Neus, G. van de; Minderaa, R.B.; Gaag, R.J. van der; Escobar, R.; Schacht, A.; Pamulapati, S.; Buitelaar, J.K.; Hoekstra, P.J.

2012-01-01

OBJECTIVE: The efficacy of atomoxetine as treatment of symptoms of attention-deficit/hyperactivity disorder (ADHD) in patients with autism spectrum disorder (ASD) has not been established. METHOD: In this study, 97 patients aged 6 to 17 years with ADHD and ASD were randomly assigned to double-blind

A Randomized Double-Blind Study of Atomoxetine Versus Placebo for Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Autism Spectrum Disorder

NARCIS (Netherlands)

Harfterkamp, Myriam; van de Loo-Neus, Gigi; Minderaa, Ruud B.; van der Gaag, Rutger-Jan; Escobar, Rodrigo; Schacht, Alexander; Pamulapati, Sireesha; Buitelaar, Jan K.; Hoekstra, Pieter J.

Objective: The efficacy of atomoxetine as treatment of symptoms of attention-deficit/hyperactivity disorder (ADHD) in patients with autism spectrum disorder (ASD) has not been established. Method: In this study, 97 patients aged 6 to 17 years with ADHD and ASD were randomly assigned to double-blind

Linkage between pain sensitivity and empathic response in adolescents with autism spectrum conditions and conduct disorder symptoms.

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Chen, Chenyi; Hung, An-Yi; Fan, Yang-Teng; Tan, Shuai; Hong, Hua; Cheng, Yawei

2017-02-01

Lack of empathy is one of the behavioral hallmarks in individuals with autism spectrum conditions (ASC) as well as youth with conduct disorder symptoms (CDS). Previous research has reliably documented considerable overlap between the perception of others' pain and first-hand experience of pain. However, the linkage between empathy for pain and sensitivity to physical pain needs to be empirically determined, particularly in individuals with empathy deficits. This study measured the pressure pain threshold, which indexes sensitization of peripheral nociceptors, and assessed subjective ratings of unpleasantness and pain intensity in response to empathy-eliciting stimuli depicting physical bodily injuries in three age- and sex-matched participant groups: ASC, CDS, and typically developing controls (TDC). The results indicated that the pain threshold was lowest in the ASC group and highest in the CDS group. The ASC group displayed lower ratings of unpleasantness and pain intensity than did the TDC and CDS groups. Within the ASC and CDS, pain intensity ratings were significantly correlated with unpleasantness ratings to others' pain. Moreover, the ASC significantly differed from the TDC in the correlation between pain threshold values and unpleasantness ratings. These findings may cast some light on the linkage between atypical low-level sensory functioning, for instance altered pain sensitivity, and high-level empathic processing. Autism Res 2017, 10: 267-275. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

The Biolinguistics of Autism: Emergent Perspectives

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Nicolas J. Bourguignon; Aparna Nadig; Daniel Valois

2012-01-01

This contribution attempts to import the study of autism into the biolinguistics program by reviewing the current state of knowledge on its neurobiology, physiology and verbal phenotypes from a comparative vantage point. A closer look at alternative approaches to the primacy of social cognition impairments in autism spectrum disorders suggests fundamental differences in every aspect of language comprehension and production, suggesting productive directions of research in auditory and visual s...

A semantic-based method for extracting concept definitions from scientific publications: evaluation in the autism phenotype domain.

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Hassanpour, Saeed; O'Connor, Martin J; Das, Amar K

2013-08-12

A variety of informatics approaches have been developed that use information retrieval, NLP and text-mining techniques to identify biomedical concepts and relations within scientific publications or their sentences. These approaches have not typically addressed the challenge of extracting more complex knowledge such as biomedical definitions. In our efforts to facilitate knowledge acquisition of rule-based definitions of autism phenotypes, we have developed a novel semantic-based text-mining approach that can automatically identify such definitions within text. Using an existing knowledge base of 156 autism phenotype definitions and an annotated corpus of 26 source articles containing such definitions, we evaluated and compared the average rank of correctly identified rule definition or corresponding rule template using both our semantic-based approach and a standard term-based approach. We examined three separate scenarios: (1) the snippet of text contained a definition already in the knowledge base; (2) the snippet contained an alternative definition for a concept in the knowledge base; and (3) the snippet contained a definition not in the knowledge base. Our semantic-based approach had a higher average rank than the term-based approach for each of the three scenarios (scenario 1: 3.8 vs. 5.0; scenario 2: 2.8 vs. 4.9; and scenario 3: 4.5 vs. 6.2), with each comparison significant at the p-value of 0.05 using the Wilcoxon signed-rank test. Our work shows that leveraging existing domain knowledge in the information extraction of biomedical definitions significantly improves the correct identification of such knowledge within sentences. Our method can thus help researchers rapidly acquire knowledge about biomedical definitions that are specified and evolving within an ever-growing corpus of scientific publications.

The effect of the video game Mindlight on anxiety symptoms in children with an Autism Spectrum Disorder

OpenAIRE

Wijnhoven, Lieke A. M. W.; Creemers, Daan H. M.; Engels, Rutger C. M. E.; Granic, Isabela

2015-01-01

Background In the clinical setting, a large proportion of children with an autism spectrum disorder (ASD) experience anxiety symptoms. Because anxiety is an important cause of impairment for children with an ASD, it is necessary that effective anxiety interventions are implemented for these children. Recently, a serious game called Mindlight has been developed that is focused on decreasing anxiety in children. This approach is based on recent research suggesting that video games might be suit...

"Comparison of Parenting Related Stress and Depression Symptoms in Mothers of Children with and without Autism Spectrum Disorders(ASD

Directory of Open Access Journals (Sweden)

Fariba Kiani

2014-09-01

Full Text Available Abstract Backgrounds: When a child has a developmental disability, the parenthood stress can be onerous. Research on the parenting stress has addressed the parenting stress differences between children families with and without disabilities. The purpose of the current research was to examine the comparison of parenting related stress and depression symptoms in mothers of children recently diagnosed with and without autism spectrum disorders.Materials and Methods: In this semi-experimental study that was performed using both experiment and control groups, 15 mothers of children was recruited (biological mothers of children with autism spectrum disorders aged 6 years who’s diagnosed were made less than 5 months prior to study and was compared with 15 mothers of children without autism spectrum disorders were selected with using of available sampling method and randomly were replaced into two experimental and control groups. Parents completed a packet of questionnaire measuring demographics, parenting stress and depression. Data were analyzed using of descriptive statistics, t-test method. Results: Results of t tests showed significant differences between the two groups for two variables (p

A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD.

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Siper, Paige M; Kolevzon, Alexander; Wang, A Ting; Buxbaum, Joseph D; Tavassoli, Teresa

2017-06-01

Sensory reactivity is a new criterion for autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). However, there is no consensus on how to reliably measure sensory reactivity, particularly in minimally verbal individuals. The current study is an initial validation of the Sensory Assessment for Neurodevelopmental Disorders (SAND), a novel clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on DSM-5 criteria for ASD. Eighty children between the ages of 2 and 12 participated in this study; 44 children with ASD and 36 typically developing (TD) children. Sensory reactivity symptoms were measured using the SAND and the already validated Short Sensory Profile (SSP). Initial psychometric properties of the SAND were examined including reliability, validity, sensitivity and specificity. Children with ASD showed significantly more sensory reactivity symptoms compared to TD children across sensory domains (visual, tactile, and auditory) and within sensory subtypes (hyperreactivity, hyporeactivity and seeking). The SAND showed strong internal consistency, inter-rater reliability and test-retest reliability, high sensitivity (95.5%) and specificity (91.7%), and strong convergent validity with the SSP. The SAND provides a novel method to characterize sensory reactivity symptoms based on DSM-5 criteria for ASD. This is the first known sensory assessment that combines a clinician-administered observation and caregiver interview to optimally capture sensory phenotypes characteristic of individuals with neurodevelopmental disorders. The SAND offers a beneficial new tool for both research and clinical purposes and has the potential to meaningfully enhance gold-standard assessment of ASD. Autism Res 2017, 10: 1133-1140. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Communication problems in children with autism and intellectual disability : depicting the phenotype

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Maljaars, Janne Pieternella Wilhelmina

2012-01-01

Children with autism and intellectual disability form a particularly vulnerable group, as both disorders have a significant impact on the way and level of information processing and communication. However, children with autism and co-occurring intellectual disability are often excluded from

Symptom Profile of ADHD in Youth With High-Functioning Autism Spectrum Disorder: A Comparative Study in Psychiatrically Referred Populations.

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Joshi, Gagan; Faraone, Stephen V; Wozniak, Janet; Tarko, Laura; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L; Biederman, Joseph

2017-08-01

To compare the clinical presentation of ADHD between youth with autism spectrum disorder (ASD) and ADHD and a sample of youth with ADHD only. A psychiatrically referred sample of autism spectrum disorder (ASD) youth with ADHD attending a specialized ambulatory program for ASD ( n = 107) and a sample of youth with ADHD attending a general child psychiatry ambulatory clinic ( n = 74) were compared. Seventy-six percent of youth with ASD met Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) criteria for ADHD. The clinical presentation of ADHD in youth with ASD was predominantly similar to its typical presentation including age at onset (3.5 ± 1.7 vs. 4.0 ± 1.9; p = .12), distribution of diagnostic subtypes, the qualitative and quantitative symptom profile, and symptom severity. Combined subtype was the most frequent presentation of ADHD in ASD youth. Despite the robust presentation of ADHD, a significant majority of ASD youth with ADHD failed to receive appropriate ADHD treatment (41% vs. 24%; p = .02). A high rate of comorbidity with ADHD was observed in psychiatrically referred youth with ASD, with a clinical presentation typical of the disorder.

Emerging Technologies in Autism Diagnosis, Therapy, Treatment, and Teaching

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Nelson, Angela C.

2014-01-01

Autism Spectrum Disorder is the fastest growing developmental disability today. Autism is a syndrome with a diverse set of symptoms--rarely consistent across diagnosed individuals, and requiring a combination of therapies, educational approaches, and treatments. There is no known cure for autism. Instead treatment is left to educators and…

Comparing Symptoms of Autism Spectrum Disorders Using the Current "DSM-IV-TR" Diagnostic Criteria and the Proposed "DSM-V" Diagnostic Criteria

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Worley, Julie A.; Matson, Johnny L.

2012-01-01

The American Psychiatric Association has proposed major revisions for the diagnostic category encompassing Autism Spectrum Disorders (ASD), which will reportedly increase the specificity and maintain the sensitivity of diagnoses. As a result, the aim of the current study was to compare symptoms of ASD in children and adolescents (N = 208) who met…

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alternations in CNS Development

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2009-10-01

2004. MECP2 structural and 3’-UTR variants in schizophrenia , autism and other psychiatric diseases: a possible association with autism. Am J Med...inhibition, thus potentially enabling enhancement of remyelination. Role: PI Award letter dated 12/11/06 Noble (PI) Cure Autism Now Foundation 02/05

N-acetylcysteine for treatment of autism, a case report

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Ahmad Ghanizadeh

2012-01-01

Full Text Available There are a limited number of Food and Drug Administration (FDA-approved medications for the treatment of autism. Meanwhile, oxidative stress and neuroinflammation are supposed to play a causative role in autism. N-acetylcysteine may provide cystine, a precursor for glutathione (GSH, which is an important antioxidant factor in the brain. We here report a child with autism, whose symptoms were markedly decreased after taking oral N-acetylcysteine 800 mg/day, in three divided doses. His social interaction was significantly increased. The score of social impairment on a visual analog scale decreased from 10 to 6 in the two-month trial. The aggressive behaviors decreased from 10 to 3. This case suggests that N-acetylcysteine may decrease some symptoms of autism.

The valproic acid-induced rodent model of autism.

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Nicolini, Chiara; Fahnestock, Margaret

2018-01-01

Autism is a lifelong neurodevelopmental disorder characterized by impairments in social communication and interaction and by repetitive patterns of behavior, interests and activities. While autism has a strong genetic component, environmental factors including toxins, pesticides, infection and drugs are known to confer autism susceptibility, likely by inducing epigenetic changes. In particular, exposure to valproic acid (VPA) during pregnancy has been demonstrated to increase the risk of autism in children. Furthermore, rodents prenatally exposed to this drug display behavioral phenotypes characteristics of the human condition. Indeed, in utero exposure of rodents to VPA represents a robust model of autism exhibiting face, construct and predictive validity. This model might better represent the many cases of idiopathic autism which are of environmental/epigenetic origins than do transgenic models carrying mutations in single autism-associated genes. The VPA model provides a valuable tool to investigate the neurobiology underlying autistic behavior and to screen for novel therapeutics. Here we review the VPA-induced rodent model of autism, highlighting its importance and reliability as an environmentally-induced animal model of autism. Copyright © 2017 Elsevier Inc. All rights reserved.

Effects of Improvisational Music Therapy vs Enhanced Standard Care on Symptom Severity Among Children With Autism Spectrum Disorder

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Bieleninik, Łucja; Geretsegger, Monika; Mössler, Karin; Assmus, Jörg; Thompson, Grace; Gattino, Gustavo; Elefant, Cochavit; Gottfried, Tali; Igliozzi, Roberta; Muratori, Filippo; Suvini, Ferdinando; Kim, Jinah; Crawford, Mike J.; Odell-Miller, Helen; Oldfield, Amelia; Casey, Órla; Finnemann, Johanna; Carpente, John; Park, A-La; Grossi, Enzo

2017-01-01

Importance Music therapy may facilitate skills in areas affected by autism spectrum disorder (ASD), such as social interaction and communication. Objective To evaluate effects of improvisational music therapy on generalized social communication skills of children with ASD. Design, Setting, and Participants Assessor-blinded, randomized clinical trial, conducted in 9 countries and enrolling children aged 4 to 7 years with ASD. Children were recruited from November 2011 to November 2015, with follow-up between January 2012 and November 2016. Interventions Enhanced standard care (n = 182) vs enhanced standard care plus improvisational music therapy (n = 182), allocated in a 1:1 ratio. Enhanced standard care consisted of usual care as locally available plus parent counseling to discuss parents’ concerns and provide information about ASD. In improvisational music therapy, trained music therapists sang or played music with each child, attuned and adapted to the child’s focus of attention, to help children develop affect sharing and joint attention. Main Outcomes and Measures The primary outcome was symptom severity over 5 months, based on the Autism Diagnostic Observation Schedule (ADOS), social affect domain (range, 0-27; higher scores indicate greater severity; minimal clinically important difference, 1). Prespecified secondary outcomes included parent-rated social responsiveness. All outcomes were also assessed at 2 and 12 months. Results Among 364 participants randomized (mean age, 5.4 years; 83% boys), 314 (86%) completed the primary end point and 290 (80%) completed the last end point. Over 5 months, participants assigned to music therapy received a median of 19 music therapy, 3 parent counseling, and 36 other therapy sessions, compared with 3 parent counseling and 45 other therapy sessions for those assigned to enhanced standard care. From baseline to 5 months, mean ADOS social affect scores estimated by linear mixed-effects models decreased from 14

The Broad Autism (Endo)Phenotype: Neurostructural and Neurofunctional Correlates in Parents of Individuals with Autism Spectrum Disorders

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Billeci, Lucia; Calderoni, Sara; Conti, Eugenia; Gesi, Camilla; Carmassi, Claudia; Dell'Osso, Liliana; Cioni, Giovanni; Muratori, Filippo; Guzzetta, Andrea

2016-01-01

Autism Spectrum Disorders (ASD) are a set of neurodevelopmental disorders with an early-onset and a strong genetic component in their pathogenesis. According to genetic and epidemiological data, ASD relatives present personality traits similar to, but not as severe as the defining features of ASD, which have been indicated as the “Broader Autism Phenotype” (BAP). BAP features seem to be more prevalent in first-degree relatives of individuals with ASD than in the general population. Characteri...

Does Gender Matter? A One Year Follow-Up of Autistic, Attention and Anxiety Symptoms in High-Functioning Children with Autism Spectrum Disorder

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May, Tamara; Cornish, Kim; Rinehart, Nicole

2014-01-01

Gender differences in autism spectrum disorder (ASD) symptoms and associated problem behaviours over development may provide clues regarding why more males than females are diagnosed with ASD. Fifty-six high-functioning children with ASD, and 44 typically developing controls, half of the participants female, were assessed at baseline (aged…

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

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Tordjman, Sylvie; Anderson, George M; Botbol, Michel; Toutain, Annick; Sarda, Pierre; Carlier, Michèle; Saugier-Veber, Pascale; Baumann, Clarisse; Cohen, David; Lagneaux, Céline; Tabet, Anne-Claude; Verloes, Alain

2012-01-01

Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism.

Autism Spectrum Disorder and intact executive functioning.

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Ferrara, R; Ansermet, F; Massoni, F; Petrone, L; Onofri, E; Ricci, P; Archer, T; Ricci, S

2016-01-01

Earliest notions concerning autism (Autism Spectrum Disorders, ASD) describe the disturbance in executive functioning. Despite altered definition, executive functioning, expressed as higher cognitive skills required complex behaviors linked to the prefrontal cortex, are defective in autism. Specific difficulties in children presenting autism or verbal disabilities at executive functioning levels have been identified. Nevertheless, the developmental deficit of executive functioning in autism is highly diversified with huge individual variation and may even be absent. The aim of the present study to examine the current standing of intact executive functioning intact in ASD. Analysis of ASD populations, whether high-functioning, Asperger's or autism Broad Phenotype, studied over a range of executive functions including response inhibition, planning, cognitive flexibility, cognitive inhibition, and alerting networks indicates an absence of damage/impairment compared to the typically-developed normal control subjects. These findings of intact executive functioning in ASD subjects provide a strong foundation on which to construct applications for growth environments and the rehabilitation of autistic subjects.

Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.

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López-Mourelo, O; Mur, E; Madrigal, I; Alvarez-Mora, M I; Gómez-Ansón, B; Pagonabarraga, J; Rodriguez-Revenga, L; Milà, M

2017-01-01

Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN) and the Autism-Spectrum Quotient (AQ) questionnaires. Fifty-nine premutation carriers were compared with 50 controls. The SPIN test showed statistically significant differences between female but not male carriers. The AQ questionnaire found statistically significant differences between premutation carriers and controls in the total AQ as well as in the social skills and attention switching subdomains. A gender effect was only observed for the social skills subdomain. Spearman's correlation analysis revealed a moderately positive correlation with the total AQ scores as well as the social skills and communication subdomains. Our results show that fragile X-associated tremor/ataxia syndrome (FXTAS) patients have higher AQ scores. Moreover, this is the first study to find statistically significant differences between FXTAS and no-FXTAS premutation carriers in the communication and the imagination subdomains, suggesting that FXTAS patients present a broader autistic phenotype than premutation carriers without FXTAS. Based on our results, a wide range of behavioral/psychiatric traits should be included within the broader phenotypic presentation of individuals with the FMR1 premutation. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Perinatal exposure to low dose glufosinate ammonium induces autism-like phenotypes in mice.

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Anthony eLaugeray

2014-11-01

Full Text Available Glufosinate ammonium (GLA is one of the most widely used herbicides in agriculture. As is the case for most pesticides, potential adverse effects of GLA have not been studied from the perspective of developmental neurotoxicity. Early pesticides exposure may weaken the basic structure of the developing brain and cause permanent changes leading to a wide range of lifelong effects on health and/or behavior. Here we addressed the developmental impact of GLA by exposing female mice to low dose GLA during both pre- and postnatal periods and analyzed potential developmental and behavioral changes of the offspring during infancy and adulthood. A neurobehavioral test battery revealed significant effects of GLA maternal exposure on early reflex development, pup communication, affiliative behaviors, and preference for social olfactory cues, but emotional reactivity and emotional memory remained unaltered. These behavioral alterations showed a striking resemblance to changes seen in animal models of Autistic Spectrum Disorders. At the brain level, GLA maternal exposure caused some increase in normalized brain weight of the offspring. In addition, reduced expression of Pten and Peg3 - two genes implicated in autism-like deficits – was observed in the brain of GLA-exposed pups at postnatal day 15. Our work thus provides new data on the link between perinatal exposure to the herbicide GLA and the onset of autism-like symptoms later in life. It also raises fundamental concerns about the ability of current safety testing to assess risks of pesticide exposure during critical developmental periods.

What Are the Treatments for Autism?

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... symptoms and later skills. Read more about early interventions for autism. Because there can be overlap in symptoms between ASD and other disorders, such as attention deficit hyperactivity disorder (ADHD), 2 it's important that treatment focus on ...

Response to Electroconvulsive Therapy in Patients With Autism Spectrum Disorder and Intractable Challenging Behaviors Associated With Symptoms of Catatonia.

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Sajith, Sreedharan Geetha; Liew, Siew Fai; Tor, Phern Chern

2017-03-01

There are several reports of electroconvulsive therapy (ECT) used in autism spectrum disorder (ASD) in the context of catatonic symptoms. We describe response to ECT in two adults with ASD and intellectual disability with intractable aggression and self-injurious behaviors associated with catatonic symptoms who had not responded to standard interventions. Unilateral ECT at a frequency of 3 times a week was given followed by weekly maintenance ECT. Patients' catatonic symptoms included episodes of agitation and echophenomena. Electroconvulsive therapy resulted in significant improvement in their behavior problems but 1 patient relapsed when the ECT was discontinued or frequency of treatment reduced. The second patient required 2 courses of ECT before improvement which was maintained on weekly ECT. Electroconvulsive therapy could be a potentially beneficial intervention in patients with ASD and severe challenging behaviors associated with catatonic symptoms including agitated or excited forms of catatonia.

Neuroanatomical phenotypes in mental illness: identifying convergent and divergent cortical phenotypes across autism, ADHD and schizophrenia.

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Park, Min Tae M; Raznahan, Armin; Shaw, Philip; Gogtay, Nitin; Lerch, Jason P; Chakravarty, M Mallar

2018-05-01

There is evidence suggesting neuropsychiatric disorders share genomic, cognitive and clinical features. Here, we ask if autism-spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD) and schizophrenia share neuroanatomical variations. First, we used measures of cortical anatomy to estimate spatial overlap of neuroanatomical variation using univariate methods. Next, we developed a novel methodology to determine whether cortical deficits specifically target or are "enriched" within functional resting-state networks. We found cortical anomalies were preferentially enriched across functional networks rather than clustering spatially. Specifically, cortical thickness showed significant enrichment between patients with ASD and those with ADHD in the default mode network, between patients with ASD and those with schizophrenia in the frontoparietal and limbic networks, and between patients with ADHD and those with schizophrenia in the ventral attention network. Networks enriched in cortical thickness anomalies were also strongly represented in functional MRI results (Neurosynth; r = 0.64, p = 0.032). We did not account for variable symptom dimensions and severity in patient populations, and our cross-sectional design prevented longitudinal analyses of developmental trajectories. These findings suggest that common deficits across neuropsychiatric disorders cannot simply be characterized as arising out of local changes in cortical grey matter, but rather as entities of both local and systemic alterations targeting brain networks.

Childhood asthma-predictive phenotype.

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Guilbert, Theresa W; Mauger, David T; Lemanske, Robert F

2014-01-01

Wheezing is a fairly common symptom in early childhood, but only some of these toddlers will experience continued wheezing symptoms in later childhood. The definition of the asthma-predictive phenotype is in children with frequent, recurrent wheezing in early life who have risk factors associated with the continuation of asthma symptoms in later life. Several asthma-predictive phenotypes were developed retrospectively based on large, longitudinal cohort studies; however, it can be difficult to differentiate these phenotypes clinically as the expression of symptoms, and risk factors can change with time. Genetic, environmental, developmental, and host factors and their interactions may contribute to the development, severity, and persistence of the asthma phenotype over time. Key characteristics that distinguish the childhood asthma-predictive phenotype include the following: male sex; a history of wheezing, with lower respiratory tract infections; history of parental asthma; history of atopic dermatitis; eosinophilia; early sensitization to food or aeroallergens; or lower lung function in early life. Copyright © 2014 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene.

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Davis, Lea K; Hazlett, Heather C; Librant, Amy L; Nopoulos, Peggy; Sheffield, Val C; Piven, Joesph; Wassink, Thomas H

2008-10-05

Monoamine oxidase A (MAOA) is an enzyme expressed in the brain that metabolizes dopamine, norepinephrine, epinephrine, and serotonin. Abnormalities of serotonin neurotransmission have long been implicated in the psychopathology of autism. A polymorphism exists within the promoter region of the MAOA gene that influences MAOA expression levels so that "low activity" alleles are associated with increased neurotransmitter levels in the brain. Individuals with autism often exhibit elevated serotonin levels. Additional studies indicate that the "low activity" allele may be associated with lower IQ and more severe autistic symptoms. In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2-3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. We found a consistent association between the "low activity" allele and larger brain volumes for regions of the cortex in children with autism but not in controls. We did not find evidence for over-transmission of the "low activity" allele in a separate sample of 114 affected sib pair families. Nor did we find any unknown SNPs in yet another sample of 96 probands. Future studies will determine if there is a more severe clinical phenotype associated with both the "low activity" genotype and the larger brain volumes in our sample.

Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study.

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Charman, Tony; Young, Gregory S; Brian, Jessica; Carter, Alice; Carver, Leslie J; Chawarska, Katarzyna; Curtin, Suzanne; Dobkins, Karen; Elsabbagh, Mayada; Georgiades, Stelios; Hertz-Picciotto, Irva; Hutman, Ted; Iverson, Jana M; Jones, Emily J; Landa, Rebecca; Macari, Suzanne; Messinger, Daniel S; Nelson, Charles A; Ozonoff, Sally; Saulnier, Celine; Stone, Wendy L; Tager-Flusberg, Helen; Webb, Sara Jane; Yirmiya, Nurit; Zwaigenbaum, Lonnie

2017-01-01

We characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We report outcomes at age 3 years using the Mullen Scales of Early Learning, the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview-Revised (ADI-R) and adaptive functioning on the Vineland Adaptive Behavior Scales. Around 11% of high-risk siblings had mild-to-moderate levels of developmental delay, a rate higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. Thirty percent of high-risk siblings had elevated scores on the ADOS, double the rate seen in the low-risk controls. High-risk siblings also had higher parent reported levels of ASD symptoms on the ADI-R and lower adaptive functioning on the Vineland. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures but not mild-to-moderate language delay. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. These findings are evidence for early emerging characteristics related to the "broader autism phenotype" (BAP) previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not have an ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes. Autism Res 2017, 10: 169-178. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Aging and Autism Spectrum Disorder: A Naturalistic, Longitudinal Study of the Comorbidities and Behavioral and Neuropsychiatric Symptoms in Adults with ASD

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Wise, Elizabeth A.; Smith, Marcia D.; Rabins, Peter V.

2017-01-01

Little is known about Autism Spectrum Disorder (ASD) in persons over age 50. In a retrospective, naturalistic review of 74 individuals aged 30 and older meeting DSM-5 criteria for ASD, the point prevalence of behavioral and neuropsychiatric symptoms (BNPS) declined significantly for 12 of 13 BNPS over a mean of 25 years while many other features…

A Randomized Double-Blind Study of Atomoxetine versus Placebo for Attention-Deficit/Hyperactivity Disorder Symptoms in Children with Autism Spectrum Disorder

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Harfterkamp, Myriam; van de Loo-Neus, Gigi; Minderaa, Ruud B.; van der Gaag, Rutger-Jan; Escobar, Rodrigo; Schacht, Alexander; Pamulapati, Sireesha; Buitelaar, Jan K.; Hoekstra, Pieter J.

2012-01-01

Objective: The efficacy of atomoxetine as treatment of symptoms of attention-deficit/hyperactivity disorder (ADHD) in patients with autism spectrum disorder (ASD) has not been established. Method: In this study, 97 patients aged 6 to 17 years with ADHD and ASD were randomly assigned to double-blind treatment with 1.2 mg/kg/day atomoxetine or…

Are parental autism spectrum disorder and/or attention-deficit/Hyperactivity disorder symptoms related to parenting styles in families with ASD (+ADHD) affected children?

NARCIS (Netherlands)

Steijn, D.J. van; Oerlemans, A.M.; Ruiter, S.W. de; Aken, M.A.G. van; Buitelaar, J.K.; Rommelse, N.N.J.

2013-01-01

An understudied and sensitive topic nowadays is that even subthreshold symptoms of autism spectrum disorder (ASD) and attention-deficit/Hyperactivity disorder (ADHD) in parents may relate to their parenting styles. The aim of this study was to explore the influence of (the combined) effect of child

Risk factors for the existence of attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders

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Lamanna AL

2017-06-01

Full Text Available Anna Linda Lamanna, Francesco Craig, Emilia Matera, Marta Simone, Maura Buttiglione, Lucia Margari Child Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy Abstract: Over the years, several authors have reported symptoms of attention deficit hyperactivity disorder (ADHD in patients with autism spectrum disorders (ASD; however, studies on the risk factors of ADHD symptoms in children with ASD are lacking. The aim of this cross-sectional study was to identify the risk factors for the development of ADHD symptoms in children with ASD. The sample consisted of 67 children with ASD who were assessed with Conner’s Parent Rating Scale-Revised (CPRS-R, and with a semi-structured detailed interview administered to parents, to collect a series of clinical data such as coexisting somatic and neuropsychiatric problems and familial and pre/peri/postpartum risk factors. We found that 55% of ASD children exceeded the cut-off of CPRS-R Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV, total scale. The univariate analyses showed that children’s age (P=0.048, motor delay (P=0.039, enuresis (P=0.014, allergies (P<0.01, comorbid oppositional defiant disorder (P=0.026 and intellectual disabilities comorbidities (P=0.034 were associated to the CPRS-R DSM-IV total score. Some familial predictors such as neuropsychiatric family history of intellectual disabilities (P=0.003 and psychosis (P=0.039 were related to the CPRS-R DSM-IV total score. In particular, a model including allergies (P=0.000 and family history of psychosis (P=0.03 explained 25% (corrected R2=0.25 of the variance of the DSM-IV ADHD score. In conclusion, we identified some risk factors associated with the development of ADHD symptoms in ASD children that need to be studied further. Keywords: neurodevelopmental disorders, autism spectrum disorders, ASD, attention deficit hyperactivity

Frontal networks in adults with autism spectrum disorder.

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Catani, Marco; Dell'Acqua, Flavio; Budisavljevic, Sanja; Howells, Henrietta; Thiebaut de Schotten, Michel; Froudist-Walsh, Seán; D'Anna, Lucio; Thompson, Abigail; Sandrone, Stefano; Bullmore, Edward T; Suckling, John; Baron-Cohen, Simon; Lombardo, Michael V; Wheelwright, Sally J; Chakrabarti, Bhismadev; Lai, Meng-Chuan; Ruigrok, Amber N V; Leemans, Alexander; Ecker, Christine; Consortium, Mrc Aims; Craig, Michael C; Murphy, Declan G M

2016-02-01

It has been postulated that autism spectrum disorder is underpinned by an 'atypical connectivity' involving higher-order association brain regions. To test this hypothesis in a large cohort of adults with autism spectrum disorder we compared the white matter networks of 61 adult males with autism spectrum disorder and 61 neurotypical controls, using two complementary approaches to diffusion tensor magnetic resonance imaging. First, we applied tract-based spatial statistics, a 'whole brain' non-hypothesis driven method, to identify differences in white matter networks in adults with autism spectrum disorder. Following this we used a tract-specific analysis, based on tractography, to carry out a more detailed analysis of individual tracts identified by tract-based spatial statistics. Finally, within the autism spectrum disorder group, we studied the relationship between diffusion measures and autistic symptom severity. Tract-based spatial statistics revealed that autism spectrum disorder was associated with significantly reduced fractional anisotropy in regions that included frontal lobe pathways. Tractography analysis of these specific pathways showed increased mean and perpendicular diffusivity, and reduced number of streamlines in the anterior and long segments of the arcuate fasciculus, cingulum and uncinate--predominantly in the left hemisphere. Abnormalities were also evident in the anterior portions of the corpus callosum connecting left and right frontal lobes. The degree of microstructural alteration of the arcuate and uncinate fasciculi was associated with severity of symptoms in language and social reciprocity in childhood. Our results indicated that autism spectrum disorder is a developmental condition associated with abnormal connectivity of the frontal lobes. Furthermore our findings showed that male adults with autism spectrum disorder have regional differences in brain anatomy, which correlate with specific aspects of autistic symptoms. Overall these

Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder

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Thurman, Angela John; McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi J.; Abbeduto, Leonard

2015-01-01

Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional…

Vitamin D treatment during pregnancy prevents autism-related phenotypes in a mouse model of maternal immune activation.

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Vuillermot, Stephanie; Luan, Wei; Meyer, Urs; Eyles, Darryl

2017-01-01

Prenatal exposure to infection is a recognized environmental risk factor for neuropsychiatric disorders of developmental origins such as autism or schizophrenia. Experimental work in animals indicates that this link is mediated by maternal immune activation (MIA) involving interactions between cytokine-associated inflammatory events, oxidative stress, and other pathophysiological processes such as hypoferremia and zinc deficiency. Maternal administration of the viral mimic polyriboinosinic-polyribocytidylic acid (poly(I:C)) in mice produces several behavioral phenotypes in adult offspring of relevance to autism spectrum disorder (ASD) and other neurodevelopmental disorders. Here, we investigated whether some of these phenotypes might also present in juveniles. In addition, given the known immunomodulatory and neuroprotective effects of vitamin D, we also investigated whether the co-administration of vitamin D could block MIA-induced ASD-related behaviors. We co-administered the hormonally active form of vitamin D, 1α,25 dihydroxy vitamin D3 (1,25OHD), simultaneously with poly(I:C) and examined (i) social interaction, stereotyped behavior, emotional learning and memory, and innate anxiety-like behavior in juveniles and (ii) the levels of the pro-inflammatory cytokines IL-1β, IL-6 and TNF-α in maternal plasma and fetal brains. We show that like adult offspring that were exposed to MIA, juveniles display similar deficits in social approach behavior. Juvenile MIA offspring also show abnormal stereotyped digging and impaired acquisition and expression of tone-cued fear conditioning. Importantly, our study reveals that prenatal administration of 1,25OHD abolishes all these behavioral deficits in poly(I:C)-treated juveniles. However, prenatal administration of vitamin D had no effect on pro-inflammatory cytokine levels in dams or in fetal brains suggesting the anti-inflammatory actions of vitamin D are not the critical mechanism for its preventive actions in this ASD

Are Males and Females with Autism Spectrum Disorder More Similar than We Thought?

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Mussey, Joanna L.; Ginn, Nicole C.; Klinger, Laura G.

2017-01-01

Differences in behavioral and cognitive profiles have been suggested to potentially impact the presentation of social and communication symptoms in females with autism spectrum disorder. This study examined gender differences in age of diagnosis, cognitive profiles, social communication symptomatology, and autism spectrum disorder symptom severity…

Toward an Interdisciplinary Understanding of Sensory Dysfunction in Autism Spectrum Disorder: An Integration of the Neural and Symptom Literatures

OpenAIRE

Schauder, Kimberly B.; Bennetto, Loisa

2016-01-01

Sensory processing differences have long been associated with autism spectrum disorder (ASD), and they have recently been added to the diagnostic criteria for the disorder. The focus on sensory processing in ASD research has increased substantially in the last decade. This research has been approached from two different perspectives: the first focuses on characterizing the symptoms that manifest in response to real world sensory stimulation, and the second focuses on the neural pathways and m...

The effect of the video game Mindlight on anxiety symptoms in children with an Autism Spectrum Disorder [study protocol

OpenAIRE

Wijnhoven, L.A.M.W.; Creemers, D.H.M.; Engels, R.C.M.E.; Granic, I.

2015-01-01

Background In the clinical setting, a large proportion of children with an autism spectrum disorder (ASD) experience anxiety symptoms. Because anxiety is an important cause of impairment for children with an ASD, it is necessary that effective anxiety interventions are implemented for these children. Recently, a serious game called Mindlight has been developed that is focused on decreasing anxiety in children. This approach is based on recent research suggesting that video games might be suit...

Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges

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Mazzone Luigi

2012-06-01

Full Text Available Abstract Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS and High Functioning Autism (HFA. In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications.

Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges

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2012-01-01

Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications. PMID:22731684

A multisite study of the clinical diagnosis of different autism spectrum disorders.

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Lord, Catherine; Petkova, Eva; Hus, Vanessa; Gan, Weijin; Lu, Feihan; Martin, Donna M; Ousley, Opal; Guy, Lisa; Bernier, Raphael; Gerdts, Jennifer; Algermissen, Molly; Whitaker, Agnes; Sutcliffe, James S; Warren, Zachary; Klin, Ami; Saulnier, Celine; Hanson, Ellen; Hundley, Rachel; Piggot, Judith; Fombonne, Eric; Steiman, Mandy; Miles, Judith; Kanne, Stephen M; Goin-Kochel, Robin P; Peters, Sarika U; Cook, Edwin H; Guter, Stephen; Tjernagel, Jennifer; Green-Snyder, Lee Anne; Bishop, Somer; Esler, Amy; Gotham, Katherine; Luyster, Rhiannon; Miller, Fiona; Olson, Jennifer; Richler, Jennifer; Risi, Susan

2012-03-01

Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available. To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites. Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites. Participants were recruited through 12 university-based autism service providers into a genetic study of autism. A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder. Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs. Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

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Buxbaum Joseph D

2012-02-01

Full Text Available Abstract Background There is interest in defining mouse neurobiological phenotypes useful for studying autism spectrum disorders (ASD in both forward and reverse genetic approaches. A recurrent focus has been on high-order behavioral analyses, including learning and memory paradigms and social paradigms. However, well-studied mouse models, including for example Fmr1 knockout mice, do not show dramatic deficits in such high-order phenotypes, raising a question as to what constitutes useful phenotypes in ASD models. Methods To address this, we made use of a list of 112 disease genes etiologically involved in ASD to survey, on a large scale and with unbiased methods as well as expert review, phenotypes associated with a targeted disruption of these genes in mice, using the Mammalian Phenotype Ontology database. In addition, we compared the results with similar analyses for human phenotypes. Findings We observed four classes of neurobiological phenotypes associated with disruption of a large proportion of ASD genes, including: (1 Changes in brain and neuronal morphology; (2 electrophysiological changes; (3 neurological changes; and (4 higher-order behavioral changes. Alterations in brain and neuronal morphology represent quantitative measures that can be more widely adopted in models of ASD to understand cellular and network changes. Interestingly, the electrophysiological changes differed across different genes, indicating that excitation/inhibition imbalance hypotheses for ASD would either have to be so non-specific as to be not falsifiable, or, if specific, would not be supported by the data. Finally, it was significant that in analyses of both mouse and human databases, many of the behavioral alterations were neurological changes, encompassing sensory alterations, motor abnormalities, and seizures, as opposed to higher-order behavioral changes in learning and memory and social behavior paradigms. Conclusions The results indicated that mutations

Early social-communicative and cognitive development of younger siblings of children with autism spectrum disorders.

Science.gov (United States)

Stone, Wendy L; McMahon, Caitlin R; Yoder, Paul J; Walden, Tedra A

2007-04-01

To compare the early social-communicative development of younger siblings of children with autism spectrum disorders (ASDs) with that of younger siblings of children with typical development, using parental report and child-based measures. Group comparison. Vanderbilt University, between July 1, 2003, and July 31, 2006. Younger siblings of children with ASD (n = 64) and younger siblings of children with typical development (n = 42) between the ages of 12 and 23 months (mean, 16 months). Main Exposure Having a sibling with an ASD. Child-based measures included a cognitive assessment; an interactive screening tool assessing play, imitation, and communication; and a rating of autism symptoms. Parental report measures were an interview of social-communicative interactions and a questionnaire assessing language and communication skills. Younger siblings of children with ASD demonstrated weaker performance in nonverbal problem solving (mean difference [MD], 5.91; 95% confidence interval [CI], 2.48-9.34), directing attention (MD, 0.52; 95% CI, 0.07-0.97), understanding words (MD, 33.30; 95% CI, 3.11-63.48), understanding phrases (MD, 4.56; 95% CI, 1.85-7.27), gesture use (MD, 1.49; 95% CI, 0.51-2.47), and social-communicative interactions with parents (MD, 1.32; 95% CI, 0.27-2.37), and had increased autism symptoms (MD, 2.54; 95% CI, 1.05-4.03), relative to control siblings. A substantial minority of the ASD sibling group exhibited lower performance relative to controls. Significant correlations between child-based measures and parental reports assessing similar constructs were found (r = -0.74 to 0.53; P range, .000-.002). The weaker performance found for children in the ASD sibling group may represent early-emerging features of the broader autism phenotype, thus highlighting the importance of developmental surveillance for younger siblings.

The Effect of Daily Challenges in Children with Autism on Parents’ Couple Problem-Solving Interactions

Science.gov (United States)

Hartley, Sigan L.; Papp, Lauren M.; Blumenstock, Shari; Floyd, Frank; Goetz, Greta L.

2016-01-01

The vulnerability-stress-adaptation model guided this examination of the impact of daily fluctuations in the symptoms and co-occurring behavior problems of children with autism spectrum disorder (ASD) on parents’ couple problem-solving interactions in natural settings and as these interactions spontaneously occur. A 14-day daily diary was completed by mothers and fathers in 176 families who had a child with ASD. On each day of the diary, parents separately reported on the child with ASD's daily level of symptoms and co-occurring behavior problems and the topic and level of negative affect in their most meaningful or important daily couple problem-solving interaction. Multilevel modeling was used to account for the within-person, within-couple nested structure of the data. Results indicated that many parents are resilient to experiencing a day with a high level of child ASD symptoms and co-occurring behavior problems and do not report more negative couple problem-solving interactions. However, household income, level of parental broader autism phenotype, and presence of multiple children with special care needs served as vulnerability factors in that they were related to a higher overall rating of negative affect in couple interactions and moderated the impact of reporting a day with a high level of child ASD symptoms and co-occurring behavior problems on next-day ratings of negative couple problem-solving interactions. The magnitude of these effects was small. Understanding mechanisms that support adaptive couple interactions in parents of children with ASD is critical for promoting best outcomes. PMID:27336179

Long-Term Treatment with Atomoxetine for Attention-Deficit/Hyperactivity Disorder Symptoms in Children and Adolescents with Autism Spectrum Disorder : An Open-Label Extension Study

NARCIS (Netherlands)

Harfterkamp, Myriam; Buitelaar, Jan K.; Minderaa, Ruud B.; van de Loo-Neus, Gigi; van der Gaag, Rutger-Jan; Hoekstra, Pieter J.

Objective: The efficacy and tolerability of long-term treatment with atomoxetine for symptoms of attention-deficit/hyperactivity disorder (ADHD) in children with autism spectrum disorder (ASD) has not been established. Methods: In this study, 88 patients 6-17 years of age, with ADHD and ASD, were

Classifying Autism Spectrum Disorders by ADI-R: Subtypes or Severity Gradient?

Science.gov (United States)

Cholemkery, Hannah; Medda, Juliane; Lempp, Thomas; Freitag, Christine M.

2016-01-01

To reduce phenotypic heterogeneity of Autism spectrum disorders (ASD) and add to the current diagnostic discussion this study aimed at identifying clinically meaningful ASD subgroups. Cluster analyses were used to describe empirically derived groups based on the Autism Diagnostic Interview-revised (ADI-R) in a large sample of n = 463 individuals…

The Pleiotropic MET Receptor Network: Circuit Development and the Neural-Medical Interface of Autism.

Science.gov (United States)

Eagleson, Kathie L; Xie, Zhihui; Levitt, Pat

2017-03-01

People with autism spectrum disorder and other neurodevelopmental disorders (NDDs) are behaviorally and medically heterogeneous. The combination of polygenicity and gene pleiotropy-the influence of one gene on distinct phenotypes-raises questions of how specific genes and their protein products interact to contribute to NDDs. A preponderance of evidence supports developmental and pathophysiological roles for the MET receptor tyrosine kinase, a multifunctional receptor that mediates distinct biological responses depending upon cell context. MET influences neuron architecture and synapse maturation in the forebrain and regulates homeostasis in gastrointestinal and immune systems, both commonly disrupted in NDDs. Peak expression of synapse-enriched MET is conserved across rodent and primate forebrain, yet regional differences in primate neocortex are pronounced, with enrichment in circuits that participate in social information processing. A functional risk allele in the MET promoter, enriched in subgroups of children with autism spectrum disorder, reduces transcription and disrupts socially relevant neural circuits structurally and functionally. In mice, circuit-specific deletion of Met causes distinct atypical behaviors. MET activation increases dendritic complexity and nascent synapse number, but synapse maturation requires reductions in MET. MET mediates its specific biological effects through different intracellular signaling pathways and has a complex protein interactome that is enriched in autism spectrum disorder and other NDD candidates. The interactome is coregulated in developing human neocortex. We suggest that a gene as pleiotropic and highly regulated as MET, together with its interactome, is biologically relevant in normal and pathophysiological contexts, affecting central and peripheral phenotypes that contribute to NDD risk and clinical symptoms. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Parental attitudes towards the education of children with autism spectrum disorder

OpenAIRE

Kubínová, Michaela

2017-01-01

This diploma thesis provide a comprehensive list of information about the attitudes of parents towards education of children with autism spectrum disorders. The aim of this thesis is to determine how the parents receive a diagnosis of autism of their children and how they determine the access to education for their children as well. The theoretical part is based on literature, there are defined basic information about autism spectrum disorder, division of autism, causes symptoms of autism and...

Imagination in human social cognition, autism, and psychotic-affective conditions.

Science.gov (United States)

Crespi, Bernard; Leach, Emma; Dinsdale, Natalie; Mokkonen, Mikael; Hurd, Peter

2016-05-01

Complex human social cognition has evolved in concert with risks for psychiatric disorders. Recently, autism and psychotic-affective conditions (mainly schizophrenia, bipolar disorder, and depression) have been posited as psychological 'opposites' with regard to social-cognitive phenotypes. Imagination, considered as 'forming new ideas, mental images, or concepts', represents a central facet of human social evolution and cognition. Previous studies have documented reduced imagination in autism, and increased imagination in association with psychotic-affective conditions, yet these sets of findings have yet to be considered together, or evaluated in the context of the diametric model. We first review studies of the components, manifestations, and neural correlates of imagination in autism and psychotic-affective conditions. Next, we use data on dimensional autism in healthy populations to test the hypotheses that: (1) imagination represents the facet of autism that best accounts for its strongly male-biased sex ratio, and (2) higher genetic risk of schizophrenia is associated with higher imagination, in accordance with the predictions of the diametric model. The first hypothesis was supported by a systematic review and meta-analysis showing that Imagination exhibits the strongest male bias of all Autism Quotient (AQ) subscales, in non-clinical populations. The second hypothesis was supported, for males, by associations between schizophrenia genetic risk scores, derived from a set of single-nucleotide polymorphisms, and the AQ Imagination subscale. Considered together, these findings indicate that imagination, especially social imagination as embodied in the default mode human brain network, mediates risk and diametric dimensional phenotypes of autism and psychotic-affective conditions. Copyright © 2016 Elsevier B.V. All rights reserved.

Twin Studies in Autism: What Might They Say about Genetic and Environmental Influences

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Anderson, George M.

2012-01-01

Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.

When Autistic Behavior Suggests a Disease Other than Classic Autism.

Science.gov (United States)

Simms, Mark D

2017-02-01

Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations). An approach to differential diagnosis is discussed with particular attention to evaluation of young children. Copyright © 2016 Elsevier Inc. All rights reserved.

Drug-refractory aggression, self-injurious behavior, and severe tantrums in autism spectrum disorders: a chart review study.

Science.gov (United States)

Adler, Benjamin A; Wink, Logan K; Early, Maureen; Shaffer, Rebecca; Minshawi, Noha; McDougle, Christopher J; Erickson, Craig A

2015-01-01

Aggression, self-injurious behavior, and severe tantrums are impairing symptoms frequently experienced by individuals with autism spectrum disorders. Despite US Food and Drug Administration approval of two atypical antipsychotics targeting these symptoms in youth with autistic disorder, they remain frequently drug refractory. We define drug-refractory aggression, self-injurious behavior, and severe tantrums in people with autism spectrum disorders as behavioral symptoms requiring medication adjustment despite previous trials of risperidone and aripiprazole or previous trials of three psychotropic drugs targeting the symptom cluster, one of which was risperidone or aripiprazole. We reviewed the medical records of individuals of all ages referred to our clinic for autism spectrum disorder diagnostic evaluation, as well as pharmacotherapy follow-up notes for all people meeting autism spectrum disorder criteria, for drug-refractory symptoms. Among 250 consecutively referred individuals, 135 met autism spectrum disorder and enrollment criteria, and 53 of these individuals met drug-refractory symptom criteria. Factors associated with drug-refractory symptoms included age 12 years or older (p diagnosis of autistic disorder (p = 0.0139), and presence of intellectual disability (p = 0.0273). This pilot report underscores the significance of drug-refractory aggression, self-injurious behavior, and severe tantrums; suggests the need for future study clarifying factors related to symptom development; and identifies the need for focused treatment study of this impairing symptom domain. © The Author(s) 2014.

Autism Spectrum Disorder classification, diagnosis and therapy.

Science.gov (United States)

Sharma, Samata R; Gonda, Xenia; Tarazi, Frank I

2018-05-12

Autism Spectrum Disorder (ASD) refers to a group of neurodevelopmental disorders including autism, Asperger's syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD-NOS). The new diagnostic criteria of ASD focuses on two core domains: social communication impairment and restricted interests/repetitive behaviors. The prevalence of ASD has been steadily increasing over the past two decades, with current estimates reaching up to 1 in 36 children. Hereditary factors, parental history of psychiatric disorders, pre-term births, and fetal exposure to psychotropic drugs or insecticides have all been linked to higher risk of ASD. Several scales such as the Childhood Autism Rating Scale (CARS), The Autism Spectrum Disorder-Observation for Children (ASD-OC), The Developmental, Dimensional, and Diagnostic Interview (3di), are available to aid in better assessing the behaviors and symptoms associated with ASD. Nearly 75% of ASD patients suffer from comorbid psychiatric illnesses or conditions, which may include attention-deficit hyperactivity disorder (ADHD), anxiety, bipolar disorder, depression, Tourette syndrome, and others. Both pharmacological and non-pharmacological interventions are available for ASD. Pharmacological treatments include psychostimulants, atypical antipsychotics, antidepressants, and alpha-2 adrenergic receptor agonists. These medications provide partial symptomatic relief of core symptoms of ASD or manage the symptoms of comorbid conditions. Non-pharmacological interventions, which show promising evidence in improving social interaction and verbal communication of ASD patients, include music therapy, cognitive behavioral therapy and social behavioral therapy. Hormonal therapies with oxytocyin or vasopressin receptor antagonists have also shown some promise in improving core ASD symptoms. The use of vitamins, herbal remedies and nutritional supplements in conjunction with pharmacological and behavioral treatment appear to have some

Pre- and postnatal exposure to low dose glufosinate ammonium induces autism-like phenotypes in mice.

Science.gov (United States)

Laugeray, Anthony; Herzine, Ameziane; Perche, Olivier; Hébert, Betty; Aguillon-Naury, Marine; Richard, Olivier; Menuet, Arnaud; Mazaud-Guittot, Séverine; Lesné, Laurianne; Briault, Sylvain; Jegou, Bernard; Pichon, Jacques; Montécot-Dubourg, Céline; Mortaud, Stéphane

2014-01-01

Glufosinate ammonium (GLA) is one of the most widely used herbicides in agriculture. As is the case for most pesticides, potential adverse effects of GLA have not been studied from the perspective of developmental neurotoxicity. Early pesticides exposure may weaken the basic structure of the developing brain and cause permanent changes leading to a wide range of lifelong effects on health and/or behavior. Here, we addressed the developmental impact of GLA by exposing female mice to low dose GLA during both pre- and postnatal periods and analyzed potential developmental and behavioral changes of the offspring during infancy and adulthood. A neurobehavioral test battery revealed significant effects of GLA maternal exposure on early reflex development, pup communication, affiliative behaviors, and preference for social olfactory cues, but emotional reactivity and emotional memory remained unaltered. These behavioral alterations showed a striking resemblance to changes seen in animal models of Autistic Spectrum Disorders. At the brain level, GLA maternal exposure caused some increase in relative brain weight of the offspring. In addition, reduced expression of Pten and Peg3 - two genes implicated in autism-like deficits - was observed in the brain of GLA-exposed pups at postnatal day 15. Our work thus provides new data on the link between pre- and postnatal exposure to the herbicide GLA and the onset of autism-like symptoms later in life. It also raises fundamental concerns about the ability of current safety testing to assess risks of pesticide exposure during critical developmental periods.

phenotype correlation of methylene tetrahydrofolate reductase ...

African Journals Online (AJOL)

Rabah M. Shawky

2014-06-21

Jun 21, 2014 ... children with autism and to correlate them with different phenotypes. Subjects and ... of impairments in communication, reciprocal social interac- tions, and ... isolation was obtained from peripheral blood samples using the spin ... IQ, while ten of them (50%) had mild mental retardation and six patients (30%) ...

How nutritional status, diet and dietary supplements can affect autism. A review.

Science.gov (United States)

Kawicka, Anna; Regulska-Ilow, Bozena

2013-01-01

Autism is a neurodevelopmental disorder with symptoms arising that are apparent throughout the patient's lifespan. Autism Spectrum Disorders (ASD) are characterised by impaired social and communication interactions as well as restricted, repetitive interests and behaviour. Currently in Poland, about 50 000 people suffer from autism, of which 1/5 are children. Epidemiological studies show that the incidence of autism is increasing, which may be due to the diagnostic category of ASD having been developed. Of vital importance in the treatment of autism, is early diagnosis which is conducive to more rapidly improving the quality of patients' health. It is believed that both genetic and environmental factors may affect the development of the disease. Moreover, expert opinion emphasises the importance of making an adequate diagnosis when the first symptoms of autism start appearing which can be both psychological, gastro-intestinal and metabolic ones. Conventional treatment is based on the combination of behavioural and dietary therapy together with pharmacotherapy. For example, adapting an appropriate diet could help alleviate the disease severity, as well as the psychological and gastrointestinal symptoms. Much scientific research has indicated that pathogenesis of autism may have a beginning already in foetal life. During pregnancy, specialists should take special heed of metabolic disorders, which can increase the risk ofASD in children. One of the dietician's tasks are to properly assess the nutritional status of mothers before and during pregnancy, thereby allowing changes in nutrition to be made wherever necessary in order that metabolic indicators be improved. Thus an important part of autism therapy is the improving patient's nutritional status to prevent the onset of gastrointestinal symptoms. Adopting diets and tailored to individual disease symptoms, is linked to the nutritional requirements and food preferences of the patient. Specialists also emphasise that

Autism and Obstacles to Medical Diagnosis and Treatment: Two Case Studies

Science.gov (United States)

Smith, Marcia Datlow; Graveline, Patrick J.; Smith, Jared Brian

2012-01-01

Autism is a developmental disability that provides special challenges to families, schools, and adult support systems. An additional area that is affected by the symptoms of autism is medicine. The deficits associated with autism in the areas of communication and social skills, as well as the prevalence of challenging behavior can interfere with…

Differences Between the Childhood Autism Rating Scale and the Social Responsiveness Scale in Assessing Symptoms of Children with Autistic Spectrum Disorder.

Science.gov (United States)

Chen, Kuan-Lin; Lin, Chien-Ho; Yu, Tzu-Ying; Huang, Chien-Yu; Chen, Ying-Dar

2018-04-25

This study aimed to compare symptoms of autism spectrum disorder using the Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale (SRS™-2) and to investigate their influencing factors. The diagnostic agreement was 92.7%, but with a fair Kappa value (0.247). Children's verbal comprehension was related to the CARS scores, and no variables were related to the SRS™-2 scores. Generally, significant small correlations were found between the two measures in children with normal or borderline to below average verbal comprehension (rs = 0.32 ~ 0.49, p < .005), but not in those with impaired verbal comprehension. The CARS and the SRS™-2 may contain different explicit behaviors and collect different perspectives (i.e., those of caregivers and professionals). Therefore, they appear to complement each other.

Using the brief observation of social communication change (BOSCC) to measure autism-specific development.

Science.gov (United States)

Kitzerow, Janina; Teufel, Karoline; Wilker, Christian; Freitag, Christine M

2016-09-01

To date no reliable and objective, change sensitive instrument for autistic symptoms is available. The brief observation of social communication change (BOSCC) was specifically developed to measure change of core autistic symptoms, for example, for use as outcome measure in early intervention trials. This study investigated quality criteria of a preliminary research version of the BOSCC in N = 21 children with autism spectrum disorder (ASD) who had participated for 1 year in the Frankfurt early intervention program (FFIP). BOSCC rating was done on play based ADOS video scenes. Inter-rater agreement on the BOSCC average total was very high. The BOSCC showed a significant decrease of autistic symptoms after 1 year with a medium effect size. Symptom specific improvements were captured by the social communication subscale and most single items. The BOSCC showed comparable change sensitivity to other autism specific instruments. Future studies should focus on the finalized BOSCC version, and replicate findings in a larger sample. Autism Res 2016, 9: 940-950. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

Early Social, Imitation, Play, and Language Abilities of Young Non-Autistic Siblings of Children with Autism

Science.gov (United States)

Toth, Karen; Dawson, Geraldine; Meltzoff, Andrew N.; Greenson, Jessica; Fein, Deborah

2007-01-01

Studies are needed to better understand the broad autism phenotype in young siblings of children with autism. Cognitive, adaptive, social, imitation, play, and language abilities were examined in 42 non-autistic siblings and 20 toddlers with no family history of autism, ages 18-27 months. Siblings, as a group, were below average in expressive…

Epilepsy in autism: A pathophysiological consideration.

Science.gov (United States)

Nomura, Yoshiko; Nagao, Yuri; Kimura, Kazue; Hachimori, Kei; Segawa, Masaya

2010-11-01

Eighty cases of idiopathic autism with epilepsy and 97 cases without epilepsy were studied to evaluate the pathophysiology of epilepsy in autism. The initial visit to this clinic ranged 8months-30years 3months of age, and the current ages are 5years 8months-42years 3months, 60% reaching to over 30years of age. The average follow up duration is 22.2years±9.4years. The ages of onset of epilepsy were from 7months to 30years of age, with the two peaks at 3.2years and 16.7years. EEG central focus appeared earlier than frontal focus. Abnormality of locomotion and atonic NREM were observed more frequently in epileptic group. These suggest the neuronal system related to abnormality of locomotion and atonic NREM, which are the hypofunction of the brainstem monoaminergic system, is the pathomechanism underling the epilepsy in autism. By showing the abnormal sleep-wake rhythm and locomotion being the very initial symptoms in autism, we had shown the hypofunction of the brainstem monoaminergic system is the initial pathomechanism of autism. Thus, epilepsy in autism is not the secondary manifestation, but one of the pathognomonic symptoms of autism. The brainstem monoaminergic system project to the wider cortical area, and the initial monoaminergic hypofunction may lead to the central focus which appears earlier. The failure of the monoaminergic (serotonergic) system causes dysfunction of the pedunculo-pontine nucleus (PPN) and induces dysfunction of the dopamine (DA) system, and with development of the DA receptor supersensitivity consequently disinhibits the thalamo-frontal pathway, which after maturation of this pathway in teens cause the epileptogenesis in the frontal cortex. Copyright © 2010 Elsevier B.V. All rights reserved.

美国自闭症协会:促进全球对自闭症的认识、科研及服务%Autism Speaks Global Autism Public Health Initiative: Bridging gaps in autism awareness, research, and services around the world

Institute of Scientific and Technical Information of China (English)

Andy SHIH; Michael ROSANOFF; Simon WALLACE; Geraldine DAWSON

2009-01-01

@@ Autism is a complex neurobiological, developmental disorder that is typically diagnosed in childhood and often lasts throughout a person' s life time. Autism is part of a group of disorders known as autism spectrum disorders (ASD) characterized by varying degrees of symptom severity and impact, ranging from mild or "high-functioning" to quite severe or "low-functioning. "

Selective Disruption of Metabotropic Glutamate Receptor 5-Homer Interactions Mimics Phenotypes of Fragile X Syndrome in Mice.

Science.gov (United States)

Guo, Weirui; Molinaro, Gemma; Collins, Katie A; Hays, Seth A; Paylor, Richard; Worley, Paul F; Szumlinski, Karen K; Huber, Kimberly M

2016-02-17

Altered function of the Gq-coupled, Group 1 metabotropic glutamate receptors, specifically mGlu5, is implicated in multiple mouse models of autism and intellectual disability. mGlu5 dysfunction has been most well characterized in the fragile X syndrome mouse model, the Fmr1 knock-out (KO) mouse, where pharmacological and genetic reduction of mGlu5 reverses many phenotypes. mGlu5 is less associated with its scaffolding protein Homer in Fmr1 KO mice, and restoration of mGlu5-Homer interactions by genetic deletion of a short, dominant negative of Homer, H1a, rescues many phenotypes of Fmr1 KO mice. These results suggested that disruption of mGlu5-Homer leads to phenotypes of FXS. To test this idea, we examined mice with a knockin mutation of mGlu5 (F1128R; mGlu5(R/R)) that abrogates binding to Homer. Although FMRP levels were normal, mGlu5(R/R) mice mimicked multiple phenotypes of Fmr1 KO mice, including reduced mGlu5 association with the postsynaptic density, enhanced constitutive mGlu5 signaling to protein synthesis, deficits in agonist-induced translational control, protein synthesis-independent LTD, neocortical hyperexcitability, audiogenic seizures, and altered behaviors, including anxiety and sensorimotor gating. These results reveal new roles for the Homer scaffolds in regulation of mGlu5 function and implicate a specific molecular mechanism in a complex brain disease. Abnormal function of the metabotropic, or Gq-coupled, glutamate receptor 5 (mGlu5) has been implicated in neurodevelopmental disorders, including a genetic cause of intellectual disability and autism called fragile X syndrome. In brains of a mouse model of fragile X, mGlu5 is less associated with its binding partner Homer, a scaffolding protein that regulates mGlu5 localization to synapses and its ability to activate biochemical signaling pathways. Here we show that a mouse expressing a mutant mGlu5 that cannot bind to Homer is sufficient to mimic many of the biochemical, neurophysiological, and

Symptom Profile of Attention-Deficit/Hyperactivity Disorder in Youth with High-functioning Autism Spectrum Disorder: A Comparative Study in Psychiatrically Referred Populations

Science.gov (United States)

Joshi, Gagan; Faraone, Stephen V.; Wozniak, Janet; Tarko, Laura; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L.; Biederman, Joseph

2014-01-01

Objective To compare the clinical presentation of ADHD between youth with autism spectrum disorder (ASD) and ADHD and a sample of youth with ADHD only. Method A psychiatrically referred sample of autism spectrum disorder (ASD) youth with ADHD attending a specialized ambulatory program for ASD (n = 107) and a sample of youth with ADHD attending a general child psychiatry ambulatory clinic (n = 74) were compared. Results Seventy-six percent of youth with ASD met Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) criteria for ADHD. The clinical presentation of ADHD in youth with ASD was predominantly similar to its typical presentation including age at onset (3.5 ± 1.7 vs. 4.0 ± 1.9; p = .12), distribution of diagnostic subtypes, the qualitative and quantitative symptom profile, and symptom severity. Combined subtype was the most frequent presentation of ADHD in ASD youth. Conclusion Despite the robust presentation of ADHD, a significant majority of ASD youth with ADHD failed to receive appropriate ADHD treatment (41% vs. 24%; p = .02). A high rate of comorbidity with ADHD was observed in psychiatrically referred youth with ASD, with a clinical presentation typical of the disorder. PMID:25085653

Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism

Science.gov (United States)

2012-10-01

Theory of Mind .” MIT Press, Cambridge. Baron-Cohen, S., Campbell, R., Karmiloff-Smith, A., Grant, J., Walker, J. (1999). Are children with autism ...the age of 3 years (1). Autism is heterogeneous, both phenotypically and etiologically. In 44.6% of affected children , autism is associated with cogni...confirmed a high prevalence of autism ; 20 (69%) of 29 children and young adults with idic(15) had an ASD (29). TABLE 1. Material Examined Group Case No

Loneliness, friendship, and well-being in adults with autism spectrum disorders.

Science.gov (United States)

Mazurek, Micah O

2014-04-01

This study examined the relations among loneliness, friendship, and emotional functioning in adults (N = 108) with autism spectrum disorders. Participants completed self-report measures of symptoms of autism spectrum disorders, loneliness, number and nature of friendships, depression, anxiety, life satisfaction, and self-esteem. The results indicated that loneliness was associated with increased depression and anxiety and decreased life satisfaction and self-esteem, even after controlling for symptoms of autism spectrum disorders. In addition, greater quantity and quality of friendships were associated with decreased loneliness among adults with autism spectrum disorders. Multivariate models indicated that friendship did not moderate the relationship between loneliness and well-being; however, number of friends provided unique independent effects in predicting self-esteem, depression, and anxiety above and beyond the effects of loneliness. This was the first study to examine the relations among these aspects of social and emotional functioning in adults with autism spectrum disorders, and the results indicate that this topic warrants further clinical and research attention.

The Neuroanatomy of Autism Spectrum Disorder: An Overview of Structural Neuroimaging Findings and Their Translatability to the Clinical Setting

Science.gov (United States)

Ecker, Christine

2017-01-01

Autism spectrum disorder is a complex neurodevelopmental disorder, which is accompanied by differences in brain anatomy, functioning and brain connectivity. Due to its neurodevelopmental character, and the large phenotypic heterogeneity among individuals on the autism spectrum, the neurobiology of autism spectrum disorder is inherently difficult…

Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments.

Science.gov (United States)

Veenstra-VanderWeele, Jeremy; Blakely, Randy D

2012-01-01

Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder affecting approximately 1% of children. ASD is defined by core symptoms in two domains: negative symptoms of impairment in social and communication function, and positive symptoms of restricted and repetitive behaviors. Available treatments are inadequate for treating both core symptoms and associated conditions. Twin studies indicate that ASD susceptibility has a large heritable component. Genetic studies have identified promising leads, with converging insights emerging from single-gene disorders that bear ASD features, with particular interest in mammalian target of rapamycin (mTOR)-linked synaptic plasticity mechanisms. Mouse models of these disorders are revealing not only opportunities to model behavioral perturbations across species, but also evidence of postnatal rescue of brain and behavioral phenotypes. An intense search for ASD biomarkers has consistently pointed to elevated platelet serotonin (5-HT) levels and a surge in brain growth in the first 2 years of life. Following a review of the diversity of ASD phenotypes and its genetic origins and biomarkers, we discuss opportunities for translation of these findings into novel ASD treatments, focusing on mTor- and 5-HT-signaling pathways, and their possible intersection. Paralleling the progress made in understanding the root causes of rare genetic syndromes that affect cognitive development, we anticipate progress in models systems using bona fide ASD-associated molecular changes that have the potential to accelerate the development of ASD diagnostics and therapeutics.

The Relationship between Autism Symptoms and Arousal Level in Toddlers with Autism Spectrum Disorder, as Measured by Electrodermal Activity

Science.gov (United States)

Prince, Emily Barbara; Kim, Elizabeth S.; Wall, Carla Anne; Gisin, Eugenia; Goodwin, Matthew S.; Simmons, Elizabeth Schoen; Chawarska, Kaisa; Shic, Frederick

2017-01-01

Electrodermal activity was examined as a measure of physiological arousal within a naturalistic play context in 2-year-old toddlers (N = 27) with and without autism spectrum disorder. Toddlers with autism spectrum disorder were found to have greater increases in skin conductance level than their typical peers in response to administered play…

The Picture Exchange Communication System and his application of child with autism spectrum disorder

OpenAIRE

Kozlová, Veronika

2011-01-01

The bachelor thesis with title "The Picture Exchange Communication System and his application of child with autism spectrum disorder", deals with problems in communication of the children with autism spectrum disorders. One of the goals of the thesis is to submit a comprehensive overview of the essential knowledge of autism, history of autism, typical triad of symptoms (characteristic features of children with autism), etiology, and dividing autism by the adaptability. Another goal is to intr...

Effects of symptoms of co-morbid psychopathology on challenging behaviours among infants and toddlers with Autistic Disorder and PDD-NOS as assessed with the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT).

Science.gov (United States)

Matson, Johnny L; Mahan, Sara; Fodstad, Jill C; Worley, Julie A; Neal, Daniene; Sipes, Megan

2011-01-01

To examine whether level of symptoms of co-morbid psychopathology exacerbated challenging behaviours in young children with autism spectrum disorders (ASD). Using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT)-Part 2 which measures co-morbid symptoms and the BISCUIT- Part 3 which examines challenging behaviours, 362 infants and toddlers with ASD were evaluated. Findings showed that participants scoring high on symptoms of Avoidance and Tantrum/Conduct problems had greater rates of aggressive/destructive behaviours, self-injurious behaviours (SIB) and stereotypies compared to those with low scores. Participants with high levels of Inattention/Impulsivity or Eat/Sleep concerns, compared to those with low levels, demonstrated greater aggressive/destructive behaviour and stereotypies. For symptoms of Anxiety/Repetitive Behaviours, participants with high scores displayed greater levels of stereotypies. Symptoms of co-morbid psychopathology are present at a very early age for children with ASD and elevated levels of these symptoms may exacerbate challenging behaviours.

The nature of stable insomnia phenotypes.

Science.gov (United States)

Pillai, Vivek; Roth, Thomas; Drake, Christopher L

2015-01-01

We examined the 1-y stability of four insomnia symptom profiles: sleep onset insomnia; sleep maintenance insomnia; combined onset and maintenance insomnia; and neither criterion (i.e., insomnia cases that do not meet quantitative thresholds for onset or maintenance problems). Insomnia cases that exhibited the same symptom profile over a 1-y period were considered to be phenotypes, and were compared in terms of clinical and demographic characteristics. Longitudinal. Urban, community-based. Nine hundred fifty-four adults with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition based current insomnia (46.6 ± 12.6 y; 69.4% female). None. At baseline, participants were divided into four symptom profile groups based on quantitative criteria. Follow-up assessment 1 y later revealed that approximately 60% of participants retained the same symptom profile, and were hence judged to be phenotypes. Stability varied significantly by phenotype, such that sleep onset insomnia (SOI) was the least stable (42%), whereas combined insomnia (CI) was the most stable (69%). Baseline symptom groups (cross-sectionally defined) differed significantly across various clinical indices, including daytime impairment, depression, and anxiety. Importantly, however, a comparison of stable phenotypes (longitudinally defined) did not reveal any differences in impairment or comorbid psychopathology. Another interesting finding was that whereas all other insomnia phenotypes showed evidence of an elevated wake drive both at night and during the day, the 'neither criterion' phenotype did not; this latter phenotype exhibited significantly higher daytime sleepiness despite subthreshold onset and maintenance difficulties. By adopting a stringent, stability-based definition, this study offers timely and important data on the longitudinal trajectory of specific insomnia phenotypes. With the exception of daytime sleepiness, few clinical differences are apparent across stable phenotypes. �

Autistic Traits in Couple Dyads as a Predictor of Anxiety Spectrum Symptoms

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Lau, Winnie Yu-Pow; Gau, Susan Shur-Fen; Chiu, Yen-Nan; Wu, Yu-Yu

2014-01-01

The link between parental autistic tendency and anxiety symptoms was studied in 491 Taiwanese couples raising biological children with autism spectrum disorders (ASDs). Parental autistic tendency as measured by Autism Spectrum Quotient (AQ) was associated with anxiety symptoms across all domains. Large effect sizes were found in social phobia and…

The duplication 17p13.3 phenotype

DEFF Research Database (Denmark)

Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica

2013-01-01

. Older patients were often overweight. Three variant phenotypes included cleft lip/palate (CLP), split hand/foot with long bone deficiency (SHFLD), and a connective tissue phenotype resembling Marfan syndrome. The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype......Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasional brain MRI abnormalities. We report 34...... was associated with duplication of BHLHA9 as noted in two recent reports. The connective tissue phenotype did not have a convincing critical region. Our experience with this large cohort expands knowledge of this diverse duplication syndrome....

Correlation between Nutrition and Symptoms: Nutritional Survey of Children with Autism Spectrum Disorder in Chongqing, China

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Xiao Liu

2016-05-01

Full Text Available Restricted diets and inadequate nutrient intake of children with autism spectrum disorder (ASD have been reported. This study examined the nutritional statuses of children with ASD and the relationships between their behaviors and nutritional intake. A total of 154 children with ASD (age = 5.21 ± 1.83 years and 73 typically-developing (TD children (age = 4.83 ± 0.84 years from Chongqing, China, were enrolled. The severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS. The serum ferritin, folate, vitamin B12, 25(OH vitamin D, and vitamin A concentrations in the children with ASD were determined. All participants underwent anthropometric examinations, dietary assessments, and questionnaire assessments about their feeding behaviors, and gastrointestinal symptoms. The ZHA, ZWA, and ZBMIA were found to be significantly lower in the children with ASD compared with those without ASD. In addition, the percentages of children exhibiting severe picky eating and severe resistance to new foods, as well as those with a reported general impression of severe eating problems and constipation, were higher among the children with ASD. These children consumed significantly fewer macronutrients compared with the children without ASD. In addition, the children with ASD had the highest rate of vitamin A deficiency, followed by iron deficiency. After adjusting for sex, the vitamin A concentration was found to be negatively correlated with the CARS score (rs = −0.222, p = 0.021. No correlation between the ferritin, folate, vitamin D, or vitamin B12 concentration and the CARS score was found. These results suggest that reduced macronutrient intakes, severe feeding behavior issues, constipation, and vitamin A deficiency are quite common among children with ASD. Further, a low serum vitamin A level may be a risk factor for symptoms of ASD. However, the underlying mechanism should be further studied.

Gluten-free and casein-free diets in the therapy of autism.

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Lange, Klaus W; Hauser, Joachim; Reissmann, Andreas

2015-11-01

The purpose of this study is to discuss the role of gluten-free and casein-free diets in the treatment of autism. In a recent UK survey, more than 80% of parents of children with autism spectrum disorder reported some kind of dietary intervention for their child (gluten-free and casein-free diet in 29%). When asked about the effects of the gluten-free and casein-free diet, 20-29% of the parents reported significant improvements on the autism spectrum disorder core dimensions. The findings of this study suggest additional effects of a gluten-free and casein-free diet on comorbid problems of autism such as gastrointestinal symptoms, concentration, and attention. The findings of another recent investigation suggested that age and certain urine compounds may predict the response of autism symptoms to a gluten-free and casein-free diet. Although these results need to be replicated, they highlight the importance of patient subgroup analysis. Intervention trials evaluating the effects of a gluten-free and casein-free diet on autistic symptoms have so far been contradictory and inconclusive. Most investigations assessing the efficacy of a gluten-free and casein-free diet in the treatment of autism are seriously flawed. The evidence to support the therapeutic value of this diet is limited and weak. A gluten-free and casein-free diet should only be administered if an allergy or intolerance to nutritional gluten or casein is diagnosed.

Increased Epidermal Growth Factor Receptor (EGFR Associated with Hepatocyte Growth Factor (HGF and Symptom Severity in Children with Autism Spectrum Disorders (ASDs

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Anthony J. Russo

2014-01-01

Full Text Available Background One in 88 children in the US is thought to have one of the autism spectrum disorders (ASDs. ASDs are characterized by social impairments and communication problems. Growth factors and their receptors may play a role in the etiology of ASDs. Research has shown that epidermal growth factor receptor (EGFR activation is associated with nerve cell development and repair. This study was designed to measure plasma levels of EGFR in autistic children and correlate these levels with its ligand, epidermal growth factor, other related putative biomarkers such as hepatocyte growth factor (HGF, the ligand for MET (MNNG HOS transforming gene receptor, as well as the symptom severity of 19 different behavioral symptoms. Subjects and Methods Plasma EGFR concentration was measured in 33 autistic children and 34 age- and gender-similar neurotypical controls, using an enzyme-linked immunosorbent assay. Plasma EGFR levels were compared to putative biomarkers known to be associated with EGFR and MET and severity levels of 19 autism-related symptoms. Results We found plasma EGFR levels significantly higher in autistic children, when compared to neurotypical controls. EGFR levels correlated with HGF and high-mobility group protein B1 (HMGB1 levels, but not other tested putative biomarkers, and EGFR levels correlated significantly with severity of expressive language, conversational language, focus/attention, hyperactivity, eye contact, and sound sensitivity deficiencies. Conclusions These results suggest a relationship between increased plasma EGFR levels and designated symptom severity in autistic children. A strong correlation between plasma EGFR and HGF and HMGB1 suggests that increased EGFR levels may be associated with the HGF/Met signaling pathway, as well as inflammation.

SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0-5).

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Soto, Timothy; Giserman Kiss, Ivy; Carter, Alice S

2016-09-01

Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development. © 2016 Michigan Association for Infant Mental Health.

Parent-Child Interaction Synchrony for Infants At-Risk for Autism Spectrum Disorder.

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Steiner, Amanda Mossman; Gengoux, Grace W; Smith, Amanda; Chawarska, Katarzyna

2018-06-01

This study investigated interactions between parents and 12-month-old infants at high (HR-SIBS; n = 27) and low (LR-SIBS; n = 14) familial risk for autism spectrum disorder (ASD). The contributions of parental variables, as well as child's autism symptom severity and verbal skills, to the parent interaction style were examined. Parents of HR-SIBS exhibited a higher level of synchronous-demanding behaviors, which was associated with parental report of atypical mood in the infant, but not with autism symptom severity, verbal skills, or parental depressive symptoms. These preliminary findings suggest a need for further investigation into HR-SIBS' emotional development and parental perception of that development, as these factors may shape parent-child interaction and influence the effectiveness of parent-assisted early intervention programs.

[Voxel-Based Morphometry in Autism Spectrum Disorder].

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Yamasue, Hidenori

2017-05-01

Autism spectrum disorder shows deficits in social communication and interaction including nonverbal communicative behaviors (e.g., eye contact, gestures, voice prosody, and facial expressions) and restricted and repetitive behaviors as its core symptoms. These core symptoms are emerged as an atypical behavioral development in toddlers with the disorder. Atypical neural development is considered to be a neural underpinning of such behaviorally atypical development. A number of studies using voxel-based morphometry have already been conducted to compare regional brain volumes between individuals with autism spectrum disorder and those with typical development. Furthermore, more than ten papers employing meta-analyses of the comparisons using voxel based morphometry between individuals with autism spectrum disorder and those with typical development have already been published. The current review paper adds some brief discussions about potential factors contributing to the inconsistency observed in the previous findings such as difficulty in controlling the confounding effects of different developmental phases among study participants.

Parental Stress and ASD: Relationship with Autism Symptom Severity, IQ, and Resilience

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Pastor-Cerezuela, Gemma; Fernández-Andrés, M. Inmaculada; Tárraga-Mínguez, Raúl; Navarro-Peña, J. Miguel

2016-01-01

The objectives of this study were (a) to evaluate parental stress in parents of children with autism spectrum disorders (ASD group) and compare it with the stress in parents of children with typical development (comparison group); (b) to study the relationship between parental stress, autism severity, and both verbal and performance IQ; and (c) to…

Differentiating Communication Disorders and Autism in Children

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Matson, Johnny L.; Neal, Daniene

2010-01-01

The diagnosis of autism and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), particularly in young children has become a top priority in the fields of mental health and education. Core symptoms include rituals and stereotypies, social skills deficits, and problems in communication. Considerable overlap exists in symptoms for…

Brief Report: Autism-Like Traits Are Associated with Enhanced Ability to Disembed Visual Forms

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Sabatino DiCriscio, Antoinette; Troiani, Vanessa

2017-01-01

Atypical visual perceptual skills are thought to underlie unusual visual attention in autism spectrum disorders. We assessed whether individual differences in visual processing skills scaled with quantitative traits associated with the broader autism phenotype (BAP). Visual perception was assessed using the Figure-ground subtest of the Test of…

Speech of people with autism: Echolalia and echolalic speech

OpenAIRE

Błeszyński, Jacek Jarosław

2013-01-01

Speech of people with autism is recognised as one of the basic diagnostic, therapeutic and theoretical problems. One of the most common symptoms of autism in children is echolalia, described here as being of different types and severity. This paper presents the results of studies into different levels of echolalia, both in normally developing children and in children diagnosed with autism, discusses the differences between simple echolalia and echolalic speech - which can be considered to b...

Psychiatric Symptoms in Youth with a History of Autism and Optimal Outcome

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Orinstein, Alyssa; Tyson, Katherine E.; Suh, Joyce; Troyb, Eva; Helt, Molly; Rosenthal, Michael; Barton, Marianne L.; Eigsti, Inge-Marie; Kelley, Elizabeth; Naigles, Letitia; Schultz, Robert T.; Stevens, Michael C.; Fein, Deborah A.

2015-01-01

Since autism spectrum disorder (ASD) is often comorbid with psychiatric disorders, children who no longer meet criteria for ASD (optimal outcome; OO) may still be at risk for psychiatric disorders. A parent interview for DSM-IV psychiatric disorders (K-SADS-PL) for 33 OO, 42 high-functioning autism (HFA) and 34 typically developing (TD) youth,…

Proteomic Mapping of the Immune Response to Gluten in Children with Autism

Science.gov (United States)

2015-10-01

AWARD NUMBER: W81XWH-14-1-0293 TITLE: Proteomic Mapping of the Immune Response to Gluten in Children with Autism PRINCIPAL INVESTIGATOR...Sep 2014 – 29 Sep 2015 4. TITLE AND SUBTITLE Proteomic Mapping of the Immune Response to Gluten in Children with Autism 5a. CONTRACT NUMBER 5b. GRANT...gastrointestinal (GI) symptoms and defects in GI function in the context of autism . Our newly published data indicate that children with autism exhibit

Anxiety Symptoms in Young People with Autism Spectrum Disorder Attending Special Schools: Associations with Gender, Adaptive Functioning and Autism Symptomatology

Science.gov (United States)

Magiati, Iliana; Ong, Clarissa; Lim, Xin Yi; Tan, Julianne Wen-Li; Ong, Amily Yi Lin; Patrycia, Ferninda; Fung, Daniel Shuen Sheng; Sung, Min; Poon, Kenneth K.; Howlin, Patricia

2016-01-01

Anxiety-related problems are among the most frequently reported mental health difficulties in autism spectrum disorder. As most research has focused on clinical samples or high-functioning children with autism spectrum disorder, less is known about the factors associated with anxiety in community samples across the ability range. This…

Adult Autism Subthreshold Spectrum (AdAS Spectrum): Validation of a questionnaire investigating subthreshold autism spectrum.

Science.gov (United States)

Dell'Osso, L; Gesi, C; Massimetti, E; Cremone, I M; Barbuti, M; Maccariello, G; Moroni, I; Barlati, S; Castellini, G; Luciano, M; Bossini, L; Rocchetti, M; Signorelli, M; Aguglia, E; Fagiolini, A; Politi, P; Ricca, V; Vita, A; Carmassi, C; Maj, M

2017-02-01

Increasing literature has shown the usefulness of a dimensional approach to autism. The present study aimed to determine the psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum), a new questionnaire specifically tailored to assess subthreshold forms of autism spectrum disorder (ASD) in adulthood. 102 adults endorsing at least one DSM-5 symptom criterion for ASD (ASDc), 143 adults diagnosed with a feeding and eating disorder (FED), and 160 subjects with no mental disorders (CTL), were recruited from 7 Italian University Departments of Psychiatry and administered the following: SCID-5, Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale 14-item version (RAADS-14), and AdAS Spectrum. The AdAS Spectrum demonstrated excellent internal consistency for the total score (Kuder-Richardson's coefficient=.964) as well as for five out of seven domains (all coefficients>.80) and sound test-retest reliability (ICC=.976). The total and domain AdAS Spectrum scores showed a moderate to strong (>.50) positive correlation with one another and with the AQ and RAADS-14 total scores. ASDc subjects reported significantly higher AdAS Spectrum total scores than both FED (pcriteria (FED 0 ) and those with one ASD symptom criterion (FED 1 ) , a gradient of severity in AdAS Spectrum scores from CTL subjects to ASD patients, across FED 0 , ASD 1 , FED 1 was shown. The AdAS Spectrum showed excellent internal consistency and test-retest reliability and strong convergent validity with alternative dimensional measures of ASD. The questionnaire performed differently among the three diagnostic groups and enlightened some significant effects of gender in the expression of autistic traits. Copyright © 2016 Elsevier Inc. All rights reserved.

The Nature of Stable Insomnia Phenotypes

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Pillai, Vivek; Roth, Thomas; Drake, Christopher L.

2015-01-01

Study Objectives: We examined the 1-y stability of four insomnia symptom profiles: sleep onset insomnia; sleep maintenance insomnia; combined onset and maintenance insomnia; and neither criterion (i.e., insomnia cases that do not meet quantitative thresholds for onset or maintenance problems). Insomnia cases that exhibited the same symptom profile over a 1-y period were considered to be phenotypes, and were compared in terms of clinical and demographic characteristics. Design: Longitudinal. Setting: Urban, community-based. Participants: Nine hundred fifty-four adults with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition based current insomnia (46.6 ± 12.6 y; 69.4% female). Interventions: None. Measurements and results: At baseline, participants were divided into four symptom profile groups based on quantitative criteria. Follow-up assessment 1 y later revealed that approximately 60% of participants retained the same symptom profile, and were hence judged to be phenotypes. Stability varied significantly by phenotype, such that sleep onset insomnia (SOI) was the least stable (42%), whereas combined insomnia (CI) was the most stable (69%). Baseline symptom groups (cross-sectionally defined) differed significantly across various clinical indices, including daytime impairment, depression, and anxiety. Importantly, however, a comparison of stable phenotypes (longitudinally defined) did not reveal any differences in impairment or comorbid psychopathology. Another interesting finding was that whereas all other insomnia phenotypes showed evidence of an elevated wake drive both at night and during the day, the “neither criterion” phenotype did not; this latter phenotype exhibited significantly higher daytime sleepiness despite subthreshold onset and maintenance difficulties. Conclusions: By adopting a stringent, stability-based definition, this study offers timely and important data on the longitudinal trajectory of specific insomnia phenotypes. With

Differentiating High-Functioning Autism and Social Phobia

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Tyson, Katherine E.; Cruess, Dean G.

2012-01-01

Both high-functioning autism (HFA) and social phobia (SP) involve profound social interaction deficits. Although these disorders share some similar symptoms, they are conceptualized as distinct. Because both HFA and SP are defined behaviorally, the degree of overlap between the two disorders may result in misinterpretation of symptoms. However,…

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

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van Rijn, Sophie; Swaab, Hanna; Aleman, Andre; Kahn, Rene S.

2008-01-01

Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome. Scores of 31 XXY men on the Scale for Interpersonal Behavior and the Autism Spectrum Questionnaire were compared to 24…

Dietary docosahexaenoic acid supplementation in children with autism.

Science.gov (United States)

Voigt, Robert G; Mellon, Michael W; Katusic, Slavica K; Weaver, Amy L; Matern, Dietrich; Mellon, Bryan; Jensen, Craig L; Barbaresi, William J

2014-06-01

The aim of the study was to determine whether docosahexaenoic acid (DHA) supplementation improves the behavior of children with autism. A group of 3- to 10-year-old children with autism were randomized in a double-blind fashion to receive a supplement containing 200 mg of DHA or a placebo for 6 months. The parents and the investigator completed the Clinical Global Impressions-Improvement scale to rate changes in core symptoms of autism after 3 and 6 months. The parents completed the Child Development Inventory and the Aberrant Behavior Checklist, and both parents and teachers completed the Behavior Assessment Scale for Children (BASC) at enrollment and after 6 months. A total of 48 children (40 [83%] boys, mean age [standard deviation] 6.1 [2.0] years) were enrolled; 24 received DHA and 24 placebo. Despite a median 431% increase in total plasma DHA levels after 6 months, the DHA group was not rated as improved in core symptoms of autism compared to the placebo group on the CGI-I. Based on the analysis of covariance models adjusted for the baseline rating scores, parents (but not teachers) provided a higher average rating of social skills on the BASC for the children in the placebo group compared to the DHA group (P = 0.04), and teachers (but not parents) provided a higher average rating of functional communication on the BASC for the children in the DHA group compared to the placebo group (P = 0.02). Dietary DHA supplementation of 200 mg/day for 6 months does not improve the core symptoms of autism. Our results may have been limited by inadequate sample size.

Lifetime Autism Spectrum Features in a Patient with a Psychotic Mixed Episode Who Attempted Suicide

Directory of Open Access Journals (Sweden)

Marly Simoncini

2014-01-01

Full Text Available We present a case report of a young man who attempted suicide during a mixed episode with psychotic symptoms. The patient’s history revealed the lifetime presence of signs and features belonging to the autism spectrum realm that had been completely overlooked. We believe that this case is representative of an important and barely researched topic: what happens to children with nondiagnosed and nontreated subthreshold forms of autism when they grow old. The issue of early recognition of autism spectrum signs and symptoms is discussed, raising questions on the diagnostic boundaries between autism and childhood onset psychotic spectrums among patients who subsequently develop a full-blown psychotic disorder.

Unexpected subthreshold autism spectrum in a 25-year-old male stalker hospitalized for delusional disorder: a case report.

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Dell'Osso, Liliana; Dalle Luche, Riccardo; Cerliani, Corrado; Bertelloni, Carlo Antonio; Gesi, Camilla; Carmassi, Claudia

2015-08-01

This paper highlights the clinical challenges faced when assessing patients with stalking behaviors with psychotic disorders, suggesting the need for an accurate assessment of adult autism spectrum symptoms. A 25-year-old man with a diagnosis of delusional disorder, erotomanic type, was hospitalized for acute psychotic symptoms occurred in the framework of a repeated stalking behavior towards his ex girlfriend. When assessed for adult autism spectrum symptoms upon an accurate clinical evaluation, he reported elevated scores in the mentalizing deficit and social anxiety domains by means of the 14 item Ritvo Autism and Asperger Diagnostic Scale (RAADS-14). Authors discuss a possible role of adult (subthreshold) autism spectrum symptoms, generally disregarded in adult psychiatry, on the type of psychotic features and stalking behavior developed that may help for appropriate diagnosis and treatment. Copyright © 2015 Elsevier Inc. All rights reserved.

Cross-cultural differences in comorbid symptoms of children with autism spectrum disorders: an international examination between Israel, South Korea, the United Kingdom and the United States of America.

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Zachor, Ditza; Yang, Jae-Won; Itzchak, Esther Ben; Furniss, Frederick; Pegg, Elinor; Matson, Johnny L; Horovitz, Max; Sipes, Megan; Chung, Kyong-Mee; Jung, Woohyun

2011-01-01

To examine the relationship between culture and symptoms of comorbid psychopathology in those with autism spectrum disorders (ASD). Multivariate analyses of variance (MANOVAs) for each country and each sub-scale of the Autism Spectrum Disorders-Comorbid for Children (ASD-CC). Follow-up independent univariate analyses and post-hoc tests as needed. Separate samples from South Korea, the UK and Israel were compared to a sample from the US in order to examine cultural contributions, using the ASD-CC. Overall, few differences were found. Significantly, the US had significantly higher scores than South Korea on the avoidant sub-scale. Additionally, the US had significantly higher scores than Israel on the over-eating and tantrum sub-scales. No significant differences were found between the US and the UK. Cultural factors, such as views of typical behaviour, should be taken into account when examining symptoms of comorbidity in children with ASD.

Symptom Recognition to Diagnosis of Autism in Nepal

Science.gov (United States)

Shrestha, Merina; Shrestha, Rena

2014-01-01

Awareness and knowledge about autism is almost non-existent in Nepal. Children who eventually get the diagnosis often miss their opportunity for early intervention. The current study shows that medical help was seeked at mean age of 27.9 + 14.5 months and most of them were for delayed language and the first preference for parents were…

The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD.

Science.gov (United States)

van Steijn, Daphne J; Richards, Jennifer S; Oerlemans, Anoek M; de Ruiter, Saskia W; van Aken, Marcel A G; Franke, Barbara; Buitelaar, Jan K; Rommelse, Nanda N J

2012-09-01

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) share about 50-72% of their genetic factors, which is the most likely explanation for their frequent co-occurrence within the same patient or family. An additional or alternative explanation for the co-occurrence may be (cross-)assortative mating, e.g., the tendency to choose a partner that is similar or dissimilar to oneself. Another issue is that of parent-of-origin effect which refers to the possibility of parents differing in the relative quantity of risk factors they transmit to the offspring. The current study sets out to examine (cross-)assortative mating and (cross-)parent-of-origin effects of ASD and ADHD in parents of children with either ASD or ASD with ADHD diagnosis. In total, 121 families were recruited in an ongoing autism-ADHD family genetics project. Participating families consisted of parents and at least one child aged between 2 and 20 years, with either autistic disorder, Asperger disorder or PDD-NOS, and one or more biological siblings. All children and parents were carefully screened for the presence of ASD and ADHD. No correlations were found between maternal and paternal ASD and ADHD symptoms. Parental ASD and ADHD symptoms were predictive for similar symptoms in the offspring, but with maternal hyperactive-impulsive symptoms, but not paternal symptoms, predicting similar symptoms in daughters. ASD pathology in the parents was not predictive for ADHD pathology in the offspring, but mother's ADHD pathology was predictive for offspring ASD pathology even when corrected for maternal ASD pathology. Cross-assortative mating for ASD and ADHD does not form an explanation for the frequent co-occurrence of these disorders within families. Given that parental ADHD is predictive of offspring' ASD but not vice versa, risk factors underlying ASD may overlap to a larger degree with risk factors underlying ADHD than vice versa. However, future research is needed to clarify

Loneliness, Friendship, and Well-Being in Adults with Autism Spectrum Disorders

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Mazurek, Micah O.

2014-01-01

This study examined the relations among loneliness, friendship, and emotional functioning in adults "(N" = 108) with autism spectrum disorders. Participants completed self-report measures of symptoms of autism spectrum disorders, loneliness, number and nature of friendships, depression, anxiety, life satisfaction, and self-esteem. The…

[Autism and epigenetics. A model of explanation for the understanding of the genesis in autism spectrum disorders].

Science.gov (United States)

Arberas, Claudia; Ruggieri, Víctor

2013-01-01

Autism spectrum disorders are characterized by impairment of social integration and language development and restricted interests. Autism spectrum disorders manifest during childhood and may have a varying clinical expression over the years related to different therapeutic approaches, behavior-modifying drugs, and environmental factors, among others. So far, the genetic alterations identified are not sufficient to explain the genesis of all these processes, as many of the mutations found are also present in unaffected individuals. Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such as Rett, fragile X, Angelman, and fetal alcohol syndromes, point to the role of epigenetic changes in disorders of neurodevelopment. Epigenetic phenomena are normal biological processes necessary for cell and thus human life, especially related to embryonic development. Different phenomena that affect epigenetic processes (changes that change operation or expression of a gene, without modifying the DNA structure) have also been shown to be important in the genesis of neurodevelopmental disorders. Alterations in the epigenetic mechanism may be reversible, which may explain the variation in the autism phenotype over time. Here we analyze the normal epigenetic mechanisms, autism spectrum disorders, their association with specific entities associated with altered epigenetic mechanisms, and possible therapeutic approaches targeting these alterations.

Neuroanatomic alterations and social and communication deficits in monozygotic twins discordant for autism disorder.

Science.gov (United States)

Mitchell, Shanti R; Reiss, Allan L; Tatusko, Danielle H; Ikuta, Ichiro; Kazmerski, Dana B; Botti, Jo-Anna C; Burnette, Courtney P; Kates, Wendy R

2009-08-01

Investigating neuroanatomic differences in monozygotic twins who are discordant for autism can help unravel the relative contributions of genetics and environment to this pervasive developmental disorder. The authors used magnetic resonance imaging (MRI) to investigate several brain regions of interest in monozygotic twins who varied in degree of phenotypic discordance for narrowly defined autism. The subjects were 14 pairs of monozygotic twins between the ages of 5 and 14 years old and 14 singleton age- and gender-matched typically developing comparison subjects. The monozygotic twin group was a cohort of children with narrowly defined autistic deficits and their co-twins who presented with varying levels of autistic deficits. High-resolution MRIs were acquired and volumetric/area measurements obtained for the frontal lobe, amygdala, and hippocampus and subregions of the prefrontal cortex, corpus callosum, and cerebellar vermis. No neurovolumetric/area differences were found between twin pairs. Relative to typically developing comparison subjects, dorsolateral prefrontal cortex volumes and anterior areas of the corpus callosum were significantly altered in autistic twins, and volumes of the posterior vermis were altered in both autistic twins and co-twins. Intraclass correlation analysis of brain volumes between children with autism and their co-twins indicated that the degree of within-pair neuroanatomic concordance varied with brain region. In the group of subjects with narrowly defined autism only, dorsolateral prefrontal cortex, amygdala, and posterior vermis volumes were significantly associated with the severity of autism based on scores from the Autism Diagnostic Observation Schedule-Generic. These findings support previous research demonstrating alterations in the prefrontal cortex, corpus callosum, and posterior vermis in children with autism and further suggest that alterations are associated with the severity of the autism phenotype. Continued research

Functional neuroimaging and childhood autism

Energy Technology Data Exchange (ETDEWEB)

Boddaert, Nathalie [Service de Radiologie Pediatrique, Necker-Enfants Malades Hospital, Paris (France); Service Hospitalier Frederic Joliot, DRM, DSV, CEA, Orsay (France); Zilbovicius, Monica [Service Hospitalier Frederic Joliot, DRM, DSV, CEA, Orsay (France); INSERM, Tours [France

2002-01-01

Childhood autism is now widely viewed as being of developmental neurobiological origin. Yet, localised structural and functional brain correlates of autism have to be established. Structural brain-imaging studies performed in autistic patients have reported abnormalities such as increased total brain volume and cerebellar abnormalities. However, none of these abnormalities fully account for the full range of autistic symptoms. Functional brain imaging, such as positron emission tomography (PET), single photon emission computed tomography (SPECT) and functional MRI (fMRI) have added a new perspective to the study of normal and pathological brain functions. In autism, functional studies have been performed at rest or during activation. However, first-generation functional imaging devices were not sensitive enough to detect any consistent dysfunction. Recently, with improved technology, two independent groups have reported bilateral hypoperfusion of the temporal lobes in autistic children. In addition, activation studies, using perceptive and cognitive paradigms, have shown an abnormal pattern of cortical activation in autistic patients. These results suggest that different connections between particular cortical regions could exist in autism. The purpose of this review is to present the main results of rest and activation studies performed in autism. (orig.)

[Infantile autism and mirror neurons].

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Cornelio-Nieto, J O

2009-02-27

Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

Autism Spectrum Disorder: Does Neuroimaging Support the DSM-5 Proposal for a Symptom Dyad? A Systematic Review of Functional Magnetic Resonance Imaging and Diffusion Tensor Imaging Studies

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Pina-Camacho, Laura; Villero, Sonia; Fraguas, David; Boada, Leticia; Janssen, Joost; Navas-Sanchez, Francisco J.; Mayoral, Maria; Llorente, Cloe; Arango, Celso; Parellada, Mara

2012-01-01

A systematic review of 208 studies comprising functional magnetic resonance imaging and diffusion tensor imaging data in patients with "autism spectrum disorder" (ASD) was conducted, in order to determine whether these data support the forthcoming DSM-5 proposal of a social communication and behavioral symptom dyad. Studies consistently reported…

Increased Glutamate and Homocysteine and Decreased Glutamine Levels in Autism: A Review and Strategies for Future Studies of Amino Acids in Autism

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Ahmad Ghanizadeh

2013-01-01

Full Text Available There are many reports about the significant roles of some amino acids in neurobiology and treatment of autism. This is a critical review of amino acids levels in autism. No published review article about the level of amino acids in autism was found. The levels of glutamate and homocystein are increased in autism while the levels of glutamine and tryptophan are decreased. Findings regarding the plasma levels of taurine and lysine are controversial. The urinary levels of homocysteine and essential amino acids in both the untreated and treated autistic children are significantly less than those in the controls. The current literature suffers from many methodological shortcomings which needed to be considered in future studies. Some of them are age, gender, developmental level, autism symptoms severity, type of autism spectrum disorders, medical comorbidities, intelligent quotient, diet, concomitant medications, body mass index, and technical method of assessment of amino acids.

Increased Glutamate and Homocysteine and Decreased Glutamine Levels in Autism: A Review and Strategies for Future Studies of Amino Acids in Autism

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Ghanizadeh, Ahmad

2013-01-01

There are many reports about the significant roles of some amino acids in neurobiology and treatment of autism. This is a critical review of amino acids levels in autism. No published review article about the level of amino acids in autism was found. The levels of glutamate and homocystein are increased in autism while the levels of glutamine and tryptophan are decreased. Findings regarding the plasma levels of taurine and lysine are controversial. The urinary levels of homocysteine and essential amino acids in both the untreated and treated autistic children are significantly less than those in the controls. The current literature suffers from many methodological shortcomings which needed to be considered in future studies. Some of them are age, gender, developmental level, autism symptoms severity, type of autism spectrum disorders, medical comorbidities, intelligent quotient, diet, concomitant medications, body mass index, and technical method of assessment of amino acids. PMID:24167375

Biological Motion induced mu suppression is reduced in Early Psychosis (EP) patients with active negative symptoms and Autism Spectrum Disorders (ASD).

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Minichino, Amedeo; Singh, Fiza; Pineda, Jaime; Friederich, Elisabeth; Cadenhead, Kristin S

2016-04-30

There is evidence of genetic and neural system overlap in Autism Spectrum Disorder (ASD) and Early Psychosis (EP). Five datasets were pooled to compare mu suppression index (MSI), a proxy of mirror neuron activity, in EP, high functioning ASD, and healthy subjects (HS). ASDs and EPs with "active" negative symptoms showed significant differences in mu suppression, in response to Biological Motion/point-light display animation, compared to HS. Preliminary findings suggest that similar neural network deficits in ASD and EP could be driven by the expression of negative symptoms in the latter group of patients. These findings may aid future studies on EP and ASD and facilitate the formulation of new hypotheses regarding their pathophysiology. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

A review of gene-environment correlations and their implications for autism: a conceptual model.

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Meek, Shantel E; Lemery-Chalfant, Kathryn; Jahromi, Laudan B; Valiente, Carlos

2013-07-01

A conceptual model is proposed that explains how gene-environment correlations and the multiplier effect function in the context of social development in individuals with autism. The review discusses the current state of autism genetic research, including its challenges, such as the genetic and phenotypic heterogeneity of the disorder, and its limitations, such as the lack of interdisciplinary work between geneticists and social scientists. We discuss literature on gene-environment correlations in the context of social development and draw implications for individuals with autism. The review expands upon genes, behaviors, types of environmental exposure, and exogenous variables relevant to social development in individuals on the autism spectrum, and explains these factors in the context of the conceptual model to provide a more in-depth understanding of how the effects of certain genetic variants can be multiplied by the environment to cause largely phenotypic individual differences. Using the knowledge gathered from gene-environment correlations and the multiplier effect, we outline novel intervention directions and implications. PsycINFO Database Record (c) 2013 APA, all rights reserved.

Autism spectrum disorder in the scope of tactile processing

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Mark Mikkelsen

2018-01-01

Full Text Available Sensory processing abnormalities are among the most common behavioral phenotypes seen in autism spectrum disorder (ASD, typically characterized by either over- or under-responsiveness to stimulation. In this review, we focus on tactile processing dysfunction in ASD. We firstly review clinical studies wherein sensitivity to tactile stimuli has traditionally been assessed by self-, parent- and experimenter-reports. We also discuss recent investigations using psychophysical paradigms that gauge individual tactile thresholds. These more experimentally rigorous studies allow for more objective assessments of tactile abnormalities in ASD. However, little is understood about the neurobiological mechanisms underlying these abnormalities, or the link between tactile abnormalities and ASD symptoms. Neurobiological research that has been conducted has pointed toward dysfunction in the excitation/inhibition balance of the central nervous system of those with ASD. This review covers recent efforts that have investigated tactile dysfunction in ASD from clinical and behavioral perspectives, and some of the efforts to link these to neurobiology. On the whole, findings are inconsistent, which can be ascribed to the subjectivity of clinical assessments, the heterogeneity of ASD cohorts, and the diversity of tactile sensitivity measures. Future endeavors into understanding tactile processing differences in ASD will greatly benefit from controlled experiments driven by neurobiological hypotheses. Keywords: Autism spectrum disorder, Psychophysics, Review, Touch, Somatosensory, Tactile processing

An aberrant precision account of autism.

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Rebecca P Lawson

2014-05-01

Full Text Available Autism is a neurodevelopmental disorder characterised by problems with social-communication, restricted interests and repetitive behaviour. A recent and controversial article presented a compelling normative explanation for the perceptual symptoms of autism in terms of a failure of Bayesian inference (Pellicano and Burr, 2012. In response, we suggested that when Bayesian interference is grounded in its neural instantiation – namely, predictive coding – many features of autistic perception can be attributed to aberrant precision (or beliefs about precision within the context of hierarchical message passing in the brain (Friston et al., 2013. Here, we unpack the aberrant precision account of autism. Specifically, we consider how empirical findings – that speak directly or indirectly to neurobiological mechanisms – are consistent with the aberrant encoding of precision in autism; in particular, an imbalance of the precision ascribed to sensory evidence relative to prior beliefs.

Identifying autism from neural representations of social interactions: neurocognitive markers of autism.

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Just, Marcel Adam; Cherkassky, Vladimir L; Buchweitz, Augusto; Keller, Timothy A; Mitchell, Tom M

2014-01-01

Autism is a psychiatric/neurological condition in which alterations in social interaction (among other symptoms) are diagnosed by behavioral psychiatric methods. The main goal of this study was to determine how the neural representations and meanings of social concepts (such as to insult) are altered in autism. A second goal was to determine whether these alterations can serve as neurocognitive markers of autism. The approach is based on previous advances in fMRI analysis methods that permit (a) the identification of a concept, such as the thought of a physical object, from its fMRI pattern, and (b) the ability to assess the semantic content of a concept from its fMRI pattern. These factor analysis and machine learning methods were applied to the fMRI activation patterns of 17 adults with high-functioning autism and matched controls, scanned while thinking about 16 social interactions. One prominent neural representation factor that emerged (manifested mainly in posterior midline regions) was related to self-representation, but this factor was present only for the control participants, and was near-absent in the autism group. Moreover, machine learning algorithms classified individuals as autistic or control with 97% accuracy from their fMRI neurocognitive markers. The findings suggest that psychiatric alterations of thought can begin to be biologically understood by assessing the form and content of the altered thought's underlying brain activation patterns.

Assessment of Anxiety in Children and Adolescents with Autism Spectrum Disorders

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Grondhuis, Sabrina N.; Aman, Michael G.

2012-01-01

Anxiety disorders are among the most common comorbid conditions in children and adolescents with autism spectrum disorders (ASDs), although assessment presents unique challenges. Many symptoms of anxiety appear to overlap with common presentations of autism. Furthermore, deficits in language and cognitive functioning make it difficult for such…

DBS in the baso-lateral amygdala improves symptoms of autism and related self-injurious behaviourA case report and hypothesis on the pathogenesis of the disorder

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Volker eSturm

2013-01-01

Full Text Available We treated a thirteen year old boy for life-threatening self-injurious behavior (SIB and severe Kanner’s autism with Deep Brain Stimulation (DBS in the amygdaloid complex as well as in the supra-amygdaloid projection system. Two DBS-electrodes were placed in both structures of each hemisphere. The stimulation contacts targeted the paralaminar, the basolateral, the central amygdala as well as the supra-amygdaloid projection system. DBS was applied to each of these structures, but only stimulation of the baso-lateral part proved effective in improving SIB and core symptoms of the autism spectrum in the emotional, social and even cognitive domains over a follow up of now 24 months. These results, which have been gained for the first time in a patient, support hypotheses, according to which the amygdala may be pivotal in the pathogeneses of autism and point to the special relevance of the baso-lateral part.

Effects of Improvisational Music Therapy vs Enhanced Standard Care on Symptom Severity Among Children With Autism Spectrum Disorder: The TIME-A Randomized Clinical Trial.

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Bieleninik, Lucja; Geretsegger, Monika; Mössler, Karin; Assmus, Jörg; Thompson, Grace; Gattino, Gustavo; Elefant, Cochavit; Gottfried, Tali; Igliozzi, Roberta; Muratori, Filippo; Suvini, Ferdinando; Kim, Jinah; Crawford, Mike J; Odell-Miller, Helen; Oldfield, Amelia; Casey, Órla; Finnemann, Johanna; Carpente, John; Park, A-La; Grossi, Enzo; Gold, Christian

2017-08-08

Music therapy may facilitate skills in areas affected by autism spectrum disorder (ASD), such as social interaction and communication. To evaluate effects of improvisational music therapy on generalized social communication skills of children with ASD. Assessor-blinded, randomized clinical trial, conducted in 9 countries and enrolling children aged 4 to 7 years with ASD. Children were recruited from November 2011 to November 2015, with follow-up between January 2012 and November 2016. Enhanced standard care (n = 182) vs enhanced standard care plus improvisational music therapy (n = 182), allocated in a 1:1 ratio. Enhanced standard care consisted of usual care as locally available plus parent counseling to discuss parents' concerns and provide information about ASD. In improvisational music therapy, trained music therapists sang or played music with each child, attuned and adapted to the child's focus of attention, to help children develop affect sharing and joint attention. The primary outcome was symptom severity over 5 months, based on the Autism Diagnostic Observation Schedule (ADOS), social affect domain (range, 0-27; higher scores indicate greater severity; minimal clinically important difference, 1). Prespecified secondary outcomes included parent-rated social responsiveness. All outcomes were also assessed at 2 and 12 months. Among 364 participants randomized (mean age, 5.4 years; 83% boys), 314 (86%) completed the primary end point and 290 (80%) completed the last end point. Over 5 months, participants assigned to music therapy received a median of 19 music therapy, 3 parent counseling, and 36 other therapy sessions, compared with 3 parent counseling and 45 other therapy sessions for those assigned to enhanced standard care. From baseline to 5 months, mean ADOS social affect scores estimated by linear mixed-effects models decreased from 14.08 to 13.23 in the music therapy group and from 13.49 to 12.58 in the standard care group (mean difference, 0

Dietary Supplement for Core Symptoms of Autism Spectrum Disorder: Where Are We Now and Where Should We Go?

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Yong-Jiang Li

2017-08-01

Full Text Available Autism spectrum disorders (ASDs are a class of severe and chronic conditions and core symptoms are deficits in social interaction, language communication impairments, and repetitive/stereotyped behavior. Given the limitations of available treatments and substantially increased prevalence of the disease, additional interventions are needed. Since the use of dietary supplements for ASD is of high prevalence, up-to-date information about those supplements are required for both parents and clinicians. Relevant articles were identified through a systematic search of PubMed, EMBASE, Cochrane library, and PsychINFO databases (through May 2017. Current best evidences of 22 randomized controlled trials on 8 different dietary supplements for core symptoms of ASD were reviewed. For each supplement, this report focuses on the definition and potential therapeutic mechanisms, the latest advances, and discussion of study limitations and future directions. Most studies were small and short term, and there is little evidence to support effectiveness of dietary supplements for children with ASD.

The motivation for very early intervention for infants at high risk for autism spectrum disorders.

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Webb, Sara Jane; Jones, Emily J H; Kelly, Jean; Dawson, Geraldine

2014-02-01

The first Autism Research Matrix (IACC, 2003) listed the identification of behavioural and biological markers of risk for autism as a top priority. This emphasis was based on the hypothesis that intervention with infants at-risk, at an early age when the brain is developing and before core autism symptoms have emerged, could significantly alter the developmental trajectory of children at risk for the disorder and impact long-range outcome. Research has provided support for specific models of early autism intervention (e.g., Early Start Denver Model) for improving outcomes in young children with autism, based on both behavioural and brain activity measures. Although great strides have been made in ability to identify risk markers for autism in younger infant/toddler samples, how and when to intervene during the prodromal state remains a critical question. Emerging evidence suggests that abnormal brain circuitry in autism precedes altered social behaviours; thus, an intervention designed to promote early social engagement and reciprocity potentially could steer brain development back toward the normal trajectory and remit or reduce the expression of symptoms.

Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects.

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Khemir, Sameh; Halayem, Soumeyya; Azzouz, Hatem; Siala, Hajer; Ferchichi, Maherzia; Guedria, Asma; Bedoui, Amel; Abdelhak, Sonia; Messaoud, Taieb; Tebib, Neji; Belhaj, Ahlem; Kaabachi, Naziha

2016-06-01

Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 15 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms' evolution. © The Author(s) 2016.

Identification of neuromotor deficits common to autism spectrum disorder and attention deficit/hyperactivity disorder, and imitation deficits specific to autism spectrum disorder.

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Biscaldi, Monica; Rauh, Reinhold; Müller, Cora; Irion, Lisa; Saville, Christopher W N; Schulz, Eberhard; Klein, Christoph

2015-12-01

Deficits in motor and imitation abilities are a core finding in autism spectrum disorders (ASD), but impaired motor functions are also found in attention deficit/hyperactivity disorder (ADHD). Given recent theorising about potential aetiological overlap between the two disorders, the present study aimed to assess difficulties in motor performance and imitation of facial movements and meaningless gestures in a sample of 24 ADHD patients, 22 patients with ASD, and 20 typically developing children, matched for age (6-13 years) and similar in IQ (>80). Furthermore, we explored the impact of comorbid ADHD symptoms on motor and imitation performance in the ASD sample and the interrelationships between the two groups of variables in the clinical groups separately. The results show motor dysfunction was common to both disorders, but imitation deficits were specific to ASD. Together with the pattern of interrelated motor and imitation abilities, which we found exclusively in the ASD group, our findings suggest complex phenotypic, and possibly aetiological, relationships between the two neurodevelopmental conditions.

Restricted Interests and Anxiety in Children with Autism

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Spiker, Michael A.; Lin, C. Enjey; Van Dyke, Marilyn; Wood, Jeffrey J.

2012-01-01

A preoccupation with restricted interests (RI) is a core symptom of autism spectrum disorders (ASD). Engagement in RI is commonly observed in this population and impacts social, adaptive, and emotional functioning. The presence of anxiety disorders and overlap in symptom expression with RI, such as obsessive compulsive disorder (OCD), in children…

Understanding emotions in others: mirror neuron dysfunction in children with autism spectrum disorders.

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