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

PubMed

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 �

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-Site Sample of Individuals with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Tillmann, J.; Ashwood, K.; Absoud, M.; Bölte, S.; Bonnet-Brilhault, F.; Buitelaar, J. K.; Calderoni, S.; Calvo, R.; Canal-Bedia, R.; Canitano, R.; De Bildt, A.; Gomot, M.; Hoekstra, P. J.; Kaale, A.; McConachie, H.; Murphy, D. G.; Narzisi, A.; Oosterling, I.; Pejovic-Milovancevic, M.; Persico, A. M.; Puig, O.; Roeyers, H.; Rommelse, N.; Sacco, R.; Scandurra, V.; Stanfield, A. C.; Zander, E.; Charman, T.

2018-01-01

Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and…

Brief Report: Telephone Administration of the Autism Diagnostic Interview-Revised--Reliability and Suitability for Use in Research

ERIC Educational Resources Information Center

Ward-King, Jessica; Cohen, Ira L.; Penning, Henderika; Holden, Jeanette J. A.

2010-01-01

The Autism Diagnostic Interview-Revised is one of the "gold standard" diagnostic tools for autism spectrum disorders. It is traditionally administered face-to-face. Cost and geographical concerns constrain the employment of the ADI-R for large-scale research projects. The telephone interview is a reasonable alternative, but has not yet been…

Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments

ERIC Educational Resources Information Center

Foley-Nicpon, Megan; Fosenburg, Staci L.; Wurster, Kristin G.; Assouline, Susan G.

2017-01-01

This study was a replication of Mazefsky et al.'s ("Journal of Autism and Developmental Disabilities" 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine…

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder.

PubMed

Tillmann, J; Ashwood, K; Absoud, M; Bölte, S; Bonnet-Brilhault, F; Buitelaar, J K; Calderoni, S; Calvo, R; Canal-Bedia, R; Canitano, R; De Bildt, A; Gomot, M; Hoekstra, P J; Kaale, A; McConachie, H; Murphy, D G; Narzisi, A; Oosterling, I; Pejovic-Milovancevic, M; Persico, A M; Puig, O; Roeyers, H; Rommelse, N; Sacco, R; Scandurra, V; Stanfield, A C; Zander, E; Charman, T

2018-02-21

Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology.

Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders

PubMed Central

Hu, Valerie W.; Steinberg, Mara E.

2009-01-01

Heterogeneity in phenotypic presentation of ASD has been cited as one explanation for the difficulty in pinpointing specific genes involved in autism. Recent studies have attempted to reduce the “noise” in genetic and other biological data by reducing the phenotypic heterogeneity of the sample population. The current study employs multiple clustering algorithms on 123 item scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument of nearly 2000 autistic individuals to identify subgroups of autistic probands with clinically relevant behavioral phenotypes in order to isolate more homogeneous groups of subjects for gene expression analyses. Our combined cluster analyses suggest optimal division of the autistic probands into 4 phenotypic clusters based on similarity of symptom severity across the 123 selected item scores. One cluster is characterized by severe language deficits, while another exhibits milder symptoms across the domains. A third group possesses a higher frequency of savant skills while the fourth group exhibited intermediate severity across all domains. Grouping autistic individuals by multivariate cluster analysis of ADI-R scores reveals meaningful phenotypes of subgroups within the autistic spectrum which we show, in a related (accompanying) study, to be associated with distinct gene expression profiles. PMID:19455643

Identifying High Ability Children with DSM-5 Autism Spectrum or Social Communication Disorder: Performance on Autism Diagnostic Instruments.

PubMed

Foley-Nicpon, Megan; L Fosenburg, Staci; G Wurster, Kristin; Assouline, Susan G

2017-02-01

This study was a replication of Mazefsky et al.'s (Journal of Autism and Developmental Disabilities 43:1236-1242, 2013) investigation among a sample of 45 high ability children and adolescents diagnosed with ASD under DSM-IV-TR. Items from the ADOS and ADI-R were mapped onto DSM-5 diagnostic criteria for ASD and SCD to determine whether participants would meet either diagnosis under DSM-5. If the ADOS were administered alone, 62% of individuals diagnosed with ASD would no longer meet criteria under DSM-5; however, when the ADI-R and ADOS scores were combined, 100% of individuals would continue to meet ASD diagnosis. The ADOS was determined to be an insufficient measure for SCD due to the small number of algorithm items measuring SCD diagnostic criteria, suggesting the development of SCD measures is required.

Measurement Equivalence of the Autism Symptom Phenotype in Children and Youth

ERIC Educational Resources Information Center

Duku, Eric; Szatmari, Peter; Vaillancourt, Tracy; Georgiades, Stelios; Thompson, Ann; Liu, Xiao-Qing; Paterson, Andrew D.; Bennett, Terry

2013-01-01

Background: The Autism Diagnostic Interview-Revised (ADI-R) is a gold standard assessment of Autism Spectrum Disorder (ASD) symptoms and behaviours. A key underlying assumption of studies using the ADI-R is that it measures the same phenotypic constructs across different populations (i.e. males/females, younger/older, verbal/nonverbal). The…

Obstetric and Parental Psychiatric Variables as Potential Predictors of Autism Severity

ERIC Educational Resources Information Center

Wallace, Anna E.; Anderson, George M.; Dubrow, Robert

2008-01-01

Associations between obstetric and parental psychiatric variables and subjects' Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) domain scores were examined using linear mixed effects models. Data for the 228 families studied were provided by the Autism Genetic Resource Exchange. Hypertension (P =…

[Polish version of the ADOS (autism diagnostic observation schedule-generic)].

PubMed

Chojnicka, Izabela; Płoski, Rafał

2012-01-01

The article presents the Polish version of the autism diagnostic observation schedule-generic (ADOS), which together with the autism diagnostic interview-revised (ADI-R) is cited as the "gold standard" for the diagnosis of autism. The ADOS is a standardised, semistructured observation protocol appropriate for children and adults of differing age and language levels. It is linked to ICD-10 and DSM-IV-TR criteria. The ADOS consists of four modules, ranging from module 1 for nonverbal individuals to module 4 for verbally fluent adults. The adequate inter-rater reliability for items has been established. The protocol has high discriminant validity and distinguishes children with pervasive developmental disorders from children, who are outside of the spectrum. Although it does not enable to distinguish individuals with pervasive developmental disorder, unspecified from individuals with childhood autism. The paper presents subsequent steps of the translation process of the original version into Polish, as well as a chosen adaptation strategy of the Polish version. The ADOS is a very useful tool both for clinical diagnosis and for the scientific purpose diagnosis. In this last case it is extremely important to use a standardised method. Until now, there was no standardised diagnostic tool for autism in Poland.

Reliability of the ADI-R for the Single Case-Part II: Clinical versus Statistical Significance

ERIC Educational Resources Information Center

Cicchetti, Domenic V.; Lord, Catherine; Koenig, Kathy; Klin, Ami; Volkmar, Fred R.

2014-01-01

In an earlier investigation, the authors assessed the reliability of the ADI-R when multiple clinicians evaluated a single case, here a female 3 year old toddler suspected of having an autism spectrum disorder (Cicchetti et al. in "J Autism Dev Disord" 38:764-770, 2008). Applying the clinical criteria of Cicchetti and Sparrow ("Am J…

Use of artificial intelligence to shorten the behavioral diagnosis of autism.

PubMed

Wall, Dennis P; Dally, Rebecca; Luyster, Rhiannon; Jung, Jae-Yoon; Deluca, Todd F

2012-01-01

The Autism Diagnostic Interview-Revised (ADI-R) is one of the most commonly used instruments for assisting in the behavioral diagnosis of autism. The exam consists of 93 questions that must be answered by a care provider within a focused session that often spans 2.5 hours. We used machine learning techniques to study the complete sets of answers to the ADI-R available at the Autism Genetic Research Exchange (AGRE) for 891 individuals diagnosed with autism and 75 individuals who did not meet the criteria for an autism diagnosis. Our analysis showed that 7 of the 93 items contained in the ADI-R were sufficient to classify autism with 99.9% statistical accuracy. We further tested the accuracy of this 7-question classifier against complete sets of answers from two independent sources, a collection of 1654 individuals with autism from the Simons Foundation and a collection of 322 individuals with autism from the Boston Autism Consortium. In both cases, our classifier performed with nearly 100% statistical accuracy, properly categorizing all but one of the individuals from these two resources who previously had been diagnosed with autism through the standard ADI-R. Our ability to measure specificity was limited by the small numbers of non-spectrum cases in the research data used, however, both real and simulated data demonstrated a range in specificity from 99% to 93.8%. With incidence rates rising, the capacity to diagnose autism quickly and effectively requires careful design of behavioral assessment methods. Ours is an initial attempt to retrospectively analyze large data repositories to derive an accurate, but significantly abbreviated approach that may be used for rapid detection and clinical prioritization of individuals likely to have an autism spectrum disorder. Such a tool could assist in streamlining the clinical diagnostic process overall, leading to faster screening and earlier treatment of individuals with autism.

Brief Report: Autism in Individuals with Down Syndrome

ERIC Educational Resources Information Center

Starr, Elizabeth M.; Berument, Sibel Kazak; Tomlins, Megan; Papanikolaou, Katerina; Rutter, Michael

2005-01-01

As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R) and the A-PL-ADOS, which are well-validated…

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

ERIC Educational Resources Information Center

Clifford, Sally; Dissanayake, Cheryl; Bui, Quang M.; Huggins, Richard; Taylor, Annette K.; Loesch, Danuta Z.

2007-01-01

The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with…

Three Diagnostic Systems for Autism: DSM-III, DSM-III-R, and ICD-10.

ERIC Educational Resources Information Center

Volkmar, Fred R.; And Others

1992-01-01

This paper compared clinicians' diagnosis and DSM-III (Diagnostic and Statistical Manual), DSM-III-R (Revised), and ICD-10 (International Classification of Diseases) diagnoses of 52 individuals with autism and 62 nonautistic, developmentally disordered individuals. The DSM-III-R system overdiagnosed the presence of autism, and ICD-10 closely…

Autism Spectrum Disorder in Children and Adolescents with Fragile X Syndrome: Within-Syndrome Differences and Age-Related Changes

ERIC Educational Resources Information Center

McDuffie, Andrea; Abbeduto, Leonard; Lewis, Pamela; Kover, Sara; Kim, Jee-Seon; Weber, Ann; Brown, W. Ted

2010-01-01

The Autism Diagnostic Interview-Revised (ADI-R) was used to examine diagnostic profiles and age-related changes in autism symptoms for a group of verbal children and adolescents who had fragile X syndrome, with and without autism. After controlling for nonverbal IQ, we found statistically significant between-group differences for lifetime and…

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

PubMed

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 < 0.001) in the PARIS cohort, and 72.2% of males and 68.3% of females (P < 0.0001) in the AGRE cohort. Among the items extracted by the stepwise DA, four belonged to the ADI-R algorithm used for the final diagnosis of ASD. In conclusion, several items of the ADI-R that are taken into account in the diagnosis of autism significantly differentiates between males and females. The potential 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.

Autism Profiles of Males With Fragile X Syndrome

ERIC Educational Resources Information Center

Harris, Susan W.; Hessl, David; Goodlin-Jones, Beth; Ferranti, Jessica; Bacalman, Susan; Barbato, Ingrid; Tassone, Flora; Hagerman, Paul J.; Herman, Kristin; Hagerman, Randi J.

2008-01-01

Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria…

[Specificity hypothesis of a theory of mind deficit in early childhood autism].

PubMed

Kissgen, R; Schleiffer, R

2002-02-01

In order to test the hypothesis that a theory of mind deficit is specific for autism, the present study presents the first replication of the Sally-Anne test (Baron-Cohen, Leslie & Frith, 1985) in the German-speaking countries. The Sally-Anne test was administered to 16 autistic, 24 probands with Down's syndrome and 20 normal preschool prosands. The intelligence of the autistic group and that with Down's syndrome was measured by the CPM/SPM. In addition, the ADI-R was used with the principal caregivers of the autistic and Down's syndrome subjects. With regard to the clinical diagnosis, theory of mind deficit turned out to be not specific for autism. Six of 16 (37.5%) autistic subjects passed the theory of mind tasks. Thus performance in the autistic group surpassed that of both control groups. Out of 16 autistic subjects, autism could be confirmed in only 8 on the basis of the ADI-R diagnostic criteria, only one of whom showed a theory of mind. The autistic individuals with a theory of mind differed significantly in their mean IQ from those without this ability. Spectrum and specificity of a theory of mind deficit in autism remain controversial. For further research it seems important to administer the ADI-R during the diagnostic process. The findings suggest that the clinical diagnosis of autism is not precise enough to distinguish between autism and nonautistic mental handicap.

Use of machine learning to improve autism screening and diagnostic instruments: effectiveness, efficiency, and multi-instrument fusion

PubMed Central

Bone, Daniel; Bishop, Somer; Black, Matthew P.; Goodwin, Matthew S.; Lord, Catherine; Narayanan, Shrikanth S.

2016-01-01

Background Machine learning (ML) provides novel opportunities for human behavior research and clinical translation, yet its application can have noted pitfalls (Bone et al., 2015). In this work, we fastidiously utilize ML to derive autism spectrum disorder (ASD) instrument algorithms in an attempt to improve upon widely-used ASD screening and diagnostic tools. Methods The data consisted of Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) scores for 1,264 verbal individuals with ASD and 462 verbal individuals with non-ASD developmental or psychiatric disorders (DD), split at age 10. Algorithms were created via a robust ML classifier, support vector machine (SVM), while targeting best-estimate clinical diagnosis of ASD vs. non-ASD. Parameter settings were tuned in multiple levels of cross-validation. Results The created algorithms were more effective (higher performing) than current algorithms, were tunable (sensitivity and specificity can be differentially weighted), and were more efficient (achieving near-peak performance with five or fewer codes). Results from ML-based fusion of ADI-R and SRS are reported. We present a screener algorithm for below (above) age 10 that reached 89.2% (86.7%) sensitivity and 59.0% (53.4%) specificity with only five behavioral codes. Conclusions ML is useful for creating robust, customizable instrument algorithms. In a unique dataset comprised of controls with other difficulties, our findings highlight limitations of current caregiver-report instruments and indicate possible avenues for improving ASD screening and diagnostic tools. PMID:27090613

Use of machine learning to improve autism screening and diagnostic instruments: effectiveness, efficiency, and multi-instrument fusion.

PubMed

Bone, Daniel; Bishop, Somer L; Black, Matthew P; Goodwin, Matthew S; Lord, Catherine; Narayanan, Shrikanth S

2016-08-01

Machine learning (ML) provides novel opportunities for human behavior research and clinical translation, yet its application can have noted pitfalls (Bone et al., 2015). In this work, we fastidiously utilize ML to derive autism spectrum disorder (ASD) instrument algorithms in an attempt to improve upon widely used ASD screening and diagnostic tools. The data consisted of Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) scores for 1,264 verbal individuals with ASD and 462 verbal individuals with non-ASD developmental or psychiatric disorders, split at age 10. Algorithms were created via a robust ML classifier, support vector machine, while targeting best-estimate clinical diagnosis of ASD versus non-ASD. Parameter settings were tuned in multiple levels of cross-validation. The created algorithms were more effective (higher performing) than the current algorithms, were tunable (sensitivity and specificity can be differentially weighted), and were more efficient (achieving near-peak performance with five or fewer codes). Results from ML-based fusion of ADI-R and SRS are reported. We present a screener algorithm for below (above) age 10 that reached 89.2% (86.7%) sensitivity and 59.0% (53.4%) specificity with only five behavioral codes. ML is useful for creating robust, customizable instrument algorithms. In a unique dataset comprised of controls with other difficulties, our findings highlight the limitations of current caregiver-report instruments and indicate possible avenues for improving ASD screening and diagnostic tools. © 2016 Association for Child and Adolescent Mental Health.

Identification of Genetic Loci Underlying the Phenotypic Constructs of Autism Spectrum Disorders

ERIC Educational Resources Information Center

Liu, Xiao-Qing; Georgiades, Stelios; Duku, Eric; Thompson, Ann; Devlin, Bernie; Cook, Edwin H.; Wijsman, Ellen M.; Paterson, Andrew D.; Szatmari, Peter

2011-01-01

Objective: To investigate the underlying phenotypic constructs in autism spectrum disorders (ASD) and to identify genetic loci that are linked to these empirically derived factors. Method: Exploratory factor analysis was applied to two datasets with 28 selected Autism Diagnostic Interview-Revised (ADI-R) algorithm items. The first dataset was from…

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

PubMed

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.

Diagnosing ASD in Adults without ID: Accuracy of the ADOS-2 and the ADI-R

ERIC Educational Resources Information Center

Fusar-Poli, Laura; Brondino, Natascia; Rocchetti, Matteo; Panisi, Cristina; Provenzani, Umberto; Damiani, Stefano; Politi, Pierluigi

2017-01-01

Diagnosing autism spectrum disorder (ASD) in adulthood often represents a challenge in clinical practice. The aim of the present study was to evaluate the sensitivity and specificity of the ADOS and ADI-R in diagnosing ASD in adults. 113 subjects with an IQ of 70 or above were assessed through an extensive clinical evaluation. The ADOS-2 Module 4…

A National Study of the Prevalence of Autism among Five-Year-Old Children in Iran

ERIC Educational Resources Information Center

Samadi, Sayyed Ali; Mahmoodizadeh, Ameneh; McConkey, Roy

2012-01-01

In Iran, more than 1.3 million five-year olds have been screened for autism over three academic years, with the Social Communication Questionnaire (SCQ). The Autism Diagnostic Interview-Revised (ADI-R) is used to confirm a diagnosis of typical autism. The resulting prevalence of 6.26 per 10,000 for typical autism is in line with rates for certain…

Can a Diagnosis of Asperger Syndrome Be Made in Very Young Children with Suspected Autism Spectrum Disorder?

ERIC Educational Resources Information Center

McConachie, Helen; Le Couteur, Ann; Honey, Emma

2005-01-01

Of a cohort of 104 children with Autism, PDD-NOS or specific language disorder, recruited at age 2-3 years of age, only three appeared to meet diagnostic assessment criteria for Asperger syndrome (AS). The children were followed up at 4-5 years, and assessments at both time points included the Autism Diagnostic Interview (ADI-R), the Autism…

Autism and heritable bone fragility: A true association?

PubMed

Balasubramanian, Meena; Jones, Rebecca; Milne, Elizabeth; Marshall, Charlotte; Arundel, Paul; Smith, Kath; Bishop, Nicholas J

2018-06-01

Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an 'Autism Spectrum Disorder'. A joint genetics and psychology research study was undertaken to identify these patients using 'Gold Standard' research tools: Autism Diagnostic Inventory Revised (ADI-R); Autism Diagnostic Observation Schedule (ADOS) and undertake genetic analyses in them. A cohort of n  = 7 children with autistic traits and severe/complex OI were recruited to the study. The study was set-up to explore whether there was a genetic link between bone fragility and autism in a sub-set of patients with bone fragility identified with autism traits in our complex/severe OI clinic. This was not set-up as a prevalence study but rather an exploration of genetics in association with ADI/ADOS confirmed ASD and bone fragility. Standardised tools were used to confirm autism diagnosis. ADI and ADOS were completed by the Clinical Psychologist; ADI comprises a 93 item semi-structured clinical review with a diagnostic algorithm diagnosing Autism; ADOS is a semi-structured assessment of socialisation, communication and play/imagination which also provides a diagnostic algorithm. In patients recruited, those that fulfilled research criteria for diagnosis of autism using above tools were recruited to trio whole exome sequencing (WES). one patient had compound heterozygous variants in NBAS ; one patient had a variant in NRX1 ; one patient had a maternally inherited PLS3 variant; all the other patients in this cohort had pathogenic variants in COL1A1/COL1A2 . Although, not set out as an objective, we were able to establish that identifying autism had important clinical and social benefits for patients and their families in ensuring access to services, appropriate schooling, increased understanding of behaviour and support. It is important for clinicians

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

PubMed Central

Colvert, Emma; Tick, Beata; McEwen, Fiona; Stewart, Catherine; Curran, Sarah R.; Woodhouse, Emma; Gillan, Nicola; Hallett, Victoria; Lietz, Stephanie; Garnett, Tracy; Ronald, Angelica; Plomin, Robert; Rijsdijk, Frühling; Happé, Francesca; Bolton, Patrick

2016-01-01

IMPORTANCE Most evidence to date highlights the importance of genetic influences on the liability to autism and related traits. However, most of these findings are derived from clinically ascertained samples, possibly missing individuals with subtler manifestations, and obtained estimates may not be representative of the population. OBJECTIVES To establish the relative contributions of genetic and environmental factors in liability to autism spectrum disorder (ASD) and a broader autism phenotype in a large population-based twin sample and to ascertain the genetic/environmental relationship between dimensional trait measures and categorical diagnostic constructs of ASD. DESIGN, SETTING, AND PARTICIPANTS We used data from the population-based cohort Twins Early Development Study, which included all twin pairs born in England and Wales from January 1, 1994, through December 31, 1996. We performed joint continuous-ordinal liability threshold model fitting using the full information maximum likelihood method to estimate genetic and environmental parameters of covariance. Twin pairs underwent the following assessments: the Childhood Autism Spectrum Test (CAST) (6423 pairs; mean age, 7.9 years), the Development and Well-being Assessment (DAWBA) (359 pairs; mean age, 10.3 years), the Autism Diagnostic Observation Schedule (ADOS) (203 pairs; mean age, 13.2 years), the Autism Diagnostic Interview–Revised (ADI-R) (205 pairs; mean age, 13.2 years), and a best-estimate diagnosis (207 pairs). MAIN OUTCOMES AND MEASURES Participants underwent screening using a population-based measure of autistic traits (CAST assessment), structured diagnostic assessments (DAWBA, ADI-R, and ADOS), and a best-estimate diagnosis. RESULTS On all ASD measures, correlations among monozygotic twins (range, 0.77-0.99) were significantly higher than those for dizygotic twins (range, 0.22-0.65), giving heritability estimates of 56% to 95%. The covariance of CAST and ASD diagnostic status (DAWBA, ADOS

Autism Spectrum Traits in Children with Anxiety Disorders

ERIC Educational Resources Information Center

van Steensel, Francisca J. A.; Bogels, Susan M.; Wood, Jeffrey J.

2013-01-01

The aim of this study was to examine ASD traits in children with clinical anxiety in early development, as well as current manifestations. Parents of 42 children with an anxiety disorder (but no known diagnosis of ASD) and 42 typically developing children were interviewed using the Autism Diagnostic Interview (ADI-R). They also completed…

How Useful Is the Social Communication Questionnaire in Toddlers at Risk of Autism Spectrum Disorder?

ERIC Educational Resources Information Center

Oosterling, Iris; Rommelse, Nanda; De Jonge, Maretha; Van Der Gaag, Rutger Jan; Swinkels, Sophie; Roos, Sascha; Visser, Janne; Buitelaar, Jan

2010-01-01

Background: The Social Communication Questionnaire (SCQ) is a screening instrument with established validity against the Autism Diagnostic Interview-Revised (ADI-R) in children aged 4 years and older. Indices of diagnostic accuracy have been shown to be strong in school-aged samples; however, relatively little is known about the performance of the…

Interests in high-functioning autism are more intense, interfering, and idiosyncratic, but not more circumscribed, than those in neurotypical development

PubMed Central

Anthony, Laura Gutermuth; Kenworthy, Lauren; Yerys, Benjamin E.; Jankowski, Kathryn F.; James, Joette D.; Harms, Madeline B.; Martin, Alex; Wallace, Gregory L.

2015-01-01

Though circumscribed interests are pathognomonic with autism, how these interests differ from those expressed during neutotypical (NT) development remains unknown. Using a novel measure, the Interests Scale (IS), this study compares interests between 76 NT individuals and 109 individuals with high-functioning autism spectrum disorder (HF-ASD) matched group-wise on age, IQ and gender ratio. Participants and their parents/caregivers completed diagnostic measures (Autism Diagnostic Interview-Revised [ADI-R], Autism Diagnostic Observation Schedule [ADOS]; HF-ASD only), cognitive tests (Wechsler IQ Scales), and questionnaires (the Repetitive Behavior Scale-Revised [RBS-R], the Behavior Rating Inventory of Executive Function [BRIEF], and the Social Responsiveness Scale [SRS]), in addition to the IS. HF-ASD and NT individuals did not differ in number of interest areas, but the types of interests differed considerably. HF-ASD individuals had significantly more intense and interfering interests than NT individuals. Using only the intensity score, 77.5% of individuals were correctly classified (NT or HF-ASD) in a discriminant function analysis. Among individuals with HF-ASD, IS scores were significantly related to ADOS, BRIEF, RBS-R and SRS scores, but not to ADI-R scores, IQ, gender, age or psychotropic medication use. The type and intensity, but not the number, of interests distinguish high-functioning children with ASD from NT children. PMID:23880382

Investigating the Structure of the Restricted, Repetitive Behaviours and Interests Domain of Autism

ERIC Educational Resources Information Center

Szatmari, Peter; Georgiades, Stelios; Bryson, Susan; Zwaigenbaum, Lonnie; Roberts, Wendy; Mahoney, William; Goldberg, Jeremy; Tuff, Lawrence

2006-01-01

Background: The Restricted, Repetitive Behaviours and Interests (RRBIs) are represented in the DSM-IV and measured by the Autism Diagnostic Interview-Revised (ADI-R) as one of the three homogeneous symptom categories of Pervasive Developmental Disorders. Although this conceptualisation is well accepted in the field, the grouping of symptoms is…

Protocadherin α (PCDHA) as a novel susceptibility gene for autism

PubMed Central

Anitha, Ayyappan; Thanseem, Ismail; Nakamura, Kazuhiko; Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Iwata, Yasuhide; Suzuki, Katsuaki; Sugiyama, Toshiro; Tsujii, Masatsugu; Yoshikawa, Takeo; Mori, Norio

2013-01-01

Background Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin α gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex families, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview–Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations Our results should be replicated in an independent population and/or in samples of different racial backgrounds. Conclusion Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism. PMID:23031252

Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.

PubMed

Yirmiya, N; Rosenberg, C; Levi, S; Salomon, S; Shulman, C; Nemanov, L; Dina, C; Ebstein, R P

2006-05-01

We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS=11.46, global P-value=0.009, df=3). Haplotype analysis of three microsatellites also showed significant association (LRS=144.94, df=103, global P=0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P=0.009), with the ADI-R (P=0.009) and the ADOS-G (P=0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.Molecular Psychiatry (2006) 11, 488-494. doi:10.1038/sj.mp.4001812; published online 7 March 2006.

Administration of secretin for autism alters dopamine metabolism in the central nervous system.

PubMed

Toda, Yoshihiro; Mori, Kenji; Hashimoto, Toshiaki; Miyazaki, Masahito; Nozaki, Satoshi; Watanabe, Yasuyoshi; Kuroda, Yasuhiro; Kagami, Shoji

2006-03-01

We evaluated the clinical effects of intravenously administered secretin in 12 children with autism (age range: 4-6 years, median age: 9 years, boy:girl=8:4). In addition, we investigated the association between improvement in symptoms and changes in the cerebrospinal fluid (CSF) homovanillic acid (HVA),5-hydroxyindole-3-acetic acid (5-HIAA), and 6R-5,6,7,8-tetrahydro-L-biopterin (BH(4)) levels after administration. After administration of secretin, the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children. However, the score deteriorated in 2 of the 12 children (in the item of 'restricted and repetitive, stereotyped interests and behaviors'). The HVA and BH(4) levels in CSF were increased in all children with improvement in the ADI-R score. In contrast, no patient without the elevation of the BH(4) level showed improvement in the score. These findings suggest that secretin activated metabolic turnover of dopamine in the central nervous system via BH(4), improving symptoms.

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

ERIC Educational Resources Information Center

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…

The Swedish Version of the Ritvo Autism and Asperger Diagnostic Scale: Revised (RAADS-R). A Validation Study of a Rating Scale for Adults

ERIC Educational Resources Information Center

Andersen, Lisa M. J.; Naswall, Katharina; Manouilenko, Irina; Nylander, Lena; Edgar, Johan; Ritvo, Riva Ariella; Ritvo, Edward; Bejerot, Susanne

2011-01-01

There is a paucity of diagnostic instruments for adults with autism spectrum disorder (ASD). This study evaluates the psychometric properties of the Swedish version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), an 80-item self-rating scale designed to assist clinicians diagnosing ASD in adults. It was administered to 75…

Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders

PubMed Central

Bishop, Somer L.; Hus, Vanessa; Duncan, Amie; Huerta, Marisela; Gotham, Katherine; Pickles, Andrew; Kreiger, Abba; Buja, Andreas; Lund, Sabata; Lord, Catherine

2012-01-01

Research suggests that restricted and repetitive behaviors (RRBs) can be subdivided into repetitive sensory motor (RSM) and insistence on Sameness (IS) behaviors. However, because the majority of previous studies have used the Autism Diagnostic Interview-Revised (ADI-R), it is not clear whether these subcategories reflect the actual organization of RRBs in ASD. Using data from the Simons Simplex Collection (n=1825), we examined the association between scores on the ADI-R and the Repetitive Behavior Scale-Revised (RBS-R). Analyses supported the construct validity of RSM and IS subcategories. As in previous studies, IS behaviors showed no relationship with IQ. These findings support the continued use of RRB subcategories, particularly IS behaviors, as a means of creating more behaviorally homogeneous subgroups of children with ASD. PMID:23065116

Social outcomes in mid- to later adulthood among individuals diagnosed with autism and average nonverbal IQ as children.

PubMed

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

2013-06-01

To describe current social functioning in a clinical sample of 60 adults with autism (mean age = 44 years) who were all of average nonverbal IQ (70+) when first diagnosed (mean age = 6.75 years). Outcome measures included standardized diagnostic and cognitive assessments and questionnaires on social functioning. Child and adult variables related to current outcomes were explored. All individuals continued to meet criteria for autism spectrum disorder (ASD) on the Autism Diagnostic Interview-Revised (ADI-R), but severity of autism symptoms declined over time. Nevertheless, only 10 individuals (17%) were rated as having a "good" or "very good" outcome; the majority (60%) were assessed as having "poor" or "very poor" outcomes. The strongest predictor of adult outcome was the Reciprocal Social Interaction domain score on the ADI at diagnostic confirmation. Change over time was further examined in a subgroup (n = 44) previously assessed 20 years ago earlier (mean age = 26 years). Although severity of autism had continued to decrease during the adult period, social outcomes were poorer than in younger adulthood. In this cohort of adults first diagnosed with autism, on average, 37 years previously, social inclusion remains very limited, despite general improvements in autism symptomatology with age. Whether these findings will be replicated in future generations of children with autism, who now have the benefits of earlier diagnosis and wider access to specialist provision, needs to be the focus of further longitudinal research. Copyright © 2013 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

The Swedish version of the Ritvo autism and asperger diagnostic scale: revised (RAADS-R). A validation study of a rating scale for adults.

PubMed

Andersen, Lisa M J; Näswall, Katharina; Manouilenko, Irina; Nylander, Lena; Edgar, Johan; Ritvo, Riva Ariella; Ritvo, Edward; Bejerot, Susanne

2011-12-01

There is a paucity of diagnostic instruments for adults with autism spectrum disorder (ASD). This study evaluates the psychometric properties of the Swedish version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), an 80-item self-rating scale designed to assist clinicians diagnosing ASD in adults. It was administered to 75 adults with ASD and 197 comparison cases. Also, a subset completed the Autism Spectrum Quotient (AQ). Three out of four subscales had high internal consistency. Sensitivity was 91% and specificity was 93%. The ASD subjects had significantly higher mean scores on all subscales. ASD females had higher scores than ASD males on the sensory motor subscale, a dimension not included in the AQ. RAADS-R showed promising test re-test reliability.

Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels.

PubMed

Carvalho Pereira, Andreia; Violante, Inês R; Mouga, Susana; Oliveira, Guiomar; Castelo-Branco, Miguel

2018-05-01

The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R.

How to Use the ADI-R for Classifying Autism Spectrum Disorders? Psychometric Properties of Criteria from the Literature in 1,204 Dutch Children

ERIC Educational Resources Information Center

de Bildt, Annelies; Oosterling, Iris J.; van Lang, Natasja D. J.; Kuijper, Sanne; Dekker, Vera; Sytema, Sjoerd; Oerlemans, Anoek M.; van Steijn, Daphne J.; Visser, Janne C.; Rommelse, Nanda N.; Minderaa, Ruud B.; van Engeland, Herman; van der Gaag, Rutger-Jan; Buitelaar, Jan K.; de Jonge, Maretha V.

2013-01-01

The algorithm of the Autism Diagnostic Interview-Revised provides criteria for autism versus non-autism according to DSM-IV. Criteria for the broader autism spectrum disorders are needed. This study investigated the validity of seven sets of criteria from the literature, in 1,204 Dutch children (aged 3-18 years) with and without mental…

RNA interference of argininosuccinate synthetase restores sensitivity to recombinant arginine deiminase (rADI) in resistant cancer cells

PubMed Central

2011-01-01

Background Sensitivity of cancer cells to recombinant arginine deiminase (rADI) depends on expression of argininosuccinate synthetase (AS), a rate-limiting enzyme in synthesis of arginine from citrulline. To understand the efficiency of RNA interfering of AS in sensitizing the resistant cancer cells to rADI, the down regulation of AS transiently and permanently were performed in vitro, respectively. Methods We studied the use of down-regulation of this enzyme by RNA interference in three human cancer cell lines (A375, HeLa, and MCF-7) as a way to restore sensitivity to rADI in resistant cells. The expression of AS at levels of mRNA and protein was determined to understand the effect of RNA interference. Cell viability, cell cycle, and possible mechanism of the restore sensitivity of AS RNA interference in rADI treated cancer cells were evaluated. Results AS DNA was present in all cancer cell lines studied, however, the expression of this enzyme at the mRNA and protein level was different. In two rADI-resistant cell lines, one with endogenous AS expression (MCF-7 cells) and one with induced AS expression (HeLa cells), AS small interference RNA (siRNA) inhibited 37-46% of the expression of AS in MCF-7 cells. ASsiRNA did not affect cell viability in MCF-7 which may be due to the certain amount of residual AS protein. In contrast, ASsiRNA down-regulated almost all AS expression in HeLa cells and caused cell death after rADI treatment. Permanently down-regulated AS expression by short hairpin RNA (shRNA) made MCF-7 cells become sensitive to rADI via the inhibition of 4E-BP1-regulated mTOR signaling pathway. Conclusions Our results demonstrate that rADI-resistance can be altered via AS RNA interference. Although transient enzyme down-regulation (siRNA) did not affect cell viability in MCF-7 cells, permanent down-regulation (shRNA) overcame the problem of rADI-resistance due to the more efficiency in AS silencing. PMID:21453546

Birth order effects on nonverbal IQ scores in autism multiplex families.

PubMed

Spiker, D; Lotspeich, L J; Dimiceli, S; Szatmari, P; Myers, R M; Risch, N

2001-10-01

Lord (1992) published a brief report showing a trend for decreasing nonverbal IQ scores with increasing birth order in a sample of 16 autism multiplex families, and urged replication in a larger sample. In this report, analyses of nonverbal IQ scores for a sample of 144 autism multiplex families indicated that nonverbal IQ scores were significantly lower in secondborn compared with firstborn siblings with autism. This birth order effect was independent of gender as well as the age differences within sib pairs. No such birth order effects were found for social or communicative deficits as measured by the Autism Diagnostic Interview-Revised (ADI-R), but there was a modest tendency for increased scores for ritualistic behaviors for the firstborn sibs. Further, there were no gender differences on nonverbal IQ scores in this sample. Results are discussed in terms of implications for genetic studies of autism.

Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

ERIC Educational Resources Information Center

Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

2013-01-01

An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

Investigating the structure of the restricted, repetitive behaviours and interests domain of autism.

PubMed

Szatmari, Peter; Georgiades, Stelios; Bryson, Susan; Zwaigenbaum, Lonnie; Roberts, Wendy; Mahoney, William; Goldberg, Jeremy; Tuff, Lawrence

2006-06-01

The Restricted, Repetitive Behaviours and Interests (RRBIs) are represented in the DSM-IV and measured by the Autism Diagnostic Interview-Revised (ADI-R) as one of the three homogeneous symptom categories of Pervasive Developmental Disorders. Although this conceptualisation is well accepted in the field, the grouping of symptoms is based primarily on clinical judgment rather than on empirical evidence. The objective of this study was to examine the factor structure of the RRBI domain of autism. Eleven items from this domain of the ADI-R were used in a Principal Components Analysis (PCA). Our sample consisted of 339 individuals with a Best Estimate diagnosis of Pervasive Developmental Disorder (PDD). Findings indicate that the RRBI domain is composed of two distinct factors or dimensions: Insistence on Sameness (IS) and Repetitive Sensory and Motor Behaviours (RSMB). RSMB is negatively correlated with adaptive skills; that is, lower functioning individuals tend to have higher levels of repetitive sensory and motor behaviours. On the other hand, IS is positively correlated with autistic symptoms in the communication and language domain. Further analyses suggest moderate familial aggregation among affected sibling pairs within the IS but not the RSMB factor. These results provide evidence for the heterogeneity of the RRBI domain of the ADI-R in terms of both clinical presentation and other correlates. In addition, the IS factor seems to be under familial (presumably genetic) control, while RSMB appears to simply reflect variation in developmental level.

Temperament and its Association with Autism Symptoms in a High-risk Population.

PubMed

Garon, Nancy; Zwaigenbaum, Lonnie; Bryson, Susan; Smith, Isabel M; Brian, Jessica; Roncadin, Caroline; Vaillancourt, Tracy; Armstrong, Vickie; Sacrey, Lori-Ann R; Roberts, Wendy

2016-05-01

Temperament was investigated in a group of high-risk infants (N = 383; 45 % girls) who had an older sibling with autism spectrum disorder (ASD), and in community control infants (N = 162; 46 % girls) with no family history of ASD (low-risk). The infants were assessed at age 12 months using the Infant Behavior Questionnaire, and at 24 months using the Toddler Behavior Assessment Questionnaire. At 36 months, an independent blind diagnostic assessment for ASD was conducted using the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The results indicate not only differences in temperament traits between the high- and low-risk groups, but also differences in the structure of higher-order temperament factors. The results support the importance of early reactive temperament in the development of Effortful Control in the high-risk sample. Furthermore, Effortful Control at 24 months appears to play a critical role in predicting later ASD symptoms (at 36 months). Taken together, these findings support the use of early temperament as an endophenotype for ASD.

Inhibin B and anti-Müllerian hormone/Müllerian-inhibiting substance may contribute to the male bias in autism.

PubMed

Pankhurst, M W; McLennan, I S

2012-08-14

The autistic spectrum disorders have a significant male bias in incidence, which is unexplained. The Sertoli cells of the immature testes secrete supra-adult levels of Müllerian-inhibiting substance/anti-Müllerian hormone (AMH) and inhibin B (InhB), with both hormones being putative regulators of brain development. We report here, that 82 boys with an autism spectrum disorder have normal levels of InhB and AMH. However, the boys' level of InhB correlated with their autism diagnostic interview-revised (ADI-R) scores for the social interaction (R=0.29, P=0.009, N=82) and communication domains (R=0.29, P=0.022, N=63), and with the number of autistic traits the boys exhibited (R=0.34 and 0.27, respectively). The strengths of the abovementioned correlates were stronger in the boys with milder autism (R=0.42 and 0.50, respectively), with AMH exhibiting a significant negative correlation to the ADI-R score in these boys (R=-0.44 and R=-0.39, respectively). Neither hormone correlated to the incidence of stereotyped and repetitive behaviours. This suggests that the male bias in the autistic spectrum has multiple determinants, which modulate the effects of an otherwise non-dimorphic pathology. Furthermore, AMH and InhB have opposing effects on the SMAD1/5/8 pathway, and opposing correlates to autistic traits, implicating the SMAD pathways as a putative point of molecular convergence for the autistic spectrum.

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

PubMed

Lainhart, Janet E; Bigler, Erin D; Bocian, Maureen; Coon, Hilary; Dinh, Elena; Dawson, Geraldine; Deutsch, Curtis K; Dunn, Michelle; Estes, Annette; Tager-Flusberg, Helen; Folstein, Susan; Hepburn, Susan; Hyman, Susan; McMahon, William; Minshew, Nancy; Munson, Jeff; Osann, Kathy; Ozonoff, Sally; Rodier, Patricia; Rogers, Sally; Sigman, Marian; Spence, M Anne; Stodgell, Christopher J; Volkmar, Fred

2006-11-01

Data from 10 sites of the NICHD/NIDCD Collaborative Programs of Excellence in Autism were combined to study the distribution of head circumference and relationship to demographic and clinical variables. Three hundred thirty-eight probands with autism-spectrum disorder (ASD) including 208 probands with autism were studied along with 147 parents, 149 siblings, and typically developing controls. ASDs were diagnosed, and head circumference and clinical variables measured in a standardized manner across all sites. All subjects with autism met ADI-R, ADOS-G, DSM-IV, and ICD-10 criteria. The results show the distribution of standardized head circumference in autism is normal in shape, and the mean, variance, and rate of macrocephaly but not microcephaly are increased. Head circumference tends to be large relative to height in autism. No site, gender, age, SES, verbal, or non-verbal IQ effects were present in the autism sample. In addition to autism itself, standardized height and average parental head circumference were the most important factors predicting head circumference in individuals with autism. Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents. Increased head circumference was associated with a higher (more severe) ADI-R social algorithm score. Macrocephaly is associated with delayed onset of language. Although mean head circumference and rates of macrocephaly are increased in autism, a high degree of variability is present, underscoring the complex clinical heterogeneity of the disorder. The wide distribution of head circumference in autism has major implications for genetic, neuroimaging, and other neurobiological research.

Head Circumference and Height in Autism

PubMed Central

Lainhart, Janet E.; Bigler, Erin D.; Bocian, Maureen; Coon, Hilary; Dinh, Elena; Dawson, Geraldine; Deutsch, Curtis K.; Dunn, Michelle; Estes, Annette; Tager-Flusberg, Helen; Folstein, Susan; Hepburn, Susan; Hyman, Susan; McMahon, William; Minshew, Nancy; Munson, Jeff; Osann, Kathy; Ozonoff, Sally; Rodier, Patricia; Rogers, Sally; Sigman, Marian; Spence, M. Anne; Stodgell, Christopher J.; Volkmar, Fred

2016-01-01

Data from 10 sites of the NICHD/NIDCD Collaborative Programs of Excellence in Autism were combined to study the distribution of head circumference and relationship to demographic and clinical variables. Three hundred thirty-eight probands with autism-spectrum disorder (ASD) including 208 probands with autism were studied along with 147 parents, 149 siblings, and typically developing controls. ASDs were diagnosed, and head circumference and clinical variables measured in a standardized manner across all sites. All subjects with autism met ADI-R, ADOS-G, DSM-IV, and ICD-10 criteria. The results show the distribution of standardized head circumference in autism is normal in shape, and the mean, variance, and rate of macrocephaly but not microcephaly are increased. Head circumference tends to be large relative to height in autism. No site, gender, age, SES, verbal, or non-verbal IQ effects were present in the autism sample. In addition to autism itself, standardized height and average parental head circumference were the most important factors predicting head circumference in individuals with autism. Mean standardized head circumference and rates of macrocephaly were similar in probands with autism and their parents. Increased head circumference was associated with a higher (more severe) ADI-R social algorithm score. Macrocephaly is associated with delayed onset of language. Although mean head circumference and rates of macrocephaly are increased in autism, a high degree of variability is present, underscoring the complex clinical heterogeneity of the disorder. The wide distribution of head circumference in autism has major implications for genetic, neuroimaging, and other neurobiological research. PMID:17022081

Diagnostic change and the increased prevalence of autism

PubMed Central

King, Marissa; Bearman, Peter

2009-01-01

Background Increased autism prevalence rates have generated considerable concern. However, the contribution of changes in diagnostic practices to increased prevalence rates has not been thoroughly examined. Debates over the role of diagnostic substitution also continue. California has been an important test case in these controversies. The objective of this study was to determine the extent to which the increased prevalence of autism in California has been driven by changes in diagnostic practices, diagnostic substitution and diagnostic accretion. Methods Retrospective case record examination of 7003 patients born before 1987 with autism who were enrolled with the California Department of Developmental Services between 1992 and 2005 was carried out. Of principal interest were 631 patients with a sole diagnosis of mental retardation (MR) who subsequently acquired a diagnosis of autism. The outcome of interest was the probability of acquiring a diagnosis of autism as a result of changes in diagnostic practices was calculated. The probability of diagnostic change is then used to model the proportion of the autism caseload arising from changing diagnostic practices. Results The odds of a patient acquiring an autism diagnosis were elevated in periods in which the practices for diagnosing autism changed. The odds of change in years in which diagnostic practices changed were 1.68 [95% confidence interval (CI) 1.11–2.54], 1.55 (95% CI 1.03–2.34), 1.58 (95% CI 1.05–2.39), 1.82 (95% CI 1.23–2.7) and 1.61 (95% CI 1.09–2.39). Using the probability of change between 1992 and 2005 to generalize to the population with autism, it is estimated that 26.4% (95% CI 16.25–36.48) of the increased autism caseload in California is uniquely associated with diagnostic change through a single pathway—individuals previously diagnosed with MR. Conclusion Changes in practices for diagnosing autism have had a substantial effect on autism caseloads, accounting for one-quarter of the

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

PubMed

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.

Children with autism show specific handwriting impairments

PubMed Central

Fuentes, Christina T.; Mostofsky, Stewart H.; Bastian, Amy J.

2009-01-01

Background: Handwriting skills, which are crucial for success in school, communication, and building children’s self-esteem, have been observed to be poor in individuals with autism. Little information exists on the handwriting of children with autism, without delineation of specific features that can contribute to impairments. As a result, the specific aspects of handwriting in which individuals with autism demonstrate difficulty remain unknown. Methods: A case-control study of handwriting samples from children with and without autism spectrum disorders (ASD) was performed using the Minnesota Handwriting Assessment. Samples were scored on an individual letter basis in 5 categories: legibility, form, alignment, size, and spacing. Subjects were also tested on the Wechsler Intelligence Scale for Children–IV and the Physical and Neurological Examination for Subtle (Motor) Signs. Results: We found that children with ASD do indeed show overall worse performance on a handwriting task than do age- and intelligence-matched controls. More specifically, children with ASD show worse quality of forming letters but do not show differences in their ability to correctly size, align, and space their letters. Within the ASD group, motor skills were significantly predictive of handwriting performance, whereas age, gender, IQ, and visuospatial abilities were not. Conclusions: We addressed how different elements of handwriting contribute to impairments observed in children with autism. Our results suggest that training targeting letter formation, in combination with general training of fine motor control, may be the best direction for improving handwriting performance in children with autism. GLOSSARY ADI-R = Autism Diagnostic Interview–Revised; ADOS-G = Autism Diagnostic Observation Schedule–Generic; ASD = autism spectrum disorders; DICA-IV = Diagnostic Interview for Children and Adolescents, 4th edition; DSM-IV = Diagnostic and Statistical Manual of Mental Disorders, 4th

A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases.

PubMed

McInnes, L Alison; González, Patricia Jiménez; Manghi, Elina R; Esquivel, Marcela; Monge, Silvia; Delgado, Marietha Fallas; Fournier, Eduardo; Bondy, Pamela; Castelle, Kathryn

2005-03-21

Autism is a heritable developmental disorder of communication and socialization that has not been well studied in Hispanic populations. Therefore, we are collecting and evaluating all possible cases of autism from a population isolate in the Central Valley of Costa Rica (CVCR) for a clinical and genetic study. We are assessing all subjects and parents, as appropriate, using the newly translated Spanish versions of the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) as well as tests of intelligence and adaptive behavior. Detailed obstetric and family medical/psychiatric histories are taken. All cases are tested for Fragile X and will be extensively evaluated for cytogenetic abnormalities. To date we have obtained clinical evaluations on over 76 cases of possible autism referred to our study and report data for the initial 35 complete cases. The mean age of the probands is 6.7 years, and 31 of the 35 cases are male. Twenty-one of the cases have IQs <50 and only 6 cases have IQs > or = 70. Over half of the mothers had complications during pregnancy and/or delivery. No cases have tested positively for Fragile X or PKU. Chromosomal G-banding is not yet complete for all cases. Diagnostic data gathered on cases of autism in the CVCR using Spanish versions of the ADI-R and ADOS look similar to that generated by studies of English-speaking cases. However, only 17% of our cases have IQs within the normal range, compared to the figure of 25% seen in most studies. This result reflects an ascertainment bias in that only severe cases of autism come to treatment in the CVCR because there are no government-sponsored support programs or early intervention programs providing an incentive to diagnose autism. The severity of mental retardation seen in most of our cases may also be exaggerated by the lack of early intervention programs and the use of IQ tests without Costa Rican norms. Still, we must formally train healthcare providers

Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation.

PubMed

Monteiro, Sonia A; Spinks-Franklin, Adiaha; Treadwell-Deering, Diane; Berry, Leandra; Sellers-Vinson, Sherry; Smith, Eboni; Proud, Monica; Voigt, Robert G

2015-12-01

Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children. © The Author(s) 2015.

Dimensional Structure of the Autism Phenotype: Relations between Early Development and Current Presentation

ERIC Educational Resources Information Center

Kamp-Becker, Inge; Ghahreman, Mardjan; Smidt, Judith; Remschmidt, Helmut

2009-01-01

The dimensional structure of higher functioning autism phenotype was investigated by factor analysis. The goal of this study was to identify the degree to which early symptoms of autism (measured using the ADI-R) could be predictive of the current symptoms of autism as identified using the ADOS, the adaptive behavior scales, IQ scores and theory…

Effects of low frequency repetitive transcranial magnetic stimulation (rTMS) on gamma frequency oscillations and event-related potentials during processing of illusory figures in autism.

PubMed

Sokhadze, Estate M; El-Baz, Ayman; Baruth, Joshua; Mathai, Grace; Sears, Lonnie; Casanova, Manuel F

2009-04-01

Previous studies by our group suggest that the neuropathology of autism is characterized by a disturbance of cortical modularity. In this model a decrease in the peripheral neuropil space of affected minicolumns provides for an inhibitory deficit and a readjustment in their signal to noise bias during information processing. In this study we proposed using low frequency transcranial magnetic stimulation (rTMS) as a way increasing the surround inhibition of minicolumns in autism. Thirteen patients (ADOS and ADI-R diagnosed) and equal number of controls participated in the study. Repetitive TMS was delivered at 0.5 Hz, 2 times per week for 3 weeks. Outcome measures based on event-related potentials (ERP), induced gamma activity, and behavioral measures showed significant post-TMS improvement. The results suggest that rTMS offers a potential therapeutic intervention for autism.

Re-adjusting the cut-off score of the Korean version of the Childhood Autism Rating Scale for high-functioning individuals with autism spectrum disorder.

PubMed

Kwon, Hyuk-Jin; Yoo, Hee-Jeong; Kim, Joo-Hyun; Noh, Dong-Hyun; Sunwoo, Hyun-Jung; Jeon, Ye Seul; Lee, Sang-Youn; Jo, Ye-Ul; Bong, Gui-Young

2017-10-01

The current cut-off score of the Korean version of the Childhood Autism Rating Scale (K-CARS) does not seem to be sensitive enough to precisely diagnose high-functioning autism. The aim of this study was to identify the optimal cut-off score of K-CARS for diagnosing high-functioning individuals with autism spectrum disorders (ASD). A total of 329 participants were assessed by the Korean versions of the Autism Diagnostic Interview - Revised (K-ADI-R), Autism Diagnostic Observation Schedule (K-ADOS), and K-CARS. IQ and Social Maturity Scale scores were also obtained. The true positive and false negative rates of K-CARS were 77.2% and 22.8%, respectively. Verbal IQ (VIQ) and Social Quotient (SQ) were significant predictors of misclassification. The false negative rate increased to 36.0% from 19.8% when VIQ was >69.5, and the rate increased to 44.1% for participants with VIQ > 69.5 and SQ > 75.5. In addition, if SQ was >83.5, the false negative rate increased to 46.7%, even if the participant's VIQ was ≤69.5. Optimal cut-off scores were 28.5 (for VIQ ≤ 69.5 and SQ ≤ 75.5), 24.25 (for VIQ > 69.5 and SQ > 75.5), and 24.5 (for SQ > 83.5), respectively. The likelihood of a false negative error increases when K-CARS is used to diagnose high-functioning autism and Asperger's syndrome. For subjects with ASD and substantial verbal ability, the cut-off score for K-CARS should be re-adjusted and/or supplementary diagnostic tools might be needed to enhance diagnostic accuracy for ASD. © 2017 The Authors. Psychiatry and Clinical Neurosciences © 2017 Japanese Society of Psychiatry and Neurology.

Having Older Siblings is Associated with Less Severe Social Communication Symptoms in Young Children with Autism Spectrum Disorder.

PubMed

Ben-Itzchak, Esther; Zukerman, Gil; Zachor, Ditza A

2016-11-01

Among typically developing children, having sibling relationships promotes the development of social skills. This is a retrospective study of the effect of having sibling/s on the severity of the clinical presentation of autism spectrum disorder (ASD). The study included 112 children, 99 males and 15 females, mean age 29.6 ± 9.2 months, diagnosed with ASD. The study population was composed of a group of children with ASD who had older typically developing sibling/s (n = 56) pair-matched for age and cognitive level to a group of children with ASD without sibling/s. Each participant underwent a comprehensive assessment using standardized tests. The group with older sibling/s had less severe observed social deficits (Autism Diagnostic Observation Schedule-Social Affect calibrated severity scales [ADOS-SA-CSS]) and fewer reported non-verbal communication impairments (Autism Diagnostic Interview-Revised [ADI-R]). Regression analyses revealed that, for the ADOS-SA-CSS, higher cognitive level and having older sibling/s were associated with less severe observed social affect deficits. This model explained 32.0 % of the variance. For the ADI-R communication scores, older age, higher cognitive level and having older sibling/s were associated with less severe reported non-verbal communication impairments. This model explained 33.0 % of the variance. The main finding in this study is that a familial factor, specifically having older sibling/s, was associated with better social communication abilities in children with ASD, in addition to age and cognitive ability. Having sibling/s may offer opportunities for the child with ASD to experience social interactions with children and to acquire communication skills.

INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD): development and validation.

PubMed

Juneja, Monica; Mishra, Devendra; Russell, Paul S S; Gulati, Sheffali; Deshmukh, Vaishali; Tudu, Poma; Sagar, Rajesh; Silberberg, Donald; Bhutani, Vinod K; Pinto, Jennifer M; Durkin, Maureen; Pandey, Ravindra M; Nair, M K C; Arora, Narendra K

2014-05-01

To develop and validate INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD). Diagnostic test evaluation by cross sectional design. Four tertiary pediatric neurology centers in Delhi and Thiruvanthapuram, India. Children aged 2-9 years were enrolled in the study. INDT-ASD and Childhood Autism Rating Scale (CARS) were administered in a randomly decided sequence by trained psychologist, followed by an expert evaluation by DSM-IV TR diagnostic criteria (gold standard). Psychometric parameters of diagnostic accuracy, validity (construct, criterion and convergent) and internal consistency. 154 children (110 boys, mean age 64.2 mo) were enrolled. The overall diagnostic accuracy (AUC=0.97, 95% CI 0.93, 0.99; P<0.001) and validity (sensitivity 98%, specificity 95%, positive predictive value 91%, negative predictive value 99%) of INDT-ASD for Autism spectrum disorder were high, taking expert diagnosis using DSM-IV-TR as gold standard. The concordance rate between the INDT-ASD and expert diagnosis for 'ASD group' was 82.52% [Cohen's k=0.89; 95% CI (0.82, 0.97); P=0.001]. The internal consistency of INDT-ASD was 0.96. The convergent validity with CARS (r = 0.73, P= 0.001) and divergent validity with Binet-Kamat Test of intelligence (r = -0.37; P=0.004) were significantly high. INDT-ASD has a 4-factor structure explaining 85.3% of the variance. INDT-ASD has high diagnostic accuracy, adequate content validity, good internal consistency high criterion validity and high to moderate convergent validity and 4-factor construct validity for diagnosis of Autistm spectrum disorder.

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

PubMed

Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

2017-05-18

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

Validation of existing diagnosis of autism in mainland China using standardised diagnostic instruments.

PubMed

Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Zhang, Zhixiang; Matthews, Fiona E; Baron-Cohen, Simon; Brayne, Carol

2015-11-01

Research to date in mainland China has mainly focused on children with autistic disorder rather than Autism Spectrum Conditions and the diagnosis largely depended on clinical judgment without the use of diagnostic instruments. Whether children who have been diagnosed in China before meet the diagnostic criteria of Autism Spectrum Conditions is not known nor how many such children would meet these criteria. The aim of this study was to evaluate children with a known diagnosis of autism in mainland China using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised to verify that children who were given a diagnosis of autism made by Chinese clinicians in China were mostly children with severe autism. Of 50 children with an existing diagnosis of autism made by Chinese clinicians, 47 children met the diagnosis of autism on the Autism Diagnostic Observation Schedule algorithm and 44 children met the diagnosis of autism on the Autism Diagnostic Interview-Revised algorithm. Using the Gwet's alternative chance-corrected statistic, the agreement between the Chinese diagnosis and the Autism Diagnostic Observation Schedule diagnosis was very good (AC1 = 0.94, p < 0.005, 95% confidence interval (0.86, 1.00)), so was the agreement between the Chinese diagnosis and the Autism Diagnostic Interview-Revised (AC1 = 0.91, p < 0.005, 95% confidence interval (0.81, 1.00)). The agreement between the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised was lower but still very good (AC1 = 0.83, p < 0.005). © The Author(s) 2015.

Validation of existing diagnosis of autism in mainland China using standardised diagnostic instruments

PubMed Central

Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Zhang, Zhixiang; Matthews, Fiona E; Baron-Cohen, Simon; Brayne, Carol

2016-01-01

Research to date in mainland China has mainly focused on children with autistic disorder rather than Autism Spectrum Conditions and the diagnosis largely depended on clinical judgment without the use of diagnostic instruments. Whether children who have been diagnosed in China before meet the diagnostic criteria of Autism Spectrum Conditions is not known nor how many such children would meet these criteria. The aim of this study was to evaluate children with a known diagnosis of autism in mainland China using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview–Revised to verify that children who were given a diagnosis of autism made by Chinese clinicians in China were mostly children with severe autism. Of 50 children with an existing diagnosis of autism made by Chinese clinicians, 47 children met the diagnosis of autism on the Autism Diagnostic Observation Schedule algorithm and 44 children met the diagnosis of autism on the Autism Diagnostic Interview–Revised algorithm. Using the Gwet’s alternative chance-corrected statistic, the agreement between the Chinese diagnosis and the Autism Diagnostic Observation Schedule diagnosis was very good (AC1 = 0.94, p < 0.005, 95% confidence interval (0.86, 1.00)), so was the agreement between the Chinese diagnosis and the Autism Diagnostic Interview–Revised (AC1 = 0.91, p < 0.005, 95% confidence interval (0.81, 1.00)). The agreement between the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview–Revised was lower but still very good (AC1 = 0.83, p < 0.005). PMID:25757721

The Autism Diagnostic Observation Schedule--Toddler Module: A New Module of a Standardized Diagnostic Measure for Autism Spectrum Disorders

ERIC Educational Resources Information Center

Luyster, Rhiannon; Gotham, Katherine; Guthrie, Whitney; Coffing, Mia; Petrak, Rachel; Pierce, Karen; Bishop, Somer; Esler, Amy; Hus, Vanessa; Oti, Rosalind; Richler, Jennifer; Risi, Susan; Lord, Catherine

2009-01-01

The Autism Diagnostic Observation Schedule (ADOS; Lord et al., J Autism Dev Disord, 30(3):205-223, 2000) is widely accepted as a "gold standard" diagnostic instrument, but it is of restricted utility with very young children. The purpose of the current project was to modify the ADOS for use in children under 30 months of age. A modified ADOS, the…

Diagnostic Differentiation of Autism Spectrum Disorders and Pragmatic Language Impairment

ERIC Educational Resources Information Center

Reisinger, Lisa M.; Cornish, Kim M.; Fombonne, Eric

2011-01-01

The present study examined diagnostic differentiation between school-aged children with autism spectrum disorders (ASD) and children with pragmatic language impairment (PLI). Standardized diagnostic instruments were used to investigate the relationship between severity of "autism triad" impairments and group membership. The Autism Diagnostic…

Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: a preliminary report.

PubMed

Ross, Heather E; Guo, Ying; Coleman, Karlene; Ousley, Opal; Miller, Andrew H

2013-07-01

22q11.2 deletion syndrome (22q11DS) is a genetic disorder that conveys a significant risk for the development of social behavior disorders, including autism and schizophrenia. Also known as DiGeorge syndrome, 22q11DS is the second most common genetic disorder and is characterized by an elevated risk for immune dysfunction, up to 77% of individuals have an identifiable immune deficiency. We hypothesize that this immune dysfunction could contribute to the elevated risk of impaired social behavior seen in 22q11DS. The current study begins to elucidate these immune deficits and link them with the behavioral alterations associated with the disorder. Serum concentrations of a series of cytokines were examined, using a multiplex immunoassay, in sixteen individuals with 22q11DS and screened for autism-related behavior using the Autism Diagnostic Interview-Revised (ADI-R). This preliminary study examined correlations between specific immune proteins and each of the ADI-R algorithm scores (social, communication, and repetitive behavior). The inflammatory cytokine IL-1β, as well as the ratio between the inflammatory cytokine IL-6 and the anti-inflammatory cytokine IL-10, were correlated with social scores (r=0.851, p=0.004; r=0.580, p=0.018). In addition, the inflammatory cytokines interferon gamma and IL-12p70 were correlated with repetitive behaviors (r=0.795, p=0.033; r=0.774, p=0.002). Interestingly, IL-12 has been reported to be increased in autistic children. These data show a positive association between severity of autism-related behaviors and level of serum concentrations of inflammatory cytokines in individuals with 22q11DS, providing a basis for further inquiry. Copyright © 2013 Elsevier Inc. All rights reserved.

Evaluation of the Revised Algorithm of Autism Diagnostic Observation Schedule (ADOS) in the Diagnostic Investigation of High-Functioning Children and Adolescents with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Kamp-Becker, Inge; Ghahreman, Mardjan; Heinzel-Gutenbrunner, Monika; Peters, Mira; Remschmidt, Helmut; Becker, Katja

2013-01-01

The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured, standardized assessment designed for use in diagnostic evaluation of individuals with suspected autism spectrum disorder (ASD). The ADOS has been effective in categorizing children who definitely have autism or not, but has lower specificity and sometimes sensitivity for…

The Added Value of the Combined Use of the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule: Diagnostic Validity in a Clinical Swedish Sample of Toddlers and Young Preschoolers

ERIC Educational Resources Information Center

Zander, Eric; Sturm, Harald; Bölte, Sven

2015-01-01

The diagnostic validity of the new research algorithms of the Autism Diagnostic Interview-Revised and the revised algorithms of the Autism Diagnostic Observation Schedule was examined in a clinical sample of children aged 18-47 months. Validity was determined for each instrument separately and their combination against a clinical consensus…

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

PubMed

Buxbaum, Joseph D; Bolshakova, Nadia; Brownfeld, Jessica M; Anney, Richard Jl; Bender, Patrick; Bernier, Raphael; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael; Freitag, Christine M; Hallmayer, Joachim; Geschwind, Daniel; Klauck, Sabine M; Nurnberger, John I; Oliveira, Guiomar; Pinto, Dalila; Poustka, Fritz; Scherer, Stephen W; Shih, Andy; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica; Gallagher, Louise

2014-01-01

There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. 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 began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center. Over 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children's or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the focus is on sequencing complete

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

PubMed Central

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 began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center. Results Over 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children’s or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the

The Use of the Autism Diagnostic Interview-Revised with a Latino Population of Adolescents and Adults with Autism

ERIC Educational Resources Information Center

Magana, Sandy; Smith, Leann E.

2013-01-01

Research shows that Latinos are less likely to be diagnosed with autism than their non-Latino counterparts. One factor that may contribute to these differences is that autism diagnostic instruments have not been adapted for the Latino population. The present study compared scores from the Autism Diagnostic Interview-Revised for two groups: 48…

Diagnosing Autism Spectrum Disorders in Adults: The Use of Autism Diagnostic Observation Schedule (ADOS) Module 4

ERIC Educational Resources Information Center

Bastiaansen, Jojanneke A.; Meffert, Harma; Hein, Simone; Huizinga, Petra; Ketelaars, Cees; Pijnenborg, Marieke; Bartels, Arnold; Minderaa, Ruud; Keysers, Christian; de Bildt, Annelies

2011-01-01

Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It…

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

PubMed

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.

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

PubMed

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

2016-10-01

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 (x(2) = 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. © The Author(s) 2016.

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

PubMed Central

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

High Concordance of Parent and Teacher Attention-Deficit/Hyperactivity Disorder Ratings in Medicated and Unmedicated Children with Autism Spectrum Disorders

PubMed Central

Aman, Michael G.; Arnold, L. Eugene; Lane, David M.; Loveland, Katherine A.; Santos, Cynthia W.; Casat, Charles D.; Mansour, Rosleen; Jerger, Susan W.; Ezzell, Sarah; Factor, Perry; Vanwoerden, Salome; Ye, Enstin; Narain, Punya; Cleveland, Lynne A.

2012-01-01

Abstract Objective Parent and teacher ratings of core attention-deficit/hyperactivity disorder (ADHD) symptoms, as well as behavioral and emotional problems commonly comorbid with ADHD, were compared in children with autism spectrum disorders (ASD). Method Participants were 86 children (66 boys; mean: age=9.3 years, intelligence quotient [IQ]=84) who met American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) criteria for an ASD on the Autism Diagnostic Interview–Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). Parent and teacher behavioral ratings were compared on the Conners' Parent and Teacher Rating Scales (CPRS-R; CTRS-R). The degree to which age, ASD subtype, severity of autistic symptomatology, and medication status mediated this relationship was also examined. Results Significant positive correlations between parent and teacher ratings suggest that a child's core ADHD symptoms—as well as closely related externalizing symptoms—are perceived similarly by parents and teachers. With the exception of oppositional behavior, there was no significant effect of age, gender, ASD subtype, or autism severity on the relationship between parent and teacher ratings. In general, parents rated children as having more severe symptomatology than did teachers. Patterns of parent and teacher ratings were highly correlated, both for children who were receiving medication, and for children who were not. Conclusions Parents and teachers perceived core symptoms of ADHD and closely-related externalizing problems in a similar manner, but there is less agreement on ratings of internalizing problems (e.g., anxiety). The clinical implication of these findings is that both parents and teachers provide important behavioral information about children with ASD. However, when a clinician is unable to access teacher ratings (e.g., during school vacations), parent ratings can provide a reasonable estimate of the child

High concordance of parent and teacher attention-deficit/hyperactivity disorder ratings in medicated and unmedicated children with autism spectrum disorders.

PubMed

Pearson, Deborah A; Aman, Michael G; Arnold, L Eugene; Lane, David M; Loveland, Katherine A; Santos, Cynthia W; Casat, Charles D; Mansour, Rosleen; Jerger, Susan W; Ezzell, Sarah; Factor, Perry; Vanwoerden, Salome; Ye, Enstin; Narain, Punya; Cleveland, Lynne A

2012-08-01

Parent and teacher ratings of core attention-deficit/hyperactivity disorder (ADHD) symptoms, as well as behavioral and emotional problems commonly comorbid with ADHD, were compared in children with autism spectrum disorders (ASD). Participants were 86 children (66 boys; mean: age=9.3 years, intelligence quotient [IQ]=84) who met American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) criteria for an ASD on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). Parent and teacher behavioral ratings were compared on the Conners' Parent and Teacher Rating Scales (CPRS-R; CTRS-R). The degree to which age, ASD subtype, severity of autistic symptomatology, and medication status mediated this relationship was also examined. Significant positive correlations between parent and teacher ratings suggest that a child's core ADHD symptoms-as well as closely related externalizing symptoms-are perceived similarly by parents and teachers. With the exception of oppositional behavior, there was no significant effect of age, gender, ASD subtype, or autism severity on the relationship between parent and teacher ratings. In general, parents rated children as having more severe symptomatology than did teachers. Patterns of parent and teacher ratings were highly correlated, both for children who were receiving medication, and for children who were not. Parents and teachers perceived core symptoms of ADHD and closely-related externalizing problems in a similar manner, but there is less agreement on ratings of internalizing problems (e.g., anxiety). The clinical implication of these findings is that both parents and teachers provide important behavioral information about children with ASD. However, when a clinician is unable to access teacher ratings (e.g., during school vacations), parent ratings can provide a reasonable estimate of the child's functioning in these domains in school. As such

Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.

PubMed

Yang, So Young; Cho, Soo-Churl; Yoo, Hee Jeong; Cho, In Hee; Park, Mira; Kim, Boong-Nyun; Kim, Jae-Won; Shin, Min-Sup; Park, Tae-Won; Son, Jung-Woo; Chung, Un-Sun; Kim, Hyo-Won; Yang, Young-Hui; Kang, Je-Ouk; Kim, Soon Ae

2010-08-02

To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. Our results demonstrated a statistically significant association between autism and SNPs (additive model: rs7294536, chi(2)=9.328, df=2, P=0.002; rs10877969, chi(2)=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: chi(2)=14.122, df=3, P=0.003). In addition, we found that ADI-R scores calculated by using a diagnostic algorithm for failure to develop peer relationships (A2) were higher in subjects having the AA genotype than in subjects having the AG and GG genotypes of rs7294536. Thus, our study provides evidence for a possible association between these SNPs and the phenotype of ASDs. Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

PubMed Central

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

Background 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. Methodology 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. Findings 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. Conclusions 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. PMID:22412832

Validity and Diagnostic Accuracy of Scores from the Autism Diagnostic Observation Schedule-Generic

ERIC Educational Resources Information Center

Reid, Melissa A.

2012-01-01

The purpose of this study was to examine the internal structure, relationships with other variables, and diagnostic accuracy of scores on the Autism Diagnostic Observation Schedule-Generic (ADOS-G; Lord et al., 1999) for the purpose of diagnostic decision-making. Participants were 462 children enrolled in a public school district in the southern…

ADHD severity as it relates to comorbid psychiatric symptomatology in children with Autism Spectrum Disorders (ASD).

PubMed

Mansour, Rosleen; Dovi, Allison T; Lane, David M; Loveland, Katherine A; Pearson, Deborah A

2017-01-01

Comorbid diagnoses identified in pediatric samples have been correlated with a range of outcomes, including greater levels of emotional, behavioral, and educational impairment and the need for more intensive treatment. Given that previous research has documented high levels of comorbid Attention-Deficit/Hyperactivity Disorder (ADHD) in children with Autism Spectrum Disorders (ASD), this study closely examines the relationship between parent-reported ADHD symptoms (i.e., Conners' Parent Rating Scale, Revised [CPRS-R]) and the prevalence of additional comorbid psychiatric diagnoses in a pediatric ASD sample (n=99). Regression analyses revealed that greater severity of ADHD symptomatology was significantly related to a greater number of comorbid psychiatric diagnoses, as identified using the Diagnostic Interview for Children and adolescents, 4th Edition (DICA-IV). Additionally, more severe ADHD symptoms were also associated with higher levels of symptom severity on Child Behavior Checklist (CBCL) syndrome subscales. Interestingly, increasing severity of ASD symptomatology, as measured by the Autism Diagnostic Interview, Revised (ADI-R), was not associated with a higher prevalence of comorbid psychiatric diagnoses or CBCL syndrome severity. Our study concluded that higher levels of ADHD severity-not ASD severity-were associated with a higher prevalence of comorbid psychiatric symptomatology in school-age children with ASD. These findings may encourage clinicians to thoroughly assess ADHD symptomatology in ASD children to better inform treatment planning. Copyright © 2016 Elsevier Ltd. All rights reserved.

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

PubMed

Rossi, Mari; El-Khechen, Dima; Black, Mary Helen; Farwell Hagman, Kelly D; Tang, Sha; Powis, Zöe

2017-05-01

Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). The diagnostic yield observed in patients in our cohort was 25.8% (42 of 163) for positive or likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4 of 120) of patients. Among the positive findings in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features (95.6% vs 27.1%, P < 0.0001; 83.3% vs 21.2%, P < 0.0001, respectively). The majority of the positive findings were in recently identified autism spectrum disorder genes, supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features as the causative genes might evade traditional sequential or panel testing. These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population.

PubMed

Navon, Daniel; Eyal, Gil

2016-03-01

This article builds on Hacking's framework of "dynamic nominalism" to show how knowledge about biological etiology can interact with the "kinds of people" delineated by diagnostic categories in ways that "loop" or modify both over time. The authors use historical materials to show how "geneticization" played a crucial role in binding together autism as a biosocial community and how evidence from genetics research later made an important contribution to the diagnostic expansion of autism. In the second part of the article, the authors draw on quantitative and qualitative analyses of autism rates over time in several rare conditions that are delineated strictly according to genomic mutations in order to demonstrate that these changes in diagnostic practice helped to both increase autism's prevalence and create its enormous genetic heterogeneity. Thus, a looping process that began with geneticization and involved the social effects of genetics research itself transformed the autism population and its genetic makeup.

Diagnosing Autism in Adults with Intellectual Disability: Validation of the DiBAS-R in an Independent Sample

ERIC Educational Resources Information Center

Heinrich, Manuel; Böhm, Julia; Sappok, Tanja

2018-01-01

The study assessed the diagnostic validity of the diagnostic behavioral assessment for autism spectrum disorders-revised (DiBAS-R; 19-item screening scale based on ratings by caregivers) in a clinical sample of 381 adults with ID. Analysis revealed a sensitivity of 0.82 and a specificity of 0.67 in the overall sample (70.3% agreement). Sensitivity…

Update on diagnostic classification in autism

PubMed Central

King, Bryan H.; Navot, Noa; Bernier, Raphael; Webb, Sara Jane

2016-01-01

Purpose of review In the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny. Recent findings This article briefly reviews the history of the diagnosis of autism, the changes that have occurred in the diagnosis over time, and the rationale for change. The most significant changes being introduced with the DSM-5 are highlighted, as well as some of the concerns that will be a focus of attention with respect to the potential impacts going forward. Summary The categorical divisions that characterized the pervasive developmental disorders are now collapsed into a single entity, autism spectrum disorder. The final DSM-5 criteria have yet to be formally compared prospectively against prior criteria, but early indications suggest that the boundaries around the pervasive developmental disorders have not been substantially altered. PMID:24441420

Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism.

PubMed

Nakamura, Kazuhiko; Anitha, Ayyappan; Yamada, Kazuo; Tsujii, Masatsugu; Iwayama, Yoshimi; Hattori, Eiji; Toyota, Tomoko; Suda, Shiro; Takei, Noriyoshi; Iwata, Yasuhide; Suzuki, Katsuaki; Matsuzaki, Hideo; Kawai, Masayoshi; Sekine, Yoshimoto; Tsuchiya, Kenji J; Sugihara, Gen-Ichi; Ouchi, Yasuomi; Sugiyama, Toshiro; Yoshikawa, Takeo; Mori, Norio

2008-12-01

Autism is a pervasive developmental disorder diagnosed in early childhood. Abnormalities of serotonergic neurotransmission have been reported in autism. Serotonin transporter (5-HTT), which modulates serotonin levels, is a major therapeutic target in autism. Therefore, factors that regulate 5-HTT expression might be implicated in autism. One candidate 5-HTT-regulatory protein is the presynaptic protein, syntaxin 1A (STX1A). We examined the association of STX1A with autism in a trio association study using DNA samples from 249 AGRE trios with autistic probands. Only male probands were selected, since autism is more prevalent among males. The probands of 102 trios had IQ>70, and were considered as high functioning autism (HFA). In transmission disequilibrium test (TDT) analysis, rs2293485 (p=0.034) and rs4717806 (p=0.033) showed nominal associations with HFA; modest haplotype association was also observed. The SNPs that showed associations were related to early developmental abnormalities (ADI-R_D). We further compared STX1A mRNA expression in the lymphocytes of drug-naive HFA patients (n=12) and age- and sex-matched controls (n=13). STX1A expression in the HFA group was significantly higher (p=0.001) than that of controls. Thus, we suggest a possible role of STX1A in the pathogenesis of HFA. During early childhood, there is a period of high brain serotonin synthesis that is disrupted in autistic children; STX1A might influence the serotonergic system during this stage of neurodevelopment, as implied by the association with ADI-R_D.

The Role of the Autism Diagnostic Observation Schedule in the Assessment of Autism Spectrum Disorders in School and Community Settings.

PubMed

Akshoomoff, Natacha; Corsello, Christina; Schmidt, Heather

2006-01-01

Autism diagnostic practices among school and clinical psychologists, particularly those using the Autism Diagnostic Observation Schedule (ADOS), were examined using national survey results (N = 132). School and clinical psychologists were similar in following the Best Practice Guidelines for screening, diagnosis and assessment, School psychologists were more likely to include a school or home observation and teacher report than clinical psychologists but evaluated significantly fewer children with autism spectrum disorders per year compared to clinical psychologists. School psychologists who were ADOS users were more likely to consider themselves autism experts and include a review of records than ADOS non-users. Perceived advantages of the ADOS included its strength in capturing ASD-specific behaviors and the standardized structure provided for observation, while diagnostic discrimination and required resources were the most commonly identified disadvantages.

Effects of Extended Release Methylphenidate Treatment on Ratings of Attention-Deficit/Hyperactivity Disorder (ADHD) and Associated Behavior in Children with Autism Spectrum Disorders and ADHD Symptoms

PubMed Central

Santos, Cynthia W.; Aman, Michael G.; Arnold, L. Eugene; Casat, Charles D.; Mansour, Rosleen; Lane, David M.; Loveland, Katherine A.; Bukstein, Oscar G.; Jerger, Susan W.; Factor, Perry; Vanwoerden, Salome; Perez, Evelyn; Cleveland, Lynne A.

2013-01-01

Abstract Objective The purpose of this study was to examine the behavioral effects of four doses of psychostimulant medication, combining extended-release methylphenidate (MPH) in the morning with immediate-release MPH in the afternoon. Method The sample comprised 24 children (19 boys; 5 girls) who met American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV-TR) criteria for an autism spectrum disorder (ASD) on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS), and had significant symptoms of attention-deficit/hyperactivity disorder (ADHD). This sample consisted of elementary school-age, community-based children (mean chronological age=8.8 years, SD=1.7; mean intelligence quotient [IQ]=85; SD=16.8). Effects of four dose levels of MPH on parent and teacher behavioral ratings were investigated using a within-subject, crossover, placebo-controlled design. Results MPH treatment was associated with significant declines in hyperactive and impulsive behavior at both home and school. Parents noted significant declines in inattentive and oppositional behavior, and improvements in social skills. No exacerbation of stereotypies was noted, and side effects were similar to those seen in typically developing children with ADHD. Dose response was primarily linear in the dose range studied. Conclusions The results of this study suggest that MPH formulations are efficacious and well-tolerated for children with ASD and significant ADHD symptoms. PMID:23782128

Effects of extended release methylphenidate treatment on ratings of attention-deficit/hyperactivity disorder (ADHD) and associated behavior in children with autism spectrum disorders and ADHD symptoms.

PubMed

Pearson, Deborah A; Santos, Cynthia W; Aman, Michael G; Arnold, L Eugene; Casat, Charles D; Mansour, Rosleen; Lane, David M; Loveland, Katherine A; Bukstein, Oscar G; Jerger, Susan W; Factor, Perry; Vanwoerden, Salome; Perez, Evelyn; Cleveland, Lynne A

2013-06-01

The purpose of this study was to examine the behavioral effects of four doses of psychostimulant medication, combining extended-release methylphenidate (MPH) in the morning with immediate-release MPH in the afternoon. The sample comprised 24 children (19 boys; 5 girls) who met American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV-TR) criteria for an autism spectrum disorder (ASD) on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS), and had significant symptoms of attention-deficit/hyperactivity disorder (ADHD). This sample consisted of elementary school-age, community-based children (mean chronological age=8.8 years, SD=1.7; mean intelligence quotient [IQ]=85; SD=16.8). Effects of four dose levels of MPH on parent and teacher behavioral ratings were investigated using a within-subject, crossover, placebo-controlled design. MPH treatment was associated with significant declines in hyperactive and impulsive behavior at both home and school. Parents noted significant declines in inattentive and oppositional behavior, and improvements in social skills. No exacerbation of stereotypies was noted, and side effects were similar to those seen in typically developing children with ADHD. Dose response was primarily linear in the dose range studied. The results of this study suggest that MPH formulations are efficacious and well-tolerated for children with ASD and significant ADHD symptoms.

Autism and Autism Spectrum Disorders: Diagnostic Issues for the Coming Decade

ERIC Educational Resources Information Center

Volkmar, Fred R.; State, Matthew; Klin, Ami

2009-01-01

A decade and a half have elapsed since DSM-IV and ICD-10 appeared. During this time the convergent definitions of autism and related disorders in these two diagnostic systems have stimulated tremendous research. In this brief review we summarize areas of progress and continuing controversy, including approaches to diagnosis in more cognitively…

Validation of Existing Diagnosis of Autism in Mainland China Using Standardised Diagnostic Instruments

ERIC Educational Resources Information Center

Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Zhang, Zhixiang; Matthews, Fiona E.; Baron-Cohen, Simon; Brayne, Carol

2015-01-01

Research to date in mainland China has mainly focused on children with autistic disorder rather than Autism Spectrum Conditions and the diagnosis largely depended on clinical judgment without the use of diagnostic instruments. Whether children who have been diagnosed in China before meet the diagnostic criteria of Autism Spectrum Conditions is not…

The Autism Diagnostic Observation Schedule, Toddler Module: Standardized Severity Scores

ERIC Educational Resources Information Center

Esler, Amy N.; Bal, Vanessa Hus; Guthrie, Whitney; Wetherby, Amy; Weismer, Susan Ellis; Lord, Catherine

2015-01-01

Standardized calibrated severity scores (CSS) have been created for Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) Modules 1-4 as a metric of the relative severity of autism-specific behaviors. Total and domain CSS were created for the Toddler Module to facilitate comparison to other modules. Analyses included 388 children with ASD…

Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence.

PubMed

Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H

2009-12-01

The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Sixty-four high-functioning children with ASD were ascertained at 4-6 years of age from several different regional diagnostic and treatment centers. At 6-8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6-8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization. Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills. Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.

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

PubMed

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 <7 lowest PAUSS values. AQ and EQ were not found to vary dependent on ADOS diagnosis. ROC curves for ADOS and PAUSS resulted in AuC values of 0.9 and 0.8, whereas AQ and EQ performed at chance level in the prediction of ASD. This work underscores the convergence of schizophrenia negative symptoms and autistic phenotypes. PAUSS evolved as a measure capturing the continuous nature of autistic behaviors. The definition of extreme-groups based on the dimensional PAUSS may permit future investigations of genetic constellations modulating autistic phenotypes.

Gastrointestinal microbiota in children with autism in Slovakia.

PubMed

Tomova, Aleksandra; Husarova, Veronika; Lakatosova, Silvia; Bakos, Jan; Vlkova, Barbora; Babinska, Katarina; Ostatnikova, Daniela

2015-01-01

Development of Autism Spectrum Disorders (ASD), including autism, is based on a combination of genetic predisposition and environmental factors. Recent data propose the etiopathogenetic role of intestinal microflora in autism. The aim of this study was to elucidate changes in fecal microbiota in children with autism and determine its role in the development of often present gastrointestinal (GI) disorders and possibly other manifestations of autism in Slovakia. The fecal microflora of 10 children with autism, 9 siblings and 10 healthy children was investigated by real-time PCR. The fecal microbiota of autistic children showed a significant decrease of the Bacteroidetes/Firmicutes ratio and elevation of the amount of Lactobacillus spp. Our results also showed a trend in the incidence of elevated Desulfovibrio spp. in children with autism reaffirmed by a very strong association of the amount of Desulfovibrio spp. with the severity of autism in the Autism Diagnostic Interview (ADI) restricted/repetitive behavior subscale score. The participants in our study demonstrated strong positive correlation of autism severity with the severity of GI dysfunction. Probiotic diet supplementation normalized the Bacteroidetes/Firmicutes ratio, Desulfovibrio spp. and the amount of Bifidobacterium spp. in feces of autistic children. We did not find any correlation between plasma levels of oxytocin, testosterone, DHEA-S and fecal microbiota, which would suggest their combined influence on autism development. This pilot study suggests the role of gut microbiota in autism as a part of the "gut-brain" axis and it is a basis for further investigation of the combined effect of microbial, genetic, and hormonal changes for development and clinical manifestation of autism. Copyright © 2014 Elsevier Inc. All rights reserved.

First impressions of adults with autism improve with diagnostic disclosure and increased autism knowledge of peers.

PubMed

Sasson, Noah J; Morrison, Kerrianne E

2017-10-01

A practical consideration for many intellectually able adults with autism spectrum disorder (ASD) is whether to disclose their diagnostic status or try to mask their autistic characteristics to avoid judgment and discrimination. Here, we assessed first impressions of adults with ASD and typically developing controls ( N = 40) made by typically developing observers ( N = 215) when their diagnostic status was either withheld, accurately provided, or inaccurately provided. First impressions were less favorable for ASD participants compared to typically developing controls across a range of judgments, but were significantly more positive when accurately labeled as ASD compared to when no label was provided, when mislabeled as typically developing, or when mislabeled as having schizophrenia. For typically developing participants, ratings did not change when accurately labeled but improved when mislabeled as ASD. Greater autistic traits for the ASD and typically developing participants were associated with less favorable first impressions, and females were rated more favorably than males. Autism knowledge of the raters, but not age, IQ, or autistic traits, was positively associated with more favorable impressions of ASD participants. Collectively, these findings suggest that first impressions for intellectually able adults with ASD improve with diagnostic disclosure and increased autism understanding on the part of peers.

Autism and Diagnostic Substitution: Evidence from a Study of Adults with a History of Developmental Language Disorder

ERIC Educational Resources Information Center

Bishop, Dorothy V. M.; Whitehouse, Andrew J. O.; Watt, Helen J.; Line, Elizabeth A.

2008-01-01

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A…

A Behavioral Comparison of Male and Female Adults with High Functioning Autism Spectrum Conditions

PubMed Central

Lai, Meng-Chuan; Lombardo, Michael V.; Pasco, Greg; Ruigrok, Amber N. V.; Wheelwright, Sally J.; Sadek, Susan A.; Chakrabarti, Bhismadev; Baron-Cohen, Simon

2011-01-01

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. PMID:21695147

Does Sex Influence the Diagnostic Evaluation of Autism Spectrum Disorder in Adults?

ERIC Educational Resources Information Center

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 G. M.

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 1,244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more…

Diagnosing Autism in a Clinical Sample of Adults with Intellectual Disabilities: How Useful Are the "ADOS" and the "ADI-R"?

ERIC Educational Resources Information Center

Sappok, Tanja; Diefenbacher, Albert; Budczies, Jan; Schade, Christoph; Grubich, Claudia; Bergmann, Thomas; Bolte, Sven; Dziobek, Isabel

2013-01-01

Intellectual disability (ID) and autism spectrum disorder (ASD) are frequently co-occurring conditions. Carefully diagnosing ASD in individuals with ID would allow for more tailored clinical interventions that would improve mental health and quality of life. In this study, we evaluated the psychometric properties of the "Autism Diagnostic…

New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age

ERIC Educational Resources Information Center

Kim, So Hyun; Lord, Catherine

2012-01-01

Autism Diagnostic Interview-Revised (Rutter et al. in "Autism diagnostic interview-revised." Western Psychological Services, Los Angeles, 2003) diagnostic algorithms specific to toddlers and young preschoolers were created using 829 assessments of children aged from 12 to 47 months with ASD, nonspectrum disorders, and typical development. The…

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

PubMed

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

Brief Report: An Exploratory Study of the Diagnostic Reliability for Autism Spectrum Disorder

ERIC Educational Resources Information Center

Taylor, Lauren J.; Eapen, Valsamma; Maybery, Murray; Midford, Sue; Paynter, Jessica; Quarmby, Lyndsay; Smith, Timothy; Williams, Katrina; Whitehouse, Andrew J.

2017-01-01

Previous research shows inconsistency in clinician-assigned diagnoses of Autism Spectrum Disorder (ASD). We conducted an exploratory study that examined the concordance of diagnoses between a multidisciplinary assessment team and a range of independent clinicians throughout Australia. Nine video-taped Autism Diagnostic Observation Schedule (ADOS)…

Regional Alterations in Purkinje Cell Density in Patients with Autism

PubMed Central

Skefos, Jerry; Cummings, Christopher; Enzer, Katelyn; Holiday, Jarrod; Weed, Katrina; Levy, Ezra; Yuce, Tarik; Kemper, Thomas; Bauman, Margaret

2014-01-01

Neuropathological studies, using a variety of techniques, have reported a decrease in Purkinje cell (PC) density in the cerebellum in autism. We have used a systematic sampling technique that significantly reduces experimenter bias and variance to estimate PC densities in the postmortem brains of eight clinically well-documented individuals with autism, and eight age- and gender-matched controls. Four cerebellar regions were analyzed: a sensorimotor area comprised of hemispheric lobules IV–VI, crus I & II of the posterior lobe, and lobule X of the flocculonodular lobe. Overall PC density was thus estimated using data from all three cerebellar lobes and was found to be lower in the cases with autism as compared to controls, an effect that was most prominent in crus I and II (p<0.05). Lobule X demonstrated a trend towards lower PC density in only the males with autism (p = 0.05). Brain weight, a correlate of tissue volume, was found to significantly contribute to the lower lobule X PC density observed in males with autism, but not to the finding of lower PC density in crus I & II. Therefore, lower crus I & II PC density in autism is more likely due to a lower number of PCs. The PC density in lobule X was found to correlate with the ADI-R measure of the patient's use of social eye contact (R2 = −0.75, p = 0.012). These findings support the hypothesis that abnormal PC density may contribute to selected clinical features of the autism phenotype. PMID:24586223

[Schooling of patients exhibiting Autism Spectrum Disorders without mental retardation].

PubMed

Grimm, D; Assouline, B; Piero, A

2015-12-01

Autism Spectrum Disorders belong to Pervasive Development Disorders. Although access to education is recommended by the French National High Authority for Health (HAS), the practice remains limited and the reasons for the low education rate of these children have still not been sufficiently explored in the literature. The main objective of this study was to analyze the links between Autism Spectrum Disorder without mental retardation, psychiatric comorbidity and education. The secondary objective was to analyze the cognitive and contextual factors that could limit educational inclusion. Eighty-three autistic patients (3-18years old; 73 males and 10 females) with childhood autism, atypical autism or Asperger's syndrome (criteria from the International Classification of Diseases-10) without mental retardation and in education were assessed at the Alpine Centre for Early Diagnosis of Autism. The sample included 45 subjects with childhood autism, 12 subjects with atypical autism and 26 subjects with Asperger's syndrome. The diagnosis was based on the Autism Diagnostic Interview Revised (ADI-R), in accordance with the recommendations of the HAS, the Autism Diagnostic Observation Schedule (ADOS) and the Wechsler Intelligence Scale for Children, 4th edition (WISC-IV). Our results showed that childhood autism and atypical autism were mainly found in nursery and primary school, whereas Asperger's syndrome was mainly found in secondary school (Chi(2)=18.23; df=6; P<.006). Individuals with childhood autism and atypical autism were more likely to receive the support of a special educational assistant (Chi(2)=15.61; df=2; P<.000) and underwent a higher number of consultations and treatment episodes than those with Asperger's syndrome (Chi(2)=27.83; df=14; P<.015). The cognitive profiles obtained with the WISC-IV also differed: the Verbal Comprehension Index (VCI) and Working Memory Index (WMI) were higher for Asperger's syndrome than for childhood autism and atypical autism

Translation and Cultural Appropriateness of the Autism Diagnostic Observation Schedule-2 in Afrikaans

ERIC Educational Resources Information Center

Smith, Lesia; Malcolm-Smith, Susan; de Vries, Petrus J.

2017-01-01

Autism Diagnostic Observation Schedule-2 is the "gold standard" autism spectrum disorder observational assessment, and it is increasingly used in South Africa. However, its use is limited to English speakers, as it has not been translated into the country's other 10 official languages. Moreover, the cultural appropriateness of this tool…

Narrative production in children with autism spectrum disorder (ASD) and children with attention-deficit/hyperactivity disorder (ADHD): Similarities and differences.

PubMed

Kuijper, Sanne J M; Hartman, Catharina A; Bogaerds-Hazenberg, Suzanne T M; Hendriks, Petra

2017-01-01

The present study focuses on the similarities and differences in language production between children with autism spectrum disorder (ASD) and children with attention-deficit/hyperactivity disorder (ADHD). In addition, we investigated whether Theory of Mind (ToM), working memory, and response inhibition are associated with language production. Narratives, produced by 106 Dutch-speaking children (36 with ASD, 34 with ADHD, and 36 typically developing) aged 6 to 12 during ADOS assessment, were examined on several linguistic measures: verbal productivity, speech fluency, syntactic complexity, lexical semantics, and discourse pragmatics. Children were tested on ToM, working memory, and response inhibition and parents filled in the Children's Communication Checklist (CCC-2). Gold-standard diagnostic measures (Autism Diagnostic Observation Schema [ADOS], Autism Diagnostic Interview Revised [ADI-R], and the Parent Interview for Child Symptoms [PICS]) were administered to all children to confirm diagnosis. Regarding similarities, both clinical groups showed impairments in narrative performance relative to typically developing children. These were confirmed by the CCC-2. These impairments were not only present on pragmatic measures, such as the inability to produce a narrative in a coherent and cohesive way, but also on syntactic complexity and their production of repetitions. As for differences, children with ADHD but not children with ASD showed problems in their choice of referring expressions and speech fluency. ToM and working memory performance but not response inhibition were associated with many narrative skills, suggesting that these cognitive mechanisms explain some of the impairments in language production. We conclude that children with ASD and children with ADHD manifest multiple and diverse language production problems, which may partly relate to their problems in ToM and working memory. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Between a ROC and a Hard Place: Decision Making and Making Decisions about Using the SCQ

ERIC Educational Resources Information Center

Corsello, Christina; Hus, Vanessa; Pickles, Andrew; Risi, Susan; Cook, Edwin H., Jr.; Leventhal, Bennett L.; Lord, Catherine

2007-01-01

Background: The Social Communication Questionnaire (SCQ), formerly the Autism Screening Questionnaire (ASQ), is based on a well-validated parent interview, the Autism Diagnostic Interview (ADI). It has shown promise as a screening measure for autism spectrum disorders (ASDs) in a research-referred older sample, though recent studies with younger…

Tracing the temporal stability of autism spectrum diagnosis and severity as measured by the Autism Diagnostic Observation Schedule: A systematic review and meta-analysis.

PubMed

Bieleninik, Łucja; Posserud, Maj-Britt; Geretsegger, Monika; Thompson, Grace; Elefant, Cochavit; Gold, Christian

2017-01-01

Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects. We included people of all ages with autism spectrum disorder/autism or at risk of having autism spectrum disorder, who were diagnosed and followed up for at least 12 months using the Autism Diagnostic Observation Schedule (ADOS). Both continuous ADOS scores and dichotomous diagnostic categories were pooled in random-effects meta-analysis and meta-regression. Of 1443 abstracts screened, 44 were eligible of which 40 studies contained appropriate data for meta-analysis. A total of 5771 participants from 7 months of age to 16.5 years were included. Our analyses showed no change in ADOS scores across time as measured by Calibrated Severity Scores (mean difference [MD] = 0.05, 95% CI -0.26 to 0.36). We observed a minor but statistically significant change in ADOS total raw scores (MD = -1.51, 95% CI -2.70 to -0.32). There was no improvement in restricted and repetitive behaviours (standardised MD [SMD] = -0.04, 95% CI -0.19 to 0.11), but a minor improvement in social affect over time (SMD = -0.31, 95% CI -0.50 to -0.12). No changes were observed for meeting the autism spectrum disorder criteria over time (risk difference [RD] = -0.01, 95% CI -0.03 to 0.01), but a significant change for meeting autism criteria over time (RD = -0.18, 95% CI -0.29 to -0.07). On average, there was a high

Tracing the temporal stability of autism spectrum diagnosis and severity as measured by the Autism Diagnostic Observation Schedule: A systematic review and meta-analysis

PubMed Central

Geretsegger, Monika; Thompson, Grace; Elefant, Cochavit

2017-01-01

Background Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. Methods We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects. We included people of all ages with autism spectrum disorder/autism or at risk of having autism spectrum disorder, who were diagnosed and followed up for at least 12 months using the Autism Diagnostic Observation Schedule (ADOS). Both continuous ADOS scores and dichotomous diagnostic categories were pooled in random-effects meta-analysis and meta-regression. Results Of 1443 abstracts screened, 44 were eligible of which 40 studies contained appropriate data for meta-analysis. A total of 5771 participants from 7 months of age to 16.5 years were included. Our analyses showed no change in ADOS scores across time as measured by Calibrated Severity Scores (mean difference [MD] = 0.05, 95% CI -0.26 to 0.36). We observed a minor but statistically significant change in ADOS total raw scores (MD = -1.51, 95% CI -2.70 to -0.32). There was no improvement in restricted and repetitive behaviours (standardised MD [SMD] = -0.04, 95% CI -0.19 to 0.11), but a minor improvement in social affect over time (SMD = -0.31, 95% CI -0.50 to -0.12). No changes were observed for meeting the autism spectrum disorder criteria over time (risk difference [RD] = -0.01, 95% CI -0.03 to 0.01), but a significant change for meeting autism criteria over time (RD = -0.18, 95% CI -0.29 to -0.07). On

Effect of gluten free diet on gastrointestinal and behavioral indices for children with autism spectrum disorders: a randomized clinical trial.

PubMed

Ghalichi, Faezeh; Ghaemmaghami, Jamal; Malek, Ayyoub; Ostadrahimi, Alireza

2016-11-01

Genetic and environmental factors are both responsible for the etiology of autism spectrum disorders (ASD). Although epidemiological studies have been conducted to clarify the association between restriction diets and ASD, the conclusion remains unclear. This study was undertaken to investigate the effect of gluten free diet (GFD) on gastrointestinal symptoms and behavioral indices in children with ASD. In this randomized clinical trial, 80 children diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) were assigned into GFD (n=40) and regular diet (RD) (n=40) groups for 6 weeks. At the beginning and end of the intervention, the ROME Ш questionnaire for evaluating gastrointestinal symptoms and Gilliam Autism Rating Scale 2 questionnaire (GARS-2) for assessing psychometric properties were completed. Of the 80 children, 53.9% had gastrointestinal abnormalities. In the GFD group, the prevalence of gastrointestinal symptoms decreased significantly (P<0.05) after intake of GFD (40.57% vs. 17.10%) but increased insignificantly in the RD group (42.45% vs. 44.05%). GFD intervention resulted in a significant decrease in behavioral disorders (80.03±14.07 vs. 75.82±15.37, P<0.05) but an insignificant increase in the RD group (79.92±15.49 vs. 80.92±16.24). This study suggested that GFD may be effective in controlling gastrointestinal symptoms and ASD behaviors.

Adie's syndrome: some new observations.

PubMed Central

Thompson, H S

1977-01-01

Adie's syndrome is a disease of unknown etiology. We known where the damage is, and which nerves are involved. We even know something of how the nerves react after the damage is done, but we don't known what causes the primary injury. The first step in working a jigsaw puzzle is to getall of the pieces right side up and take a good look at them. Some of the jigsaw pieces handled in this paper are listed below. Some of them are new observations; many of them are old concepts, partly modified and partly made secure by new facts. 1. Not all "tonic pupils" are due to "Adie's syndrome"; some are due to local injury and some to a generalized peripheral neuropathy (Table II). 2. All patients should have serologic tests for shyphilis. In this series one in six had positive serology. 3. The incidence of Adie's syndrome in Iowa in the early 1970's was approximately 4.7 per 100,000 population per year. 4. The prevalence of Adie's syndrome, therefore, was approximately 2 per 1000. 5. The mean age of onset of Adie's syndrome was about 32.2 years (Figure 1A). 6. The sex ratio was 2.6 females to each male. 7. Right eyes and left eyes were involved at approximately the same rate (Figure 2). 8. The incidence of second eye involvement in unilateral cases was about 4% per year during the first decade of the disease (Figure 18). 9. If this rate of second eye involvement (4% per year) persists during subsequent decades, then most Adie's pupils will eventually become bilateral. 10. The incidence of Adie's syndrome in a largely caucasian patient group is independent of iris color (Figure 4). 11. Only 10% of patients with Adie's syndrome had completely normal muscle stretch reflexes. 12. The muscle stretch reflexes in the arms were just as frequently imparied as those in th elegs, but the degree of impariment tended to be more severe in the ankles and triceps. 13. When there was any light reaction remaining in an Adie's pupil, a segmental paralysis of the sphincter muscle could be seen

Adie's syndrome: some new observations.

PubMed

Thompson, H S

1977-01-01

Adie's syndrome is a disease of unknown etiology. We known where the damage is, and which nerves are involved. We even know something of how the nerves react after the damage is done, but we don't known what causes the primary injury. The first step in working a jigsaw puzzle is to getall of the pieces right side up and take a good look at them. Some of the jigsaw pieces handled in this paper are listed below. Some of them are new observations; many of them are old concepts, partly modified and partly made secure by new facts. 1. Not all "tonic pupils" are due to "Adie's syndrome"; some are due to local injury and some to a generalized peripheral neuropathy (Table II). 2. All patients should have serologic tests for shyphilis. In this series one in six had positive serology. 3. The incidence of Adie's syndrome in Iowa in the early 1970's was approximately 4.7 per 100,000 population per year. 4. The prevalence of Adie's syndrome, therefore, was approximately 2 per 1000. 5. The mean age of onset of Adie's syndrome was about 32.2 years (Figure 1A). 6. The sex ratio was 2.6 females to each male. 7. Right eyes and left eyes were involved at approximately the same rate (Figure 2). 8. The incidence of second eye involvement in unilateral cases was about 4% per year during the first decade of the disease (Figure 18). 9. If this rate of second eye involvement (4% per year) persists during subsequent decades, then most Adie's pupils will eventually become bilateral. 10. The incidence of Adie's syndrome in a largely caucasian patient group is independent of iris color (Figure 4). 11. Only 10% of patients with Adie's syndrome had completely normal muscle stretch reflexes. 12. The muscle stretch reflexes in the arms were just as frequently imparied as those in th elegs, but the degree of impariment tended to be more severe in the ankles and triceps. 13. When there was any light reaction remaining in an Adie's pupil, a segmental paralysis of the sphincter muscle could be seen

Usability and reliability of a remotely administered adult autism assessment, the autism diagnostic observation schedule (ADOS) module 4.

PubMed

Schutte, Jamie L; McCue, Michael P; Parmanto, Bambang; McGonigle, John; Handen, Benjamin; Lewis, Allen; Pulantara, I Wayan; Saptono, Andi

2015-03-01

The Autism Diagnostic Observation Schedule (ADOS) Module 4 is an autism assessment designed for verbally fluent adolescents and adults. Because of a shortage of available clinical expertise, it can be difficult for adults to receive a proper autism spectrum disorder (ASD) diagnostic assessment. A potential option to address this shortage is remote assessment. The objective of this study was to examine the feasibility, usability, and reliability of administering the ADOS Module 4 remotely using the Versatile and Integrated System for Telerehabilitation (VISYTER). VISYTER consists of computer stations at the client site and clinician site for video communication and a Web portal for managing and coordinating the assessment process. Twenty-three adults with an ASD diagnosis participated in a within-subject crossover design study in which both a remote ADOS and a face-to-face ADOS were administered. After completing the remote ADOS, participants completed a satisfaction survey. Participant satisfaction with the remote ADOS delivery system was high. The kappa value was greater than 0.61 on 21 of 31 ADOS items. There was substantial agreement on ADOS classification (i.e., diagnosis) between assessments delivered face-to-face versus assessments delivered remotely (interclass coefficient=0.92). Non-agreement may have been due to outside factors or practice effect despite a washout period. The results of this study demonstrate that an autism assessment designed to be delivered face to face can be administered remotely using an integrated Web-based system with high levels of usability and reliability.

Test of the Angle Detecting Inclined Sensor (ADIS) Technique for Measuring Space Radiation

NASA Astrophysics Data System (ADS)

Connell, J. J.; Lopate, C.; McLaughlin, K. R.

2008-12-01

In February 2008 we exposed an Angle Detecting Inclined Sensor (ADIS) prototype to beams of 150 MeV/u 78Kr and fragments at the National Superconducting Cyclotron Laboratory's (NSCL) Coupled Cyclotron Facility (CCF). ADIS is a highly innovative and uniquely simple detector configuration used to determine the angles of incidence of heavy ions in energetic charged particle instruments. Corrections for angle of incidence are required for good charge and mass separation. An ADIS instrument is under development to fly on the GOES-R series of weather satellites. The prototype tested consisted of three ADIS detectors, two of which were inclined at an angle to the telescope axis, forming the initial detectors in a five-detector telescope stack. By comparing the signals from the ADIS detectors, the angle of incidence may be determined and a pathlength correction applied to charge and mass determinations. Thus, ADIS replaces complex position sensing detectors with a system of simple, reliable and robust Si detectors. Accelerator data were taken at multiple angles to both primary and secondary beams with a spread of energies. This test instrument represents an improvement over the previous ADIS prototype in that it used oval inclined detectors and a much lower-mass support structure, thus reducing the number of events passing through dead material. We will present the results of this test. The ADIS instrument development project was partially funded by NASA under the Living With a Star (LWS) Targeted Research and Technology program (grant NAG5-12493).

Applying Machine Learning to Facilitate Autism Diagnostics: Pitfalls and Promises

ERIC Educational Resources Information Center

Bone, Daniel; Goodwin, Matthew S.; Black, Matthew P.; Lee, Chi-Chun; Audhkhasi, Kartik; Narayanan, Shrikanth

2015-01-01

Machine learning has immense potential to enhance diagnostic and intervention research in the behavioral sciences, and may be especially useful in investigations involving the highly prevalent and heterogeneous syndrome of autism spectrum disorder. However, use of machine learning in the absence of clinical domain expertise can be tenuous and lead…

The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm and Standardized Severity Scores

ERIC Educational Resources Information Center

Hus, Vanessa; Lord, Catherine

2014-01-01

The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4…

The autism diagnostic observation schedule, module 4: revised algorithm and standardized severity scores.

PubMed

Hus, Vanessa; Lord, Catherine

2014-08-01

The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4 algorithm and calibrates raw overall and domain totals to provide metrics of autism spectrum disorder (ASD) symptom severity. Sensitivity and specificity of the revised Module 4 algorithm exceeded 80 % in the overall sample. Module 4 calibrated severity scores provide quantitative estimates of ASD symptom severity that are relatively independent of participant characteristics. These efforts increase comparability of ADOS scores across modules and should facilitate efforts to examine symptom trajectories from toddler to adulthood.

Diagnostic stability of autism spectrum disorder in toddlers prospectively identified in a community-based setting: Behavioural characteristics and predictors of change over time.

PubMed

Barbaro, Josephine; Dissanayake, Cheryl

2017-10-01

Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that predict diagnostic change over time. The stability and change of autism spectrum disorder diagnoses were investigated from 24 to 48 months in 77 children drawn from the Social Attention and Communication Study. Diagnostic stability was high, with 88.3% overall stability and 85.5% autism spectrum disorder stability. The behavioural markers at 24 months that contributed to diagnostic shift off the autism spectrum by 48 months included better eye contact, more directed vocalisations, the integration of gaze and directed vocalisations/gestures and higher non-verbal developmental quotient. These four variables correctly predicted 88.7% of children into the autism spectrum disorder-stable and autism spectrum disorder-crossover groups overall, with excellent prediction for the stable group (96.2%) and modest prediction for the crossover group (44.4%). Furthermore, non-verbal developmental quotient at 24 months accounted for the significant improvement across time in 'Social Affect' scores on the Autism Diagnostic Observation Schedule for both groups and was the only unique predictor of diagnostic crossover. These findings contribute to the body of evidence on the feasibility of diagnoses at earlier ages to facilitate children's access to interventions to promote positive developmental outcomes.

Convergent Validity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC) and Childhood Autism Rating Scales (CARS)

ERIC Educational Resources Information Center

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

2010-01-01

Previous studies analyzed the reliability as well as sensitivity and specificity of the Autism Spectrum Disorder-Diagnostic for Children (ASD-DC). This study further examines the psychometric properties of the ASD-DC by assessing whether the ASD-DC has convergent validity against a psychometrically sound observational instrument for Autistic…

Test of the Angle Detecting Inclined Sensor (ADIS) Technique for Measuring Space Radiation

NASA Astrophysics Data System (ADS)

Connell, J. J.; Lopate, C.; McLaughlin, K. R.

2009-12-01

In February 2008 we exposed an Angle Detecting Inclined Sensor (ADIS) prototype to beams of 150 MeV/u 78Kr and fragments at the National Superconducting Cyclotron Laboratory's (NSCL) Coupled Cyclotron Facility (CCF). ADIS is a highly innovative and uniquely simple detector configuration used to determine the angles of incidence of heavy ions in energetic charged particle instruments. Corrections for angle of incidence are required for good charge and mass separation. An ADIS instrument is under development to fly on the GOES-R series of weather satellites. The prototype tested consisted of three ADIS detectors, two of which were inclined at an angle to the telescope axis, forming the initial detectors in a five-detector telescope stack. By comparing the signals from the ADIS detectors, the angle of incidence may be determined and a pathlength correction applied to charge and mass determinations. Thus, ADIS replaces complex position sensing detectors with a system of simple, reliable and robust Si detectors. Accelerator data were taken at multiple angles to both primary and secondary beams with a spread of energies. This test instrument represents an improvement over the previous ADIS prototype in that it used oval inclined detectors and a much lower-mass support structure, thus reducing the number of events passing through dead material. These data show a charge peak resolution of 0.18 ± 0.01 e at Br (Z = 35), excellent for such a simple instrument. We will present the results of this test. The ADIS instrument development project was partially funded by NASA under the Living With a Star (LWS) Targeted Research and Technology program (grant NAG5-12493).

Autism in the Faroe Islands: Diagnostic Stability from Childhood to Early Adult Life

PubMed Central

Kočovská, Eva; Billstedt, Eva; Ellefsen, Asa; Kampmann, Hanna; Gillberg, I. Carina; Biskupstø, Rannvá; Andorsdóttir, Guðrið; Stóra, Tormóður; Minnis, Helen; Gillberg, Christopher

2013-01-01

Childhood autism or autism spectrum disorder (ASD) has been regarded as one of the most stable diagnostic categories applied to young children with psychiatric/developmental disorders. The stability over time of a diagnosis of ASD is theoretically interesting and important for various diagnostic and clinical reasons. We studied the diagnostic stability of ASD from childhood to early adulthood in the Faroe Islands: a total school age population sample (8–17-year-olds) was screened and diagnostically assessed for AD in 2002 and 2009. This paper compares both independent clinical diagnosis and Diagnostic Interview for Social and Communication Disorders (DISCO) algorithm diagnosis at two time points, separated by seven years. The stability of clinical ASD diagnosis was perfect for AD, good for “atypical autism”/PDD-NOS, and less than perfect for Asperger syndrome (AS). Stability of the DISCO algorithm subcategory diagnoses was more variable but still good for AD. Both systems showed excellent stability over the seven-year period for “any ASD” diagnosis, although a number of clear cases had been missed at the original screening in 2002. The findings support the notion that subcategories of ASD should be collapsed into one overarching diagnostic entity with subgrouping achieved on other “non-autism” variables, such as IQ and language levels and overall adaptive functioning. PMID:23476144

Cerebellar gray matter and lobular volumes correlate with core autism symptoms

PubMed Central

D'Mello, Anila M.; Crocetti, Deana; Mostofsky, Stewart H.; Stoodley, Catherine J.

2015-01-01

Neuroanatomical differences in the cerebellum are among the most consistent findings in autism spectrum disorder (ASD), but little is known about the relationship between cerebellar dysfunction and core ASD symptoms. The newly-emerging existence of cerebellar sensorimotor and cognitive subregions provides a new framework for interpreting the functional significance of cerebellar findings in ASD. Here we use two complementary analyses — whole-brain voxel-based morphometry (VBM) and the SUIT cerebellar atlas — to investigate cerebellar regional gray matter (GM) and volumetric lobular measurements in 35 children with ASD and 35 typically-developing (TD) children (mean age 10.4 ± 1.6 years; range 8–13 years). To examine the relationships between cerebellar structure and core ASD symptoms, correlations were calculated between scores on the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview (ADI) and the VBM and volumetric data. Both VBM and the SUIT analyses revealed reduced GM in ASD children in cerebellar lobule VII (Crus I/II). The degree of regional and lobular gray matter reductions in different cerebellar subregions correlated with the severity of symptoms in social interaction, communication, and repetitive behaviors. Structural differences and behavioral correlations converged on right cerebellar Crus I/II, a region which shows structural and functional connectivity with fronto-parietal and default mode networks. These results emphasize the importance of the location within the cerebellum to the potential functional impact of structural differences in ASD, and suggest that GM differences in cerebellar right Crus I/II are associated with the core ASD profile. PMID:25844317

A Systematic Review of the Diagnostic Stability of Autism Spectrum Disorder

ERIC Educational Resources Information Center

Woolfenden, Sue; Sarkozy, Vanessa; Ridley, Greta; Williams, Katrina

2012-01-01

There is debate in the current literature regarding the permanence of an Autism Spectrum Disorder (ASD) diagnosis. We undertook a systematic review of the diagnostic stability of ASD to summarise current evidence. A comprehensive search strategy was used to identify studies. Participants were children with ASD. Risk of bias was assessed by…

"Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder.

PubMed

de Marchena, Ashley; Miller, Judith

2017-04-01

Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon. Respondents completed a 13-item questionnaire about frank ASD, which was analyzed using a mixed-methods approach. Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation. Respondents reported the most highly specific behaviors associated with frank presentations were a general sense of impaired reciprocity, quality of eye contact, atypical vocal prosody, presence of motor mannerisms, and atypical gait or posture. In general, respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation. Although unstudied empirically, "frank" presentations of ASD are familiar to diagnosing clinicians, and appear to be based on behaviors both central to ASD diagnostic criteria (e.g., impaired reciprocity), and absent from diagnostic criteria (e.g., atypical gait or posture). We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 653-662. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.

PubMed

Anitha, A; Nakamura, Kazuhiko; Yamada, Kazuo; Suda, Shiro; Thanseem, Ismail; Tsujii, Masatsugu; Iwayama, Yoshimi; Hattori, Eiji; Toyota, Tomoko; Miyachi, Taishi; Iwata, Yasuhide; Suzuki, Katsuaki; Matsuzaki, Hideo; Kawai, Masayoshi; Sekine, Yoshimoto; Tsuchiya, Kenji; Sugihara, Gen-Ichi; Ouchi, Yasuomi; Sugiyama, Toshiro; Koizumi, Keita; Higashida, Haruhiro; Takei, Nori; Yoshikawa, Takeo; Mori, Norio

2008-10-05

Autism is a pervasive developmental disorder diagnosed in early childhood. Abnormalities of serotonergic neurotransmission have been reported in autism. Serotonin transporter (SERT) modulates serotonin levels, and is a major therapeutic target in autism. Factors that regulate SERT expression might be implicated in the pathophysiology of autism. One candidate SERT regulatory protein is the roundabout axon guidance molecule, ROBO. SerT expression in Drosophila is regulated by robo; it plays a vital role in mammalian neurodevelopment also. Here, we examined the associations of ROBO3 and ROBO4 with autism, in a trio association study using DNA from 252 families recruited to AGRE. Four SNPs of ROBO3 (rs3923890, P = 0.023; rs7925879, P = 0.017; rs4606490, P = 0.033; and rs3802905, P = 0.049) and a single SNP of ROBO4 (rs6590109, P = 0.009) showed associations with autism; the A/A genotype of rs3923890 showed lower ADI-R_A scores, which reflect social interaction. Significant haplotype associations were also observed for ROBO3 and ROBO4. We further compared the mRNA expressions of ROBO1, ROBO2, ROBO3, and ROBO4 in the lymphocytes of 19 drug-naïve autistic patients and 20 age- and sex-matched controls. Expressions of ROBO1 (P = 0.018) and ROBO2 (P = 0.023) were significantly reduced in the autistic group; the possibility of using the altered expressions of ROBO as peripheral markers for autism, may be explored. In conclusion, we suggest a possible role of ROBO in the pathogenesis of autism. Abnormalities of ROBO may lead to autism either by interfering with serotonergic system, or by disrupting neurodevelopment. To the best of our knowledge, this is the first report relating ROBO with autism.

Autism and the cognitive processing triad: a case for revising the criteria in the diagnostic and statistical manual.

PubMed

Cashin, Andrew; Gallagher, Hilary; Newman, Claire; Hughes, Mark

2012-08-01

The next iteration of the Diagnostic and Statistical Manual of Mental Disorders is due for release in May 2013. The current diagnostic criteria for autism are based on a behavioral triad of impairment, which has been helpful for diagnosis and identifying the need for intervention, but is not useful with regard to developing interventions. Revised diagnostic criteria are needed to better inform research and therapeutic intervention. This article examines the research underpinning the behavioral triad of impairment to consider alternative explanations and a more useful framing for diagnosis and intervention. Contemporary research and literature on autism were used in this study. It is proposed that the cognitive processing triad of impaired abstraction, impaired theory of mind, and impaired linguistic processing become the triad of impairment for autism in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. These are investigable at the diagnostic level and can usefully inform intervention. Further, in addressing the debate on whether restrictive and repetitive behavior should remain central to diagnosis or be replaced by a deficit in imagination, the authors argue that both behavioral manifestations are underpinned by impaired abstraction. © 2012 Wiley Periodicals, Inc.

[Screening interview for early detection of high-functioning autism spectrum disorders].

PubMed

Hoffmann, Wiebke; Heinzel-Gutenbrunner, Monika; Becker, Katja; Kamp-Becker, Inge

2015-05-01

Various different questionnaires are available for the screening of autism spectrum disorders (ASD). These screening instruments show high sensitivity and are able to identify a large number of individuals with ASD, but they lack the specificity to differentiate individuals with ASD from those children and adolescents with other complex neurobehavioural disorders (such as attention-deficit/hyperactivity disorder, emotional disorders, and others), especially for those without intellectual disabilities. The present study evaluates the data of 309 individuals (153 with high-functioning ASD, 156 with other psychiatric disorders, IQ > 70) to find out whether selected items of the ADI-R can be used for an economic and sensitive screening of high-functioning ASD. The results show that 8 items of the ADI-R can be used to discriminate high-functioning ASD and other psychiatric disorders. A cutoff of 5 led to a sensitivity of 0.93 and a cutoff of 6 to a specificity of 0.74. The combination of early onset, serious abnormalities in social contact with stereotyped or compulsive-ritualized behaviour or interests can be detected with few interview questions for screening of ASD. Nevertheless, a more detailed and specific assessment in an expert setting should follow the screening process.

White Matter Fractional Anisotrophy Differences and Correlates of Diagnostic Symptoms in Autism

ERIC Educational Resources Information Center

Cheung, C.; Chua, S. E.; Cheung, V.; Khong, P. L.; Tai, K. S.; Wong, T. K. W.; Ho, T. P.; McAlonan, G. M.

2009-01-01

Background: Individuals with autism have impairments in 3 domains: communication, social interaction and repetitive behaviours. Our previous work suggested early structural and connectivity abnormalities in prefrontal-striato-temporal-cerebellar networks but it is not clear how these are linked to diagnostic indices. Method: Children with autism…

Clinical outcomes of interactive, intensive and individual (3i) play therapy for children with ASD: a two-year follow-up study.

PubMed

Tilmont Pittala, Elodie; Saint-Georges-Chaumet, Yann; Favrot, Claire; Tanet, Antoine; Cohen, David; Saint-Georges, Catherine

2018-05-12

The outcomes of psycho-educational interventions for Autism Spectrum Disorders (ASDs) comorbid with severe to moderate intellectual disability (ID) are insufficiently documented. In this prospective study, we examined a developmental individual, interactive and intensive approach, called the '3i method', which is based on play therapy. Twenty DSM-IV-TR ASD subjects (mean chronological age 63.8 ± 37.8 months; mean developmental age 19.5 ± 6.6 months) were included and followed the 3i method for 24 months. Developmental and behavioural skills were assessed at baseline and after 24 months using the VABS, PEP-R and Nadel Imitation scale. Autism severity was evaluated using the Child Autism Rating Scale (CARS) and the Autism Diagnostic Interview (ADI-R). After 2 years of the 3i method, our 3 primary outcome variables significantly increased (VABS developmental age of socialization increased by 83%, age of communication by 34%, and Nadel Imitation score by 53%). Almost all VABS and PEP-R domains significantly improved. Additionally, increases in the VABS socialization score were positively correlated with the total number of treatment hours and CARS score; all ADI-R areas significantly decreased; and diagnoses had changed in 47.5% of the subjects (37% for PDD-NOS and even 10.5% for ID without PDD). Children who followed the 3i method for 2 years had significantly improved behavioural and developmental skills and showed a clear decrease in autism severity. These results suggest that the 3i method may be useful for autistic children by improving their daily interactions with their social environment. was retrospectively registered on May 20th, 2014 by the French Agency for drug and health (ANSM) under number ID-RCB 2014-A00542-45, reference: B148558-31.

The Autism Diagnostic Observation Schedule, Toddler Module: Standardized Severity Scores

PubMed Central

Esler, Amy N.; Bal, Vanessa Hus; Guthrie, Whitney; Wetherby, Amy; Weismer, Susan Ellis; Lord, Catherine

2016-01-01

Standardized calibrated severity scores (CSS) have been created for Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) Modules 1–4 as a metric of the relative severity of autism-specific behaviors. Total and domain CSS were created for the Toddler Module to facilitate comparison to other modules. Analyses included 388 children with ASD age 12 to 30 months and were replicated on 435 repeated assessments from 127 children with ASD. Compared to raw scores, associations between total and domain CSS and participant characteristics were reduced in the original sample. Verbal IQ effects on Social Affect-CSS were not reduced in the replication sample. Toddler Module CSS increases comparability of ADOS-2 scores across modules and allows studies of symptom trajectories to extend to earlier ages. PMID:25832801

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

PubMed

Kelleher, Raymond J; Geigenmüller, Ute; Hovhannisyan, Hayk; Trautman, Edwin; Pinard, Robert; Rathmell, Barbara; Carpenter, Randall; Margulies, David

2012-01-01

Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR) signaling pathway contributes to autism susceptibility. Single-nucleotide variants in genes encoding components of the mGluR signaling pathway were identified by high-throughput multiplex sequencing of pooled samples from 290 non-syndromic autism cases and 300 ethnically matched controls on two independent next-generation platforms. This analysis revealed significant enrichment of rare functional variants in the mGluR pathway in autism cases. Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism. In addition, our analysis identified HOMER1, which encodes a postsynaptic density-localized scaffolding protein that interacts with Shank3 to regulate mGluR activity, as a novel autism-risk gene. Rare, potentially deleterious HOMER1 variants identified uniquely in the autism population affected functionally important protein regions or regulatory sequences and co-segregated closely with autism among children of affected families. We also identified rare ASD-associated coding variants predicted to have damaging effects on components of the Ras/MAPK cascade. Collectively, these findings suggest that altered signaling downstream of mGluRs contributes to the pathogenesis of non-syndromic autism.

High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in Autism

PubMed Central

Hovhannisyan, Hayk; Trautman, Edwin; Pinard, Robert; Rathmell, Barbara; Carpenter, Randall; Margulies, David

2012-01-01

Identification of common molecular pathways affected by genetic variation in autism is important for understanding disease pathogenesis and devising effective therapies. Here, we test the hypothesis that rare genetic variation in the metabotropic glutamate-receptor (mGluR) signaling pathway contributes to autism susceptibility. Single-nucleotide variants in genes encoding components of the mGluR signaling pathway were identified by high-throughput multiplex sequencing of pooled samples from 290 non-syndromic autism cases and 300 ethnically matched controls on two independent next-generation platforms. This analysis revealed significant enrichment of rare functional variants in the mGluR pathway in autism cases. Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism. In addition, our analysis identified HOMER1, which encodes a postsynaptic density-localized scaffolding protein that interacts with Shank3 to regulate mGluR activity, as a novel autism-risk gene. Rare, potentially deleterious HOMER1 variants identified uniquely in the autism population affected functionally important protein regions or regulatory sequences and co-segregated closely with autism among children of affected families. We also identified rare ASD-associated coding variants predicted to have damaging effects on components of the Ras/MAPK cascade. Collectively, these findings suggest that altered signaling downstream of mGluRs contributes to the pathogenesis of non-syndromic autism. PMID:22558107

Diagnosis and Classification in Autism.

ERIC Educational Resources Information Center

Waterhouse, Lynn; And Others

1996-01-01

This study compared four systems for diagnosis of autism (Diagnostic and Statistical Manuals of Mental Disorders III, III-R, and IV, and the International Classification of Disabilities-10) with 2 empirically derived taxa and 3 social subgroups (aloof, passive, and active but odd) in 194 preschool children with social impairment. Findings support…

New Techniques for High-Contrast Imaging with ADI: The ACORNS-ADI SEEDS Data Reduction Pipeline

NASA Technical Reports Server (NTRS)

Brandt, Timothy D.; McElwain, Michael W.; Turner, Edwin L.; Abe, L.; Brandner, W.; Carson, J.; Egner, S.; Feldt, M.; Golota, T.; Grady, C. A.;

Social Communication Disorder outside Autism? A Diagnostic Classification Approach to Delineating Pragmatic Language Impairment, High Functioning Autism and Specific Language Impairment

ERIC Educational Resources Information Center

Gibson, Jenny; Adams, Catherine; Lockton, Elaine; Green, Jonathan

2013-01-01

Background: Developmental disorders of language and communication present considerable diagnostic challenges due to overlapping of symptomatology and uncertain aetiology. We aimed to further elucidate the behavioural and linguistic profile associated with impairments of social communication occurring outside of an autism diagnosis. Methods: Six to…

Interest level in 2-year-olds with autism spectrum disorder predicts rate of verbal, nonverbal, and adaptive skill acquisition.

PubMed

Klintwall, Lars; Macari, Suzanne; Eikeseth, Svein; Chawarska, Katarzyna

2015-11-01

Recent studies have suggested that skill acquisition rates for children with autism spectrum disorders receiving early interventions can be predicted by child motivation. We examined whether level of interest during an Autism Diagnostic Observation Schedule assessment at 2 years predicts subsequent rates of verbal, nonverbal, and adaptive skill acquisition to the age of 3 years. A total of 70 toddlers with autism spectrum disorder, mean age of 21.9 months, were scored using Interest Level Scoring for Autism, quantifying toddlers' interest in toys, social routines, and activities that could serve as reinforcers in an intervention. Adaptive level and mental age were measured concurrently (Time 1) and again after a mean of 16.3 months of treatment (Time 2). Interest Level Scoring for Autism score, Autism Diagnostic Observation Schedule score, adaptive age equivalent, verbal and nonverbal mental age, and intensity of intervention were entered into regression models to predict rates of skill acquisition. Interest level at Time 1 predicted subsequent acquisition rate of adaptive skills (R(2) = 0.36) and verbal mental age (R(2) = 0.30), above and beyond the effects of Time 1 verbal and nonverbal mental ages and Autism Diagnostic Observation Schedule scores. Interest level at Time 1 also contributed (R(2) = 0.30), with treatment intensity, to variance in development of nonverbal mental age. © The Author(s) 2014.

Autism Training Sourcebook.

ERIC Educational Resources Information Center

Indiana Univ., Bloomington. Indiana Resource Center for Autism.

This collection of articles and bibliographies provides a comprehensive guide to autism. Section 1 presents general information on autism such as characteristics, myths and facts about autism, factors associated with autism, and diagnostic criteria for autism and Asperger's disorder. Section 2, on the family, addresses such aspects as the…

Application of the Repetitive Behavior Scale-Revised--Italian version--in preschoolers with autism spectrum disorder.

PubMed

Fulceri, Francesca; Narzisi, Antonio; Apicella, Fabio; Balboni, Giulia; Baldini, Sara; Brocchini, Jenny; Domenici, Ilaria; Cerullo, Sonia; Igliozzi, Roberta; Cosenza, Angela; Tancredi, Raffaella; Muratori, Filippo; Calderoni, Sara

2016-01-01

Restricted repetitive and stereotyped patterns of behavior, interests, and activities (RRB) are mandatory features for a diagnosis of Autism Spectrum Disorder (ASD) according to the Diagnostic and Statistical Manual of mental disorders-fifth edition (DSM-5). Despite the strong diagnostic role of RRB, their expressiveness and their relationship with other clinical/demographic features in ASD is not fully elucidated. The Italian version of the Repetitive Behavior Scale-Revised (RBS-R) was applied to a relatively large sample of preschool-aged children with ASD who underwent a comprehensive clinical assessment. The relationship between RRB and sex, age, non-verbal IQ, autism severity, as well as the diagnostic accuracy of the RBS-R were explored. Stereotyped and Ritualistic/Sameness behaviors were the most common RRB in preschoolers with ASD, without widespread differences between males and females. No significant correlations between RRB and chronological age, or non-verbal IQ were detected. The expressiveness of ritualistic/sameness behaviors positively correlated with autism severity, assessed through the Calibrated Severity Score (CSS) derived from the Autism Diagnostic Observation Schedule (ADOS). Receiver Operator Characteristic (ROC) analysis showed high diagnostic accuracy using the Global Rating Score, which represents the judgment of the parents of as the RRB affect the child's life. However, while the Global Rating Score performed well, the remaining subscales did not. This investigation extends the limited research on early pattern and associated features of RRB in young children with ASD. The use of the RBS-R may increase the knowledge of the RRB complexity and variability and in turn improve the diagnostic and therapeutic procedures within the autistic spectrum. Copyright © 2015 Elsevier Ltd. All rights reserved.

Perfectly matched layers in a divergence preserving ADI scheme for electromagnetics

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kraus, C.; ETH Zurich, Chair of Computational Science, 8092 Zuerich; Adelmann, A., E-mail: andreas.adelmann@psi.ch

For numerical simulations of highly relativistic and transversely accelerated charged particles including radiation fast algorithms are needed. While the radiation in particle accelerators has wavelengths in the order of 100 {mu}m the computational domain has dimensions roughly five orders of magnitude larger resulting in very large mesh sizes. The particles are confined to a small area of this domain only. To resolve the smallest scales close to the particles subgrids are envisioned. For reasons of stability the alternating direction implicit (ADI) scheme by Smithe et al. [D.N. Smithe, J.R. Cary, J.A. Carlsson, Divergence preservation in the ADI algorithms for electromagnetics,more » J. Comput. Phys. 228 (2009) 7289-7299] for Maxwell equations has been adopted. At the boundary of the domain absorbing boundary conditions have to be employed to prevent reflection of the radiation. In this paper we show how the divergence preserving ADI scheme has to be formulated in perfectly matched layers (PML) and compare the performance in several scenarios.« less

Autism and psychosis expressions diametrically modulate the right temporoparietal junction.

PubMed

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

2017-10-01

The mentalizing network is atypically activated in autism and schizophrenia spectrum disorders. While these disorders are considered diagnostically independent, expressions of both can co-occur in the same individual. We examined the concurrent effect of autism traits and psychosis proneness on the activity of the mentalizing network in 24 neurotypical adults while performing a social competitive game. Activations were observed in the paracingulate cortex and the right temporoparietal junction (rTPJ). Autism traits and psychosis proneness did not modulate activity within the paracingulate or the dorsal component of the rTPJ. However, diametric modulations of autism traits and psychosis proneness were observed in the posterior (rvpTPJ) and anterior (rvaTPJ) subdivisions of the ventral rTPJ, which respectively constitute core regions within the mentalizing and attention-reorienting networks. Within the rvpTPJ, increasing autism tendencies decreased activity, and increasing psychosis proneness increased activity. This effect was reversed within the rvaTPJ. We suggest that this results from an interaction between regions responsible for higher level social cognitive processing (rvpTPJ) and regions responsible for domain-general attentional processes (rvaTPJ). The observed diametric modulation of autism tendencies and psychosis proneness of neuronal activity within the mentalizing network highlights the importance of assessing both autism and psychosis expressions within the individual.

The Diagnosis of Autism and Autism Spectrum Disorder in Low- and Middle-Income Countries: Experience from Jamaica

ERIC Educational Resources Information Center

Samms-Vaughan, Maureen; Rahbar, Mohammad H.; Dickerson, Aisha S.; Loveland, Katherine A.; Hessabi, Manouchehr; Pearson, Deborah A.; Bressler, Jan; Shakespeare-Pellington, Sydonnie; Grove, Megan L.; Coore-Desai, Charlene; Reece, Jody; Boerwinkle, Eric

2017-01-01

The administration requirements of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, widely used in high-income countries, make them less feasible for diagnosis of autism spectrum disorder in low- and middle-income countries. The flexible administration requirements of the Childhood Autism Rating Scale have…

Risk factors for autism: translating genomic discoveries into diagnostics.

PubMed

Scherer, Stephen W; Dawson, Geraldine

2011-07-01

Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a 'standard of care' test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.

New Techniques for High-contrast Imaging with ADI: The ACORNS-ADI SEEDS Data Reduction Pipeline

NASA Astrophysics Data System (ADS)

Brandt, Timothy D.; McElwain, Michael W.; Turner, Edwin L.; Abe, L.; Brandner, W.; Carson, J.; Egner, S.; Feldt, M.; Golota, T.; Goto, M.; Grady, C. A.; Guyon, O.; Hashimoto, J.; Hayano, Y.; Hayashi, M.; Hayashi, S.; Henning, T.; Hodapp, K. W.; Ishii, M.; Iye, M.; Janson, M.; Kandori, R.; Knapp, G. R.; Kudo, T.; Kusakabe, N.; Kuzuhara, M.; Kwon, J.; Matsuo, T.; Miyama, S.; Morino, J.-I.; Moro-Martín, A.; Nishimura, T.; Pyo, T.-S.; Serabyn, E.; Suto, H.; Suzuki, R.; Takami, M.; Takato, N.; Terada, H.; Thalmann, C.; Tomono, D.; Watanabe, M.; Wisniewski, J. P.; Yamada, T.; Takami, H.; Usuda, T.; Tamura, M.

2013-02-01

We describe Algorithms for Calibration, Optimized Registration, and Nulling the Star in Angular Differential Imaging (ACORNS-ADI), a new, parallelized software package to reduce high-contrast imaging data, and its application to data from the SEEDS survey. We implement several new algorithms, including a method to register saturated images, a trimmed mean for combining an image sequence that reduces noise by up to ~20%, and a robust and computationally fast method to compute the sensitivity of a high-contrast observation everywhere on the field of view without introducing artificial sources. We also include a description of image processing steps to remove electronic artifacts specific to Hawaii2-RG detectors like the one used for SEEDS, and a detailed analysis of the Locally Optimized Combination of Images (LOCI) algorithm commonly used to reduce high-contrast imaging data. ACORNS-ADI is written in python. It is efficient and open-source, and includes several optional features which may improve performance on data from other instruments. ACORNS-ADI requires minimal modification to reduce data from instruments other than HiCIAO. It is freely available for download at www.github.com/t-brandt/acorns-adi under a Berkeley Software Distribution (BSD) license. Based on data collected at Subaru Telescope, which is operated by the National Astronomical Observatory of Japan.

Homocysteine as a Diagnostic and Etiopathogenic Factor in Children with Autism Spectrum Disorder.

PubMed

Józefczuk, Jan; Kasprzycka, Wiktoria; Czarnecki, Rafał; Graczyk, Alfreda; Józefczuk, Paweł; Magda, Krzysztof; Lampart, Urszula

2017-08-01

Substantial characteristics of autism are cognitive and psychophysical disorders. Etiopathogenetic factors are thought to be responsible for development of autism in children with genetic predisposition as well as have their effect on the severity of the disorders. The main problem of early identification of patients affected by autism spectrum disorder is that there are no clear diagnostic criteria. The aim of our study was assessment of hair magnesium and serum homocysteine concentrations in children with autism. The presented work is a continuation of previous study in which we investigated the influence of disturbances in magnesium and homocysteine levels in children with autism, performed on a new, larger group of patients. One hundred and forty children had hair magnesium levels analyzed, as well as blood serum levels of homocysteine and magnesium. Hair magnesium analysis was performed using a flame atomic absorption spectrometer, blood serum homocysteine determination was performed using a radioimmunological method, and blood serum magnesium level was determined using a biochemical method. Our research showed normal magnesium blood levels and significantly high homocysteine levels and very low hair magnesium levels. Low concentration of hair magnesium progresses with age. Our hypothesis is that magnesium deficiency, as a relevant epigenetic factor, might be decreasing methylation of homocysteine, therefore decreasing genome transcription and lowering the synaptic plasticity. We suggest that analysis of hair magnesium and serum homocysteine levels might be useful in identification of children with autism spectrum disorder, as well as control of its treatment. Obtained results and performed analysis might therefore justify supplementation of magnesium among children with autism.

Negotiating Knowledge: Parents' Experience of the Neuropsychiatric Diagnostic Process for Children with Autism

ERIC Educational Resources Information Center

Carlsson, Emilia; Miniscalco, Carmela; Kadesjö, Björn; Laakso, Katja

2016-01-01

Background: Parents often recognize problems in their child's development earlier than health professionals do and there is new emphasis on the importance of involving parents in the diagnostic process. In Gothenburg, Sweden, over 100 children were identified as having an autism spectrum disorder (ASD) in 2009-11 through a general population…

The Autism Diagnostic Observation Schedule, Module 4: Application of the Revised Algorithms in an Independent, Well-Defined, Dutch Sample (N = 93)

ERIC Educational Resources Information Center

de Bildt, Annelies; Sytema, Sjoerd; Meffert, Harma; Bastiaansen, Jojanneke A. C. J.

2016-01-01

This study examined the discriminative ability of the revised Autism Diagnostic Observation Schedule module 4 algorithm (Hus and Lord in "J Autism Dev Disord" 44(8):1996-2012, 2014) in 93 Dutch males with Autism Spectrum Disorder (ASD), schizophrenia, psychopathy or controls. Discriminative ability of the revised algorithm ASD cut-off…

The relationship between waiting times and 'adherence' to the Scottish Intercollegiate Guidelines Network 98 guideline in autism spectrum disorder diagnostic services in Scotland.

PubMed

McKenzie, Karen; Forsyth, Kirsty; O'Hare, Anne; McClure, Iain; Rutherford, Marion; Murray, Aja; Irvine, Linda

2016-05-01

The aim of this study was to explore the extent to which the Scottish Intercollegiate Guidelines Network 98 guidelines on the assessment and diagnosis of autism spectrum disorder were adhered to in child autism spectrum disorder diagnostic services in Scotland and whether there was a significant relationship between routine practice which more closely reflected these recommendations (increased adherence) and increased waiting times. Retrospective, cross-sectional case note analysis was applied to data from 80 case notes. Adherence ranged from a possible 0 (no adherence) to 19 (full adherence). Overall, 17/22 of the recommendations were adhered to in over 50 of the 80 cases and in 70 or more cases for 11/22 of the recommendations, with a mean adherence score of 16 (standard deviation = 1.9). No significant correlation was found between adherence and total wait time for untransformed (r = 0.15, p = 0.32) or transformed data (r = 0.12, p = 0.20). The results indicated that the assessment and diagnostic practices were consistent with the relevant Scottish Intercollegiate Guidelines Network 98 guideline recommendations. Increased adherence to the 19 included recommendations was not significantly related to increased total waiting times, indicating that the Scottish Intercollegiate Guidelines Network 98 recommendations have generally been integrated into practice, without a resultant increase in patient waits. © The Author(s) 2015.

Examining the Role of Race, Ethnicity, and Gender on Social and Behavioral Ratings within the Autism Diagnostic Observation Schedule

ERIC Educational Resources Information Center

Harrison, Ashley J.; Long, Kristin A.; Tommet, Douglas C.; Jones, Richard N.

2017-01-01

The Autism Diagnostic Observation Schedule (ADOS) is widely used to assess symptoms of autism spectrum disorder (ASD). Given well-documented differences in social behaviors across cultures, this study examined whether item-level biases exist in ADOS scores across sociodemographic groups (race, ethnicity, and gender). We examined a subset of ten…

Sensitivity and Specificity of Proposed "DSM-5" Diagnostic Criteria for Autism Spectrum Disorder

ERIC Educational Resources Information Center

McPartland, James C.; Reichow, Brian; Volkmar, Fred R.

2012-01-01

Objective: This study evaluated the potential impact of proposed "DSM-5" diagnostic criteria for autism spectrum disorder (ASD). Method: The study focused on a sample of 933 participants evaluated during the "DSM-IV" field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and…

Do individuals with high functioning autism have the IQ profile associated with nonverbal learning disability?

PubMed Central

Williams, Diane L.; Goldstein, Gerald; Kojkowski, Nicole; Minshew, Nancy J.

2008-01-01

Previously researchers have noted a high level of occurrence of the IQ profile associated with nonverbal learning disability (NLD) in Asperger syndrome (ASP) but not in high functioning autism (HFA). We examined the IQ profile scores of a large sample of children (n = 69) and adults (n = 77) with HFA, stringently diagnosed according to ADOS, ADI-R, and DSM-IV criteria, and a corresponding sample of typical child (n = 72) and adult controls (n = 107). At least one of the three primary components of the Wechsler pattern seen in NLD were found in 17–26% of the children and 20–32% of the adults with HFA. All three components occurred in slightly more than 5% of the children and adults with autism. Overall, the VIQ > PIQ profile seen in NLD occurred in 18% of the sample of individuals stringently diagnosed with HFA. Therefore, obtaining this IQ profile is not a valid clinical discriminator between NLD and HFA. PMID:18516234

Diagnostic Substitution for Intellectual Disability: A Flawed Explanation for the Rise in Autism

ERIC Educational Resources Information Center

Nevison, Cynthia D.; Blaxill, Mark

2017-01-01

Time trends in autism spectrum disorder (ASD) and intellectual disability (ID) prevalence from the United States Individuals with Disabilities Education Act data were computed from 2000 to 2011 for each state and each age from 6 to 17. These trends did not support the hypothesis that diagnostic substitution for ID can explain the ASD rise over…

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

ERIC Educational Resources Information Center

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…

Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism.

PubMed

Jacob, Suma; Brune, Camille W; Carter, C S; Leventhal, Bennett L; Lord, Catherine; Cook, Edwin H

2007-04-24

The oxytocin receptor gene (OXTR) has been studied in autism because of the role of oxytocin (OT) in social cognition. Linkage has also been demonstrated to the region of OXTR in a large sample. Two single nucleotide polymorphisms (SNPs) and a haplotype constructed from them in OXTR have been associated with autism in the Chinese Han population. We tested whether these associations replicated in a Caucasian sample with strictly defined autistic disorder. We genotyped the two previously associated SNPs (rs2254298, rs53576) in 57 Caucasian autism trios. Probands met clinical, ADI-R, and ADOS criteria for autistic disorder. Significant association was detected at rs2254298 (p=0.03) but not rs53576. For rs2254298, overtransmission of the G allele to probands with autistic disorder was found which contrasts with the overtransmission of A previously reported in the Chinese Han sample. In both samples, G was more frequent than A. However, in our Caucasian autism trios and the CEU Caucasian HapMap samples the frequency of A was less than that reported in the Chinese Han and Chinese in Bejing HapMap samples. The haplotype test of association did not reveal excess transmission from parents to affected offspring. These findings provide support for association of OXTR with autism in a Caucasian population. Overtransmission of different alleles in different populations may be due to a different pattern of linkage disequilibrium between the marker rs2254298 and an as yet undetermined susceptibility variant in OXTR.

Anxiety Disorders Interview Schedule – Autism Addendum: Reliability and Validity in Children with Autism Spectrum Disorder

PubMed Central

Kerns, Connor Morrow; Renno, Patricia; Kendall, Philip C.; Wood, Jeffrey J.; Storch, Eric A.

2017-01-01

Objective Assessing anxiety in autism spectrum disorder (ASD) is inherently challenging due to overlapping (e.g., social avoidance) and ambiguous symptoms (e.g., fears of change). An ASD addendum to the Anxiety Disorders Interview Schedule–Child/Parent, Parent Version (ADIS/ASA) was developed to provide a systematic approach for differentiating traditional anxiety disorders from symptoms of ASD and more ambiguous, ASD-related anxiety symptoms. Method Inter-rater reliability and convergent and discriminant validity were examined in a sample of 69 youth with ASD (8–13 years, 75% male, IQ:68–143) seeking treatment for anxiety. The parents of participants completed the ADIS/ASA and a battery of behavioral measures. A second rater independently observed and scored recordings of the original interviews. Results Findings suggest reliable measurement of comorbid (ICC=0.85–0.98; κ =0.67–0.91) as well as ambiguous anxiety-like symptoms (ICC=0.87–95, κ=0.77–0.90) in children with ASD. Convergent and discriminant validity were supported for the traditional anxiety symptoms on the ADIS/ASA, whereas convergent and discriminant validity were partially supported for the ambiguous anxiety-like symptoms. Conclusions Results provide evidence for the reliability and validity of the ADIS/ASA as a measure of traditional anxiety categories in youth with ASD, with partial support for the validity of the ambiguous anxiety-like categories. Unlike other measures, the ADIS/ASA differentiates comorbid anxiety disorders from overlapping and ambiguous anxiety-like symptoms in ASD, allowing for more precise measurement and clinical conceptualization. Ambiguous anxiety-like symptoms appear phenomenologically distinct from comorbid anxiety disorders and may reflect either symptoms of ASD or a novel variant of anxiety in ASD. PMID:27925775

Proposed changes to the American Psychiatric Association diagnostic criteria for autism spectrum disorder: implications for young children and their families.

PubMed

Grant, Roy; Nozyce, Molly

2013-05-01

The American Psychiatric Association has revised the diagnostic criteria for their DSM-5 manual. Important changes have been made to the diagnosis of the current (DSM-IV) category of Pervasive Developmental Disorders. This category includes Autistic Disorder (autism), Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The DSM-5 deletes Asperger's Disorder and PDD-NOS as diagnostic entities. This change may have unintended consequences, including the possibility that the new diagnostic framework will adversely affect access to developmental interventions under Individuals with Disabilities Education Act (IDEA) programs, Early Intervention (for birth to 2 years olds) and preschool special education (for 3 and 4 years olds). Changing the current diagnosis of PDD-NOS to a "Social Communication Disorder" focused on language pragmatics in the DSM-5 may restrict eligibility for IDEA programs and limit the scope of services for affected children. Young children who meet current criteria for PDD-NOS require more intensive and multi-disciplinary services than would be available with a communication domain diagnosis and possible service authorization limited to speech-language therapy. Intensive behavioral interventions, inclusive group setting placements, and family support services are typically more available for children with an autism spectrum disorder than with diagnoses reflecting speech-language delay. The diagnostic distinction reflective of the higher language and social functioning between Asperger's Disorder and autism is also undermined by eliminating the former as a categorical diagnosis and subsuming it under autism. This change may adversely affect treatment planning and misinform parents about prognosis for children who meet current criteria for Asperger's Disorder.

Interdisciplinary Team Evaluation: An Effective Method for the Diagnostic Assessment of Autism Spectrum Disorder.

PubMed

Gerdts, Jennifer; Mancini, James; Fox, Emily; Rhoads, Candace; Ward, Tracey; Easley, Erin; Bernier, Raphael A

2018-05-01

The objective of this research is to assess the feasibility of an interdisciplinary team diagnostic assessment model for autism spectrum disorder (ASD). Medical records from 366 patients evaluated for ASD at the Seattle Children's Autism Center (SCAC) were reviewed. ASD diagnostic outcomes, provider satisfaction, engagement in follow-up care, billed time, and reimbursement amounts were compared in patients evaluated through an interdisciplinary team approach (n = 91) with those seen in multidisciplinary evaluations led by either a psychologist (n = 165) or a physician (n = 110). Diagnostic determination was made in 90% of patients evaluated through the interdisciplinary team model in a single day. Rates of ASD diagnosis were similar across the 3 tracks, ranging from 61% to 72%. Demographic characteristics did not impact the likelihood of ASD diagnosis. Rates of patient follow-up care and provider satisfaction were significantly higher in interdisciplinary versus multidisciplinary teams. Interdisciplinary team evaluations billed 1.8 fewer hours yet generated more net hourly clinic income compared with psychology-led multidisciplinary evaluations. An interdisciplinary team approach, focusing on ruling-in or ruling-out ASD, was sufficient to determine ASD diagnosis in most patients seen at the SCAC Interdisciplinary teams generated more clinic income and decreased the time spent in evaluation compared with a psychology-led approach. They did so while maintaining consistency in diagnostic rates, demonstrating increased provider satisfaction and an increased likelihood of engagement in follow-up care.

Brief Report: Concurrent Validity of Autism Symptom Severity Measures

ERIC Educational Resources Information Center

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…

Test Review: Lord, C., Luyster, R. J., Gotham, K., & Guthrie, W. (2012). "Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Manual (Part II): Toddler Module." Torrance, CA: Western Psychological Services, 2012. Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. "Autism Diagnostic Observation Schedule, Second Edition." Torrance, CA: Western Psychological Services, 2012

ERIC Educational Resources Information Center

McCrimmon, Adam; Rostad, Kristin

2014-01-01

This article reviews the "Autism Diagnostic Observation Schedule, Second Edition" (ADOS-2; Lord, Luyster, Gotham, & Guthrie, 2012; Lord, Rutter et al., 2012), a newly updated, semistructured, standardized measure of communication, social interaction, play/imagination, and restricted and/or repetitive behaviors published by Western…

Sociodemographic Barriers to Early Detection of Autism: Screening and Evaluation Using the M-CHAT, M-CHAT-R, and Follow-Up

ERIC Educational Resources Information Center

Khowaja, Meena K.; Hazzard, Ann P.; Robins, Diana L.

2015-01-01

Parents (n = 11,845) completed the Modified Checklist for Autism in Toddlers (or its latest revision) at pediatric visits. Using sociodemographic predictors of maternal education and race, binary logistic regressions were utilized to examine differences in autism screening, diagnostic evaluation participation rates and outcomes, and reasons for…

A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder.

PubMed

Mazurek, Micah O; Lu, Frances; Symecko, Heather; Butter, Eric; Bing, Nicole M; Hundley, Rachel J; Poulsen, Marie; Kanne, Stephen M; Macklin, Eric A; Handen, Benjamin L

2017-09-01

The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger's disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance.

Helicopter time-domain electromagnetic numerical simulation based on Leapfrog ADI-FDTD

NASA Astrophysics Data System (ADS)

Guan, S.; Ji, Y.; Li, D.; Wu, Y.; Wang, A.

2017-12-01

We present a three-dimension (3D) Alternative Direction Implicit Finite-Difference Time-Domain (Leapfrog ADI-FDTD) method for the simulation of helicopter time-domain electromagnetic (HTEM) detection. This method is different from the traditional explicit FDTD, or ADI-FDTD. Comparing with the explicit FDTD, leapfrog ADI-FDTD algorithm is no longer limited by Courant-Friedrichs-Lewy(CFL) condition. Thus, the time step is longer. Comparing with the ADI-FDTD, we reduce the equations from 12 to 6 and .the Leapfrog ADI-FDTD method will be easier for the general simulation. First, we determine initial conditions which are adopted from the existing method presented by Wang and Tripp(1993). Second, we derive Maxwell equation using a new finite difference equation by Leapfrog ADI-FDTD method. The purpose is to eliminate sub-time step and retain unconditional stability characteristics. Third, we add the convolution perfectly matched layer (CPML) absorbing boundary condition into the leapfrog ADI-FDTD simulation and study the absorbing effect of different parameters. Different absorbing parameters will affect the absorbing ability. We find the suitable parameters after many numerical experiments. Fourth, We compare the response with the 1-Dnumerical result method for a homogeneous half-space to verify the correctness of our algorithm.When the model contains 107*107*53 grid points, the conductivity is 0.05S/m. The results show that Leapfrog ADI-FDTD need less simulation time and computer storage space, compared with ADI-FDTD. The calculation speed decreases nearly four times, memory occupation decreases about 32.53%. Thus, this algorithm is more efficient than the conventional ADI-FDTD method for HTEM detection, and is more precise than that of explicit FDTD in the late time.

DIA1R is an X-linked gene related to Deleted In Autism-1.

PubMed

Aziz, Azhari; Harrop, Sean P; Bishop, Naomi E

2011-01-17

Autism spectrum disorders (ASDS) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62% similar overall (28% identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation.

Does pet arrival trigger prosocial behaviors in individuals with autism?

PubMed

Grandgeorge, Marine; Tordjman, Sylvie; Lazartigues, Alain; Lemonnier, Eric; Deleau, Michel; Hausberger, Martine

2012-01-01

Alteration of social interactions especially prosocial behaviors--an important aspect of development--is one of the characteristics of autistic disorders. Numerous strategies or therapies are used to improve communication skills or at least to reduce social impairments. Animal-assisted therapies are used widely but their relevant benefits have never been scientifically evaluated. In the present study, we evaluated the association between the presence or the arrival of pets in families with an individual with autism and the changes in his or her prosocial behaviors. Of 260 individuals with autism--on the basis of presence or absence of pets--two groups of 12 individuals and two groups of 8 individuals were assigned to: study 1 (pet arrival after age of 5 versus no pet) and study 2 (pet versus no pet), respectively. Evaluation of social impairment was assessed at two time periods using the 36-items ADI-R algorithm and a parental questionnaire about their child-pet relationships. The results showed that 2 of the 36 items changed positively between the age of 4 to 5 (t(0)) and time of assessment (t(1)) in the pet arrival group (study 1): "offering to share" and "offering comfort". Interestingly, these two items reflect prosocial behaviors. There seemed to be no significant changes in any item for the three other groups. The interactions between individuals with autism and their pets were more--qualitatively and quantitatively--reported in the situation of pet arrival than pet presence since birth. These findings open further lines of research on the impact of pet's presence or arrival in families with an individual with autism. Given the potential ability of individuals with autism to develop prosocial behaviors, related studies are needed to better understand the mechanisms involved in the development of such child-pet relationship.

Association of the Oxytocin Receptor Gene (OXTR) in Caucasian Children and Adolescents with Autism

PubMed Central

Jacob, Suma; Brune, Camille W.; Carter, C. S.; Leventhal, Bennett L.; Lord, Catherine; Cook, Edwin H.

2009-01-01

Background The oxytocin receptor gene (OXTR) has been studied in autism because of the role of oxytocin (OT) in social cognition. Linkage has also been demonstrated to the region of OXTR in a large sample. Two single nucleotide polymorphisms (SNPs) and a haplotype constructed from them in OXTR have been associated with autism in the Chinese Han population. We tested whether these associations replicated in a Caucasian sample with strictly defined autistic disorder. Methods We genotyped the two previously associated SNPs (rs2254298, rs53576) in 57 Caucasian autism trios. Probands met clinical, ADI-R, and ADOS criteria for autistic disorder. Results Significant association was detected at rs2254298 (p = 0.03) but not rs53576. For rs2254298, overtransmission of the G allele to probands with autistic disorder was found which contrasts with the overtransmission of A previously reported in the Chinese Han sample. In both samples, G was more frequent than A. However, in our Caucasian autism trios and the CEU Caucasian HapMap samples the frequency of A was less than that reported in the Chinese Han and Chinese in Bejing HapMap samples. The haplotype test of association did not reveal excess transmission from parents to affected offspring. Conclusions These findings provide support for association of OXTR with autism in a Caucasian population. Overtransmission of different alleles in different populations may be due to a different pattern of linkage disequilibrium between the marker rs2254298 and an as yet undetermined susceptibility variant in OXTR. PMID:17383819

Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP

PubMed Central

Silverman, Jill L; Tolu, Seda S; Barkan, Charlotte L; Crawley, Jacqueline N

2010-01-01

Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviors with restricted interests. BTBR T+tf/J (BTBR) is an inbred mouse strain that shows robust behavioral phenotypes with analogies to all three of the diagnostic symptoms of autism, including well-replicated deficits in reciprocal social interactions and social approach, unusual patterns of ultrasonic vocalization, and high levels of repetitive self-grooming. These phenotypes offer straightforward behavioral assays for translational investigations of pharmacological compounds. Two suggested treatments for autism were evaluated in the BTBR mouse model. Methyl-6-phenylethynyl-pyridine (MPEP), an antagonist of the mGluR5 metabotropic glutamate receptor, blocks aberrant phenotypes in the Fmr1 mouse model of Fragile X, a comorbid neurodevelopmental disorder with autistic features. Risperidone has been approved by the United States Food and Drug Administration for the treatment of irritability, tantrums, and self-injurious behavior in autistic individuals. We evaluated the actions of MPEP and risperidone on two BTBR phenotypes, low sociability and high repetitive self-grooming. Open field activity served as an independent control for non-social exploratory activity and motor functions. C57BL/6J (B6), an inbred strain with high sociability and low self-grooming, served as the strain control. MPEP significantly reduced repetitive self-grooming in BTBR, at doses that had no sedating effects on open field activity. Risperidone reduced repetitive self-grooming in BTBR, but only at doses that induced sedation in both strains. No overall improvements in sociability were detected in BTBR after treatment with either MPEP or risperidone. Our findings suggest that antagonists of mGluR5 receptors may have selective therapeutic efficacy in treating repetitive behaviors in autism. PMID:20032969

Rapid-Response Parenting Intervention in Diagnostic Centers as a Patient-Centered Innovation for Autism Spectrum Disorders

ERIC Educational Resources Information Center

McMillin, Stephen Edward; Bultas, Margaret W.; Wilmott, Jennifer; Grafeman, Sarah; Zand, Debra H.

2015-01-01

Parents of children newly diagnosed with autism spectrum disorders are a high-need population for whom skills-based parenting interventions likely help. Diagnostic centers are compelling locations to deliver parenting interventions because families are served in an accessible location and at a time they receive overwhelming treatment…

Views on the Diagnostic Labels of Autism and Asperger's Disorder and the Proposed Changes in the DSM

ERIC Educational Resources Information Center

Kite, Donna M.; Gullifer, Judith; Tyson, Graham A.

2013-01-01

With the approaching release of the DSM V in 2013, there has been much debate about the proposal to remove the diagnostic label of Asperger's disorder from the new DSM. This study explored how health and education professionals perceive the conditions of autism and Asperger's disorder and their views on the proposed diagnostic changes.…

Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links.

PubMed

Sokol, D K; Maloney, B; Long, J M; Ray, B; Lahiri, D K

2011-04-12

The present review highlights an association between autism, Alzheimer disease (AD), and fragile X syndrome (FXS). We propose a conceptual framework involving the amyloid-β peptide (Aβ), Aβ precursor protein (APP), and fragile X mental retardation protein (FMRP) based on experimental evidence. The anabolic (growth-promoting) effect of the secreted α form of the amyloid-β precursor protein (sAPPα) may contribute to the state of brain overgrowth implicated in autism and FXS. Our previous report demonstrated that higher plasma sAPPα levels associate with more severe symptoms of autism, including aggression. This molecular effect could contribute to intellectual disability due to repression of cell-cell adhesion, promotion of dense, long, thin dendritic spines, and the potential for disorganized brain structure as a result of disrupted neurogenesis and migration. At the molecular level, APP and FMRP are linked via the metabotropic glutamate receptor 5 (mGluR5). Specifically, mGluR5 activation releases FMRP repression of APP mRNA translation and stimulates sAPP secretion. The relatively lower sAPPα level in AD may contribute to AD symptoms that significantly contrast with those of FXS and autism. Low sAPPα and production of insoluble Aβ would favor a degenerative process, with the brain atrophy seen in AD. Treatment with mGluR antagonists may help repress APP mRNA translation and reduce secretion of sAPP in FXS and perhaps autism.

Austempered ductile iron (ADI) for railroad wheels : final report.

DOT National Transportation Integrated Search

2017-01-31

The purpose of this project is to investigate the potential for austempered ductile iron (ADI) to be used as an alternative material for the production of rail wheels, which are currently cast or forged steel which is commonly heat treated. ADI has s...

Effect of austempering temperature on cavitation behaviour of unalloyed ADI material

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dojcinovic, Marina; Eric, Olivera; Rajnovic, Dragan

2013-08-15

This paper provides an in-depth study and description of cavitation damage and microstructural changes in two types of unalloyed austempered ductile iron (ADI). ADI materials used were austempered at 300 and 400 °C having ausferrite microstructure with 16 and 31.4% of retained austenite, respectively. Metallographic examination was carried out to study the morphology of their cavitation-damaged surfaces. Cavitation damage was initiated at graphite nodules as well as in the interface between a graphite nodule and an ausferrite matrix. Furthermore, microcracking and ferrite/retained austenite morphology were proved to be of great importance for cavitation resistance. Mass loss rate revealed that ADImore » austempered at 400 °C has a higher cavitation resistance in water than ADI austempered at 300 °C. A higher amount of retained austenite in ADI austempered at 400 °C played an important role in increasing cavitation resistance. The good cavitation behaviour of ADI austempered at 400 °C was due to the matrix hardening by stress assisted phase transformation of retained austenite into martensite (SATRAM) phenomenon, as shown by X-ray diffraction analysis. - Highlights: • Cavitation rate of two ADI materials was tested. • ADI material with a lower hardness has had a lower cavitation rate. • The main reason is microstructural transformations during cavitation. • SATRAM phenomenon increases cavitation resistance.« less

The Relationship between Waiting Times and "Adherence" to the Scottish Intercollegiate Guidelines Network 98 Guideline in Autism Spectrum Disorder Diagnostic Services in Scotland

ERIC Educational Resources Information Center

McKenzie, Karen; Forsyth, Kirsty; O'Hare, Anne; McClure, Iain; Rutherford, Marion; Murray, Aja; Irvine, Linda

2016-01-01

The aim of this study was to explore the extent to which the Scottish Intercollegiate Guidelines Network 98 guidelines on the assessment and diagnosis of autism spectrum disorder were adhered to in child autism spectrum disorder diagnostic services in Scotland and whether there was a significant relationship between routine practice which more…

[Autism spectrum disorder: Etiological, diagnostic and therapeutic aspects].

PubMed

Reynoso, César; Rangel, María José; Melgar, Virgilio

2017-01-01

Autism spectrum disorder (ASD) was described for the first time in 1943 by Leo Kanner, and since 2004, 18 490 articles in the subject have been published, which in turn have been cited 48 416 times.1 Almost half of these publications come from the United States of America and the vast maority of the efforts to improve the quality of life of these patients have taken place in developed countries. This disorder consists of an inability to acquire social and emotional skills during early development that progressively results in variable degrees of social adaptation discapacity. The etiology is multifactorial and includes functional and structural neurological abnormalities, some of them with putative genetic and/or epigenetic origin. There is an alarming lack of knowledge in the subject among health care professionals. The purpose of this systematic review is to summarize the most relevant historical, diagnostic and therapeutic aspects of ASD.

Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder Running Head: DSM-5 ASD

PubMed Central

McPartland, James C.; Reichow, Brian; Volkmar, Fred R.

2012-01-01

Objective This study evaluated the potential impact of proposed DSM-5 diagnostic criteria for autism spectrum disorder (ASD). Method This study focused on a sample of 977 participants evaluated during the DSM-IV field trial; 657 carried a clinical diagnosis of an ASD, and 276 were diagnosed with a non-autistic disorder. Sensitivity and specificity for proposed DSM-5 diagnostic criteria were evaluated using field trial symptom checklists as follows: (a) individual field trial checklist items (e.g., nonverbal communication), (b) checklist items grouped together as described by a single DSM-5 symptom (e.g., nonverbal and verbal communication), (c) individual DSM-5 criterion (e.g., social-communicative impairment), and (d) overall diagnostic criteria. Results When applying proposed DSM-5 diagnostic criteria for ASD, 60.6% (95% confidence interval: 57–64%) of cases with a clinical diagnosis of an ASD met revised DSM-5 diagnostic criteria for ASD. Overall specificity was high, with 94.9% (95% confidence interval: 92–97%) of individuals accurately excluded from the spectrum. Sensitivity varied by diagnostic subgroup (Autistic Disorder =.76; Asperger’s Disorder = .25; PDD-NOS = .28) and cognitive ability (IQ < 70 = .70; IQ ≥ 70 = .46). Conclusions Proposed DSM-5 criteria substantially alter the composition of the autism spectrum. Revised criteria improve specificity, but exclude a substantial portion of cognitively able individuals and those with ASDs other than Autistic Disorder. A more stringent diagnostic rubric holds significant public health ramifications regarding service eligibility and compatibility of historical and future research. PMID:22449643

Autism Spectrum Conditions in Individuals with Mobius Sequence, CHARGE Syndrome and Oculo-Auriculo-Vertebral Spectrum: Diagnostic Aspects

ERIC Educational Resources Information Center

Johansson, Maria; Gillberg, Christopher; Rastam, Maria

2010-01-01

As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mobius sequence (Mobius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as…

[The profile of WISC-R scores in children with high-functioning autism].

PubMed

Zielinska, Monika; Sterczynski, Radoslaw; Baginska, Aneta

2014-01-01

The aim of the study was to define the intellectual profile of Polish children suffering from autism. Our study was based on the results of previous research, mostly conducted in English-speaking countries. Although these earlier studies documented the intellectual profile of an autistic child, they also identified some discrepancies. Therefore, we decided to complement the discussion on autism with our data on intellectual functioning of autistic Polish children examined with a translated version of the intelligence test. The study followed a matching design. From among 191 children with autism and 1 400 without this diagnosis, we selected 34 pairs based on gender and age, and not differing by more than 10 points in terms of intelligence quotient. The intellectual profile of the studied children was determined with the WISC-R scale. As expected, the intellectual profile of children with autism proved more variable than that of healthy controls. Children with autism scored lower on "Comprehension" scale and (at a threshold of statistical significance) on "Object assembly" scale, and achieved higher results on "Information" and "Block design" scales. The results of our study confirmed the most typical observations from previous research conducted among an English-speaking population of autistic children. Polish autistic children did not differ significantly in terms of their quotients of verbal and non-verbal intelligence. However, the intellectual profile of autistic children showed higher variance compared to normally developing controls. Children with autism were more likely to score the lowest in the "Comprehension" subtest and the highest in the "Block design" subtest.

The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm and Standardized Severity Scores

PubMed Central

Hus, Vanessa; Lord, Catherine

2014-01-01

The Autism Diagnostic Observation Schedule, 2nd Edition includes revised diagnostic algorithms and standardized severity scores for modules used to assess children and adolescents of varying language abilities. Comparable revisions have not yet been applied to the Module 4, used with verbally fluent adults. The current study revises the Module 4 algorithm and calibrates raw overall and domain totals to provide metrics of ASD symptom severity. Sensitivity and specificity of the revised Module 4 algorithm exceeded 80% in the overall sample. Module 4 calibrated severity scores provide quantitative estimates of ASD symptom severity that are relatively independent of participant characteristics. These efforts increase comparability of ADOS scores across modules and should facilitate efforts to increase understanding of adults with ASD. PMID:24590409

Language and Speech in Autism.

PubMed

Gernsbacher, Morton Ann; Morson, Emily M; Grace, Elizabeth J

2016-01-01

Autism is a developmental disability characterized by atypical social interaction, interests or body movements, and communication. Our review examines the empirical status of three communication phenomena believed to be unique to autism: pronoun reversal (using the pronoun you when the pronoun I is intended, and vice versa), echolalia (repeating what someone has said), and a reduced or even reversed production-comprehension lag (a reduction or reversal of the well-established finding that speakers produce less sophisticated language than they can comprehend). Each of these three phenomena has been claimed to be unique to autism; therefore, each has been proposed to be diagnostic of autism, and each has been interpreted in autism-centric ways (psychoanalytic interpretations of pronoun reversal, behaviorist interpretations of echolalia, and clinical lore about the production-comprehension lag). However, as our review demonstrates, none of these three phenomena is in fact unique to autism; none can or should serve as diagnostic of autism, and all call into question unwarranted assumptions about autistic persons and their language development and use.

Language and Speech in Autism

PubMed Central

Gernsbacher, Morton Ann; Morson, Emily M.; Grace, Elizabeth J.

2017-01-01

Autism is a developmental disability characterized by atypical social interaction, interests or body movements, and communication. Our review examines the empirical status of three communication phenomena believed to be unique to autism: pronoun reversal (using the pronoun you when the pronoun I is intended, and vice versa), echolalia (repeating what someone has said), and a reduced or even reversed production-comprehension lag (a reduction or reversal of the well-established finding that speakers produce less sophisticated language than they can comprehend). Each of these three phenomena has been claimed to be unique to autism; therefore, each has been proposed to be diagnostic of autism, and each has been interpreted in autism-centric ways (psychoanalytic interpretations of pronoun reversal, behaviorist interpretations of echolalia, and clinical lore about the production-comprehension lag). However, as our review demonstrates, none of these three phenomena is in fact unique to autism; none can or should serve as diagnostic of autism, and all call into question unwarranted assumptions about autistic persons and their language development and use. PMID:28127576

Emotion Perception in Asperger's Syndrome and High-Functioning Autism: The Importance of Diagnostic Criteria and Cue Intensity

ERIC Educational Resources Information Center

Mazefsky, Carla A.; Oswald, Donald P.

2007-01-01

This study compared emotion perception accuracy between children with Asperger's syndrome (AS) and high-functioning autism (HFA). Thirty children were diagnosed with AS or HFA based on empirically supported diagnostic criteria and administered an emotion perception test consisting of facial expressions and tone of voice cues that varied in…

Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study

ERIC Educational Resources Information Center

Miller, Judith S.; Bilder, Deborah; Farley, Megan; Coon, Hilary; Pinborough-Zimmerman, Judith; Jenson, William; Rice, Catherine E.; Fombonne, Eric; Pingree, Carmen B.; Ritvo, Edward; Ritvo, Riva-Ariella; McMahon, William M.

2013-01-01

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59%) of the 108 originally "Diagnosed Not Autistic" met the current ASD case definition.…

The influence of prior reputation and reciprocity on dynamic trust-building in adults with and without autism spectrum disorder.

PubMed

Maurer, Cornelius; Chambon, Valerian; Bourgeois-Gironde, Sacha; Leboyer, Marion; Zalla, Tiziana

2018-03-01

The present study was designed to investigate the effects of reputational priors and direct reciprocity on the dynamics of trust building in adults with (N = 17) and without (N = 25) autism spectrum disorder (ASD) using a multi-round Trust Game (MTG). On each round, participants, who played as investors, were required to maximize their benefits by updating their prior expectations (the partner's positive or negative reputation), based on the partner's directed reciprocity, and adjusting their own investment decisions accordingly. Results showed that reputational priors strongly oriented the initial decision to trust, operationalized as the amount of investment the investor shares with the counterpart. However, while typically developed participants were mainly affected by the direct reciprocity, and rapidly adopted the optimal Tit-for-Tat strategy, participants with ASD continued to rely on reputational priors throughout the game, even when experience of the counterpart's actual behavior contradicted their prior-based expectations. In participants with ASD, the effect of the reputational prior never disappeared, and affected judgments of trustworthiness and reciprocity of the partner even after completion of the game. Moreover, the weight of prior reputation positively correlated with the severity of the ASD participant's social impairments while the reciprocity score negatively correlated with the severity of repetitive and stereotyped behaviors, as measured by the Autism Diagnostic Interview-Revised (ADI-R). In line with Bayesian theoretical accounts, the present findings indicate that individuals with ASD have difficulties encoding incoming social information and using it to revise and flexibly update prior social expectations, and that this deficit might severely hinder social learning and everyday life interactions. Copyright © 2017 Elsevier B.V. All rights reserved.

The visual rooting reflex in individuals with autism spectrum disorders and co-occurring intellectual disability.

PubMed

de Bildt, Annelies; Mulder, Erik J; Van Lang, Natasja D J; de With, S A Jytte; Minderaa, Ruud B; Stahl, Sherin S; Anderson, George M

2012-02-01

The rooting reflex has long been studied by neurologists and developmentalists and is defined as an orientation toward tactile stimulation in the perioral region or visual stimulation near the face. Nearly, all previous reports of the visual rooting reflex (VRR) concern its presence in adults with neurological dysfunction. Previously, the VRR was reported to be present in a majority of individuals with autism and absent in control subjects. In the present larger study, we examined the presence of the VRR in 155 individuals with ASD and co-occurring Intellectual Disability (ASD + ID: autism, N = 60; Pervasive Developmental Disorder-Not Otherwise Specified (PDD_NOS), N = 95) and in a contrast group of 65 individuals with ID only. The VRR was present significantly more often in the ASD + ID (43.9%) group than in the ID-only group (24.6%; χ(1)(2)= 7.19; P = 0.007). Individuals with autism displayed a VRR more often (55.0%) than individuals with PDD-NOS (36.8%; χ(1)(2)= 4.92; P = 0.026) and individuals with ID only (24.6%; χ(1)(2)= 12.09; P = 0.001). A positive VRR was associated with lower IQ and adaptive functioning; in the ASD + ID group, ADI-R/ADOS domain scores were significantly higher in the VRR-positive subgroup. The results replicate and extend the finding of an increased occurrence of the VRR in autism. Although some association with IQ was observed, the VRR occurred substantially more often in the autism group compared with an intellectually disabled group, indicating some degree of specificity. Additional studies of infants and children with typical development, ASD and ID are needed to determine the utility of the VRR in ASD risk assessment and to elucidate possible specific behavioral associations. Copyright © 2011, International Society for Autism Research, Wiley-Liss, Inc.

Neural synchrony examined with magnetoencephalography (MEG) during eye gaze processing in autism spectrum disorders: preliminary findings

PubMed Central

2014-01-01

Background Gaze processing deficits are a seminal, early, and enduring behavioral deficit in autism spectrum disorder (ASD); however, a comprehensive characterization of the neural processes mediating abnormal gaze processing in ASD has yet to be conducted. Methods This study investigated whole-brain patterns of neural synchrony during passive viewing of direct and averted eye gaze in ASD adolescents and young adults (M Age  = 16.6) compared to neurotypicals (NT) (M Age  = 17.5) while undergoing magnetoencephalography. Coherence between each pair of 54 brain regions within each of three frequency bands (low frequency (0 to 15 Hz), beta (15 to 30 Hz), and low gamma (30 to 45 Hz)) was calculated. Results Significantly higher coherence and synchronization in posterior brain regions (temporo-parietal-occipital) across all frequencies was evident in ASD, particularly within the low 0 to 15 Hz frequency range. Higher coherence in fronto-temporo-parietal regions was noted in NT. A significantly higher number of low frequency cross-hemispheric synchronous connections and a near absence of right intra-hemispheric coherence in the beta frequency band were noted in ASD. Significantly higher low frequency coherent activity in bilateral temporo-parieto-occipital cortical regions and higher gamma band coherence in right temporo-parieto-occipital brain regions during averted gaze was related to more severe symptomology as reported on the Autism Diagnostic Interview-Revised (ADI-R). Conclusions The preliminary results suggest a pattern of aberrant connectivity that includes higher low frequency synchronization in posterior cortical regions, lack of long-range right hemispheric beta and gamma coherence, and decreased coherence in fronto-temporo-parietal regions necessary for orienting to shifts in eye gaze in ASD; a critical behavior essential for social communication. PMID:24976870

Brief Report: An Exploratory Study Comparing Diagnostic Outcomes for Autism Spectrum Disorders under DSM-IV-TR with the Proposed DSM-5 Revision

ERIC Educational Resources Information Center

Gibbs, Vicki; Aldridge, Fiona; Chandler, Felicity; Witzlsperger, Ellen; Smith, Karen

2012-01-01

The proposed revision for Autism spectrum disorders (ASDs) in the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) represents a shift from the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition, Text Revision (DSM-IV-TR). As the proposed DSM-5 criteria require a higher minimum number of symptoms to be…

GapMap: Enabling Comprehensive Autism Resource Epidemiology

PubMed Central

Albert, Nikhila; Schwartz, Jessey; Du, Michael

2017-01-01

Background For individuals with autism spectrum disorder (ASD), finding resources can be a lengthy and difficult process. The difficulty in obtaining global, fine-grained autism epidemiological data hinders researchers from quickly and efficiently studying large-scale correlations among ASD, environmental factors, and geographical and cultural factors. Objective The objective of this study was to define resource load and resource availability for families affected by autism and subsequently create a platform to enable a more accurate representation of prevalence rates and resource epidemiology. Methods We created a mobile application, GapMap, to collect locational, diagnostic, and resource use information from individuals with autism to compute accurate prevalence rates and better understand autism resource epidemiology. GapMap is hosted on AWS S3, running on a React and Redux front-end framework. The backend framework is comprised of an AWS API Gateway and Lambda Function setup, with secure and scalable end points for retrieving prevalence and resource data, and for submitting participant data. Measures of autism resource scarcity, including resource load, resource availability, and resource gaps were defined and preliminarily computed using simulated or scraped data. Results The average distance from an individual in the United States to the nearest diagnostic center is approximately 182 km (50 miles), with a standard deviation of 235 km (146 miles). The average distance from an individual with ASD to the nearest diagnostic center, however, is only 32 km (20 miles), suggesting that individuals who live closer to diagnostic services are more likely to be diagnosed. Conclusions This study confirmed that individuals closer to diagnostic services are more likely to be diagnosed and proposes GapMap, a means to measure and enable the alleviation of increasingly overburdened diagnostic centers and resource-poor areas where parents are unable to diagnose their children

Sex differences in the reciprocal behaviour of children with autism.

PubMed

Backer van Ommeren, Tineke; Koot, Hans M; Scheeren, Anke M; Begeer, Sander

2017-08-01

Differences in the social limitations of girls compared to boys on the autism spectrum are still poorly understood. Impaired social-emotional reciprocity is a core diagnostic criterion for an autism spectrum disorder. This study compares sex differences in reciprocal behaviour in children with autism spectrum disorder (32 girls, 114 boys) and in typically developing children (24 girls, 55 boys). While children with autism spectrum disorder showed clear limitations in reciprocal behaviour compared to typically developing children, sex differences were found only in the autism spectrum disorder group: girls with autism spectrum disorder had higher reciprocity scores than boys with autism spectrum disorder. However, compared to typically developing girls, girls with autism spectrum disorder showed subtle differences in reciprocal behaviour. The sex-specific response patterns in autism spectrum disorder can inform and improve the diagnostic assessment of autism in females.

Assessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult)

ERIC Educational Resources Information Center

Mandy, William; Clarke, Kiri; McKenner, Michele; Strydom, Andre; Crabtree, Jason; Lai, Meng-Chuan; Allison, Carrie; Baron-Cohen, Simon; Skuse, David

2018-01-01

We developed a brief, informant-report interview for assessing autism spectrum conditions (ASC) in adults, called the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult); and completed a preliminary evaluation. Informant reports were collected for participants with ASC (n = 39), a non-clinical comparison group (n = 29)…

Performance on Cambridge Neuropsychological Test Automated Battery subtests sensitive to frontal lobe function in people with autistic disorder: evidence from the Collaborative Programs of Excellence in Autism network.

PubMed

Ozonoff, Sally; Cook, Ian; Coon, Hilary; Dawson, Geraldine; Joseph, Robert M; Klin, Ami; McMahon, William M; Minshew, Nancy; Munson, Jeffrey A; Pennington, Bruce F; Rogers, Sally J; Spence, M Anne; Tager-Flusberg, Helen; Volkmar, Fred R; Wrathall, Debora

2004-04-01

Recent structural and functional imaging work, as well as neuropathology and neuropsychology studies, provide strong empirical support for the involvement of frontal cortex in autism. The Cambridge Neuropsychological Test Automated Battery (CANTAB) is a computer-administered set of neuropsychological tests developed to examine specific components of cognition. Previous studies document the role of frontal cortex in performance of two CANTAB subtests: the Stockings of Cambridge, a planning task, and the Intradimensional/Extradimensional Shift task, a measure of cognitive set shifting. To examine the integrity of frontal functions, these subtests were administered to 79 participants with autism and 70 typical controls recruited from seven universities who are part of the Collaborative Programs of Excellence in Autism network. The two groups were matched on age, sex, and full-scale IQ. Significant group differences were found in performance on both subtests, with the autism group showing deficits in planning efficiency and extradimensional shifting relative to controls. Deficits were found in both lower- and higher-IQ individuals with autism across the age range of 6 to 47 years. Impairment on the CANTAB executive function subtests did not predict autism severity or specific autism symptoms (as measured by the ADI-R and ADOS), but it was correlated with adaptive behavior. If these CANTAB subtests do indeed measure prefrontal function, as suggested by previous research with animals and lesion patients, this adds to the accumulating evidence of frontal involvement in autism and indicates that this brain region should remain an active area of investigation.

A Review of Assessment Tools for Diagnosis of Autism Spectrum Disorders: Implications for School Practice

ERIC Educational Resources Information Center

Klose, Laurie McGarry; Plotts, Cynthia; Kozeneski, Nicole; Skinner-Foster, Jacqueline

2012-01-01

This paper provides a review of widely used measures for assessing Autism Spectrum Disorders, including the "Autism Diagnostic Interview-Revised," "Autism Diagnostic Observation Schedule," "Psychoeducational Profile-Third Edition," "Gilliam Autism Rating Scale-Second Edition," and "Childhood Autism…

Statefinder diagnostic and constraints on the Palatini f(R) gravity theories

NASA Astrophysics Data System (ADS)

Cao, Shu-Lei; Li, Song; Yu, Hao-Ran; Zhang, Tong-Jie

2018-03-01

We focus on a series of f(R) gravity theories in Palatini formalism to investigate the probabilities of producing late-time acceleration for the flat Friedmann-Robertson-Walker (FRW) universe. We apply a statefinder diagnostic to these cosmological models for chosen series of parameters to see if they can be distinguished from one another. The diagnostic involves the statefinder pair {r, s}, where r is derived from the scale factor a and its higher derivatives with respect to the cosmic time t, and s is expressed by r and the deceleration parameter q. In conclusion, we find that although two types of f(R) theories: (i) f(R) = R + αRm – βR ‑n and (ii) f(R) = R + α ln R – β can lead to late-time acceleration, their evolutionary trajectories in the r – s and r – q planes reveal different evolutionary properties, which certainly justify the merits of the statefinder diagnostic. Additionally, we utilize the observational Hubble parameter data (OHD) to constrain these models of f(R) gravity. As a result, except for m = n = 1/2 in case (i), α = 0 in case (i) and case (ii) allow the ΛCDM model to exist in the 1σ confidence region. After applying the statefinder diagnostic to the best-fit models, we find that all the best-fit models are capable of going through the deceleration/acceleration transition stage with a late-time acceleration epoch, and all these models turn to the de Sitter point ({r, s} = {1, 0}) in the future. Also, the evolutionary differences between these models are distinct, especially in the r – s plane, which makes the statefinder diagnostic more reliable in discriminating cosmological models.

Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study

PubMed Central

Miller, Judith S.; Farley, Megan; Coon, Hilary; Pinborough-Zimmerman, Judith; Jenson, William; Rice, Catherine E.; Fombonne, Eric; Pingree, Carmen B.; Ritvo, Edward; Ritvo, Riva-Ariella; McMahon, William M.

2015-01-01

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally “Diagnosed Not Autistic” met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today’s diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. PMID:22696195

Reduction of image-based ADI-to-AEI overlay inconsistency with improved algorithm

NASA Astrophysics Data System (ADS)

Chen, Yen-Liang; Lin, Shu-Hong; Chen, Kai-Hsiung; Ke, Chih-Ming; Gau, Tsai-Sheng

2013-04-01

In image-based overlay (IBO) measurement, the measurement quality of various measurement spectra can be judged by quality indicators and also the ADI-to-AEI similarity to determine the optimum light spectrum. However we found some IBO measured results showing erroneous indication of wafer expansion from the difference between the ADI and the AEI maps, even after their measurement spectra were optimized. To reduce this inconsistency, an improved image calculation algorithm is proposed in this paper. Different gray levels composed of inner- and outer-box contours are extracted to calculate their ADI overlay errors. The symmetry of intensity distribution at the thresholds dictated by a range of gray levels is used to determine the particular gray level that can minimize the ADI-to-AEI overlay inconsistency. After this improvement, the ADI is more similar to AEI with less expansion difference. The same wafer was also checked by the diffraction-based overlay (DBO) tool to verify that there is no physical wafer expansion. When there is actual wafer expansion induced by large internal stress, both the IBO and the DBO measurements indicate similar expansion results. The scanning white-light interference microscope was used to check the variation of wafer warpage during the ADI and AEI stages. It predicts a similar trend with the overlay difference map, confirming the internal stress.

Negotiating knowledge: parents' experience of the neuropsychiatric diagnostic process for children with autism.

PubMed

Carlsson, Emilia; Miniscalco, Carmela; Kadesjö, Björn; Laakso, Katja

2016-05-01

Parents often recognize problems in their child's development earlier than health professionals do and there is new emphasis on the importance of involving parents in the diagnostic process. In Gothenburg, Sweden, over 100 children were identified as having an autism spectrum disorder (ASD) in 2009-11 through a general population language and autism screening of 2.5 year olds at the city's child healthcare centres. To increase understanding of parents' lived experience of the neuropsychiatric diagnostic process, i.e. the period from the initial screening at age 2.5 years to the 2-year follow-up of the ASD diagnosis. A qualitative design, a phenomenological hermeneutic method, was used. Interviews were conducted with parents of 11 children who were diagnosed with ASD 2 years prior. The parents were interviewed about their experiences of the neuropsychiatric diagnostic process, i.e. the time before the screening, the time during the neuropsychiatric multidisciplinary evaluation and the time after diagnosis. The interviews lasted for 45-130 min, and an interview guide with set questions was used. Most of the interviews were conducted at the parents' homes. The essence that emerged from the data was negotiating knowledge, and the three themes capturing the parents' experiences of going through the process of having their child diagnosed with ASD were seeking knowledge, trusting and challenging experts, and empowered but alone. The parents expected intervention to start directly after diagnosis but felt they had to fight to obtain the resources their child needed. After the process, they described that they felt empowered but still alone, i.e. although they received useful and important information about their child, they were left to manage the situation by themselves. As for clinical implications, the study points to the necessity of developing routines to support the parents during and after the diagnostic process. Recommended measures include developing a checklist

Sensory perception in autism.

PubMed

Robertson, Caroline E; Baron-Cohen, Simon

2017-11-01

Autism is a complex neurodevelopmental condition, and little is known about its neurobiology. Much of autism research has focused on the social, communication and cognitive difficulties associated with the condition. However, the recent revision of the diagnostic criteria for autism has brought another key domain of autistic experience into focus: sensory processing. Here, we review the properties of sensory processing in autism and discuss recent computational and neurobiological insights arising from attention to these behaviours. We argue that sensory traits have important implications for the development of animal and computational models of the condition. Finally, we consider how difficulties in sensory processing may relate to the other domains of behaviour that characterize autism.

Can autism be diagnosed accurately in children under 3 years?

PubMed

Stone, W L; Lee, E B; Ashford, L; Brissie, J; Hepburn, S L; Coonrod, E E; Weiss, B H

1999-02-01

This study investigated the reliability and stability of an autism diagnosis in children under 3 years of age who received independent diagnostic evaluations from two clinicians during two consecutive yearly evaluations. Strong evidence for the reliability and stability of the diagnosis was obtained. Diagnostic agreement between clinicians was higher for the broader discrimination of autism spectrum vs. no autism spectrum than for the more specific discrimination of autism vs. PDD-NOS. The diagnosis of autism at age 2 was more stable than the diagnosis of PDD-NOS at the same age. Social deficits and delays in spoken language were the most prominent DSM-IV characteristics evidenced by very young children with autism.

Title: Accelerator Test of an Angle Detecting Inclined Sensor (ADIS) Prototype with Beams of 48Ca and Fragments

NASA Astrophysics Data System (ADS)

Connell, J. J.; Lopate, C.; McKibben, R. B.; Enman, A.

2006-12-01

The measurement and identification of high energy ions (> few MeV/n) from events originating on the Sun is of direct interest to the Living With a Star Program. These ions are a major source of Single Event Effects (SEE) in space-based electronics. Measurements of these ions also help in understanding phenomena such as Solar particle events and coronal mass ejections. These disturbances can directly affect the Earth and the near-Earth space environment, and thus human technology. The resource constraints on spacecraft generally mean that instruments that measure cosmic rays and Solar energetic particles must have low mass (a few kg) and power (a few W), be robust and reliable yet highly capable. Such instruments should identify ionic species (at least by element, preferably by isotope) from protons through the iron group. The charge and mass resolution of heavy ion instrument in space depends upon determining ions' angles of incidence. The Angle Detecting Inclined Sensor (ADIS) system is a highly innovative and uniquely simple detector configuration used to determine the angle of incidence of heavy ions in space instruments. ADIS replaces complex position sensing detectors (PSDs) with a system of simple, reliable and robust Si detectors inclined at an angle to the instrument axis. In August 2004 we tested ADIS prototypes with a 48Ca beam at the National Superconducting Cyclotron Laboratory's (NSCL) Coupled Cyclotron Facility (CCF). We demonstrate that our prototype charged particle instrument design with an ADIS system has a charge resolution of better than 0.25 e. An ADIS based system is being incorporated into the Energetic Heavy Ion Sensor (EHIS), one of the instruments in the Space Environment In-Situ Suite (SEISS) on the next generation of Geostationary Operational Environmental Satellite (GOES-R) System. An ADIS based system was also selected for the High Energy Particle Sensor (HEPS), one of the instruments in the Space Environment Sensor Suite (SESS) on the

Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders.

PubMed

Bull, Gillian; Shattock, Paul; Whiteley, Paul; Anderson, Roz; Groundwater, Paul W; Lough, John W; Lees, George

2003-10-01

Autism is a heterogeneous pervasive developmental disorder with a poorly defined aetiology and pathophysiology. There are indications that the incidence of the disease is rising but still no definitive diagnostic biochemical markers have been isolated. Here we have addressed the hypothesis that urinary levels of trans -indolyl-3-acryloylglycine (IAG) are abnormal in patients diagnosed with autism spectrum disorders (ASD) compared to age-matched controls. Urine samples were collected on an opportunistic basis and analysed for IAG concentration (normalised against creatinine content to account for changes in urinary volume) using reversed phase HPLC with UV detection. Statistical analysis (Mann-Whitney tests) showed highly significant increases (p=0.0002) in the levels of urinary IAG in the ASD group (median 942 microV per mmol/L of creatinine [interquartile range 521-1729], n=22) compared to asymptomatic controls (331 [163-456], n=18). Detailed retrospective analysis showed that gender (boys 625 microV per mmol/L of creatinine [294-1133], n=29; girls 460 [282-1193], n=11: P=0.79) and age (control donor median 10 years [8-14], n=15; ASD median 9 years [7-11] n=22: P=0.54) were not significantly correlated with IAG levels in this non-blinded volunteer study. Our results strongly suggest that urinary titres of IAG may constitute an objective diagnostic indicator for ASD. Mechanisms for the involvement of IAG in ASD are discussed together with future strategies to address its specificity.

Brief Report: Concurrent Validity of the Leiter-R and KBIT-2 Scales of Nonverbal Intelligence for Children with Autism and Language Impairments

ERIC Educational Resources Information Center

Scattone, Dorothy; Raggio, Donald J.; May, Warren

2012-01-01

The concurrent validity of the KBIT-2 Nonverbal IQ and Leiter-R Brief IQ was evaluated for two groups of children: those with high functioning autism and those with language impairments without autism. Fifty-three children between the ages of 4 and 13 years of age participated in the study. The correlation between the scales was large (r = 0.62)…

Low-frequency repetitive transcranial magnetic stimulation (rTMS) affects event-related potential measures of novelty processing in autism.

PubMed

Sokhadze, Estate; Baruth, Joshua; Tasman, Allan; Mansoor, Mehreen; Ramaswamy, Rajesh; Sears, Lonnie; Mathai, Grace; El-Baz, Ayman; Casanova, Manuel F

2010-06-01

In our previous study on individuals with autism spectrum disorder (ASD) (Sokhadze et al., Appl Psychophysiol Biofeedback 34:37-51, 2009a) we reported abnormalities in the attention-orienting frontal event-related potentials (ERP) and the sustained-attention centro-parietal ERPs in a visual oddball experiment. These results suggest that individuals with autism over-process information needed for the successful differentiation of target and novel stimuli. In the present study we examine the effects of low-frequency, repetitive Transcranial Magnetic Stimulation (rTMS) on novelty processing as well as behavior and social functioning in 13 individuals with ASD. Our hypothesis was that low-frequency rTMS application to dorsolateral prefrontal cortex (DLFPC) would result in an alteration of the cortical excitatory/inhibitory balance through the activation of inhibitory GABAergic double bouquet interneurons. We expected to find post-TMS differences in amplitude and latency of early and late ERP components. The results of our current study validate the use of low-frequency rTMS as a modulatory tool that altered the disrupted ratio of cortical excitation to inhibition in autism. After rTMS the parieto-occipital P50 amplitude decreased to novel distracters but not to targets; also the amplitude and latency to targets increased for the frontal P50 while decreasing to non-target stimuli. Low-frequency rTMS minimized early cortical responses to irrelevant stimuli and increased responses to relevant stimuli. Improved selectivity in early cortical responses lead to better stimulus differentiation at later-stage responses as was made evident by our P3b and P3a component findings. These results indicate a significant change in early, middle-latency and late ERP components at the frontal, centro-parietal, and parieto-occipital regions of interest in response to target and distracter stimuli as a result of rTMS treatment. Overall, our preliminary results show that rTMS may prove to

GapMap: Enabling Comprehensive Autism Resource Epidemiology.

PubMed

Albert, Nikhila; Daniels, Jena; Schwartz, Jessey; Du, Michael; Wall, Dennis P

2017-05-04

For individuals with autism spectrum disorder (ASD), finding resources can be a lengthy and difficult process. The difficulty in obtaining global, fine-grained autism epidemiological data hinders researchers from quickly and efficiently studying large-scale correlations among ASD, environmental factors, and geographical and cultural factors. The objective of this study was to define resource load and resource availability for families affected by autism and subsequently create a platform to enable a more accurate representation of prevalence rates and resource epidemiology. We created a mobile application, GapMap, to collect locational, diagnostic, and resource use information from individuals with autism to compute accurate prevalence rates and better understand autism resource epidemiology. GapMap is hosted on AWS S3, running on a React and Redux front-end framework. The backend framework is comprised of an AWS API Gateway and Lambda Function setup, with secure and scalable end points for retrieving prevalence and resource data, and for submitting participant data. Measures of autism resource scarcity, including resource load, resource availability, and resource gaps were defined and preliminarily computed using simulated or scraped data. The average distance from an individual in the United States to the nearest diagnostic center is approximately 182 km (50 miles), with a standard deviation of 235 km (146 miles). The average distance from an individual with ASD to the nearest diagnostic center, however, is only 32 km (20 miles), suggesting that individuals who live closer to diagnostic services are more likely to be diagnosed. This study confirmed that individuals closer to diagnostic services are more likely to be diagnosed and proposes GapMap, a means to measure and enable the alleviation of increasingly overburdened diagnostic centers and resource-poor areas where parents are unable to diagnose their children as quickly and easily as needed. GapMap will

A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale

ERIC Educational Resources Information Center

Connolly, John J.; Glessner, Joseph T.; Hakonarson, Hakon

2013-01-01

Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association…

The Autism Diagnostic Observation Schedule, Module 4: Application of the Revised Algorithms in an Independent, Well-Defined, Dutch Sample (n = 93).

PubMed

de Bildt, Annelies; Sytema, Sjoerd; Meffert, Harma; Bastiaansen, Jojanneke A C J

2016-01-01

This study examined the discriminative ability of the revised Autism Diagnostic Observation Schedule module 4 algorithm (Hus and Lord in J Autism Dev Disord 44(8):1996-2012, 2014) in 93 Dutch males with Autism Spectrum Disorder (ASD), schizophrenia, psychopathy or controls. Discriminative ability of the revised algorithm ASD cut-off resembled the original algorithm ASD cut-off: highly specific for psychopathy and controls, lower sensitivity than Hus and Lord (2014; i.e. ASD .61, AD .53). The revised algorithm AD cut-off improved sensitivity over the original algorithm. Discriminating ASD from schizophrenia was still challenging, but the better-balanced sensitivity (.53) and specificity (.78) of the revised algorithm AD cut-off may aide clinicians' differential diagnosis. Findings support using the revised algorithm, being conceptually conform the other modules, thus improving comparability across the lifespan.

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

ERIC Educational Resources Information Center

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…

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population

ERIC Educational Resources Information Center

Al-Mamari, Watfa; Al-Saegh, Abeer; Al-Kindy, Adila; Bruwer, Zandre; Al-Murshedi, Fathiya; Al-Thihli, Khalid

2015-01-01

Autism Spectrum Disorders are a complicated group of disorders characterized with heterogeneous genetic etiologies. The genetic investigations for this group of disorders have expanded considerably over the past decade. In our study we designed a tired approach and studied the diagnostic yield of chromosomal microarray analysis on patients…

Vaccines and the changing epidemiology of autism.

PubMed

Taylor, B

2006-09-01

The epidemiology of autism has been rather confusing, with very variable published prevalence figures and no clear incidence data. The cause of autism is unclear; vaccines have been incriminated. Literature review and interpretation. The recorded prevalence of autism has increased considerably in recent years. This reflects greater recognition, with changes in diagnostic practice associated with more trained diagnosticians; broadening of diagnostic criteria to include a spectrum of disorder; a greater willingness by parents and educationalists to accept the label (in part because of entitlement to services); and better recording systems, among other factors. The cause(s) of autism remains unclear. There is a strong genetic component which, along with prenatally determined neuro-anatomical/biochemical changes, makes any post-natal 'cause' unlikely. There has (probably) been no real increase in the incidence of autism. There is no scientific evidence that the measles, mumps and rubella (MMR) vaccine or the mercury preservative used in some vaccines plays any part in the aetiology or triggering of autism, even in a subgroup of children with the condition.

Altered urinary porphyrins and mercury exposure as biomarkers for autism severity in Egyptian children with autism spectrum disorder.

PubMed

Khaled, Eman M; Meguid, Nagwa A; Bjørklund, Geir; Gouda, Amr; Bahary, Mohamed H; Hashish, Adel; Sallam, Nermin M; Chirumbolo, Salvatore; El-Bana, Mona A

2016-12-01

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social, communication, and behavioral development. Recent evidence supported but also questioned the hypothetical role of compounds containing mercury (Hg) as contributors to the development of ASD. Specific alterations in the urinary excretion of porphyrin-containing ring catabolites have been associated with exposure to Hg in ASD patients. In the present study, the level of urinary porphyrins, as biomarkers of Hg toxicity in children with ASD, was evaluated, and its correlation with severity of the autistic behavior further explored. A total of 100 children was enrolled in the present study. They were classified into three groups: children with ASD (40), healthy controls (40), and healthy siblings of the ASD children (20). Children with ASD were diagnosed using DSM-IV-TR, ADI-R, and CARS tests. Urinary porphyrins were evaluated within the three groups using high-performance liquid chromatography (HPLC), after plasma evaluation of mercury (Hg) and lead (Pb) in the same groups. Results showed that children with ASD had significantly higher levels of Hg, Pb, and the porphyrins pentacarboxyporphyrin, coproporphyrin, precoproporphyrin, uroporphyrins, and hexacarboxyporphyrin compared to healthy controls and healthy siblings of the ASD children. However, there was no significant statistical difference in the level of heptacarboxyporphyrin among the three groups, while a significant positive correlation between the levels of coproporphyrin and precoproporphyrin and autism severity was observed. Mothers of ASD children showed a higher percentage of dental amalgam restorations compared to the mothers of healthy controls suggesting that high Hg levels in children with ASD may relate to the increased exposure to Hg from maternal dental amalgam during pregnancy and lactation. The results showed that the ASD children in the present study had increased blood Hg and Pb levels compared with

Shorter sleep duration is associated with social impairment and comorbidities in ASD.

PubMed

Veatch, Olivia J; Sutcliffe, James S; Warren, Zachary E; Keenan, Brendan T; Potter, Melissa H; Malow, Beth A

2017-07-01

Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and other related comorbidities. Understanding the causes and consequences of sleep disturbances in children with ASD is an important step toward mitigating these symptoms. To better understand the connection between sleep duration and ASD severity, we analyzed ASD-related symptoms using the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), IQ scores, and parent reports of the average amount of time slept per night that were available in the medical histories of 2,714 children with ASD in the Simons Simplex Collection (SSC). The mean (SD) sleep duration was 555 minutes. Sleep duration and severity of core ASD symptoms were negatively correlated, and sleep duration and IQ scores were positively correlated. Regression results indicated that more severe social impairment, primarily a failure to develop peer relationships, is the core symptom most strongly associated with short sleep duration. Furthermore, increased severity for numerous maladaptive behaviors assessed on the Child Behavior Checklist, as well as reports of attention deficit disorder, depressive disorder, and obsessive compulsive disorder were associated with short sleep duration. Severity scores for social/communication impairment and restricted and repetitive behaviors (RRB) were increased, and IQ scores were decreased, for children reported to sleep ≤420 minutes per night (lower 5th percentile) compared to children sleeping ≥660 minutes (upper 95th percentile). Our results indicate that reduced amounts of sleep are related to more severe symptoms in children with ASD. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1221-1238. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism

Brief report: concurrent validity of the Leiter-R and KBIT-2 scales of nonverbal intelligence for children with autism and language impairments.

PubMed

Scattone, Dorothy; Raggio, Donald J; May, Warren

2012-11-01

The concurrent validity of the KBIT-2 Nonverbal IQ and Leiter-R Brief IQ was evaluated for two groups of children: those with high functioning autism and those with language impairments without autism. Fifty-three children between the ages of 4 and 13 years of age participated in the study. The correlation between the scales was large (r = .62) and no statistical difference was found between the means. However, large intraindividual differences were found for 11 children who received scores at least 10 points higher on the Leiter-R Brief IQ, 5 of those scored beyond 20 points higher than nonverbal scores on the KBIT-2. Conversely, 11 children scored at least 10 points higher on the KBIT-2 than on the Leiter-R with 4 of those scoring 20 points higher. These findings highlight the importance of using multiple measures when assessing individuals with autism or language disorders.

Utility of the 3Di Short Version for the Diagnostic Assessment of Autism Spectrum Disorder and Compatibility with DSM-5

ERIC Educational Resources Information Center

Slappendel, Geerte; Mandy, William; van der Ende, Jan; Verhulst, Frank C.; van der Sijde, Ad; Duvekot, Jorieke; Skuse, David; Greaves-Lord, Kirstin

2016-01-01

The Developmental Diagnostic Dimensional Interview-short version (3Di-sv) provides a brief standardized parental interview for diagnosing autism spectrum disorder (ASD). This study explored its validity, and compatibility with DSM-5 ASD. 3Di-sv classifications showed good sensitivity but low specificity when compared to ADOS-2-confirmed clinical…

Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

PubMed

Gipson, Tanjala T; Poretti, Andrea; Thomas, Emily A; Jenkins, Kosunique T; Desai, Sonal; Johnston, Michael V

2015-12-01

Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span. © The Author(s) 2015.

Measurement properties of screening and diagnostic tools for autism spectrum adults of mean normal intelligence: A systematic review.

PubMed

Baghdadli, A; Russet, F; Mottron, L

2017-07-01

The autism spectrum (AS) is a multifaceted neurodevelopmental variant associated with lifelong challenges. Despite the relevant importance of identifying AS in adults for epidemiological, public health, and quality of life issues, the measurement properties of the tools currently used to screen and diagnose adults without intellectual disabilities (ID) have not been assessed. This systematic review addresses the accuracy, reliability, and validity of the reported AS screening and diagnostic tools used in adults without ID. Electronic databases and bibliographies were searched, and identified papers evaluated against inclusion criteria. The PRISMA statement was used for reporting the review. We evaluated the quality of the papers using the COSMIN Checklist for psychometric data, and QUADAS-2 for diagnostic data. For the COSMIN assessment, evidence was considered to be strong when several methodologically good articles, or one excellent article, reported consistent evidence for or against a measurement property. For the QUADAS ratings, evidence was considered to be "satisfactory" if at least one study was rated with a low risk of bias and low concern about applicability. We included 38 articles comprising 32 studies, five reviews, and one book chapter and assessed nine tools (three diagnostic and six screening, including eight of their short versions). Among screening tools, only AQ-50, AQ-S, and RAADS-R and RAADS-14 were found to provide satisfactory or intermediate values for their psychometric properties, supported by strong or moderate evidence. Nevertheless, risks of bias and concerns on the applicability of these tools limit the evidence on their diagnostic properties. We found that none of the gold standard diagnostic tools used for children had satisfactory measurement properties. There is limited evidence for the measurement properties of the screening and diagnostic tools used for AS adults with a mean normal range of measured intelligence. This may lessen

Behavioural phenotyping assays for mouse models of autism

PubMed Central

Silverman, Jill L.; Yang, Mu; Lord, Catherine; Crawley, Jacqueline N.

2011-01-01

Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1 in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria: abnormal social interactions, communication deficits and repetitive behaviours. Strong evidence for a genetic basis has prompted the development of mouse models with targeted mutations in candidate genes for autism. As the diagnostic criteria for autism are behavioural, phenotyping these mouse models requires behavioural assays with high relevance to each category of the diagnostic symptoms. Behavioural neuroscientists are generating a comprehensive set of assays for social interaction, communication and repetitive behaviours to test hypotheses about the causes of austism. Robust phenotypes in mouse models hold great promise as translational tools for discovering effective treatments for components of autism spectrum disorders. PMID:20559336

Assessing Early Implementation of State Autism Insurance Mandates

ERIC Educational Resources Information Center

Baller, Julia Berlin; Barry, Colleen L.; Shea, Kathleen; Walker, Megan M.; Ouellette, Rachel; Mandell, David S.

2016-01-01

In the United States, health insurance coverage for autism spectrum disorder treatments has been historically limited. In response, as of 2015, 40 states and Washington, DC, have passed state autism insurance mandates requiring many health plans in the private insurance market to cover autism diagnostic and treatment services. This study examined…

Long-term memory deficits are associated with elevated synaptic ERK1/2 activation and reversed by mGluR5 antagonism in an animal model of autism.

PubMed

Seese, Ronald R; Maske, Anna R; Lynch, Gary; Gall, Christine M

2014-06-01

A significant proportion of patients with autism exhibit some degree of intellectual disability. The BTBR T(+) Itpr3(tf)/J mouse strain exhibits behaviors that align with the major diagnostic criteria of autism. To further evaluate the BTBR strain's cognitive impairments, we quantified hippocampus-dependent object location memory (OLM) and found that one-third of the BTBR mice exhibited robust memory, whereas the remainder did not. Fluorescence deconvolution tomography was used to test whether synaptic levels of activated extracellular signal-regulated kinase 1/2 (ERK1/2), a protein that contributes importantly to plasticity, correlate with OLM scores in individual mice. In hippocampal field CA1, the BTBRs had fewer post-synaptic densities associated with high levels of phosphorylated (p-) ERK1/2 as compared with C57BL/6 mice. Although counts of p-ERK1/2 immunoreactive synapses did not correlate with OLM performance, the intensity of synaptic p-ERK1/2 immunolabeling was negatively correlated with OLM scores across BTBRs. Metabotropic glutamate receptor (mGluR) 5 signaling activates ERK1/2. Therefore, we tested whether treatment with the mGluR5 antagonist MPEP normalizes synaptic and learning measures in BTBR mice: MPEP facilitated OLM and decreased synaptic p-ERK1/2 immunolabeling intensity without affecting numbers of p-ERK1/2+ synapses. In contrast, semi-chronic ampakine treatment, which facilitates memory in other models of cognitive impairment, had no effect on OLM in BTBRs. These results suggest that intellectual disabilities associated with different neurodevelopmental disorders on the autism spectrum require distinct therapeutic strategies based on underlying synaptic pathology.

The Autism Parent Screen for Infants: Predicting risk of autism spectrum disorder based on parent-reported behavior observed at 6-24 months of age.

PubMed

Sacrey, Lori-Ann R; Bryson, Susan; Zwaigenbaum, Lonnie; Brian, Jessica; Smith, Isabel M; Roberts, Wendy; Szatmari, Peter; Vaillancourt, Tracy; Roncadin, Caroline; Garon, Nancy

2018-04-01

This study examined whether a novel parent-report questionnaire, the Autism Parent Screen for Infants, could differentiate infants subsequently diagnosed with autism spectrum disorder from a high-risk cohort (siblings of children diagnosed with autism spectrum disorder (n = 66)) from high-risk and low-risk comparison infants (no family history of autism spectrum disorder) who did not develop autism spectrum disorder (n = 138 and 79, respectively). Participants were assessed prospectively at 6, 9, 12, 15, 18, and 24 months of age. At 36 months, a blind independent diagnostic assessment for autism spectrum disorder was completed. Parent report on the Autism Parent Screen for Infants was examined in relation to diagnostic outcome and risk status (i.e. high-risk sibling with autism spectrum disorder, high-risk sibling without autism spectrum disorder, and low-risk control). The results indicated that from 6 months of age, total score on the Autism Parent Screen for Infants differentiated between the siblings with autism spectrum disorder and the other two groups. The sensitivity, specificity, and positive and negative predictive validity of the Autism Parent Screen for Infants highlight its potential for the early screening of autism spectrum disorder in high-risk cohorts.

Stability of Initial Autism Spectrum Disorder Diagnoses in Community Settings

ERIC Educational Resources Information Center

Daniels, Amy M.; Rosenberg, Rebecca E.; Law, J. Kiely; Lord, Catherine; Kaufmann, Walter E.; Law, Paul A.

2011-01-01

The study's objectives were to assess diagnostic stability of initial autism spectrum disorder (ASD) diagnoses in community settings and identify factors associated with diagnostic instability using data from a national Web-based autism registry. A Cox proportional hazards model was used to assess the relative risk of change in initial ASD…

Translation and Validation of the Developmental, Dimensional and Diagnostic Interview (3Di) for Diagnosis of Autism Spectrum Disorder in Thai Children

ERIC Educational Resources Information Center

Chuthapisith, Jariya; Taycharpipranai, Pasinee; Ruangdaraganon, Nichara; Warrington, Richard; Skuse, David

2012-01-01

This study aimed to examine the effectiveness of a translated version of the short version of the Developmental, Dimensional and Diagnostic Interview (3Di) in discriminating children with autism spectrum disorders (ASDs) from typically developing children. Two groups, comprising 63 children with clinically ascertained ASDs and 67 typically…

Use of the Modified Checklist for Autism, Revised with Follow up-Albanian to Screen for ASD in Albania

PubMed Central

Brennan, Laura; Fein, Deborah; Como, Ariel; Rathwell, Iris Carcani; Chen, Chi-Ming

2016-01-01

The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R/-A) was used to screen 2,594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty three (9.75%) screened positive; follow up on failed items were conducted by phone with 127 (50%); the remainder were lost to follow-up. Twenty-six toddlers (21%) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status – Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of autism appeared very similar. PMID:27491423

Investigating diagnostic bias in autism spectrum conditions: An item response theory analysis of sex bias in the AQ-10.

PubMed

Murray, Aja Louise; Allison, Carrie; Smith, Paula L; Baron-Cohen, Simon; Booth, Tom; Auyeung, Bonnie

2017-05-01

Diagnostic bias is a concern in autism spectrum conditions (ASC) where prevalence and presentation differ by sex. To ensure that females with ASC are not under-identified, it is important that ASC screening tools do not systematically underestimate autistic traits in females relative to males. We evaluated whether the AQ-10, a brief screen for ASC recommended by the National Institute of Clinical Excellence in cases of suspected ASC, exhibits such a bias. Using an item response theory approach, we evaluated differential item functioning and differential test functioning. We found that although individual items showed some sex bias, these biases at times favored males and at other times favored females. Thus, at the level of test scores the item-level biases cancelled out to give an unbiased overall score. Results support the continued use of the AQ-10 sum score in its current form; however, suggest that caution should be exercised when interpreting responses to individual items. The nature of the item level biases could serve as a guide for future research into how ASC affects males and females differently. Autism Res 2017, 10: 790-800. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

The Effect of Diagnostic Labels on the Affective Responses of College Students towards Peers with "Asperger's Syndrome" and "Autism Spectrum Disorder"

ERIC Educational Resources Information Center

Brosnan, Mark; Mills, Elizabeth

2016-01-01

Given the removal of Asperger's Syndrome label in "Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition," the impact of clinical labels upon the affective responses of college students was explored. A total of 120 college students read two vignettes depicting social interactions typical of a person with autism spectrum…

The clinician's guide to autism.

PubMed

Harrington, John W; Allen, Korrie

2014-02-01

On the basis of the most recent epidemiologic research, Autism Spectrum Disorder (ASD) affects approximately 1% to 2% of all children. (1)(2) On the basis of some research evidence and consensus, the Modified Checklist for Autism in Toddlers isa helpful tool to screen for autism in children between ages 16 and 30 months. (11) The Diagnostic Statistical Manual of Mental Disorders, Fourth Edition, changes to a 2-symptom category from a 3-symptom category in the Diagnostic Statistical Manual of Mental Disorders, Fifth Edition(DSM-5): deficits in social communication and social interaction are combined with repetitive and restrictive behaviors, and more criteria are required per category. The DSM-5 subsumes all the previous diagnoses of autism (classic autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified) into just ASDs. On the basis of moderate to strong evidence, the use of applied behavioral analysis and intensive behavioral programs has a beneficial effect on language and the core deficits of children with autism. (16) Currently, minimal or no evidence is available to endorse most complementary and alternative medicine therapies used by parents, such as dietary changes (gluten free), vitamins, chelation, and hyperbaric oxygen. (16) On the basis of consensus and some studies, pediatric clinicians should improve their capacity to provide children with ASD a medical home that is accessible and provides family-centered, continuous, comprehensive and coordinated, compassionate, and culturally sensitive care. (20)

Defining Autism: Variability in State Education Agency Definitions of and Evaluations for Autism Spectrum Disorders

PubMed Central

Pennington, Malinda L.; Cullinan, Douglas; Southern, Louise B.

2014-01-01

In light of the steady rise in the prevalence of students with autism, this study examined the definition of autism published by state education agencies (SEAs), as well as SEA-indicated evaluation procedures for determining student qualification for autism. We compared components of each SEA definition to aspects of autism from two authoritative sources: Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) and Individuals with Disabilities Education Improvement Act (IDEA-2004). We also compared SEA-indicated evaluation procedures across SEAs to evaluation procedures noted in IDEA-2004. Results indicated that many more SEA definitions incorporate IDEA-2004 features than DSM-IV-TR features. However, despite similar foundations, SEA definitions of autism displayed considerable variability. Evaluation procedures were found to vary even more across SEAs. Moreover, within any particular SEA there often was little concordance between the definition (what autism is) and evaluation procedures (how autism is recognized). Recommendations for state and federal policy changes are discussed. PMID:24987527

Induction of arginosuccinate synthetase (ASS) expression affects the antiproliferative activity of arginine deiminase (ADI) in melanoma cells.

PubMed

Manca, Antonella; Sini, Maria Cristina; Izzo, Francesco; Ascierto, Paolo A; Tatangelo, Fabiana; Botti, Gerardo; Gentilcore, Giusy; Capone, Marilena; Mozzillo, Nicola; Rozzo, Carla; Cossu, Antonio; Tanda, Francesco; Palmieri, Giuseppe

2011-06-01

Arginine deiminase (ADI), an arginine-degrading enzyme, has been used in the treatment of tumours sensitive to arginine deprivation, such as malignant melanoma (MM) and hepatocellular carcinoma (HCC). Endogenous production of arginine is mainly dependent on activity of ornithine transcarbamylase (OTC) and argininosuccinate synthetase (ASS) enzymes. We evaluated the effect of ADI treatment on OTC and ASS expression in a series of melanoma cell lines. Twenty-five primary melanoma cell lines and normal fibroblasts as controls underwent cell proliferation assays and Western blot analyses in the presence or absence of ADI. Tissue sections from primary MMs (N = 20) and HCCs (N = 20) were investigated by immunohistochemistry for ASS expression. Overall, 21/25 (84%) MM cell lines presented a cell growth inhibition by ADI treatment; none of them presented constitutive detectable levels of the ASS protein. However, 7/21 (33%) ADI-sensitive melanoma cell lines presented markedly increased expression levels of the ASS protein following ADI treatment, with a significantly higher IC50 median value. Growth was not inhibited and the IC50 was not reached among the remaining 4/25 (16%) MM cell lines; all of them showed constitutive ASS expression. The OTC protein was found expressed in all melanoma cell lines before and after the ADI treatment. Lack of ASS immunostaining was observed in all analyzed in vivo specimens. Our findings suggest that response to ADI treatment in melanoma is significantly correlated with the ability of cells to express ASS either constitutively at basal level (inducing drug resistance) or after the treatment (reducing sensitivity to ADI).

Test Review: E. Schopler, M. E. Van Bourgondien, G. J. Wellman, & S. R. Love "Childhood Autism Rating Scale" (2nd Ed.). Los Angeles, CA--Western Psychological Services, 2010

ERIC Educational Resources Information Center

Vaughan, Chelsea A.

2011-01-01

The author reviews Childhood Autism Rating Scale-Second Edition (CARS2), a useful tool for supporting the diagnostic process and for forming intervention recommendations once a diagnosis has been made. CARS2 consists of three rating forms designed to identify symptoms associated with autism spectrum disorders (ASD). Published in 2010, the CARS2…

Tensile properties of ADI material in water and gaseous environments

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rajnovic, Dragan, E-mail: draganr@uns.ac.rs; Balos, Sebastian; Sidjanin, Leposava

2015-03-15

Austempered ductile iron (ADI) is an advanced type of heat treated ductile iron, having comparable mechanical properties as forged steels. However, it was found that in contact with water the mechanical properties of austempered ductile irons decrease, especially their ductility. Despite considerable scientific attention, the cause of this phenomenon remains unclear. Some authors suggested that hydrogen or small atom chemisorption causes the weakening of the surface atomic bonds. To get additional reliable data of that phenomenon, in this paper, two different types of austempered ductile irons were tensile tested in various environments, such as: argon, helium, hydrogen gas and water.more » It was found that only the hydrogen gas and water gave a statistically significant decrease in mechanical properties, i.e. cause embrittlement. Furthermore, the fracture surface analysis revealed that the morphology of the embrittled zone near the specimen surface shares similarities to the fatigue micro-containing striation-like lines, which indicates that the morphology of the brittle zone may be caused by cyclic local-chemisorption, micro-embrittlement and local-fracture. - Highlights: • In contact with water and other liquids the ADI suddenly exhibits embrittlement. • The embrittlement is more pronounced in water than in the gaseous hydrogen. • The hydrogen chemisorption into ADI surface causes the formation of a brittle zone. • The ADI austempered at lower temperatures (300 °C) is more resistant to embrittlement.« less

Identifying autism early: The Toddlers at Risk of Autism Clinic model.

PubMed

Davis, Tessa; Clifton, Deirdre; Papadopoulos, Con

2015-07-01

This paper describes the Toddlers at Risk of Autism Clinic (TRAC), which utilises the Social Attention and Communication Study (SACS) and/or Autism Detection in Early Childhood (ADEC) play-based assessments to facilitate the early diagnosis of autism. A retrospective audit was conducted of all 42 children assessed over a 3-year period in the TRAC. A semi-structured interview and play-based assessment (SACS and ADEC) were used to aid experienced clinicians in diagnosing autism. Intervention was recommended, and families were routinely followed up. Analysis was conducted on the tools used, the outcomes of assessment, diagnosis and stability of diagnosis on follow-up. During this period, 35 boys and 7 girls were assessed, with a mean age of 25 months. The average waiting time for clinic was 11.6 weeks. Twenty-five patients were diagnosed with autism; 90.5% of toddlers given an initial diagnosis retained that diagnosis at follow-up. Out of the 17 children who were not diagnosed with autism in the TRAC, one child was later diagnosed with autism. Experienced clinicians can use the SACS and/or ADEC to assist with a Diagnostic and Statistical Manual diagnosis of autism in toddlers. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Symptoms of Autism in Young Children and Correspondence with the DSM.

ERIC Educational Resources Information Center

Calhoun, Susan L.; Mayes, Susan Dickerson

1999-01-01

The Checklist for Autism in Young Children, comprising 30 symptoms, was administered to 143 children with autism. The children had an average of 23 (77 percent) of the listed symptoms. Percentages of children exhibiting each checklist symptom and other data were compared with diagnostic criteria reported in the Diagnostic and Statistical Manual…

Autism overflows: increasing prevalence and proliferating theories.

PubMed

Waterhouse, Lynn

2008-12-01

This selective review examines the lack of an explanation for the sharply increasing prevalence of autism, and the lack of any synthesis of the proliferating theories of autism. The most controversial and most widely disseminated notion for increasing prevalence is the measles-mumps-rubella/thimerosal vaccine theory. Less controversial causes that have been proposed include changes in autism diagnostic criteria, increasing services for autism, and growing awareness of the disorder. Regardless of its causes, the increasing prevalence of autism has put pressure on the field of autism research to generate productive and predictive theories of autism. However, the heterogeneity of brain deficits, impaired behaviors, and genetic variants in autism have challenged researchers and theorists, and despite 45 years of research, no standard causal synthesis has emerged. Research going forward should assume that autism is an aggregation of myriad independent disorders of impaired sociality, social cognition, communication, and motor and cognitive skills.

Prevalence of Autism Spectrum Disorders in Siblings of Indian Children With Autism Spectrum Disorders.

PubMed

Kumar, Ankur; Juneja, Monica; Mishra, Devendra

2016-06-01

This study determined the prevalence of autism spectrum disorders in 201 siblings of children with autism spectrum disorders. Siblings were screened using Modified Checklist for Autism in Toddlers and Social Responsiveness Scale, parent version. Screen-positive siblings were assessed using Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) criteria. The risk of autism spectrum disorder in siblings was correlated with various familial and disease characteristics of the index case. Prevalence of autism spectrum disorder in siblings was 4.97%. There was a significant effect of the presence of aggressive behavior, externalizing problems and total problems in the proband, assessed using Childhood Behavior Checklist, and the young age of the father at conception on sibling risk of autism spectrum disorder. Results of our study are in line with previous studies reporting similar prevalence but have also brought up the association with behavioral problems as a possible risk factor. Siblings of children with autism spectrum disorder should be routinely screened, and genetic counseling for this increased risk should be explained to the family. © The Author(s) 2016.

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

PubMed

Oliveira, G; Diogo, L; Grazina, M; Garcia, P; Ataíde, A; Marques, C; Miguel, T; Borges, L; Vicente, A M; Oliveira, C R

2005-03-01

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview--Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.

Presentation of depression in autism and Asperger syndrome: a review.

PubMed

Stewart, Mary E; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

2006-01-01

Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and Asperger syndrome, as the characteristics of these disorders, such as social withdrawal and appetite and sleep disturbance, are also core symptoms of depression. Impaired verbal and non-verbal communication can mask the symptoms of depression. Symptoms associated with autism and Asperger syndrome such as obsessionality and self-injury may be increased during an episode of depression. There is a clear need to develop specific tools both for diagnostic purposes and for measurement of depression in autism and Asperger syndrome in order to help alleviate the distress caused by this treatable illness.

Mercury and Autism: A Review

ERIC Educational Resources Information Center

Zhang, Jie; Wheeler, John J.

2010-01-01

The prevalence of autism has increased approximately four times in children in nearly one decade (California Health and Human Services Agency, 2003). It has been reported that explanations such as immigration, shifts in the interpretation of diagnostic criteria, improved identification, or diagnostic accuracies cannot explain the observed increase…

Presentation of Depression in Autism and Asperger Syndrome: A Review

ERIC Educational Resources Information Center

Stewart, Mary E.; Barnard, Louise; Pearson, Joanne; Hasan, Reem; O'Brien, Gregory

2006-01-01

Depression is common in autism and Asperger syndrome, but despite this, there has been little research into this issue. This review considers the current literature on the prevalence, presentation, treatment and assessment of depression in autism and Asperger syndrome. There are diagnostic difficulties when considering depression in autism and…

Profiles of Receptive and Expressive Language Abilities in Boys with Comorbid Fragile X Syndrome and Autism

ERIC Educational Resources Information Center

McDuffie, Andrea; Kover, Sara; Abbeduto, Leonard; Lewis, Pamela; Brown, Ted

2012-01-01

The authors examined receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms. A categorical approach for assigning autism diagnostic classification, based on the combined use of the Autism Diagnostic Interview--Revised and the Autism…

Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges

PubMed Central

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

Polysubstance and Behavioral Addictions in a Patient with Bipolar Disorder: Role of Lifetime Subthreshold Autism Spectrum

PubMed Central

Dell'Osso, Liliana; Conversano, Ciro; Bertelloni, Carlo A.; Cremone, Ivan M.; Carpita, Barbara; Gesi, Camilla

2018-01-01

This case report draws attention to the potential relevance of undetected autism spectrum symptoms in a bipolar patient with high work functioning showing a peculiar addictive profile with impulsive and antisocial behaviors. A 23-year-old man with a diagnosis of Bipolar Disorder (BD) and Substance Use Disorder (SUD) was hospitalized at the Psychiatric Clinic of the University of Pisa for diuretics and β-2 adrenergic agonist abuse in a remission phase of benzodiazepines and substance abuse. He reported a history of behavioral addictions in the framework of a global high work functioning with particular skills in computer science. When assessed for adult autism spectrum symptoms, despite not fulfilling a DSM-5 diagnosis of Autism Spectrum Disorder (ASD), he reported a score of 93/240 at the Ritvo Autism and Asperger Diagnostic Scale (RAADS-r) and of 88/160 at the Adult Autism Subthreshold Spectrum (AdAS Spectrum), both indicative of ASD. We argue the possible role of adult subthreshold autism spectrum features, generally disregarded in adult psychiatry, in the peculiar addictive profile developed by this patient with BD that may deserve appropriate treatment. PMID:29682383

Sex Differences in the Reciprocal Behaviour of Children with Autism

ERIC Educational Resources Information Center

Backer van Ommeren, Tineke; Koot, Hans M.; Scheeren, Anke M.; Begeer, Sander

2017-01-01

Differences in the social limitations of girls compared to boys on the autism spectrum are still poorly understood. Impaired social-emotional reciprocity is a core diagnostic criterion for an autism spectrum disorder. This study compares sex differences in reciprocal behaviour in children with autism spectrum disorder (32 girls, 114 boys) and in…

Diagnostic Stability of Autism Spectrum Disorder in Toddlers Prospectively Identified in a Community-Based Setting: Behavioural Characteristics and Predictors of Change over Time

ERIC Educational Resources Information Center

Barbaro, Josephine; Dissanayake, Cheryl

2017-01-01

Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that…

The recognition of autism in children with Down syndrome--implications for intervention and some speculations about pathology.

PubMed

Howlin, P; Wing, L; Gould, J

1995-05-01

Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 or DSM-III-R, but in each case the parents had faced considerable difficulties in obtaining this diagnosis. Instead, the children's problems had been attributed to their cognitive delays, despite the fact that their behaviour and general progress differed from other children with Down syndrome in many important aspects. The implications, for both families and children, of the failure to diagnose autism when it co-occurs with other conditions such as Down syndrome are discussed. Some speculations about possible pathological associations are also presented.

Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

PubMed Central

Zwaigenbaum, Lonnie; Bryson, Susan; Lord, Catherine; Rogers, Sally; Carter, Alice; Carver, Leslie; Chawarska, Kasia; Constantino, John; Dawson, Geraldine; Dobkins, Karen; Fein, Deborah; Iverson, Jana; Klin, Ami; Landa, Rebecca; Messinger, Daniel; Ozonoff, Sally; Sigman, Marian; Stone, Wendy; Tager-Flusberg, Helen; Yirmiya, Nurit

2010-01-01

With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group. PMID:19403506

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

ERIC Educational Resources Information Center

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…

Approach to autism spectrum disorder: Using the new DSM-V diagnostic criteria and the CanMEDS-FM framework.

PubMed

Lee, Patrick F; Thomas, Roger E; Lee, Patricia A

2015-05-01

To review the diagnostic criteria for autism spectrum disorder (ASD) from the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V), and to develop an approach to managing ASD using the CanMEDS- Family Medicine (CanMEDS-FM) framework. The DSM-V from the American Psychiatric Association, published in May 2013, provides new diagnostic criteria for ASD. The College of Family Physicians of Canada's CanMEDS-FM framework provides a blueprint that can guide the complex management of ASD. We used data from the Centers for Disease Control and Prevention to determine the prevalence of ASD, and we used the comprehensive systematic review and meta-analysis completed by the UK National Institute for Health and Care Excellence for their guidelines on ASD to assess the evidence for more than 100 interventions. The prevalence of ASD was 1 in 88 in 2008 in the United States according to data from the Centers for Disease Control and Prevention. The ASD classification in the fourth edition of the DSM included autism, Asperger syndrome, pervasive developmental disorder, and childhood disintegrative disorder. The new DSM-V revision incorporates all these disorders into one ASD umbrella term with different severity levels. The management of ASD is complex and requires a multidisciplinary team effort and continuity of care. The CanMEDS-FM roles provide a framework for management. Family physicians are the key leaders of the multidisciplinary care team for ASD, and the CanMEDS-FM framework provides a comprehensive guide to help manage a child with ASD and to help the child's family. Copyright© the College of Family Physicians of Canada.

Factors associated with DSM-5 severity level ratings for autism spectrum disorder.

PubMed

Mazurek, Micah O; Lu, Frances; Macklin, Eric A; Handen, Benjamin L

2018-02-01

The newest edition of the Diagnostic and Statistical Manual of Mental Disorders (5th ed., DSM-5) introduced substantial changes to the diagnostic criteria for autism spectrum disorder, including new severity level ratings for social communication and restricted and repetitive behavior domains. The purpose of this study was to evaluate the use of these new severity ratings and to examine their relation to other measures of severity and clinical features. Participants included 248 children with autism spectrum disorder who received diagnostic evaluations at one of six Autism Treatment Network sites. Higher severity ratings in both domains were associated with younger age, lower intelligence quotient, and greater Autism Diagnostic Observation Schedule-Second Edition domain-specific symptom severity. Greater restricted and repetitive behavior severity was associated with higher parent-reported stereotyped behaviors. Severity ratings were not associated with emotional or behavioral problems. The new DSM-5 severity ratings in both domains were significantly associated with behavioral observations of autism severity but not with measures of other behavioral or emotional symptoms. However, the strong associations between intelligence quotient and DSM-5 severity ratings in both domains suggest that clinicians may be including cognitive functioning in their overall determination of severity. Further research is needed to examine clinician decision-making and interpretation of these specifiers.

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

PubMed Central

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. PMID:27867417

Social communication disorder outside autism? A diagnostic classification approach to delineating pragmatic language impairment, high functioning autism and specific language impairment.

PubMed

Gibson, Jenny; Adams, Catherine; Lockton, Elaine; Green, Jonathan

2013-11-01

Developmental disorders of language and communication present considerable diagnostic challenges due to overlapping of symptomatology and uncertain aetiology. We aimed to further elucidate the behavioural and linguistic profile associated with impairments of social communication occurring outside of an autism diagnosis. Six to eleven year olds diagnosed with pragmatic language impairment (PLI), high functioning autism (HFA) or specific language impairment (SLI) were compared on measures of social interaction with peers (PI), restricted and repetitive behaviours/interests (RRBIs) and language ability. Odds ratios (OR) from a multinomial logistic regression were used to determine the importance of each measure to diagnostic grouping. MANOVA was used to investigate differences in subscale scores for the PI measure. Greater degrees of PI difficulties (OR = 1.22, 95% CI = 1.05-1.41), RRBI (OR = 1.23, 95% CI = 1.06-1.42) and expressive language ability (OR = 1.16, 95% CI = 1.03-1.30) discriminated HFA from PLI. PLI was differentiated from SLI by elevated PI difficulties (OR = 0.82, 95% CI = 0.70-0.96) and higher expressive language ability (OR = 0.88, 95% CI = 0.77-0.98), but indistinguishable from SLI using RRBI (OR = 1.01, 95% CI=0.94-1.09). A significant effect of group on PI subscales was observed (θ = 1.38, F(4, 56) = 19.26, p < .01) and PLI and HFA groups shared a similar PI subscale profile. Results provide empirical support for a conceptualisation of PLI as a developmental impairment distinguishable from HFA by absence of RRBIs and by the presence of expressive language difficulties. PI difficulties appear elevated in PLI compared with SLI, but may be less pervasive than in HFA. Findings are discussed with reference to the proposed new category of 'social communication disorder' in DSM-5. © 2013 The Authors Journal of Child Psychology and Psychiatry © 2013 Association for Child and Adolescent Mental Health.

Stability of Early Risk Assessment for Autism Spectrum Disorder in Preterm Infants

ERIC Educational Resources Information Center

Yaari, Maya; Yitzhak, Neta; Harel, Ayelet; Friedlander, Edwa; Bar-Oz, Benjamin; Eventov-Friedman, Smadar; Mankuta, David; Gamliel, Ifat; Yirmiya, Nurit

2016-01-01

Stability and change in early autism spectrum disorder risk were examined in a cohort of 99 preterm infants (?34 weeks of gestation) using the Autism Observation Scale for Infants at 8 and 12 months and the Autism Diagnostic Observation Schedule--Toddler Module at 18 months. A total of 21 infants were identified at risk by the Autism Observation…

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

PubMed Central

Silverman, J L; Pride, M C; Hayes, J E; Puhger, K R; Butler-Struben, H M; Baker, S; Crawley, J N

2015-01-01

Autism spectrum disorder (ASD) is diagnosed by two core behavioral criteria, unusual reciprocal social interactions and communication, and stereotyped, repetitive behaviors with restricted interests. Excitatory/inhibitory imbalance is a prominent hypothesis for the etiology of autism. The selective GABAB receptor agonist R-baclofen previously reversed social deficits and reduced repetitive behaviors in a mouse model of Fragile X syndrome, and Arbaclofen improved some clinical symptoms in some Fragile X and ASD patients. To evaluate R-baclofen in a broader range of mouse models of ASD, we tested both the R-baclofen enantiomer and the less potent S-baclofen enantiomer in two inbred strains of mice that display low sociability and/or high repetitive or stereotyped behaviors. R-baclofen treatment reversed social approach deficits in BTBR T+ Itpr3tf/J (BTBR), reduced repetitive self-grooming and high marble burying scores in BTBR, and reduced stereotyped jumping in C58/J (C58), at nonsedating doses. S-baclofen produced minimal effects at the same doses. These findings encourage investigations of R-baclofen in other preclinical model systems. Additional clinical studies may be warranted to further evaluate the hypothesis that the GABAB receptor represents a promising pharmacological target for treating appropriately stratified subsets of individuals with ASD. PMID:25754761

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism.

PubMed

Silverman, J L; Pride, M C; Hayes, J E; Puhger, K R; Butler-Struben, H M; Baker, S; Crawley, J N

2015-08-01

Autism spectrum disorder (ASD) is diagnosed by two core behavioral criteria, unusual reciprocal social interactions and communication, and stereotyped, repetitive behaviors with restricted interests. Excitatory/inhibitory imbalance is a prominent hypothesis for the etiology of autism. The selective GABAB receptor agonist R-baclofen previously reversed social deficits and reduced repetitive behaviors in a mouse model of Fragile X syndrome, and Arbaclofen improved some clinical symptoms in some Fragile X and ASD patients. To evaluate R-baclofen in a broader range of mouse models of ASD, we tested both the R-baclofen enantiomer and the less potent S-baclofen enantiomer in two inbred strains of mice that display low sociability and/or high repetitive or stereotyped behaviors. R-baclofen treatment reversed social approach deficits in BTBR T+ Itpr3tf/J (BTBR), reduced repetitive self-grooming and high marble burying scores in BTBR, and reduced stereotyped jumping in C58/J (C58), at nonsedating doses. S-baclofen produced minimal effects at the same doses. These findings encourage investigations of R-baclofen in other preclinical model systems. Additional clinical studies may be warranted to further evaluate the hypothesis that the GABAB receptor represents a promising pharmacological target for treating appropriately stratified subsets of individuals with ASD.

Theory of Mind Predicts Severity Level in Autism

ERIC Educational Resources Information Center

Hoogenhout, Michelle; Malcolm-Smith, Susan

2017-01-01

We investigated whether theory of mind skills can indicate autism spectrum disorder severity. In all, 62 children with autism spectrum disorder completed a developmentally sensitive theory of mind battery. We used intelligence quotient, "Diagnostic and Statistical Manual of Mental Disorders" (4th ed.) diagnosis and level of support…

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

PubMed

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.

The Effect of Instructional Use of an iPad[R] on Challenging Behavior and Academic Engagement for Two Students with Autism

ERIC Educational Resources Information Center

Neely, Leslie; Rispoli, Mandy; Camargo, Siglia; Davis, Heather; Boles, Margot

2013-01-01

iPads[R] are increasingly used in the education of children with autism spectrum disorder. However, few empirical studies have examined the effects of iPads[R] on student behaviors. The purpose of this study was to compare academic instruction delivered with an iPad[R] to instruction delivered through traditional materials for two students with…

The Modified Checklist for Autism in Toddlers: A Follow-Up Study Investigating the Early Detection of Autism Spectrum Disorders

ERIC Educational Resources Information Center

Kleinman, Jamie M.; Robins, Diana L.; Ventola, Pamela E.; Pandey, Juhi; Boorstein, Hilary C.; Esser, Emma L.; Wilson, Leandra B.; Rosenthal, Michael A.; Sutera, Saasha; Verbalis, Alyssa D.; Barton, Marianne; Hodgson, Sarah; Green, James; Dumont-Mathieu, Thyde; Volkmar, Fred; Chawarska, Katarzyna; Klin, Ami; Fein, Deborah

2008-01-01

Autism spectrum disorders (ASD) often go undetected in toddlers. The Modified Checklist for Autism in Toddlers (M-CHAT) was used to screen 3,793 children aged 16-30 months from low- and high-risk sources; screen positive cases were diagnostically evaluated. Re-screening was performed on 1,416 children aged 42-54 months. Time1 Positive Predictive…

Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism

NASA Astrophysics Data System (ADS)

Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T.

2016-08-01

Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3-6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children’s motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay.

Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism.

PubMed

Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T

2016-08-24

Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3-6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children's motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay.

Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism

PubMed Central

Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T.

2016-01-01

Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3–6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children’s motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay. PMID:27553971

Autism in Angelman Syndrome: An Exploration of Comorbidity

ERIC Educational Resources Information Center

Trillingsgaard, Anegen; Ostergaard, John R.

2004-01-01

The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome…

Linguistic and Cognitive Functioning and Autism Symptoms in Young Children with Fragile X Syndrome

ERIC Educational Resources Information Center

Philofsky, Amy; Hepburn, Susan L.; Hayes, Athena; Hagerman, Randi; Rogers, Sally J.

2004-01-01

Linguistic and cognitive profiles were examined in 18 children with autism and 18 children with fragile X syndrome (mean ages = 34 months). State-of-the-art diagnostic procedures for autism symptom identification were administered. Eight children with fragile X met criteria for autism. Comparison of linguistic and cognitive profiles (autism,…

Peripheral Inflammatory Markers Contributing to Comorbidities in Autism

PubMed Central

Inga Jácome, Martha Cecilia; Morales Chacòn, Lilia Maria; Vera Cuesta, Hector; Maragoto Rizo, Carlos; Whilby Santiesteban, Mabel; Ramos Hernandez, Lesyanis; Noris García, Elena; González Fraguela, Maria Elena; Fernandez Verdecia, Caridad Ivette; Vegas Hurtado, Yamilé; Siniscalco, Dario; Gonçalves, Carlos Alberto; Robinson-Agramonte, Maria de los Angeles

2016-01-01

This study evaluates the contribution of peripheral biomarkers to comorbidities and clinical findings in autism. Seventeen autistic children and age-matched typically developing (AMTD), between three to nine years old were evaluated. The diagnostic followed the Diagnostic and Statistical Manual of Mental Disorders 4th Edition (DMS-IV) and the Childhood Autism Rating Scale (CARS) was applied to classify the severity. Cytokine profile was evaluated in plasma using a sandwich type ELISA. Paraclinical events included electroencephalography (EEG) record. Statistical analysis was done to explore significant differences in cytokine profile between autism and AMTD groups and respect clinical and paraclinical parameters. Significant differences were found to IL-1β, IL-6, IL-17, IL-12p40, and IL-12p70 cytokines in individuals with autism compared with AMTD (p < 0.05). All autistic patients showed interictalepileptiform activity at EEG, however, only 37.5% suffered epilepsy. There was not a regional focalization of the abnormalities that were detectable with EEG in autistic patients with history of epilepsy. A higher IL-6 level was observed in patients without history of epilepsy with interictalepileptiform activity in the frontal brain region, p < 0.05. In conclusion, peripheral inflammatory markers might be useful as potential biomarkers to predict comorbidities in autism as well as reinforce and aid informed decision-making related to EEG findings in children with Autism spectrum disorders (ASD). PMID:27983615

76 FR 36121 - Recent Posting to the Applicability Determination Index (ADI) Database System of Agency...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-21

..., and regulatory interpretations, and posts them on the ADI on a quarterly basis. In addition, the ADI... NSPS A, AAa Installation of a Capacitor Bank and Tuned Reactor 1000019 NSPS AAAA Conversion of Post... WWW Amended Design Capacity Reports A100001 Asbestos M Removal of Asbestos Containing Coating...

Assessing early implementation of state autism insurance mandates.

PubMed

Baller, Julia Berlin; Barry, Colleen L; Shea, Kathleen; Walker, Megan M; Ouellette, Rachel; Mandell, David S

2016-10-01

In the United States, health insurance coverage for autism spectrum disorder treatments has been historically limited. In response, as of 2015, 40 states and Washington, DC, have passed state autism insurance mandates requiring many health plans in the private insurance market to cover autism diagnostic and treatment services. This study examined five states' experiences implementing autism insurance mandates. Semi-structured, key-informant interviews were conducted with 17 participants representing consumer advocacy organizations, provider organizations, and health insurance companies. Overall, participants thought that the mandates substantially affected the delivery of autism services. While access to autism treatment services has increased as a result of implementation of state mandates, states have struggled to keep up with the demand for services. Participants provided specific information about barriers and facilitators to meeting this demand. Understanding of key informants' perceptions about states' experiences implementing autism insurance mandates is useful for other states considering adopting or expanding mandates or other policies to expand access to autism treatment services. © The Author(s) 2015.

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.

PubMed

Wang, Xiaoming; Bey, Alexandra L; Katz, Brittany M; Badea, Alexandra; Kim, Namsoo; David, Lisa K; Duffney, Lara J; Kumar, Sunil; Mague, Stephen D; Hulbert, Samuel W; Dutta, Nisha; Hayrapetyan, Volodya; Yu, Chunxiu; Gaidis, Erin; Zhao, Shengli; Ding, Jin-Dong; Xu, Qiong; Chung, Leeyup; Rodriguiz, Ramona M; Wang, Fan; Weinberg, Richard J; Wetsel, William C; Dzirasa, Kafui; Yin, Henry; Jiang, Yong-Hui

2016-05-10

Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4-22 (Δe4-22). Both mGluR5-Homer scaffolds and mGluR5-mediated signalling are selectively altered in striatal neurons. These changes are associated with perturbed function at striatal synapses, abnormal brain morphology, aberrant structural connectivity and ASD-like behaviour. In vivo recording reveals that the cortico-striatal-thalamic circuit is tonically hyperactive in mutants, but becomes hypoactive during social behaviour. Manipulation of mGluR5 activity attenuates excessive grooming and instrumental learning differentially, and rescues impaired striatal synaptic plasticity in Δe4-22(-/-) mice. These findings show that deficiency of Shank3 can impair mGluR5-Homer scaffolding, resulting in cortico-striatal circuit abnormalities that underlie deficits in learning and ASD-like behaviours. These data suggest causal links between genetic, molecular, and circuit mechanisms underlying the pathophysiology of ASDs.

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

PubMed Central

Wang, Xiaoming; Bey, Alexandra L.; Katz, Brittany M.; Badea, Alexandra; Kim, Namsoo; David, Lisa K.; Duffney, Lara J.; Kumar, Sunil; Mague, Stephen D.; Hulbert, Samuel W.; Dutta, Nisha; Hayrapetyan, Volodya; Yu, Chunxiu; Gaidis, Erin; Zhao, Shengli; Ding, Jin-Dong; Xu, Qiong; Chung, Leeyup; Rodriguiz, Ramona M.; Wang, Fan; Weinberg, Richard J.; Wetsel, William C.; Dzirasa, Kafui; Yin, Henry; Jiang, Yong-hui

2016-01-01

Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural circuit mechanisms underlying ASDs remain elusive. Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4–22 (Δe4–22). Both mGluR5-Homer scaffolds and mGluR5-mediated signalling are selectively altered in striatal neurons. These changes are associated with perturbed function at striatal synapses, abnormal brain morphology, aberrant structural connectivity and ASD-like behaviour. In vivo recording reveals that the cortico-striatal-thalamic circuit is tonically hyperactive in mutants, but becomes hypoactive during social behaviour. Manipulation of mGluR5 activity attenuates excessive grooming and instrumental learning differentially, and rescues impaired striatal synaptic plasticity in Δe4–22−/− mice. These findings show that deficiency of Shank3 can impair mGluR5-Homer scaffolding, resulting in cortico-striatal circuit abnormalities that underlie deficits in learning and ASD-like behaviours. These data suggest causal links between genetic, molecular, and circuit mechanisms underlying the pathophysiology of ASDs. PMID:27161151

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

PubMed

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, p<0.001, adj.R(2)=0.407), in particular with verbal IQ (β=0.502, p=0.001, adj.R(2)=0.409), but not with performal IQ (β=0.241, p>0.05, 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.

Predictive Validity of Self-Report Questionnaires in the Assessment of Autism Spectrum Disorders in Adults

ERIC Educational Resources Information Center

Sizoo, Bram B.; Horwitz, E. H.; Teunisse, J. P.; Kan, C. C.; Vissers, C. T. W. M.; Forceville, E. J. M.; Van Voorst, A. J. P.; Geurts, H. M.

2015-01-01

While various screening instruments for autism spectrum disorders are widely used in diagnostic assessments, their psychometric properties have not been simultaneously evaluated in the outpatient setting where these instruments are used most. In this study, we tested the Ritvo Autism Asperger Diagnostic Scale-Revised and two short versions of the…

Autism in Action: Reduced Bodily Connectedness during Social Interactions?

PubMed

Peper, C Lieke E; van der Wal, Sija J; Begeer, Sander

2016-01-01

Autism is a lifelong disorder, defined by deficits in social interactions and flexibility. To date, diagnostic markers for autism primarily include limitations in social behavior and cognition. However, such tests have often shown to be inadequate for individuals with autism who are either more cognitively able or intellectually disabled. The assessment of the social limitations of autism would benefit from new tests that capture the dynamics of social initiative and reciprocity in interaction processes, and that are not dependent on intellectual or verbal skills. New entry points for the development of such assessments may be found in 'bodily connectedness', the attunement of bodily movement between two individuals. In typical development, bodily connectedness is related to psychological connectedness, including social skills and relation quality. Limitations in bodily connectedness could be a central mechanism underlying the social impairment in autism. While bodily connectedness can be minutely assessed with advanced techniques, our understanding of these skills in autism is limited. This Perspective provides examples of how the potential relation between bodily connectedness and specific characteristics of autism can be examined using methods from the coordination dynamics approach. Uncovering this relation is particularly important for developing sensitive tools to assess the tendency to initiate social interactions and the dynamics of mutual adjustments during social interactions, as current assessments are not suited to grasp ongoing dynamics and reciprocity in behavior. The outcomes of such research may yield valuable openings for the development of diagnostic markers for autism that can be applied across the lifespan.

Pre-Diagnostic and Diagnostic Stages of Autism Spectrum Disorder: A Parent Perspective

ERIC Educational Resources Information Center

Wong, Venus; Yu, Yue; Keyes, Melissa L.; McGrew, John H.

2017-01-01

This study examined the experiences of parents receiving an autism spectrum disorder (ASD) diagnosis for their child. Mixed methods were used to give a detailed account of the sequence of events, parents' experiences and actions associated with the ASD diagnosis. Parents waited nearly two and a half years (mean = 28.72 months) before receiving the…

Brief Report: Autism Awareness--Views from a Campus Community

ERIC Educational Resources Information Center

Tipton, Leigh Ann; Blacher, Jan

2014-01-01

This paper reports on a college community's views of the diagnostic characteristics and causes associated with autism spectrum disorders. An anonymous on-line survey of autism knowledge was distributed via campus server university-wide to all undergraduates, graduate students, faculty, and staff. Of the 1,057 surveys completed, 76% of…

Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders – lessons from research and practice

PubMed Central

Charman, Tony; Gotham, Katherine

2012-01-01

Background and Scope Significant progress has been made over the past two decades in the development of screening and diagnostic instruments for autism spectrum disorders (ASD). This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then turns to addressing issues arising from their use in clinical settings. Findings Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically-referred samples, as well as the accuracy of diagnostic instruments to map onto ‘gold standard’ clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD, which remains a behaviourally-defined disorder. In addition screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, since their accuracy will always be lower for marginal cases. Conclusion Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings. PMID:23539140

Autism and Mitochondrial Disease

ERIC Educational Resources Information Center

Haas, Richard H.

2010-01-01

Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears…

Diagnostic Efficiency of easyCBM[R] Math: Oregon. Technical Report #1009

ERIC Educational Resources Information Center

Anderson, Daniel; Alonzo, Julie; Tindal, Gerald

2010-01-01

The easyCBM[R] assessment system is an online benchmark and progress monitoring assessment system designed for use within a response to intervention framework. Educators using easyCBM[R] are often interested in using the results to predict students' state test performance. In the following technical document, we report diagnostic efficiency…

Circulating miR-128 as a potential diagnostic biomarker for glioma.

PubMed

Liang, Ruo-Fei; Li, Mao; Yang, Yuan; Wang, Xiang; Mao, Qing; Liu, Yan-Hui

2017-09-01

miR-128 in circulation is a promising marker for early diagnosis of glioma. A meta-analysis was performed to evaluate the diagnostic accuracy and clinical value of circulating miR-128 in patients with glioma. A comprehensive literature search for relevant published articles (last search updated on December 29, 2016) was conducted in the Chinese Biomedical Literature Database, PubMed, and Embase. The quality assessment of diagnostic accuracy studies (QUADAS) tool was used to score the quality of the eligible studies. Meta-Disc 1.4 software was used to test for heterogeneity and to perform the meta-analysis. The three studies included in our study enrolled a total of 191 patients with glioma and 73 individuals without tumor. Using a fixed-effect model analysis, the summary assessments revealed that the pooled sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio were 0.89 (95% CI: 0.84-0.93), 0.90 (95% CI: 0.81-0.96), 8.07 (95% CI: 4.21-15.46), and 0.13 (95% CI: 0.09-0.19), respectively. The diagnostic odds ratio (DOR) of miR-128 was 65.00 (95% CI: 26.90-157.10), indicating that the overall accuracy of the miR-128 test for detecting glioma was high. The value of I 2 was 0.0%, indicating that there was no significant heterogeneity among studies. The present meta-analysis showed that circulating miR-128 might be a promising noninvasive biomarker for diagnosing glioma. Copyright © 2017 Elsevier B.V. All rights reserved.

Change in Autism Classification with Early Intervention: Predictors and Outcomes

ERIC Educational Resources Information Center

Ben Itzchak, Esther; Zachor, Ditza A.

2009-01-01

The current study characterized stability and changes of autism diagnostic classification with intervention in very young children and examined pre-treatment predictors and post-intervention outcome. Sixty-eight children diagnosed with autism, aged 18-35 months (M = 25.4, SD = 4.0) participated in the study. Children underwent comprehensive…

Motor Stereotypies in Children with Autism and Other Developmental Disorders

ERIC Educational Resources Information Center

Goldman, Sylvie; Wang, Cuiling; Salgado, Miran W.; Greene, Paul E.; Kim, Mimi; Rapin, Isabelle

2009-01-01

The purpose of the study was to count and characterize the range of stereotypies--repetitive rhythmical, apparently purposeless movements--in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy…

Rates of Autism Spectrum Disorder Diagnosis Under the DSM-5 Criteria Compared to DSM-IV-TR Criteria in a Hospital-Based Clinic.

PubMed

Hartley-McAndrew, Michelle; Mertz, Jana; Hoffman, Martin; Crawford, Donald

2016-04-01

We aimed to determine whether there was a decrease in the number of children diagnosed on the autism spectrum after the implementation of the new diagnostic criteria as outlined in the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition published in May 2013. We reviewed 1552 charts of children evaluated at the Women and Children's Hospital of Buffalo, Autism Spectrum Disorders Clinic. A comparison was made of children diagnosed with autism spectrum disorder (autism, Asperger disorder, pervasive developmental disorder-not otherwise specified) from 2010 to May 2013 using the Diagnostic and Statistical Manual of Mental Health Disorders Fourth Edition, Text Revision criteria with children diagnosed from June 2013 through June 2015 under the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition. Using χ(2) analysis, the 2013-2015 rate of autism spectrum disorder diagnosis (39%) was significantly lower (P < 0.01) than the 2010 to May 2013 sample years rate (50%). The rate of autism spectrum disorder diagnosis was significantly lower under the recently implemented Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition criteria. Published by Elsevier Inc.

Food preferences and factors influencing food selectivity for children with autism spectrum disorders.

PubMed

Schreck, Kimberly A; Williams, Keith

2006-01-01

Although clinicians and parents widely accept that children with autism spectrum disorder exhibit more feeding problems than their typically developing peers, little information is available concerning the characteristic food items accepted by these children or the possible factors contributing to these feeding problems. This article used an informant-based questionnaire to survey parents of children with autism spectrum disorders (N=138) to determine: (a) the types of feeding problems their children typically exhibit, (b) the food items their children prefer, (c) the relationship of feeding problems to family eating preferences, and (d) the relationship of the diagnostic characteristics of autism to feeding behavior. Results indicated that the children preferred fewer types of food items within groups than their families; however, family food preferences appeared to influence food selection more than the diagnostic characteristics of autism.

REVIEW OF SCHREIBMAN'S THE SCIENCE AND FICTION OF AUTISM

PubMed Central

LeBlanc, Linda A; Losowski-Sullivan, Sheryl; Riley, Andrew R

2010-01-01

Although the awareness of autism in the general public has increased significantly over the past 20 years, much of the widely disseminated information is not fully grounded in scientific fact. In The Science and Fiction of Autism (2005), Laura Schreibman addresses a series of debates and controversies in areas ranging from diagnostic practices and etiological theories to effective clinical practices. This book provides an overview of the field of autism that is suitable for well-educated parents and new professionals in the field.

The Structure of Autism Symptoms as Measured by the Autism Diagnostic Observation Schedule

ERIC Educational Resources Information Center

Norris, Megan; Lecavalier, Luc; Edwards, Michael C.

2012-01-01

The current study tested several competing models of the autism phenotype using data from modules 1 and 3 of the ADOS. Participants included individuals with ASDs aged 3-18 years (N = 1,409) from the AGRE database. Confirmatory factor analyses were performed on total samples and subsamples based on age and level of functioning. Three primary…

Theory of mind predicts severity level in autism.

PubMed

Hoogenhout, Michelle; Malcolm-Smith, Susan

2017-02-01

We investigated whether theory of mind skills can indicate autism spectrum disorder severity. In all, 62 children with autism spectrum disorder completed a developmentally sensitive theory of mind battery. We used intelligence quotient, Diagnostic and Statistical Manual of Mental Disorders (4th ed.) diagnosis and level of support needed as indicators of severity level. Using hierarchical cluster analysis, we found three distinct clusters of theory of mind ability: early-developing theory of mind (Cluster 1), false-belief reasoning (Cluster 2) and sophisticated theory of mind understanding (Cluster 3). The clusters corresponded to severe, moderate and mild autism spectrum disorder. As an indicator of level of support needed, cluster grouping predicted the type of school children attended. All Cluster 1 children attended autism-specific schools; Cluster 2 was divided between autism-specific and special needs schools and nearly all Cluster 3 children attended general special needs and mainstream schools. Assessing theory of mind skills can reliably discriminate severity levels within autism spectrum disorder.

The Relationship Between the Childhood Autism Rating Scale: Second Edition and Clinical Diagnosis Utilizing the DSM-IV-TR and the DSM-5.

PubMed

Dawkins, Tamara; Meyer, Allison T; Van Bourgondien, Mary E

2016-10-01

The Childhood Autism Rating Scale, Second Edition (CARS2; 2010) includes two rating scales; the CARS2-Standard Version (CARS2-ST) and the newly developed CARS2-High Functioning Version (CARS2-HF). To assess the diagnostic agreement between the CARS2 and DSM-IV-TR versus DSM-5 criteria for Autism Spectrum Disorder (ASD), clinicians at community based centers of the University of North Carolina TEACCH Autism Program rated participants seen for a diagnostic evaluation on symptoms of autism using both the DSM-IV-TR and DSM-5 criteria and either the CARS2-HF or the CARS2-ST. Findings suggest that overall, the diagnostic agreement of the CARS2 remains high across DSM-IV and DSM-5 criteria for autism.

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

PubMed Central

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 < 0.001), ensuring that these can be a similarly valid part of the ASD phenotype in both Asian and Western populations. Conclusions: Despite myths, biases, and stereotypes about Asian social behavior, Asians (at least 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

Construction of novel Saccharomyces cerevisiae strains for bioethanol active dry yeast (ADY) production.

PubMed

Zheng, Daoqiong; Zhang, Ke; Gao, Kehui; Liu, Zewei; Zhang, Xing; Li, Ou; Sun, Jianguo; Zhang, Xiaoyang; Du, Fengguang; Sun, Peiyong; Qu, Aimin; Wu, Xuechang

2013-01-01

The application of active dry yeast (ADY) in bioethanol production simplifies operation processes and reduces the risk of bacterial contamination. In the present study, we constructed a novel ADY strain with improved stress tolerance and ethanol fermentation performances under stressful conditions. The industrial Saccharomyces cerevisiae strain ZTW1 showed excellent properties and thus subjected to a modified whole-genome shuffling (WGS) process to improve its ethanol titer, proliferation capability, and multiple stress tolerance for ADY production. The best-performing mutant, Z3-86, was obtained after three rounds of WGS, producing 4.4% more ethanol and retaining 2.15-fold higher viability than ZTW1 after drying. Proteomics and physiological analyses indicated that the altered expression patterns of genes involved in protein metabolism, plasma membrane composition, trehalose metabolism, and oxidative responses contribute to the trait improvement of Z3-86. This work not only successfully developed a novel S. cerevisiae mutant for application in commercial bioethanol production, but also enriched the current understanding of how WGS improves the complex traits of microbes.

Construction of Novel Saccharomyces cerevisiae Strains for Bioethanol Active Dry Yeast (ADY) Production

PubMed Central

Gao, Kehui; Liu, Zewei; Zhang, Xing; Li, Ou; Sun, Jianguo; Zhang, Xiaoyang; Du, Fengguang; Sun, Peiyong; Qu, Aimin; Wu, Xuechang

2013-01-01

The application of active dry yeast (ADY) in bioethanol production simplifies operation processes and reduces the risk of bacterial contamination. In the present study, we constructed a novel ADY strain with improved stress tolerance and ethanol fermentation performances under stressful conditions. The industrial Saccharomyces cerevisiae strain ZTW1 showed excellent properties and thus subjected to a modified whole-genome shuffling (WGS) process to improve its ethanol titer, proliferation capability, and multiple stress tolerance for ADY production. The best-performing mutant, Z3-86, was obtained after three rounds of WGS, producing 4.4% more ethanol and retaining 2.15-fold higher viability than ZTW1 after drying. Proteomics and physiological analyses indicated that the altered expression patterns of genes involved in protein metabolism, plasma membrane composition, trehalose metabolism, and oxidative responses contribute to the trait improvement of Z3-86. This work not only successfully developed a novel S. cerevisiae mutant for application in commercial bioethanol production, but also enriched the current understanding of how WGS improves the complex traits of microbes. PMID:24376860

Autism according to diagnostic and statistical manual of mental disorders 5(th) edition: The need for further improvements.

PubMed

Posar, Annio; Resca, Federica; Visconti, Paola

2015-01-01

The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) introduced significant changes in the classification of autism spectrum disorders (ASD), including the abolition of the diagnostic subcategories proposed by DSM-IV-Text Revision. DSM-5 describes three levels of increasing severity of ASD. The authors report two explanatory cases with ASD (verbal boys, aged about 7 and a half years, without intellectual disability). According to DSM-5, both cases fall into the lowest severity level of ASD. However, their neuropsychological and neurobehavioral profile varies significantly. While the first boy showed a prevalent impairment of visuoconstructional and visuoperceptual abilities, the second one presented a predominant involvement of verbal functions, with qualitative impairments in communication. A further step forward in the definition and classification of ASD, taking into account both intensity and quality of symptoms, is recommended in order to formulate a reliable prognosis, plan an individualized treatment and monitor the clinical course over time.

[Current status of autism studies].

PubMed

Kurita, H

2001-01-01

The current status of autism studies was reviewed based on English articles published during the 1990s. Although the concepts of autism and pervasive developmental disorders (PDD) are established, diagnostic criteria of PDDNOS or atypical autism, which is frequently difficult to differentiate from autism, need to be established. The prevalence of autism has been estimated as about 0.05% in the U.S and many European countries, while it was reported to be 0.1% or higher in Japan and some European countries, though the reasons for this difference are unclear. High-functioning (IQ > or = 70) autism may not be as rare a condition as previously thought and both its difference from and similarity to Asperger's syndrome, the highest functioning PDD subtype, need clarification. About 20 to 40% of children with autism lose meaningful words by the age of 2 years and display autistic symptoms thereafter. Such autism, called the setback type in Japan, has been demonstrated to have a poorer adolescent/adult outcome compared to autism without setback and its relationship with childhood disintegrative disorder, which displays a clearer regression after normal development for at least the first 2 years of life, needs to be addressed. The etiology of autism is now considered mostly genetic for reasons, such as the significantly higher concordance rate of autism in identical twin pairs (60-80%) than in fraternal twin pairs (0-10%) and an 3-5% incidence of autism among sibs of an autism proband, 30 to 100 times higher than that in the general population. The involvement of several genes is implicated to create susceptibility for autism, yet the responsible genes have not been identified. Although there is no medication to cure autism, some psychotropic drugs, such as antipsychotics and SSRIs, seem effective for behavior problems in autism patients. Psychosocial treatments are the main therapeutic approach to autism, though they are yet to be well systematized. It is important to

Gamma-band abnormalities as markers of autism spectrum disorders

PubMed Central

Rojas, Donald C.; Wilson, Lisa B.

2014-01-01

Summary Autism is a behaviorally diagnosed neurodevelopmental disorder with no current biomarkers with high specificity and sensitivity. Gamma-band abnormalities have been reported in many studies of autism spectrum disorders. Gamma-band activity is associated with perceptual and cognitive functions that are compromised in autism. Some gamma-band deficits have also been seen in unaffected first-degree relatives, suggesting heritability of these findings. This review covers the published literature on gamma abnormalities in autism, the proposed mechanisms underlying the deficits, and the potential for translation into new treatments. Although the utility of gamma-band metrics as diagnostic biomarkers is currently limited, such changes in autism are also useful as endophenotypes, for evaluating potential neural mechanisms, and for use as surrogate markers of treatment response to interventions. PMID:24712425

Factors influencing the probability of a diagnosis of autism spectrum disorder in girls versus boys.

PubMed

Duvekot, Jorieke; van der Ende, Jan; Verhulst, Frank C; Slappendel, Geerte; van Daalen, Emma; Maras, Athanasios; Greaves-Lord, Kirstin

2017-08-01

In order to shed more light on why referred girls are less likely to be diagnosed with autism spectrum disorder than boys, this study examined whether behavioral characteristics influence the probability of an autism spectrum disorder diagnosis differently in girls versus boys derived from a multicenter sample of consecutively referred children aged 2.5-10 years. Based on information from the short version of the Developmental, Dimensional and Diagnostic Interview and the Autism Diagnostic Observation Schedule, 130 children (106 boys and 24 girls) received a diagnosis of autism spectrum disorder according to Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.) criteria and 101 children (61 boys and 40 girls) did not. Higher overall levels of parent-reported repetitive and restricted behavior symptoms were less predictive of an autism spectrum disorder diagnosis in girls than in boys (odds ratio interaction = 0.41, 95% confidence interval = 0.18-0.92, p = 0.03). In contrast, higher overall levels of parent-reported emotional and behavioral problems increased the probability of an autism spectrum disorder diagnosis more in girls than in boys (odds ratio interaction = 2.44, 95% confidence interval = 1.13-5.29, p = 0.02). No differences were found between girls and boys in the prediction of an autism spectrum disorder diagnosis by overall autistic impairment, sensory symptoms, and cognitive functioning. These findings provide insight into possible explanations for the assumed underidentification of autism spectrum disorder in girls in the clinic.

Toward Brief "Red Flags" for Autism Screening: The Short Autism Spectrum Quotient and the Short Quantitative Checklist in 1,000 Cases and 3,000 Controls

ERIC Educational Resources Information Center

Allison, Carrie; Auyeung, Bonnie; Baron-Cohen, Simon

2012-01-01

Objective: Frontline health professionals need a "red flag" tool to aid their decision making about whether to make a referral for a full diagnostic assessment for an autism spectrum condition (ASC) in children and adults. The aim was to identify 10 items on the Autism Spectrum Quotient (AQ) (Adult, Adolescent, and Child versions) and on…

Epilepsy and Autism: Is there a special relationship?

PubMed Central

Berg, Anne T.; Plioplys, Sigita

2012-01-01

Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the early-onset developmental encephalopathic epilepsies is frequently cited as evidence of the relationship between autism and epilepsy. While these specific forms of epilepsy carry a higher than expected risk of autism, most if not all of the association may be due to intellectual disability (ID). The high prevalence of interictal EEG discharges in children with autism is also cited as further evidence although errors in the diagnosis of epilepsy seem to account for at least part of those findings. The prevalence of ID is substantially elevated in children with either epilepsy or autism. In the absence of ID, there is little evidence of a substantial, if any, increased risk of autism in children with epilepsy. Further, although the reported prevalence of autism has increased over the last several years, much of this increase may be attributable to changes in diagnostic practices, conceptualization of autism in the presence of ID, and laws requiring provision of services for children with autism. In the context of these temporal trends, any further efforts to tease apart the relationships between epilepsy, ID, and autism will have to address head-on the accuracy of diagnosis of all three conditions before we can determine whether there is indeed a special relationship between autism and epilepsy. PMID:22381386

Autism, Alzheimer disease, and fragile X

PubMed Central

Sokol, D.K.; Maloney, B.; Long, J.M.; Ray, B.

2011-01-01

The present review highlights an association between autism, Alzheimer disease (AD), and fragile X syndrome (FXS). We propose a conceptual framework involving the amyloid-β peptide (Aβ), Aβ precursor protein (APP), and fragile X mental retardation protein (FMRP) based on experimental evidence. The anabolic (growth-promoting) effect of the secreted α form of the amyloid-β precursor protein (sAPPα) may contribute to the state of brain overgrowth implicated in autism and FXS. Our previous report demonstrated that higher plasma sAPPα levels associate with more severe symptoms of autism, including aggression. This molecular effect could contribute to intellectual disability due to repression of cell–cell adhesion, promotion of dense, long, thin dendritic spines, and the potential for disorganized brain structure as a result of disrupted neurogenesis and migration. At the molecular level, APP and FMRP are linked via the metabotropic glutamate receptor 5 (mGluR5). Specifically, mGluR5 activation releases FMRP repression of APP mRNA translation and stimulates sAPP secretion. The relatively lower sAPPα level in AD may contribute to AD symptoms that significantly contrast with those of FXS and autism. Low sAPPα and production of insoluble Aβ would favor a degenerative process, with the brain atrophy seen in AD. Treatment with mGluR antagonists may help repress APP mRNA translation and reduce secretion of sAPP in FXS and perhaps autism. PMID:21482951

Outcomes in adult life among siblings of individuals with autism.

PubMed

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

2015-03-01

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 adults, all scored within the average range on tests of intelligence, numeracy and literacy. "Unaffected" siblings were functioning well in terms of jobs, independence and social relationships. Levels of social relationships and employment were significantly lower in the BAP group; autism traits and mental health problems were significantly higher. The data suggest that the "broader autism phenotype" is a meaningful concept but more sensitive diagnostic measures are required.

Personality Pathology of Adults With Autism Spectrum Disorder Without Accompanying Intellectual Impairment in Comparison to Adults With Personality Disorders.

PubMed

Strunz, Sandra; Westphal, Linda; Ritter, Kathrin; Heuser, Isabella; Dziobek, Isabel; Roepke, Stefan

2015-12-01

Differentiating autism spectrum disorders (ASDs) without accompanying intellectual impairment from personality disorders is often challenging. Identifying personality traits and personality pathology specific to ASD might facilitate diagnostic procedure. We recruited a sample of 59 adults with ASD without accompanying intellectual impairment, 62 individuals with narcissistic personality disorder, 80 individuals with borderline personality disorder, and 106 nonclinical controls. Personality traits, measured with the neo-personality inventory-revised (NEO-PI-R), and personality pathology, measured with the dimensional assessment of personality pathology (DAPP-BQ), were assessed. Personality traits and personality pathology specific to ASD could be identified. ASD individuals scored significantly lower on the NEO-PI-R scales extraversion and openness to experience and significantly higher on the DAPP-BQ scales inhibitedness and compulsivity relative to all other groups. Diagnostic implications are discussed.

Autism as a disorder of prediction

PubMed Central

Sinha, Pawan; Kjelgaard, Margaret M.; Gandhi, Tapan K.; Tsourides, Kleovoulos; Cardinaux, Annie L.; Pantazis, Dimitrios; Diamond, Sidney P.; Held, Richard M.

2014-01-01

A rich collection of empirical findings accumulated over the past three decades attests to the diversity of traits that constitute the autism phenotypes. It is unclear whether subsets of these traits share any underlying causality. This lack of a cohesive conceptualization of the disorder has complicated the search for broadly effective therapies, diagnostic markers, and neural/genetic correlates. In this paper, we describe how theoretical considerations and a review of empirical data lead to the hypothesis that some salient aspects of the autism phenotype may be manifestations of an underlying impairment in predictive abilities. With compromised prediction skills, an individual with autism inhabits a seemingly “magical” world wherein events occur unexpectedly and without cause. Immersion in such a capricious environment can prove overwhelming and compromise one’s ability to effectively interact with it. If validated, this hypothesis has the potential of providing unifying insights into multiple aspects of autism, with attendant benefits for improving diagnosis and therapy. PMID:25288765

"On the Sidelines": Access to Autism-Related Services in the West Bank

ERIC Educational Resources Information Center

Dababnah, Sarah; Bulson, Kathleen

2015-01-01

We examined access to autism-related services among Palestinians (N = 24) raising children with autism spectrum disorder (ASD) in the West Bank. Using qualitative methods, we identified five primary interview themes. Poor screening, diagnostic, and psychoeducational practices were prevalent, as parents reported service providers minimized parental…

Relationship Satisfaction, Parenting Stress, and Depression in Mothers of Children with Autism

ERIC Educational Resources Information Center

Weitlauf, Amy S.; Vehorn, Alison C.; Taylor, Julie L.; Warren, Zachary E.

2014-01-01

Mothers of children with autism report higher levels of depression than mothers of children with other developmental disabilities. We explored the relations between child characteristics of diagnostic severity and problem behaviors, parenting stress, relationship quality, and depressive symptoms in 70 mothers of young children with autism. We…

Cultural Adaptation and Translation of Outreach Materials on Autism Spectrum Disorder

ERIC Educational Resources Information Center

Grinker, Roy R.; Kang-Yi, Christina D.; Ahmann, Chloe; Beidas, Rinad S.; Lagman, Adrienne; Mandell, David S.

2015-01-01

In order to connect with families and influence treatment trajectories, outreach materials should address cultural perceptions of the condition, its causes, and post-diagnostic care. This paper describes the cultural adaptation and translation of the Autism Speaks First 100 Days Kit into Korean for the purpose of improving autism spectrum disorder…

Diagnoses of Autism Spectrum Disorders in Germany: Time Trends in Administrative Prevalence and Diagnostic Stability

ERIC Educational Resources Information Center

Bachmann, Christian J.; Gerste, Bettina; Hoffmann, Falk

2018-01-01

For Germany, no data on trends in autism spectrum disorder diagnoses are available. The primary aim of this study was to establish the time trends in the administrative prevalence of autism spectrum disorder diagnoses. The second aim was to assess the stability of autism spectrum disorder diagnoses over time. We analysed administrative outpatient…

Birth order effects on autism symptom domains.

PubMed

Reichenberg, Abraham; Smith, Christopher; Schmeidler, James; Silverman, Jeremy M

2007-03-30

Autism is predominantly genetically determined. Evidence supports familiality of the main sets of behavioral characteristics that define the syndrome of autism; however, possible non-genetic effects have also been suggested. The present study compared levels of autism symptom domains, as measured by the Autism Diagnostic Interview, and useful phrase speech scores between 106 pairs of first- and second-born siblings from multiply affected families. In addition, the intercorrelations between the measures were compared between siblings. The overall mean repetitive behavior total score was significantly higher (worse) in first-born than in second-born siblings. In contrast, first-born siblings had significantly lower (better) useful phrase speech than their younger siblings. Autism social and non-verbal communication scores were significantly correlated in first- and in second-born siblings. However, there was a significant difference in the coefficients between first- and second-born siblings. Performance on the non-verbal communication domain was also significantly and positively correlated with useful phrase speech score in both first- and second-born siblings. It is unclear at this time whether these results are of biologic origin. Nevertheless, the findings suggest that genetic studies in autism using specific levels of familial autism traits as phenotypes should take into account their intercorrelations and birth order effects embedded in the instrument.

Diagnostic Efficiency of easyCBM[R] Math: Washington State. Technical Report #1008

ERIC Educational Resources Information Center

Anderson, Daniel; Alonzo, Julie; Tindal, Gerald

2010-01-01

easyCBM[R] is an online benchmark and progress monitoring assessment system designed for use within a response to intervention framework. Educators using easyCBM[R] are often interested in using the results to predict students' state test performance. In the following technical document, we report diagnostic efficiency statistics using a sample…

GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism

PubMed Central

Fatemi, S. Hossein; Folsom, Timothy D.

2016-01-01

Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the brain. GABAergic receptor abnormalities have been documented in several major psychiatric disorders including schizophrenia, mood disorders, and autism. Abnormal expression of mRNA and protein for multiple GABA receptors has also been observed in multiple brain regions leading to alterations in the balance between excitatory/inhibitory signaling in the brain with potential profound consequences for normal cognition and maintenance of mood and perception. Altered expression of GABAA receptor subunits has been documented in Fragile X mental retardation 1 (FMR1) knockout mice, suggesting that loss of its protein product, fragile X mental retardation protein (FMRP), impacts GABAA subunit expression. Recent postmortem studies from our laboratory have shown reduced expression of FMRP in brains of subjects with schizophrenia, bipolar disorder, major depression, and autism. FMRP acts as a translational repressor and, under normal conditions, inhibits metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. In fragile X syndrome (FXS), absence of FMRP is hypothesized to lead to unregulated mGluR5 signaling, ultimately resulting in the behavioral and intellectual impairments associated with this disorder. Our laboratory has identified changes in mGluR5 expression in autism, schizophrenia, and mood disorders. In the current review article, we discuss our postmortem data on GABA receptors, FMRP, and mGluR5 levels and compare our results with other laboratories. Finally, we discuss the interactions between these molecules and the potential for new therapeutic interventions that target these interconnected signaling systems. PMID:25432637

GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism.

PubMed

Fatemi, S Hossein; Folsom, Timothy D

2015-09-01

Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the brain. GABAergic receptor abnormalities have been documented in several major psychiatric disorders including schizophrenia, mood disorders, and autism. Abnormal expression of mRNA and protein for multiple GABA receptors has also been observed in multiple brain regions leading to alterations in the balance between excitatory/inhibitory signaling in the brain with potential profound consequences for normal cognition and maintenance of mood and perception. Altered expression of GABAA receptor subunits has been documented in fragile X mental retardation 1 (FMR1) knockout mice, suggesting that loss of its protein product, fragile X mental retardation protein (FMRP), impacts GABAA subunit expression. Recent postmortem studies from our laboratory have shown reduced expression of FMRP in the brains of subjects with schizophrenia, bipolar disorder, major depression, and autism. FMRP acts as a translational repressor and, under normal conditions, inhibits metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. In fragile X syndrome (FXS), the absence of FMRP is hypothesized to lead to unregulated mGluR5 signaling, ultimately resulting in the behavioral and intellectual impairments associated with this disorder. Our laboratory has identified changes in mGluR5 expression in autism, schizophrenia, and mood disorders. In the current review article, we discuss our postmortem data on GABA receptors, FMRP, and mGluR5 levels and compare our results with other laboratories. Finally, we discuss the interactions between these molecules and the potential for new therapeutic interventions that target these interconnected signaling systems. Copyright © 2014 Elsevier B.V. All rights reserved.

Visual impairment and traits of autism in children.

PubMed

Wrzesińska, Magdalena; Kapias, Joanna; Nowakowska-Domagała, Katarzyna; Kocur, Józef

2017-04-30

Visual impairment present from birth or from an early childhood may lead to psychosocial and emotional disorders. 11-40% of children in the group with visual impairment show traits of autism. The aim of this paper was to present the selected examples of how visual impairment in children is related to the occurrence of autism and to describe the available tools for diagnosing autism in children with visual impairment. So far the relation between visual impairment in children and autism has not been sufficiently confirmed. Psychiatric and psychological diagnosis of children with visual impairment has some difficulties in differentiating between "blindism" and traits typical for autism resulting from a lack of standardized diagnostic tools used to diagnosing children with visual impairment. Another difficulty in diagnosing autism in children with visual impairment is the coexistence of other disabilities in case of most children with vision impairment. Additionally, apart from difficulties in diagnosing autistic disorders in children with eye dysfunctions there is also a question of what tools should be used in therapy and rehabilitation of patients.

Atypical basic movement kinematics in autism spectrum conditions

PubMed Central

Blakemore, Sarah-Jayne; Press, Clare

2013-01-01

Individuals with autism spectrum conditions have difficulties in understanding and responding appropriately to others. Additionally, they demonstrate impaired perception of biological motion and problems with motor control. Here we investigated whether individuals with autism move with an atypical kinematic profile, which might help to explain perceptual and motor impairments, and in principle may contribute to some of their higher level social problems. We recorded trajectory, velocity, acceleration and jerk while adult participants with autism and a matched control group conducted horizontal sinusoidal arm movements. Additionally, participants with autism took part in a biological motion perception task in which they classified observed movements as ‘natural’ or ‘unnatural’. Results show that individuals with autism moved with atypical kinematics; they did not minimize jerk to the same extent as the matched typical control group, and moved with greater acceleration and velocity. The degree to which kinematics were atypical was correlated with a bias towards perceiving biological motion as ‘unnatural’ and with the severity of autism symptoms as measured by the Autism Diagnostic Observation Schedule. We suggest that fundamental differences in movement kinematics in autism might help to explain their problems with motor control. Additionally, developmental experience of their own atypical kinematic profiles may lead to disrupted perception of others’ actions. PMID:23983031

A New Interactive Screening Test for Autism Spectrum Disorders in Toddlers.

PubMed

Choueiri, Roula; Wagner, Sheldon

2015-08-01

To develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians. We describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RITA-T can be administered and scored in 10 minutes. We studied the validity of the RITA-T to distinguish between toddlers with ASD from toddlers with developmental delay (DD)/non-ASD in an early childhood clinic. We also evaluated the test's performance in toddlers with no developmental concerns. We identified a cutoff score based on sensitivity, specificity, and positive predictive value of the RITA-T that best differentiates between ASD and DD/non-ASD. A total of 61 toddlers were enrolled. RITA-T scores were correlated with ASD-specific diagnostic tools (r = 0.79; P < .01) and ASD clinical diagnoses (r = 0.77; P < .01). Mean scores were significantly different in subjects with ASD, those with DD/non-ASD, and those with no developmental concerns (20.8 vs 13 vs 10.6, respectively; P < .0001). At a cutoff score of >14 , the RITA-T had a sensitivity of 1.00, specificity of 0.84, and positive predictive value of 0.88 for identifying ASD risk in a high-risk group. The RITA-T is a promising new level 2 interactive screening tool for improving the early identification of ASD in toddlers in general pediatric and early intervention settings and allowing access to treatment. Copyright © 2015 Elsevier Inc. All rights reserved.

[Genetic analysis of the putative remains of general Władysław Sikorski].

PubMed

Kupiec, Tomasz; Branicki, Wojciech

2009-01-01

The paper presents results of genetic identification studies carried out in material collected during exhumation of the putative body of general Władysław Sikorski, buried in a sarcophagus in Saint Leonard's crypt in the Wawel Cathedral. The analysis of STR-type autosomal markers, Y-STR markers and sequences of HVI and HVII regions of mitochondrial DNA carried out in samples collected for genetic analysis--fragments of the thigh bone and a tooth--yielded a full set of results. The same mtDNA profile was also determined in hair revealed on the underpants and shirt secured from the studied body. The mitochondrial DNA profile determined in the bone material and also in the hair matched the profile characteristic for a female relative through the maternal line of general Władysław Sikorski. The obtained evidence supports the hypothesis that the studied body is that of general Sikorski. An additional analysis of position SNP rs12913832 located on the HERC2 gene revealed the presence of genotype C/C, which suggests that general Władysław Sikorski had light (most probably blue) eyes.

Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics

PubMed Central

Kazdoba, Tatiana M.; Leach, Prescott T.; Yang, Mu; Silverman, Jill L.; Solomon, Marjorie

2016-01-01

Animal models provide preclinical tools to investigate the causal role of genetic mutations and environmental factors in the etiology of autism spectrum disorder (ASD). Knockout and humanized knock-in mice, and more recently knockout rats, have been generated for many of the de novo single gene mutations and copy number variants (CNVs) detected in ASD and comorbid neurodevelopmental disorders. Mouse models incorporating genetic and environmental manipulations have been employed for preclinical testing of hypothesis-driven pharmacological targets, to begin to develop treatments for the diagnostic and associated symptoms of autism. In this review, we summarize rodent behavioral assays relevant to the core features of autism, preclinical and clinical evaluations of pharmacological interventions, and strategies to improve the translational value of rodent models of autism. PMID:27305922

Autism traits in individuals with agenesis of the corpus callosum

PubMed Central

Lau, Yolanda C.; Hinkley, Leighton B. N.; Bukshpun, Polina; Strominger, Zoe A.; Wakahiro, Mari L. J.; Baron-Cohen, Simon; Allison, Carrie; Auyeung, Bonnie; Jeremy, Rita J.; Nagarajan, Srikantan S.; Sherr, Elliott H.; Marco, Elysa J.

2013-01-01

Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45% of children, 35% of adolescents, and 18% of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well. PMID:23054201

An etiologic classification of autism spectrum disorders.

PubMed

Gabis, Lidia V; Pomeroy, John

2014-05-01

Autism spectrum disorders (ASD) represent a common phenotype related to multiple etiologies, such as genetic, brain injury (e.g., prematurity), environmental (e.g., viral, toxic), multiple or unknown causes. To devise a clinical classification of children diagnosed with ASD according to etiologic workup. Children diagnosed with ASD (n = 436) from two databases were divided into groups of symptomatic cryptogenic or idiopathic, and variables within each database and diagnostic category were compared. By analyzing the two separate databases, 5.4% of the children were classified as symptomatic, 27% as cryptogenic and 67.75% as idiopathic. Among other findings, the entire symptomatic group demonstrated language delays, but almost none showed evidence for regression. Our results indicate similarities between the idiopathic and cryptogenic subgroups in most of the examined variables, and mutual differences from the symptomatic subgroup. The similarities between the first two subgroups support prior evidence that most perinatal factors and minor physical anomalies do not contribute to the development of core symptoms of autism. Differences in gender and clinical and diagnostic features were found when etiology was used to create subtypes of ASD. This classification could have heuristic importance in the search for an autism gene(s).

Neurofeedback in autism spectrum disorders.

PubMed

Holtmann, Martin; Steiner, Sabina; Hohmann, Sarah; Poustka, Luise; Banaschewski, Tobias; Bölte, Sven

2011-11-01

To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD). Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: 'Neurofeedback' OR 'EEG Biofeedback' OR 'Neurotherapy' OR 'Mu-Rhythm' OR 'SMR' AND 'Autism' OR 'Autism Spectrum Disorder' OR 'Pervasive Developmental Disorder'. The existing evidence does not support the use of neurofeedback in the treatment of ASD. Studies with outcomes in favour of neurofeedback might be showing an improvement in comorbid attention-deficit-hyperactivity disorder symptoms rather than a true improvement in core ASD symptoms. Limitations of this review are those inherent in the studies available, including small sample size, short duration, variable diagnostic criteria, and insufficient control interventions, all causing a lack of generalizability. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

Qualitative or Quantitative Differences between Asperger's Disorder and Autism? Historical Considerations

ERIC Educational Resources Information Center

Sanders, James Ladell

2009-01-01

The histories of autism and Asperger's Disorder (AD), based on original contributions by Kanner and Asperger, are reviewed in relation to DSM-IV diagnostic criteria. Their original articles appear to have influenced the distinction between AD and autism made in the DSM-IV. Based on up-to-date empirical research, however, it appears that AD and…

Attenuation of Typical Sex Differences in 800 Adults with Autism vs. 3,900 Controls

PubMed Central

Baron-Cohen, Simon; Cassidy, Sarah; Auyeung, Bonnie; Allison, Carrie; Achoukhi, Maryam; Robertson, Sarah; Pohl, Alexa; Lai, Meng-Chuan

2014-01-01

Sex differences have been reported in autistic traits and systemizing (male advantage), and empathizing (female advantage) among typically developing individuals. In individuals with autism, these cognitive-behavioural profiles correspond to predictions from the “extreme male brain” (EMB) theory of autism (extreme scores on autistic traits and systemizing, below average on empathizing). Sex differences within autism, however, have been under-investigated. Here we show in 811 adults (454 females) with autism and 3,906 age-matched typical control adults (2,562 females) who completed the Empathy Quotient (EQ), the Systemizing Quotient-Revised (SQ-R), and the Autism Spectrum Quotient (AQ), that typical females on average scored higher on the EQ, typical males scored higher on the SQ-R and AQ, and both males and females with autism showed a shift toward the extreme of the “male profile” on these measures and in the distribution of “brain types” (the discrepancy between standardized EQ and SQ-R scores). Further, normative sex differences are attenuated but not abolished in adults with autism. The findings provide strong support for the EMB theory of autism, and highlight differences between males and females with autism. PMID:25029203

Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system

PubMed Central

Ulbrich, Lisa; Favaloro, Flores Lietta; Trobiani, Laura; Marchetti, Valentina; Patel, Vruti; Pascucci, Tiziana; Comoletti, Davide; Marciniak, Stefan J.; De Jaco, Antonella

2015-01-01

Several forms of monogenic heritable autism spectrum disorders are associated with mutations in the neuroligin genes. The autism-linked substitution R451C in neuroligin3 induces local misfolding of its extracellular domain, causing partial retention in the ER (endoplasmic reticulum) of expressing cells. We have generated a PC12 Tet-On cell model system with inducible expression of wild-type or R451C neuroligin3 to investigate whether there is activation of the UPR (unfolded protein response) as a result of misfolded protein retention. As a positive control for protein misfolding, we also expressed the mutant G221R neuroligin3, which is known to be completely retained within the ER. Our data show that overexpression of either R451C or G221R mutant proteins leads to the activation of all three signalling branches of the UPR downstream of the stress sensors ATF6 (activating transcription factor 6), IRE1 (inositol-requiring enzyme 1) and PERK [PKR (dsRNA-dependent protein kinase)-like endoplasmic reticulum kinase]. Each branch displayed different activation profiles that partially correlated with the degree of misfolding caused by each mutation. We also show that up-regulation of BiP (immunoglobulin heavy-chain-binding protein) and CHOP [C/EBP (CCAAT/enhancer-binding protein)-homologous protein] was induced by both mutant proteins but not by wild-type neuroligin3, both in proliferative cells and cells differentiated to a neuron-like phenotype. Collectively, our data show that mutant R451C neuroligin3 activates the UPR in a novel cell model system, suggesting that this cellular response may have a role in monogenic forms of autism characterized by misfolding mutations. PMID:26621873

Social and Communication Abilities and Disabilities in Higher Functioning Individuals with Autism Spectrum Disorders: The Vineland and the ADOS

ERIC Educational Resources Information Center

Klin, Ami; Saulnier, Celine A.; Sparrow, Sara S.; Cicchetti, Domenic V.; Volkmar, Fred R.; Lord, Catherine

2007-01-01

The relationship between adaptive functioning ("ability") and autism symptomatology ("disability") remains unclear, especially for higher functioning individuals with autism spectrum disorder (ASD). This study investigates "ability" and "disability" using the "Vineland" and "Autism Diagnostic Observation Schedule" (ADOS), respectively, in two…

[Autism spectrum disorders in adulthood: clinical and neuropsychological findings of Aspergers syndrome diagnosed late in life].

PubMed

Lehnhardt, F-G; Gawronski, A; Volpert, K; Schilbach, L; Tepest, R; Huff, W; Vogeley, K

2011-05-01

High-functioning autism (HFA) and Aspergers syndrome (AS) are autism spectrum disorders (ASD) characterised by disturbances in social interaction, both verbal and non-verbal communication and repetitive and/or restrictive behaviour since early childhood. Symptoms appear generally during early childhood and adolescence. The increasing need to clarify diagnostic queries in advanced age led to the constitution of specialised outpatient clinics for adults involving a growing amount of HFA/AS subjects diagnosed late in life. However, thus far neuropsychological data about this group are scarce. We present a subgroup of 39 patients with HFA/AS (mean age at diagnosis 31.1 ± 8.9 years) who were consecutively diagnosed at the autism outpatient clinic at the Department of Psychiatry at the University Hospital Cologne. Autistic symptoms (autism spectrum quotient; AQ), depressive symptoms (Beck depression inventory; BDI), general intelligence (HAWIE-R), social cognition ("theory of mind", ToM) and executive functioning (COWAT) were systematically studied in comparison to a control group matched for age, education, gender and intelligence (n = 39). HFA/AS subjects presented higher AQ scores (40.4 ± 5.2) as opposed to the healthy controls (13.5 ± 4.8). Neuropsychologically, patients showed deficits in social cognition, executive functions and in subtests of HAWIE-R related to verbal comprehension and perceptual organisation as opposed to the healthy control group. The diagnosis of autistic disorders in adulthood basically relies on the clinical assessment of autistic core symptoms which were corroborated by high AQ values. The self-rating instrument AQ was found to be highly discriminative between the HFA/AS group and the healthy control group. The neuropsychological profile of adult HFA/AS patients diagnosed late in life is compatible with that of previously investigated HFA/AS populations. These findings show that such basic autism-associated deficits persist until

One-step leapfrog ADI-FDTD method for simulating electromagnetic wave propagation in general dispersive media.

PubMed

Wang, Xiang-Hua; Yin, Wen-Yan; Chen, Zhi Zhang David

2013-09-09

The one-step leapfrog alternating-direction-implicit finite-difference time-domain (ADI-FDTD) method is reformulated for simulating general electrically dispersive media. It models material dispersive properties with equivalent polarization currents. These currents are then solved with the auxiliary differential equation (ADE) and then incorporated into the one-step leapfrog ADI-FDTD method. The final equations are presented in the form similar to that of the conventional FDTD method but with second-order perturbation. The adapted method is then applied to characterize (a) electromagnetic wave propagation in a rectangular waveguide loaded with a magnetized plasma slab, (b) transmission coefficient of a plane wave normally incident on a monolayer graphene sheet biased by a magnetostatic field, and (c) surface plasmon polaritons (SPPs) propagation along a monolayer graphene sheet biased by an electrostatic field. The numerical results verify the stability, accuracy and computational efficiency of the proposed one-step leapfrog ADI-FDTD algorithm in comparison with analytical results and the results obtained with the other methods.

Recent advances in autism research as reflected in DSM-5 criteria for autism spectrum disorder.

PubMed

Lord, Catherine; Bishop, Somer L

2015-01-01

This article provides a selective review of advances in scientific knowledge about autism spectrum disorder (ASD), using DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, fifth edition) diagnostic criteria as a framework for the discussion. We review literature that prompted changes to the organization of ASD symptoms and diagnostic subtypes in DSM-IV, and we examine the rationale for new DSM-5 specifiers, modifiers, and severity ratings as well as the introduction of the diagnosis of social (pragmatic) communication disorder. Our goal is to summarize and critically consider the contribution of clinical psychology research, along with that of other disciplines, to the current conceptualization of ASD.

Inflectional morphology in high-functioning autism: Evidence for speeded grammatical processing

PubMed Central

Walenski, Matthew; Mostofsky, Stewart H.; Ullman, Michael T.

2014-01-01

Autism is characterized by language and communication deficits. We investigated grammatical and lexical processes in high-functioning autism by contrasting the production of regular and irregular past-tense forms. Boys with autism and typically-developing control boys did not differ in accuracy or error rates. However, boys with autism were significantly faster than controls at producing rule-governed past-tenses (slip-slipped, plim-plimmed, bring-bringed), though not lexically-dependent past-tenses (bring-brought, squeeze-squeezed, splim-splam). This pattern mirrors previous findings from Tourette syndrome attributed to abnormalities of frontal/basal-ganglia circuits that underlie grammar. We suggest a similar abnormality underlying language in autism. Importantly, even when children with autism show apparently normal language (e.g., in accuracy or with diagnostic instruments), processes and/or brain structures subserving language may be atypical in the disorder. PMID:25342962

Follow-up of children with language delay and features of autism from preschool years to middle childhood.

PubMed

Michelotti, Janine; Charman, Tony; Slonims, Vicky; Baird, Gillian

2002-12-01

Eighteen children (13 males, five females) who had severe developmental language delay/disorder and some features of autism (although insufficient in severity and combination to meet ICD-10 diagnostic criteria for childhood autism) at preschool age (Time 1; mean age 4 years 4 months) were followed up 4 years later (Time 2; mean age 8 years 7 months). At the initial assessment the diagnostic dilemma was how much the social communication impairments and behavioural problems were secondary to the language problem and how much they constituted a genuine case of a pervasive developmental disorder. It was anticipated that at follow-up some children would continue to show social impairments but that in others social impairments would have receded as language competence improved. Follow-up assessments included the Wechsler Intelligence Scale for Children, the Clinical Evaluation of Language Fundamentals, the Children's Communication Checklist, and the Social Communication Questionnaire. At follow-up, five children had continuing language disorder and were considered to fulfil diagnostic criteria for childhood autism, four children had continuing language disorder and met criteria for atypical autism, and nine met criteria for atypical autism but had somewhat recovered language skills. Thus, even in the subgroup of children whose language ability had improved the features of autism had not dissipated. Severity of social communication impairments and repetitive behaviours at Time 1, rated retrospectively from case notes, were associated with severity of autism symptoms and pragmatic competence at Time 2. The findings are discussed in relation to the unclear boundary between autism spectrum disorders and language delay/disorder.

The mental health of individuals referred for assessment of autism spectrum disorder in adulthood: A clinic report.

PubMed

Russell, Ailsa J; Murphy, Clodagh M; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M; Craig, Michael C; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M; Spain, Deborah; Murphy, Declan Gm

2016-07-01

Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis. © The Author(s) 2015.

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).

PubMed

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.

Autism spectrum disorder profile in neurofibromatosis type I.

PubMed

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.

The diagnostic effect of serum miR-196b as biomarker in colorectal cancer

PubMed Central

Xu, Chunjie; Gu, Lei

2017-01-01

The microRNA, miR-196b, serves a role in normal cell differentiation, proliferation and tumorigenesis of different types of cancer. The aim of the present study was to explore the serum expression of miR-196b in colorectal cancer (CRC) and its correlation with clinicopathological features. Sera samples were obtained from 103 patients with CRC, 51 patients with colorectal adenoma (Ad) and 100 healthy individuals for the present study. The serum expression of miR-196b in sera samples of the three cohorts was detected using reverse transcription-quantitative polymerase chain reaction. The diagnostic value of miR-196b in the serum of the patients with CRC was evaluated by receiver operating characteristic (ROC) curve and survival analysis, using the Kaplan-Meier method, which was performed with the data from a 5-year follow-up. The expression of miR-196b in the serum of patients with CRC was significantly higher compared with that in Ad patients or healthy individuals (all P<0.001), and the overexpression of serum miR-196b was clearly associated with lymph node invasion, differentiation, and the tumor-lymph nodes-metastasis stage (all P<0.05). ROC curve analysis demonstrated that, comparing patients with CRC with healthy individuals, the area under the curve of serum miR-196b was 0.8135, and its specificity and sensitivity were 63 and 87.38%, respectively, at a diagnostic threshold of −4.785. Patients with CRC of miR-196b-high status had shorter overall survival and disease-free survival rates compared with those of miR-196b-low status. In conclusion, the results of the present study demonstrated that serum miR-196b is upregulated in CRC, and may have an application as a diagnostic and prognostic biomarker for patients with CRC. PMID:28123705

A survey of autism knowledge in a health care setting.

PubMed

Heidgerken, Amanda D; Geffken, Gary; Modi, Avani; Frakey, Laura

2005-06-01

The current study extends research by Stone [Cross-disciplinary perspectives on autism? Journal of Pediatric Psychology, 12, (1988) 615; A comparison of teacher and parent views of autism. Journal of Autism and Development Disorders, 18, (1988) 403] exploring the knowledge and beliefs about autism across multiple health care professions. One hundred and eleven CARD personnel (i.e., professional with the Center for Autism Related Disabilities, CARD), specialists (i.e., psychiatry, speech and language pathology, and clinical psychology), and primary health care providers (i.e., family practice, pediatrics, and neurology) completed a measure assessing knowledge of diagnostic criteria, course, treatment, and prognosis of autism. Results indicated that all three groups reflected accurate endorsement of the DSM-IV criteria. Primary health care providers and specialists were found to differentially endorse a variety of statements regarding prognosis, course, and treatment in comparison with CARD. Overall, primary providers demonstrated the greatest number of differences. Clinical implications and future recommendations are discussed.

Structural Equation Modeling Diagnostics Using R Package Semdiag and EQS

ERIC Educational Resources Information Center

Yuan, Ke-Hai; Zhang, Zhiyong

2012-01-01

Yuan and Hayashi (2010) introduced 2 scatter plots for model and data diagnostics in structural equation modeling (SEM). However, the generation of the plots requires in-depth understanding of their underlying technical details. This article develops and introduces an R package semdiag for easily drawing the 2 plots. With a model specified in EQS…

Predicting Improvement in Social-Communication Symptoms of Autism Spectrum Disorders Using Retrospective Treatment Data

ERIC Educational Resources Information Center

Mazurek, Micah O.; Kanne, Stephen M.; Miles, Judith H.

2012-01-01

Data from 1433 children and adolescents with autism spectrum disorders (ASD) participating in the Simons Simplex Collection were examined to (1) investigate change in social-communication symptoms, and (2) examine predictors of improvement, particularly community-based treatments. Measures included the "Autism Diagnostic Interview--Revised"…

The Role of Developmental Histories in the Screening and Diagnosis of Autism Spectrum Disorders.

ERIC Educational Resources Information Center

Plotts, Cindy; Webber, Jo

2002-01-01

This article discusses the importance of obtaining developmental history in the screening and diagnosis of autism spectrum disorders in children. Steps for obtaining developmental history are described and general guidelines are provided. Instruments for collecting developmental history and diagnostic indicators for autism spectrum disorders are…

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

ERIC Educational Resources Information Center

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…

Perception of Emotions from Facial Expressions in High-Functioning Adults with Autism

ERIC Educational Resources Information Center

Kennedy, Daniel P.; Adolphs, Ralph

2012-01-01

Impairment in social communication is one of the diagnostic hallmarks of autism spectrum disorders, and a large body of research has documented aspects of impaired social cognition in autism, both at the level of the processes and the neural structures involved. Yet one of the most common social communicative abilities in everyday life, the…

Oxytocin Treatment, Circuitry, and Autism: A Critical Review of the Literature Placing Oxytocin Into the Autism Context.

PubMed

Guastella, Adam J; Hickie, Ian B

2016-02-01

Observed impairment in reciprocal social interaction is a diagnostic hallmark of autism spectrum disorders. There is no effective medical treatment for these problems. Psychological treatments remain costly, time intensive, and developmentally sensitive for efficacy. In this review, we explore the potential of oxytocin-based therapies for social impairments in autism. Evidence shows that acute oxytocin administration improves numerous markers critical to the social circuitry underlying social deficits in autism. Oxytocin may optimize these circuits and enhance reward, motivation, and learning to improve therapeutic outcomes. Despite this, the current evidence of therapeutic benefit from extended oxytocin treatment remains very limited. We highlight complexity in crossing from the laboratory to the autism clinical setting in evaluation of this therapeutic. We discuss a clinical trial approach that provides optimal opportunity for therapeutic response by using personalized methods that better target specific circuitry to define who will obtain benefit, at what stage of development, and the optimal delivery approach for circuitry manipulation. For the autism field, the therapeutic challenges will be resolved by a range of treatment strategies, including greater focus on specific interventions, such as oxytocin, that have a strong basis in the fundamental neurobiology of social behavior. More sophisticated and targeted clinical trials utilizing such approaches are now required, placing oxytocin into the autism context. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

MINOR MALFORMATIONS AND PHYSICAL MEASURES IN AUTISM: DATA FROM NOVA SCOTIA. (R824758)

EPA Science Inventory

In the context of an epidemiological study of autism in Nova Scotia, subjects were evaluated for minor physical anomalies and physical measurements. Normal control children, children with autism and their siblings, and children with developmental disabilities and their siblings w...

Recent Advances in Understanding and Managing Autism Spectrum Disorders

PubMed Central

Germain, Blair; Eppinger, Melissa A.; Mostofsky, Stewart H.; DiCicco-Bloom, Emanuel; Maria, Bernard L.

2017-01-01

Autism spectrum disorder in children is a group of neurodevelopmental disorders characterized by difficulties with social communication and behavior. Growing scientific evidence in addition to clinical practice has led the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to categorize several disorders into the broader category of autism spectrum disorder. As more is learned about how autism spectrum disorder manifests, progress has been made toward better clinical management including earlier diagnosis, care, and when specific interventions are required. The 2014 Neurobiology of Disease in Children symposium, held in conjunction with the 43rd annual meeting of the Child Neurology Society, aimed to (1) describe the clinical concerns involving diagnosis and treatment, (2) review the current status of understanding in the pathogenesis of autism spectrum disorder, (3) discuss clinical management and therapies for autism spectrum disorder, and (4) define future directions of research. The article summarizes the presentations and includes an edited transcript of question-and-answer sessions. PMID:26336201

Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities.

PubMed

Howe, Yamini J; O'Rourke, Julia A; Yatchmink, Yvette; Viscidi, Emma W; Jones, Richard N; Morrow, Eric M

2015-11-01

This study investigated the differences in clinical symptoms between females and males with autism spectrum disorder (ASD) across three verbal ability groups (nonverbal, phrase and fluent speech), based on which Autism Diagnostic Observation Schedule module was administered to 5723 individuals in four research datasets. In the Simons Simplex Collection and Autism Treatment Network, females with ASD and phrase or fluent speech had lower cognitive, adaptive, and social abilities than males. In the Autism Genetics Resource Exchange and the Autism Consortium, females with phrase or fluent speech had similar or better adaptive and social abilities than males. Females who were nonverbal had similar cognitive, adaptive, and social abilities as males. Population-based longitudinal studies of verbally fluent females with ASD are needed.

A Two-Year Longitudinal MRI Study of the Corpus Callosum in Autism

PubMed Central

Frazier, Thomas W.; Keshavan, Matcheri S.; Minshew, Nancy J.; Hardan, Antonio Y.

2015-01-01

A growing body of literature has identified size reductions of the corpus callosum (CC) in autism. However, to our knowledge, no published studies have reported on the growth of CC volumes in youth with autism. Volumes of the total CC and its sub-divisions were obtained from 23 male children with autism and 23 age-matched male controls at baseline and 2-year follow-up. Persistent reductions in total CC volume were observed in participants with autism relative to controls. Only the rostral body sub-division showed a normalization of size over time. Persistent reductions are consistent with the diagnostic stability and life-long impairment observed in many individuals with autism. Multimodal imaging studies are needed to identify specific fiber tracks contributing to CC reductions. PMID:22350341

Elevated fetal steroidogenic activity in autism.

PubMed

Baron-Cohen, S; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D M; Abdallah, M W; Melgaard, L; Cohen, A S; Chakrabarti, B; Ruta, L; Lombardo, M V

2015-03-01

Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism.

Agenesis of the corpus callosum and autism: a comprehensive comparison.

PubMed

Paul, Lynn K; Corsello, Christina; Kennedy, Daniel P; Adolphs, Ralph

2014-06-01

The corpus callosum, with its ∼200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit localized deficits in non-literal language comprehension, humour, theory of mind and social reasoning. These findings together with parent reports suggest that behavioural and cognitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum disorders, particularly with respect to impairments in social interaction and communication. To provide a comprehensive test of this hypothesis, we directly compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of autism spectrum disorder but no neurological abnormality. All participants had full-scale intelligence quotient scores >78 and groups were matched on age, handedness, and gender ratio. Using the Autism Diagnostic Observation Schedule together with current clinical presentation to assess autistic symptomatology, we found that 8/26 (about a third) of agenesis subjects presented with autism. However, more formal diagnosis additionally involving recollective parent-report measures regarding childhood behaviour showed that only 3/22 met complete formal criteria for an autism spectrum disorder (parent reports were unavailable for four subjects). We found no relationship between intelligence quotient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual corpus callosum differentiated those who exhibited current autism spectrum symptoms from those who did not. Relative to the autism spectrum comparison group, parent ratings of childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria for autism, even for those who met autism spectrum criteria as adults, and even though there was no group difference in parent report of current

TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME

PubMed Central

Gürkan, C. Kağan; 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 as highly heritable, there is no genetic cure at this time. Autism is shown to be linked to several genes and is a feature of some complex genetic disorders, including fragile X syndrome (FXS), fragile X premutation involvement, tuberous sclerosis and Rett syndrome. The term autism spectrum disorders (ASDs) covers autism, Asperger syndrome and pervasive developmental disorders (PDD-NOS) and the etiologies are heterogeneous. In recent years, targeted treatments have been developed for several disorders that have a known specific genetic cause leading to autism. Since there are significant molecular and neurobiological overlaps among disorders, targeted treatments developed for a specific disorder may be helpful in ASD of unknown etiology. Examples of this are two drug classes developed to treat FXS, Arbaclofen, a GABAB agonist, and mGluR5 antagonists, and both may be helpful in autism without FXS. The mGluR5 antagonists are also likely to have a benefit in the aging problems of fragile X premutation carriers, the fragile X –associated tremor ataxia syndrome (FXTAS) and the Parkinsonism that can occur in aging patients with fragile X syndrome. Targeted treatments in FXS which has a well known genetic etiology may lead to new targeted treatments in autism. PMID:23162607

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)

PubMed Central

SOTO, TIMOTHY; KISS, IVY GISERMAN; CARTER, ALICE S.

2018-01-01

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. PMID:27556740

Quantifying and exploring camouflaging in men and women with autism.

PubMed

Lai, Meng-Chuan; Lombardo, Michael V; Ruigrok, Amber Nv; Chakrabarti, Bhismadev; Auyeung, Bonnie; Szatmari, Peter; Happé, Francesca; Baron-Cohen, Simon

2017-08-01

Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, 'camouflage' their social communication difficulties, which may require considerable cognitive effort and lead to increased stress, anxiety and depression. Using data from 60 age- and IQ-matched men and women with autism (without intellectual disability), we operationalized camouflaging in adults with autism for the first time as the quantitative discrepancy between the person's 'external' behavioural presentation in social-interpersonal contexts (measured by the Autism Diagnostic Observation Schedule) and the person's 'internal' status (dispositional traits measured by the Autism Spectrum Quotient and social cognitive capability measured by the 'Reading the Mind in the Eyes' Test). We found that the operationalized camouflaging measure was not significantly correlated with age or IQ. On average, women with autism had higher camouflaging scores than men with autism (Cohen's d = 0.98), with substantial variability in both groups. Greater camouflaging was associated with more depressive symptoms in men and better signal-detection sensitivity in women with autism. The neuroanatomical association with camouflaging score was largely sex/gender-dependent and significant only in women: from reverse inference, the most correlated cognitive terms were about emotion and memory. The underlying constructs, measurement, mechanisms, consequences and heterogeneity of camouflaging in autism warrant further investigation.

A microsatellite guided insight into the genetic status of adi, an isolated hunting-gathering tribe of northeast India.

PubMed

Krithika, S; Maji, Suvendu; Vasulu, T S

2008-07-02

Tibeto-Burman populations of India provide an insight into the peopling of India and aid in understanding their genetic relationship with populations of East, South and Southeast Asia. The study investigates the genetic status of one such Tibeto-Burman group, Adi of Arunachal Pradesh based on 15 autosomal microsatellite markers. Further the study examines, based on 9 common microsatellite loci, the genetic relationship of Adi with 16 other Tibeto-Burman speakers of India and 28 neighboring populations of East and Southeast Asia. Overall, the results support the recent formation of the Adi sub-tribes from a putative ancestral group and reveal that geographic contiguity is a major influencing factor of the genetic affinity among the Tibeto-Burman populations of India.

A Microsatellite Guided Insight into the Genetic Status of Adi, an Isolated Hunting-Gathering Tribe of Northeast India

PubMed Central

Krithika, S.; Maji, Suvendu; Vasulu, T. S.

2008-01-01

Tibeto-Burman populations of India provide an insight into the peopling of India and aid in understanding their genetic relationship with populations of East, South and Southeast Asia. The study investigates the genetic status of one such Tibeto-Burman group, Adi of Arunachal Pradesh based on 15 autosomal microsatellite markers. Further the study examines, based on 9 common microsatellite loci, the genetic relationship of Adi with 16 other Tibeto-Burman speakers of India and 28 neighboring populations of East and Southeast Asia. Overall, the results support the recent formation of the Adi sub-tribes from a putative ancestral group and reveal that geographic contiguity is a major influencing factor of the genetic affinity among the Tibeto-Burman populations of India. PMID:18596928

Autism Litigation: Outcomes for 2010, Trends in Decision Making and Changes in Diagnostic Criteria

ERIC Educational Resources Information Center

Hill, Doris Adams; Kearley, Regina

2013-01-01

The diagnosis of autism spectrum disorder has systematically risen since Kanner's description in 1943 and Asperger's definition in 1944. An increase in numbers has met with an increase in litigation regarding autism spectrum disorder (ASD) and the Individuals with Disabilities Education Improvement Act (IDEIA). Outcomes that first favored parents…

Childhood Facial Recognition Predicts Adolescent Symptom Severity in Autism Spectrum Disorder.

PubMed

Eussen, Mart L J M; Louwerse, Anneke; Herba, Catherine M; Van Gool, Arthur R; Verheij, Fop; Verhulst, Frank C; Greaves-Lord, Kirstin

2015-06-01

Limited accuracy and speed in facial recognition (FR) and in the identification of facial emotions (IFE) have been shown in autism spectrum disorders (ASD). This study aimed at evaluating the predictive value of atypicalities in FR and IFE for future symptom severity in children with ASD. Therefore we performed a seven-year follow-up study in 87 children with ASD. FR and IFE were assessed in childhood (T1: age 6-12) using the Amsterdam Neuropsychological Tasks (ANT). Symptom severity was assessed using the Autism Diagnostic Observation Schedule (ADOS) in childhood and again seven years later during adolescence (T2: age 12-19). Multiple regression analyses were performed to investigate whether FR and IFE in childhood predicted ASD symptom severity in adolescence, while controlling for ASD symptom severity in childhood. We found that more accurate FR significantly predicted lower adolescent ASD symptom severity scores (ΔR(2) = .09), even when controlling for childhood ASD symptom severity. IFE was not a significant predictor of ASD symptom severity in adolescence. From these results it can be concluded, that in children with ASD the accuracy of FR in childhood is a relevant predictor of ASD symptom severity in adolescence. Test results on FR in children with ASD may have prognostic value regarding later symptom severity. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

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

PubMed

Rao, Patricia A; Landa, Rebecca J

2014-04-01

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 deficit hyperactivity disorder in school-aged children (4-8 years) with autism spectrum disorder, most of whom were first enrolled in our research protocols as toddlers. Results revealed that children with autism spectrum disorder and attention deficit hyperactivity disorder had lower cognitive functioning, more severe social impairment, and greater delays in adaptive functioning than children with autism spectrum disorder only. Implications for clinical practice include the need to assess for attention deficit hyperactivity disorder symptoms at an early age in children diagnosed with autism spectrum disorder. Research is needed to determine efficacious interventions for young children with autism spectrum disorder with comorbid attention deficit hyperactivity disorder to optimize outcomes.

Experiences of Diagnosing Autism Spectrum Disorder: A Survey of Professionals in the United Kingdom

ERIC Educational Resources Information Center

Rogers, Claire L.; Goddard, Lorna; Hill, Elisabeth L.; Henry, Lucy A.; Crane, Laura

2016-01-01

To date, research exploring experiences of diagnosing autism spectrum disorder has largely focused on parental perspectives. In order to obtain a more complete account of the autism spectrum disorder diagnostic process, it is essential that the views and experiences of professionals are heard. In this study, 116 multidisciplinary professionals…

Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging.

PubMed

Jiao, Y; Chen, R; Ke, X; Cheng, L; Chu, K; Lu, Z; Herskovits, E H

2011-01-01

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, of which Asperger syndrome and high-functioning autism are subtypes. Our goal is: 1) to determine whether a diagnostic model based on single-nucleotide polymorphisms (SNPs), brain regional thickness measurements, or brain regional volume measurements can distinguish Asperger syndrome from high-functioning autism; and 2) to compare the SNP, thickness, and volume-based diagnostic models. Our study included 18 children with ASD: 13 subjects with high-functioning autism and 5 subjects with Asperger syndrome. For each child, we obtained 25 SNPs for 8 ASD-related genes; we also computed regional cortical thicknesses and volumes for 66 brain structures, based on structural magnetic resonance (MR) examination. To generate diagnostic models, we employed five machine-learning techniques: decision stump, alternating decision trees, multi-class alternating decision trees, logistic model trees, and support vector machines. For SNP-based classification, three decision-tree-based models performed better than the other two machine-learning models. The performance metrics for three decision-tree-based models were similar: decision stump was modestly better than the other two methods, with accuracy = 90%, sensitivity = 0.95 and specificity = 0.75. All thickness and volume-based diagnostic models performed poorly. The SNP-based diagnostic models were superior to those based on thickness and volume. For SNP-based classification, rs878960 in GABRB3 (gamma-aminobutyric acid A receptor, beta 3) was selected by all tree-based models. Our analysis demonstrated that SNP-based classification was more accurate than morphometry-based classification in ASD subtype classification. Also, we found that one SNP--rs878960 in GABRB3--distinguishes Asperger syndrome from high-functioning autism.

A Novel System for Supporting Autism Diagnosis Using Home Videos: Iterative Development and Evaluation of System Design.

PubMed

Nazneen, Nazneen; Rozga, Agata; Smith, Christopher J; Oberleitner, Ron; Abowd, Gregory D; Arriaga, Rosa I

2015-06-17

Observing behavior in the natural environment is valuable to obtain an accurate and comprehensive assessment of a child's behavior, but in practice it is limited to in-clinic observation. Research shows significant time lag between when parents first become concerned and when the child is finally diagnosed with autism. This lag can delay early interventions that have been shown to improve developmental outcomes. To develop and evaluate the design of an asynchronous system that allows parents to easily collect clinically valid in-home videos of their child's behavior and supports diagnosticians in completing diagnostic assessment of autism. First, interviews were conducted with 11 clinicians and 6 families to solicit feedback from stakeholders about the system concept. Next, the system was iteratively designed, informed by experiences of families using it in a controlled home-like experimental setting and a participatory design process involving domain experts. Finally, in-field evaluation of the system design was conducted with 5 families of children (4 with previous autism diagnosis and 1 child typically developing) and 3 diagnosticians. For each family, 2 diagnosticians, blind to the child's previous diagnostic status, independently completed an autism diagnosis via our system. We compared the outcome of the assessment between the 2 diagnosticians, and between each diagnostician and the child's previous diagnostic status. The system that resulted through the iterative design process includes (1) NODA smartCapture, a mobile phone-based application for parents to record prescribed video evidence at home; and (2) NODA Connect, a Web portal for diagnosticians to direct in-home video collection, access developmental history, and conduct an assessment by linking evidence of behaviors tagged in the videos to the Diagnostic and Statistical Manual of Mental Disorders criteria. Applying clinical judgment, the diagnostician concludes a diagnostic outcome. During field

ENVIRONMENTAL TECHNOLOGY VERIFICATION REPORT, REMOVAL OF ARSENIC IN DRINKING WATER: ADI INTERNATIONAL INC. ADI PILOT TEST UNIT NO. 2002-09 WITH MEDIA G2®; PHASE II

EPA Science Inventory

Verification testing of the ADI International Inc. Unit No. 2002-09 with MEDIA G2® arsenic adsorption media filter system was conducted at the Hilltown Township Water and Sewer Authority (HTWSA) Well Station No. 1 in Sellersville, Pennsylvania from October 8, 2003 through May 28,...

The role of arginine and the modified arginine deiminase enzyme ADI-PEG 20 in cancer therapy with special emphasis on Phase I/II clinical trials.

PubMed

Synakiewicz, Anna; Stachowicz-Stencel, Teresa; Adamkiewicz-Drozynska, Elzbieta

2014-11-01

The metabolic differences between normal, healthy cells and neoplastic cells have been exploited by anticancer therapies targeting metabolic pathways. Various studies of malignant processes have demonstrated disturbances in both arginine synthesis and metabolism that enhance or inhibit tumor cell growth. Consequently, there has been an increased interest in the arginine-depleting enzyme arginine deiminase (ADI) as a potential antineoplastic therapy. This review summarizes the literature on the potential anti-cancer therapeutics arginine and ADI, an arginine-catabolizing enzyme. The authors searched the MEDLINE database PubMed using the key words: 'arginine, 'ADI', 'arginine in cancer' and 'ADI and cancer'. The authors evaluate prospective randomized studies on cancer patients between 2004 and 2013 as well as ongoing research found through the US National Institutes of Health trial database. The results of current studies are promising but do not give unequivocal answers and so it is impossible to recommend arginine or its enzyme ADI as a therapeutic. In the opinion of the authors, further identification of arginine-dependent malignant tumors and their metabolism should be investigated. Furthermore, the use of these chemicals, in combination with other chemotherapeutics drugs, should be investigated and indeed may improve the success of arginine-depleting enzymes such as pegylated ADI (ADI-PEG20).

Childhood and Current Autistic Features in Adolescents with Schizotypal Personality Disorder

PubMed Central

Esterberg, Michelle L.; Trotman, Hanan D.; Brasfield, Joy L.; Compton, Michael T.; Walker, Elaine F.

2008-01-01

The diagnostic boundaries between autistic- and schizophrenia-spectrum disorders have varied over the years, and some overlap in diagnostic criteria persists. The present study examined childhood and current signs of autistic disorder (AD) in adolescents with schizotypal personality disorder (SPD) or other personality disorders, as well as healthy controls. A structured interview was administered to rate participants’ current symptoms. Participants’ guardians were interviewed with the Autism Diagnostic Inventory-Revised (ADI-R), a clinical assessment of childhood and current autistic signs. Compared to both the other personality-disordered and healthy groups, adolescents with SPD were rated as having significantly more impairment on childhood and current social functioning, and having more unusual interests and behaviors. For the entire sample, impaired childhood social functioning and unusual interests and behaviors were associated with higher negative symptom scores. Current impairments in social functioning, unusual interests and behaviors, and communication were also linked with greater negative symptoms. However, neither childhood nor current autistic features significantly predicted later conversion to an Axis I psychotic disorder over the course of three years of follow-up. The findings indicate that past and current autistic signs are more common in adolescents with SPD, but neither current nor childhood autistic features are linked with conversion to psychosis. PMID:18554872

Group Cognitive Behavior Therapy for Children with High-Functioning Autism Spectrum Disorders and Anxiety: A Randomized Trial

PubMed Central

Reaven, Judy; Blakeley-Smith, Audrey; Culhane-Shelburne, Kathy; Hepburn, Susan

2015-01-01

Background Children with high-functioning autism spectrum disorders (ASD) are at high risk for developing significant anxiety. Anxiety can adversely impact functioning across school, home and community environments. Cognitive behavior therapies (CBT) are frequently used with success for children with anxiety symptoms. Modified CBT interventions for anxiety in children with ASD have also yielded promising results. Methods Fifty children with high-functioning ASD and anxiety were randomized to group CBT or Treatment as Usual (TAU) for 12 weeks. Independent Clinical Evaluators, blind to condition, completed structured interviews (Anxiety Disorders Interview Schedule – Parent Version; ADIS-P) pre- and post-intervention condition. Results Forty-seven children completed either the CBT or TAU condition. Results indicated markedly better outcomes for the CBT group. Significant differences by group were noted in Clinician Severity Ratings, diagnostic status, and clinician ratings of global improvement. In the intent-to-treat sample, ten of 20 children (50%) in the CBT group had a clinically meaningful positive treatment response, compared to 2 of 23 children (8.7%) in the TAU group. Conclusions Initial results from this rigorously designed treatment study suggest that a group CBT intervention specifically developed for children with ASD may be effective in decreasing anxiety. Limitations of this study include small sample size, lack of an attention control group, and use of outcome measures normed with typically developing children. PMID:22435114

Latent Class Analysis of Early Developmental Trajectory in Baby Siblings of Children with Autism

ERIC Educational Resources Information Center

Landa, Rebecca J.; Gross, Alden L.; Stuart, Elizabeth A.; Bauman, Margaret

2012-01-01

Background: Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods: Sibs-A (N = 204) were assessed…

Prevalence of Autism Spectrum Phenomenology in Cornelia de Lange and Cri du Chat Syndromes

ERIC Educational Resources Information Center

Moss, Joanna F.; Oliver, Chris; Berg, Katy; Kaur, Gurmeash; Jephcott, Lesley; Cornish, Kim

2008-01-01

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat…

[Autism: toward a necessary cultural revolution].

PubMed

Chamak, Brigitte; Cohen, David

2003-11-01

Autism is a pervasive developmental disorder of childhood characterised by disturbances in both social interactions and communication as well as stereotyped patterns of activities and behaviour. The increase in estimates of the prevalence of autism has raised the question of an "epidemic" of autism. More active case assessment and changes in diagnostic criteria probably account in large part for such increase. Investigators have attempted to define the neural pathophysiology of autism ever since the hypothesis of "refrigerator mother" as its cause was replaced by the view that it is a developmental disorder of the immature brain. However consensus is yet to be reached concerning the brain regions implicated. Psychoanalysis, cognitive psychology, neurophysiology, neuropharmacology, and genetics propose restricted view of the major issues leaving extensive areas unexplored. Therapeutic approaches induce only partial and uncertain results. There is no cure for autism but substantial evidence indicates that early, intensive, individualised education is beneficial for children. All modern intervention programs for autism affected children share a high degree of environmental structuring and predictability and an extensive individual approach. Autism being a behaviourally defined syndrome, it gave rise to a number of controversies concerning definition, classification, etiopathogenesis and therapeutics. In the 1990s a crisis has occurred in France with a loss of confidence between parents and psychiatrists with a problem concerning the means and ways of care of the autistic individual. The aim of this paper is to point out the different questions raised by autism in order to better understand this syndrome which touches upon essential behaviour-related aspects such as self consciousness, reality perception, the functioning of the thought and communication, as well as the role of hereditary and acquired influences in normal and pathological development.

Subregional differences in intrinsic amygdala hyperconnectivity and hypoconnectivity in autism spectrum disorder.

PubMed

Kleinhans, Natalia M; Reiter, Maya A; Neuhaus, Emily; Pauley, Greg; Martin, Nathalie; Dager, Stephen; Estes, Annette

2016-07-01

The amygdala is a complex structure with distinct subregions and dissociable functional networks. The laterobasal subregion of the amygdala is hypothesized to mediate the presentation and severity of autism symptoms, although very little data are available regarding amygdala dysfunction at the subregional level. In this study, we investigated the relationship between abnormal amygdalar intrinsic connectivity, autism symptom severity, and anxiety and depressive symptoms. We collected resting state fMRI data on 31 high functioning adolescents and adults with autism spectrum disorder and 38 typically developing (TD) controls aged 14-45. Twenty-five participants with ASD and 28 TD participants were included in the final analyses. ASD participants were administered the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule. Adult participants were administered the Beck Depression Inventory II and the Beck Anxiety Inventory. Functional connectivity analyses were conducted from three amygdalar subregions: centromedial (CM), laterobasal (LB) and superficial (SF). In addition, correlations with the behavioral measures were tested in the adult participants. In general, the ASD group showed significantly decreased connectivity from the LB subregion and increased connectivity from the CM and SF subregions compared to the TD group. We found evidence that social symptoms are primarily associated with under-connectivity from the LB subregion whereas over-connectivity and under-connectivity from the CM, SF and LB subregions are related to co-morbid depression and anxiety in ASD, in brain regions that were distinct from those associated with social dysfunction, and in different patterns than were observed in mildly symptomatic TD participants. Our findings provide new evidence for functional subregional differences in amygdala pathophysiology in ASD. Autism Res 2016, 9: 760-772. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. �

Autism-related neuroligin-3 mutation alters social behavior and spatial learning.

PubMed

Jaramillo, Thomas C; Liu, Shunan; Pettersen, Ami; Birnbaum, Shari G; Powell, Craig M

2014-04-01

Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

Gene Expression Profiling Differentiates Autism Case–Controls and Phenotypic Variants of Autism Spectrum Disorders: Evidence for Circadian Rhythm Dysfunction in Severe Autism

PubMed Central

Hu, Valerie W.; Sarachana, Tewarit; Kim, Kyung Soon; Nguyen, AnhThu; Kulkarni, Shreya; Steinberg, Mara E.; Luu, Truong; Lai, Yinglei; Lee, Norman H.

2009-01-01

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by delayed/abnormal language development, deficits in social interaction, repetitive behaviors and restricted interests. The heterogeneity in clinical presentation of ASD, likely due to different etiologies, complicates genetic/biological analyses of these disorders. DNA microarray analyses were conducted on 116 lymphoblastoid cell lines (LCL) from individuals with idiopathic autism who are divided into three phenotypic subgroups according to severity scores from the commonly used Autism Diagnostic Interview-Revised questionnaire and age-matched, nonautistic controls. Statistical analyses of gene expression data from control LCL against that of LCL from ASD probands identify genes for which expression levels are either quantitatively or qualitatively associated with phenotypic severity. Comparison of the significant differentially expressed genes from each subgroup relative to the control group reveals differentially expressed genes unique to each subgroup as well as genes in common across subgroups. Among the findings unique to the most severely affected ASD group are 15 genes that regulate circadian rhythm, which has been shown to have multiple effects on neurological as well as metabolic functions commonly dysregulated in autism. Among the genes common to all three subgroups of ASD are 20 novel genes mostly in putative noncoding regions, which appear to associate with androgen sensitivity and which may underlie the strong 4:1 bias toward affected males. PMID:19418574

Rate and Risk Factors Associated with Autism Spectrum Disorder in Congenital Diaphragmatic Hernia

ERIC Educational Resources Information Center

Danzer, Enrico; Hoffman, Casey; D'Agostino, Jo Ann; Miller, Judith S.; Waqar, Lindsay N.; Gerdes, Marsha; Bernbaum, Judy C.; Rosenthal, Hannah; Rintoul, Natalie E.; Herkert, Lisa M.; Peranteau, William H.; Flake, Alan W.; Adzick, N. Scott; Hedrick, Holly L.

2018-01-01

To determine the rate and predictors of autism spectrum disorder (ASD) in congenital diaphragmatic hernia (CDH). Between 06/2004 and 09/2015 a total of 110 CDH survivors underwent neurodevelopmental (ND) testing and screening for ASD, followed by a full autism diagnostic evaluation if indicated at our institution. We found a 9 time higher rate of…

[Structural change of the corpus callosum fibers in toddlers with autism spectrum disorder: two-year follow-up].

PubMed

Chang, C; Qiu, N N; Xiao, T; Xiao, X; Chu, K K; Li, Y; Wu, Q R; Fang, H; Ke, X Y

2017-12-02

Objective: To conduct a follow-up investigation of structural changes of the corpus callosum fibers of toddlers (2 to 5 years of age) with autism spectrum disorder(ASD) and to explore the associations with clinical symptoms. Method: In this prospective randomized controlled study, ASD children who were diagnosed in the Child Mental Health Research Center, Nanjing Brain Hospital Affiliated to Nanjing Medical University from May 2011 to November 2012 were included in the ASD group, and developmentally delayed children were included in the control group (DD group). Diffusion tensor imaging (DTI) data from the two groups were obtained at two age levels: 2-3 years of age, and 4-5 years of age. Region of interest analysis was applied to assess characteristic values of total area and sub-regions of corpus callosum: the fraction anisotropy (FA), the mean diffusivity (MD), the radial diffusivity (RD) and the axial diffusivity (AD). All children were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Autism Treatment Evaluation Checklist (ATEC). The characteristic values of total area and sub-regions of corpus callosum of ASD group at two age levels were analyzed by paired sample t test; the characteristic values of total area and sub-regions of corpus callosum of ASD group and DD group were analyzed by independent-sample t test; the correlations between FA values of the total area and sub-regions of corpus callosum and ADI-R or ATEC scores were analyzed by Pearson correlation analysis. Result: Forty cases meeting inclusion criteria were enrolled in ASD group, and 31 eligible cases were enrolled in the control group. Four children in the ASD group were lost to follow-up, and 5 children in the control group were lost to follow-up. Longitudinal comparison between the two age subgroups of ASD patients showed that the FA values of the total corpus callosum increased (0.499 55±0.027 59 vs . 0.505 83±0.086 64, t= 4.88, P <0.05), but MD values, RD values and AD

Autism

MedlinePlus

... Staying Safe Videos for Educators Search English Español Autism KidsHealth / For Teens / Autism What's in this article? ... With Autism? Print en español Autismo What Is Autism? Autism (also called "autism spectrum disorder") is a ...

An investigation of the 'female camouflage effect' in autism using a computerized ADOS-2 and a test of sex/gender differences.

PubMed

Rynkiewicz, Agnieszka; Schuller, Björn; Marchi, Erik; Piana, Stefano; Camurri, Antonio; Lassalle, Amandine; Baron-Cohen, Simon

2016-01-01

Autism spectrum conditions (autism) are diagnosed more frequently in boys than in girls. Females with autism may have been under-identified due to not only a male-biased understanding of autism but also females' camouflaging. The study describes a new technique that allows automated coding of non-verbal mode of communication (gestures) and offers the possibility of objective, evaluation of gestures, independent of human judgment. The EyesWeb software platform and the Kinect sensor during two demonstration activities of ADOS-2 (Autism Diagnostic Observation Schedule, Second Edition) were used. The study group consisted of 33 high-functioning Polish girls and boys with formal diagnosis of autism or Asperger syndrome aged 5-10, with fluent speech, IQ average and above and their parents (girls with autism, n = 16; boys with autism, n = 17). All children were assessed during two demonstration activities of Module 3 of ADOS-2, administered in Polish, and coded using Polish codes. Children were also assessed with Polish versions of the Eyes and Faces Tests. Parents provided information on the author-reviewed Polish research translation of SCQ (Social Communication Questionnaire, Current and Lifetime) and Polish version of AQ Child (Autism Spectrum Quotient, Child). Girls with autism tended to use gestures more vividly as compared to boys with autism during two demonstration activities of ADOS-2. Girls with autism made significantly more mistakes than boys with autism on the Faces Test. All children with autism had high scores in AQ Child, which confirmed the presence of autistic traits in this group. The current communication skills of boys with autism reported by parents in SCQ were significantly better than those of girls with autism. However, both girls with autism and boys with autism improved in the social and communication abilities over the lifetime. The number of stereotypic behaviours in boys significantly decreased over life whereas it remained at a

Autism Spectrum Disorders in the DSM-V: Better or Worse than the DSM-IV?

ERIC Educational Resources Information Center

Wing, Lorna; Gould, Judith; Gillberg, Christopher

2011-01-01

The DSM-V-committee has recently published proposed diagnostic criteria for autism spectrum disorders. We examine these criteria in some detail. We believe that the DSM-committee has overlooked a number of important issues, including social imagination, diagnosis in infancy and adulthood, and the possibility that girls and women with autism may…

Autism Spectrum Disorder: Primary Care Principles.

PubMed

Sanchack, Kristian E; Thomas, Craig A

2016-12-15

Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.

MiR-980 is a memory suppressor microRNA that regulates the autism-susceptibility gene, A2bp1

PubMed Central

Guven-Ozkan, Tugba; Busto, Germain U.; Schutte, Soleil S.; Cervantes-Sandoval, Isaac; O’Dowd, Diane K.; Davis, Ronald L.

2016-01-01

SUMMARY MicroRNAs have been associated with many different biological functions but little is known about their roles in conditioned behavior. We demonstrate that Drosophila miR-980 is a memory suppressor gene functioning in multiple regions of the adult brain. Memory acquisition and stability were both increased by miR-980 inhibition. Whole cell recordings and functional imaging experiments indicated that miR-980 regulates neuronal excitability. We identified the autism susceptibility gene, A2bp1, as an mRNA target for miR-980. A2bp1 levels varied inversely with miR-980 expression; memory performance was directly related to A2bp1 levels. In addition, A2bp1 knockdown reversed the memory gains produced by miR-980 inhibition, consistent with A2bp1 being a downstream target of miR-980 responsible for the memory phenotypes. Our results indicate that miR-980 represses A2bp1 expression to tune the excitable state of neurons, and the overall state of excitability translates to memory impairment or improvement. PMID:26876166

Quantifying and exploring camouflaging in men and women with autism

PubMed Central

Lai, Meng-Chuan; Lombardo, Michael V; Ruigrok, Amber NV; Chakrabarti, Bhismadev; Auyeung, Bonnie; Szatmari, Peter; Happé, Francesca; Baron-Cohen, Simon

2016-01-01

Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, ‘camouflage’ their social communication difficulties, which may require considerable cognitive effort and lead to increased stress, anxiety and depression. Using data from 60 age- and IQ-matched men and women with autism (without intellectual disability), we operationalized camouflaging in adults with autism for the first time as the quantitative discrepancy between the person’s ‘external’ behavioural presentation in social–interpersonal contexts (measured by the Autism Diagnostic Observation Schedule) and the person’s ‘internal’ status (dispositional traits measured by the Autism Spectrum Quotient and social cognitive capability measured by the ‘Reading the Mind in the Eyes’ Test). We found that the operationalized camouflaging measure was not significantly correlated with age or IQ. On average, women with autism had higher camouflaging scores than men with autism (Cohen’s d = 0.98), with substantial variability in both groups. Greater camouflaging was associated with more depressive symptoms in men and better signal-detection sensitivity in women with autism. The neuroanatomical association with camouflaging score was largely sex/gender-dependent and significant only in women: from reverse inference, the most correlated cognitive terms were about emotion and memory. The underlying constructs, measurement, mechanisms, consequences and heterogeneity of camouflaging in autism warrant further investigation. PMID:27899710

Brief Report: Symptom Onset Patterns and Functional Outcomes in Young Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Shumway, Stacy; Thurm, Audrey; Swedo, Susan E.; Deprey, Lesley; Barnett, Lou Ann; Amaral, David G.; Rogers, Sally J.; Ozonoff, Sally

2011-01-01

This study examined the relationship between onset status and current functioning using a recently proposed onset classification system in 272 young children with autism spectrum disorder (ASD). Participants were classified into one of the following groups, based on parent report using the Autism Diagnostic Interview-Revised: Early Onset (symptoms…

Elevated fetal steroidogenic activity in autism

PubMed Central

Baron-Cohen, S; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D M; Abdallah, M W; Melgaard, L; Cohen, A S; Chakrabarti, B; Ruta, L; Lombardo, M V

2015-01-01

Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism. PMID:24888361

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

PubMed

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.

Clinical Issues in the Use of the "DSM-III-R" with African American Children: A Diagnostic Paradigm.

ERIC Educational Resources Information Center

Johnson, Ronn

1993-01-01

Reviews concerns related to diagnoses in delivery of mental health services, specifically, application of the principles of the Diagnostic and Statistical Manual of Mental Health Disorders (DSM-III-R) to African-American children. An alternative diagnostic model is proposed, and recommendations are made for enhancing the diagnostic process. (SLD)

Desulfovibrio species are potentially important in regressive autism.

PubMed

Finegold, Sydney M

2011-08-01

Autism is a complex disorder with no specific diagnostic test so the disease is defined by its characteristics including cognitive defects, social, communication and behavioral problems, repetitive behaviors, unusual sensitivity to stimuli such as noise, restricted interests, and self stimulation. The incidence of this disease has increased remarkably in recent years and was 110/10,000 children (∼1%) in multiple areas of the US in 2007. The financial burden on families and communities is enormous. In terms of predisposing factors, heredity plays a role in some subjects, but it is clear that environmental factors are also important. Environmental toxins can affect the immune system adversely. Intestinal bacteria are recognized by a few investigators as potentially important and we have proposed that certain antimicrobial drugs may be a key factor in modifying the intestinal bacterial flora adversely, selecting out potentially harmful bacteria that are normally suppressed by an intact normal intestinal flora. We had felt that clostridia in the gut might be involved in autism because they are virulent organisms and spore-formers; spores would resist antibacterial agents so that when antibiotics were discontinued the spores would germinate and by toxin production or another mechanism lead to autism. However, a recent study of ours employing the powerful pyrosequencing technique on stools of subjects with regressive autism showed that Desulfovibrio was more common in autistic subjects than in controls. We subsequently confirmed this with pilot cultural and real-time PCR studies and found siblings of autistic children had counts of Desulfovibrio that were intermediate, suggesting possible spread of the organism in the family environment. Desulfovibrio is an anaerobic bacillus that does not produce spores but is nevertheless resistant to aerobic and other adverse conditions by other mechanisms and is commonly resistant to certain antimicrobial agents (such as

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

PubMed

Tammimies, Kristiina; Marshall, Christian R; Walker, Susan; Kaur, Gaganjot; Thiruvahindrapuram, Bhooma; Lionel, Anath C; Yuen, Ryan K C; Uddin, Mohammed; Roberts, Wendy; Weksberg, Rosanna; Woodbury-Smith, Marc; Zwaigenbaum, Lonnie; Anagnostou, Evdokia; Wang, Zhuozhi; Wei, John; Howe, Jennifer L; Gazzellone, Matthew J; Lau, Lynette; Sung, Wilson W L; Whitten, Kathy; Vardy, Cathy; Crosbie, Victoria; Tsang, Brian; D'Abate, Lia; Tong, Winnie W L; Luscombe, Sandra; Doyle, Tyna; Carter, Melissa T; Szatmari, Peter; Stuckless, Susan; Merico, Daniele; Stavropoulos, Dimitri J; Scherer, Stephen W; Fernandez, Bridget A

2015-09-01

The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group of children with ASD to determine the molecular diagnostic yield of these tests in a sample typical of a developmental pediatric clinic. The sample consisted of 258 consecutively ascertained unrelated children with ASD who underwent detailed assessments to define morphology scores based on the presence of major congenital abnormalities and minor physical anomalies. The children were recruited between 2008 and 2013 in Newfoundland and Labrador, Canada. The probands were stratified into 3 groups of increasing morphological severity: essential, equivocal, and complex (scores of 0-3, 4-5, and ≥6). All probands underwent CMA, with WES performed for 95 proband-parent trios. The overall molecular diagnostic yield for CMA and WES in a population-based ASD sample stratified in 3 phenotypic groups. Of 258 probands, 24 (9.3%, 95%CI, 6.1%-13.5%) received a molecular diagnosis from CMA and 8 of 95 (8.4%, 95%CI, 3.7%-15.9%) from WES. The yields were statistically different between the morphological groups. Among the children who underwent both CMA and WES testing, the estimated proportion with an identifiable genetic etiology was 15.8% (95%CI, 9.1%-24.7%; 15/95 children). This included 2 children who received molecular diagnoses from both tests. The combined yield was significantly higher in the complex group when compared with the essential group (pairwise comparison, P = .002). [table: see text]. Among a heterogeneous sample of children with ASD, the molecular diagnostic yields of CMA and WES were comparable, and the combined molecular diagnostic yield was higher in children with more complex morphological phenotypes in comparison with the children in the essential category. If replicated in additional populations, these findings may

Pharmacologic treatment of autism.

PubMed

Palermo, Mark T; Curatolo, Paolo

2004-03-01

Autism is a chronic and lifelong pervasive developmental disorder for which there is yet no effective cure, and medical management remains a major challenge for clinicians. In spite of the possible similarities with conditions that have an established pharmacotherapy, and despite improvements in some associated "problematic behaviors" following the use of available medications, effective medical treatment for the core symptoms involving language and social cognition remains elusive. The purpose of the present article is to review current biologic knowledge about autism in an attempt to correlate clinical trials with known mechanisms of disease. In addition, the need for controlled studies and for the creation of homogeneous subgroups of patients based on clinical and genetic characteristics is emphasized. The application of molecular genetic investigations and pharmacogenetics in the diagnostic work-up of autistic patients can lead to more effective individualized medical care.

Cognitive and Adaptive Skills in Toddlers Who Meet Criteria for Autism in DSM-IV but Not DSM-5

ERIC Educational Resources Information Center

Jashar, Dasal Tenzin; Brennan, Laura A.; Barton, Marianne L.; Fein, Deborah

2016-01-01

The current study compared adaptive and cognitive skills, and autism severity of toddlers with an autism spectrum disorder (ASD) diagnosis under DSM-IV but not DSM-5 criteria (DSM-IV only group) to those who met autism criteria under both diagnostic systems (DSM-5 group) and to those without ASD (non-ASD group). The toddlers in the DSM-IV only…

What Is Available for Case Identification in Autism Research in Mainland China?

ERIC Educational Resources Information Center

Sun, Xiang; Allison, Carrie; Auyeung, Bonnie; Matthews, Fiona E.; Baron-Cohen, Simon; Brayne, Carol

2013-01-01

Little is known about research on Autism Spectrum Conditions (ASC) in mainland China. The few available studies in mainland China have shown the screening and diagnostic instruments for ASC used in mainland China were different from the West. Literature on screening and diagnostic instruments and criteria were reviewed and current available…

Clinical, morphological, and biochemical correlates of head circumference in autism.

PubMed

Sacco, Roberto; Militerni, Roberto; Frolli, Alessandro; Bravaccio, Carmela; Gritti, Antonella; Elia, Maurizio; Curatolo, Paolo; Manzi, Barbara; Trillo, Simona; Lenti, Carlo; Saccani, Monica; Schneider, Cindy; Melmed, Raun; Reichelt, Karl-Ludvig; Pascucci, Tiziana; Puglisi-Allegra, Stefano; Persico, Antonio M

2007-11-01

Head growth rates are often accelerated in autism. This study is aimed at defining the clinical, morphological, and biochemical correlates of head circumference in autistic patients. Fronto-occipital head circumference was measured in 241 nonsyndromic autistic patients, 3 to 16 years old, diagnosed according to DSM-IV criteria. We assessed 1) clinical parameters using the Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, Vineland Adaptive Behavioral Scales, intelligence quotient measures, and an ad hoc clinical history questionnaire; 2) height and weight; 3) serotonin (5-HT) blood levels and peptiduria. The distribution of cranial circumference is significantly skewed toward larger head sizes (p < .00001). Macrocephaly (i.e., head circumference >97th percentile) is generally part of a broader macrosomic endophenotype, characterized by highly significant correlations between head circumference, weight, and height (p < .001). A head circumference >75th percentile is associated with more impaired adaptive behaviors and with less impairment in IQ measures and motor and verbal language development. Surprisingly, larger head sizes are significantly associated with a positive history of allergic/immune disorders both in the patient and in his/her first-degree relatives. Our study demonstrates the existence of a macrosomic endophenotype in autism and points toward pathogenetic links with immune dysfunctions that we speculate either lead to or are associated with increased cell cycle progression and/or decreased apoptosis.

Abnormal fatty acids in Canadian children with autism.

PubMed

Jory, Joan

2016-04-01

Fatty acids are critical for pediatric neurodevelopment and are abnormal in autism, although prior studies have demonstrated conflicting results and methodological differences. To our knowledge, there are no published data on fatty acid in Canadian children with autism. The aim of this study was to investigate red blood cell and serum fatty acid status to identify whether abnormalities exist in Canadian children with autism, and to enhance future cross-study comparison. Eleven Canadian children with autism (3 girls, 8 boys; age 3.05 ± 0.79 y) and 15 controls (9 girls, 6 boys; age 3.87 ± 1.06 y) met inclusion criteria, which included prior Diagnostic and Statistical Manual diagnosis of autism spectrum disorder, no recent medication or supplements, no specialty diets, and no recent illness. The children with autism demonstrated lower red blood cell docosahexaenoic acid (P < 0.0003), eicosapentaenoic acid (P < 0.03), arachidonic acid (P < 0.002), and ω-3/ω-6 ratios (P < 0.001). They also demonstrated lower serum docosahexaenoic acid (P < 0.02), arachidonic acid (P < 0.05), and linoleic acid (P < 0.02) levels. Fatty acids in both serum and red blood cells were abnormal in this small group of Canadian children with autism than in controls, underlining a need for larger age- and sex-matched investigations in this community. A potential role for fatty acid abnormalities within the complex epigenetic etiology of autism is proposed in relation to emerging understanding of relationships between cobalamin metabolism, gut microbiota, and propionic acid production. Copyright © 2016 Elsevier Inc. All rights reserved.

Screening in toddlers and preschoolers at risk for autism spectrum disorder: Evaluating a novel mobile-health screening tool.

PubMed

Kanne, Stephen M; Carpenter, Laura Arnstein; Warren, Zachary

2018-05-07

There are many available tools with varying levels of accuracy designed to screen for Autism Spectrum Disorder (ASD) in young children, both in the general population and specifically among those referred for developmental concerns. With burgeoning waitlists for comprehensive diagnostic ASD assessments, finding accurate methods and tools for advancing diagnostic triage becomes increasingly important. The current study compares the efficacy of four oft used paper and pencil measures, the Modified Checklist for Autism in Toddlers Revised with Follow-up, the Social Responsiveness Scale, Second Edition, and the Social Communication Questionnaire, and the Child Behavior Checklist to a novel mobile-health screening tool developed by Cognoa, Inc. (Cognoa) in a group of children 18-72 months of age. The Cognoa tool may have potential benefits as it integrates a series of parent-report questions with remote clinical ratings of brief video segments uploaded via parent's smartphones to calculate level of ASD risk. Participants were referred to one of three tertiary care diagnostic centers for ASD-related concerns (n = 230) and received a best estimate ASD diagnosis. Analysis and comparison of psychometric properties indicated potential advantages for Cognoa within this clinical sample across age ranges not often covered by another single measure/tool. Autism Res 2018. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. With the wait times getting longer for comprehensive Autism Spectrum Disorder (ASD) diagnostic assessments, it is becoming increasingly important to find accurate tools to screen for ASD. The current study compares four screening measures that have been in use for some time to a novel mobile-health screening tool, called Cognoa. The Cognoa tool is novel because it integrates parent-report questions with clinical ratings of brief video segments uploaded via parent's smartphones to calculate ASD risk. Two hundred thirty children who

Focus on the Social Aspect of Autism

ERIC Educational Resources Information Center

Kaluzna-Czaplinska, Joanna; Zurawicz, Ewa; Józwik-Pruska, Jagoda

2018-01-01

Autism spectrum disorder (ASD) describes a set of neurodevelopmental disorders. Despite extensive ASD research lasting more than 60 years, its causes are still unknown. Without indicating the etiology, its development cannot be stopped. Over the years, both the definition and diagnostic criteria have developed. The number of ASD incidence is…

Neuronal nicotinic acetylcholine receptor subunits in autism: an immunohistochemical investigation in the thalamus.

PubMed

Ray, M A; Graham, A J; Lee, M; Perry, R H; Court, J A; Perry, E K

2005-08-01

The cholinergic system has been implicated in the development of autism on the basis of neuronal nicotinic acetylcholine receptor (nAChR) losses in cerebral and cerebellar cortex. In the present study, the first to explore nAChRs in the thalamus in autism, alpha4, alpha7 and beta2 nAChR subunit expression in thalamic nuclei of adult individuals with autism (n=3) and age-matched control cases (n=3) was investigated using immunochemical methods. Loss of alpha7- and beta2- (but not alpha4-) immunoreactive neurons occurred in the paraventricular nucleus (PV) and nucleus reuniens in autism. Preliminary results indicated glutamic acid decarboxylase immunoreactivity occurred at a low level in PV, co-expressed with alpha7 in normal and autistic cases and was not reduced in autism. This suggested loss of neuronal alpha7 in autism is not caused by loss of GABAergic neurons. These findings indicate nicotinic abnormalities that occur in the thalamus in autism which may contribute to sensory or attentional deficits.

Circulating exosomal miR-27a and miR-130a act as novel diagnostic and prognostic biomarkers of colorectal cancer.

PubMed

Wang, Shukui; Liu, Xiangxiang; Pan, Bei; Sun, Li; Chen, Xiaoxiang; Zeng, Kaixuan; Hu, Xiuxiu; Xu, Tao; Xu, Mu

2018-05-08

Colorectal cancer (CRC) is one of the most common cancers worldwide usually with poor prognosis due to the advanced stage when diagnosed. This study aimed to investigate whether specific circulating exosomal miRNAs could act as biomarkers for early diagnosis of CRC. A total of 369 peripheral blood samples were included in this study. In the discovery phase, circulating exosomal miR-27a and miR-130a were selected after synthetical analysis of two GEO datasets and TCGA database. The differential expression and diagnostic utility of miR-27a and miR-130a panel were validated using quantitative reverse-transcriptase PCR (qRT-PCR) and Receiver operating characteristic (ROC) curve analysis in subsequent training phase, validation phase and external validation phase. The prognosis of circulating exosomal miR-27a and miR-130a were investigated using the Kaplan-Meier method. The expression of exosomal miR-27a and miR-130a in plasma significantly increased in CRC. The area under ROC curves (AUCs) of miR-27a (miR-130a) were 0.773 (0.742) in the training phase, 0.82 (0.787) in the validation phase, and 0.746 (0.697) in the external validation phase. The combination of two miRNAs presented higher diagnostic utility for CRC (AUCs = 0.846, 0.898 and 0.801 for the training, validation, and external validation phases, respectively). CRC patients with high expression of circulating exosomal miR-27a or miR-130a underwent poorer prognosis. We identified a circulating exosomal miRNAs panel for the detection of CRC. The exosomal miR-27a and miR-130a panel in plasma may act as a non-invasive biomarker for early detection and predicting prognosis of CRC. Copyright ©2018, American Association for Cancer Research.

Assessment of Pretend Play in Prader-Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder

ERIC Educational Resources Information Center

Zyga, Olena; Russ, Sandra; Ievers-Landis, Carolyn E.; Dimitropoulos, Anastasia

2015-01-01

Children with Prader-Willi syndrome (PWS) are at risk for autism spectrum disorder (ASD), including pervasive social deficits. While play impairments in ASD are well documented, play abilities in PWS have not been evaluated. Fourteen children with PWS and ten children with ASD were administered the Autism Diagnostic Observation Schedule (ADOS)…

The Accuracy of the ADOS-2 in Identifying Autism among Adults with Complex Psychiatric Conditions

ERIC Educational Resources Information Center

Maddox, Brenna B.; Brodkin, Edward S.; Calkins, Monica E.; Shea, Kathleen; Mullan, Katherine; Hostager, Jack; Mandell, David S.; Miller, Judith S.

2017-01-01

The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), Module 4 is considered a "gold-standard" instrument for diagnosing autism spectrum disorder (ASD) in adults. Although the ADOS-2 shows good sensitivity and specificity in lab-based settings, it is unknown whether these results hold in community clinics that serve a more…

Translating Research to Practice for Children With Autism Spectrum Disorder: Part I: Definition, Associated Behaviors, Prevalence, Diagnostic Process, and Interventions.

PubMed

Johnson, Norah L; Burkett, Karen; Reinhold, Judy; Bultas, Margaret W

2016-01-01

The number of children with autism spectrum disorder (ASD) is rising, along with the potential for challenging behaviors during health care encounters. We present an overview of the emerging science related to ASD diagnosis and interventions for children with ASD. Emerging science on ASD reveals common associated challenging behaviors, increasing prevalence, emphasis on early diagnosis at 18 to 24 months of age, changes in the diagnostic process with criteria from the Diagnostic and Statistical Manual of Mental Disorders, 5th edition, and interventions with medication, education, and behavior management. Family and health care provider preparation strategies facilitate care of children with ASD and their families. Early diagnosis at 18 to 24 months of age and evidence-based interventions contribute to best outcomes for children and families. Health care providers must be aware of the state of the science for diagnosis and best practices to provide family-centered care for this growing population. Copyright © 2016 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

Research note: exceptional absolute pitch perception for spoken words in an able adult with autism.

PubMed

Heaton, Pamela; Davis, Robert E; Happé, Francesca G E

2008-01-01

Autism is a neurodevelopmental disorder, characterised by deficits in socialisation and communication, with repetitive and stereotyped behaviours [American Psychiatric Association (1994). Diagnostic and statistical manual for mental disorders (4th ed.). Washington, DC: APA]. Whilst intellectual and language impairment is observed in a significant proportion of diagnosed individuals [Gillberg, C., & Coleman, M. (2000). The biology of the autistic syndromes (3rd ed.). London: Mac Keith Press; Klinger, L., Dawson, G., & Renner, P. (2002). Autistic disorder. In E. Masn, & R. Barkley (Eds.), Child pyschopathology (2nd ed., pp. 409-454). New York: Guildford Press], the disorder is also strongly associated with the presence of highly developed, idiosyncratic, or savant skills [Heaton, P., & Wallace, G. (2004) Annotation: The savant syndrome. Journal of Child Psychology and Psychiatry, 45 (5), 899-911]. We tested identification of fundamental pitch frequencies in complex tones, sine tones and words in AC, an intellectually able man with autism and absolute pitch (AP) and a group of healthy controls with self-reported AP. The analysis showed that AC's naming of speech pitch was highly superior in comparison to controls. The results suggest that explicit access to perceptual information in speech is retained to a significantly higher degree in autism.

Deletion of acetate transporter gene ADY2 improved tolerance of Saccharomyces cerevisiae against multiple stresses and enhanced ethanol production in the presence of acetic acid.

PubMed

Zhang, Mingming; Zhang, Keyu; Mehmood, Muhammad Aamer; Zhao, Zongbao Kent; Bai, Fengwu; Zhao, Xinqing

2017-12-01

The aim of this work was to study the effects of deleting acetate transporter gene ADY2 on growth and fermentation of Saccharomyces cerevisiae in the presence of inhibitors. Comparative transcriptome analysis revealed that three genes encoding plasma membrane carboxylic acid transporters, especially ADY2, were significantly downregulated under the zinc sulfate addition condition in the presence of acetic acid stress, and the deletion of ADY2 improved growth of S. cerevisiae under acetic acid, ethanol and hydrogen peroxide stresses. Consistently, a concomitant increase in ethanol production by 14.7% in the presence of 3.6g/L acetic acid was observed in the ADY2 deletion mutant of S. cerevisiae BY4741. Decreased intracellular acetic acid, ROS accumulation, and plasma membrane permeability were observed in the ADY2 deletion mutant. These findings would be useful for developing robust yeast strains for efficient ethanol production. Copyright © 2017 Elsevier Ltd. All rights reserved.

Severity of Autism Spectrum Disorders: Current Conceptualization, and Transition to DSM-5

ERIC Educational Resources Information Center

Mehling, Margaret H.; Tassé, Marc J.

2016-01-01

Mirroring the evolution of the conceptualization of autism has been changes in the diagnostic process, including the most recent revisions to the DSM-5 and the addition of severity-based diagnostic modifiers assigned on the basis of intensity of needed supports. A review of recent literature indicates that in research stratifying individuals on…

Prenatal, perinatal, and neonatal factors in autism, pervasive developmental disorder-not otherwise specified, and the general population.

PubMed

Juul-Dam, N; Townsend, J; Courchesne, E

2001-04-01

To examine various pre-, peri-, and neonatal factors in autistic participants and in pervasive developmental disorder-not otherwise specified (PDD-NOS) participants and to compare the incidence of each factor to that of the normal population. Seventy-four participants (66 males, 8 females) were diagnosed with autism at 2.5 through 4 years of age using the most accurate and up-to-date methods, including the Diagnostic and Statistical Manual of Mental Disorders and the Autism Diagnostic Interview-Revised. At age 5, all participants were reevaluated using the Diagnostic and Statistical Manual of Mental Disorders, the Autism Diagnostic Interview-Revised, the Childhood Autism Rating Scale, and the Autism Diagnostic Observation Schedule-Revised, resulting in 61 autistic and 13 PDD-NOS participants. Twenty-eight pre-, peri-, and neonatal factors were examined in these 2 groups using both medical records and parental interviews. Incidences were compared with those of the US population as reported in the Report of Final Natality Statistics, 1995. This grand scale population group was used to closely approximate comparison to a normal, unbiased population. Results were analyzed using the binomial probability test, with a P value of <.05, constituting a significant difference in incidence. A Bonferroni correction was applied to the data to adjust for the number of factors investigated. Although most of the factors showed comparable incidences between the index and control groups, several factors showed statistically significant differences. Following the Bonferroni correction, the autism group was found to have a significantly higher incidence of uterine bleeding, a lower incidence of maternal vaginal infection, and less maternal use of contraceptives during conception when compared with the general population. Similarly, the PDD-NOS group showed a higher incidence of hyperbilirubinemia when compared with the general population. The results of this study support previous

Autism spectrum and attention-deficit disorders in girls. Some neuropsychological aspects.

PubMed

Nydén, A; Hjelmquist, E; Gillberg, C

2000-09-01

This study compared the neuropsychological test profiles of non-mentally retarded girls and boys consecutively referred to a neuropsychiatric clinic and those of contrast cases of girls from mainstream classrooms of one Göteborg school district. To avoid overreliance on the male prototype with regard to diagnostic criteria the clinical group comprised a mixed sample of girls and boys without diagnostic subgrouping. Clinic girls had a lower IQ than comparison girls. Girls were more impaired than the boys with respect to executive functions and scored less well on theory of mind tasks. Previous studies have shown girls with autism and mental retardation to be more severely affected than boys both with regard to level of intellectual functioning and overall measures of brain dysfunction. The present study indicates that clinic girls with a variety of neuropsychiatric disorders at higher levels of intellectual functioning (some of which met diagnostic criteria for autism spectrum disorder) may also be more severely affected than boys with corresponding types of "surface" problems.

The Repetitive Behavior Scale-Revised: Independent Validation in Individuals with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Lam, Kristen S. L.; Aman, Michael G.

2007-01-01

A key feature of autism is restricted repetitive behavior (RRB). Despite the significance of RRBs, little is known about their phenomenology, assessment, and treatment. The Repetitive Behavior Scale-Revised (RBS-R) is a recently-developed questionnaire that captures the breadth of RRB in autism. To validate the RBS-R in an independent sample, we…

Increasing Prevalence, Changes in Diagnostic Criteria, and Nutritional Risk Factors for Autism Spectrum Disorders

PubMed Central

Neggers, Yasmin H.

2014-01-01

The frequency of autism spectrum disorders (ASD) diagnoses has been increasing for decades, but researchers cannot agree on whether the trend is a result of increased awareness, improved detection, expanding definition, or an actual increase in incidence or a combination of these factors. Though both genetic and multiple environmental risk factors have been studied extensively, many potentially modifiable risk factors including nutritional and immune function related risk factors such as vitamin D, folic acid, and metabolic syndrome have not received sufficient attention. Several recent studies have put forward hypotheses to explain the mechanism of association between both folic acid and vitamin D and autism. A continuous rise in the prevalence of autism in the USA has coincided with a significant enhancement of maternal folate status with FDA mandated folic acid fortification of certain foods starting in 1998. There is also a growing body of research that suggests that vitamin D status either in utero or early in life may be a risk for autism. In this communication, controversies regarding increase in estimate of prevalence, implications of changes in definition, and possible association between some modifiable nutritional risk factors such as folic acid and vitamin D and ASD will be discussed. PMID:24967269

Brief Report: DSM-5 Sensory Behaviours in Children with and without an Autism Spectrum Disorder

ERIC Educational Resources Information Center

Green, Dido; Chandler, Susie; Charman, Tony; Simonoff, Emily; Baird, Gillian

2016-01-01

Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual…

Does the Brief Observation of Social Communication Change help moving forward in measuring change in early autism intervention studies?

PubMed

Pijl, Mirjam Kj; Rommelse, Nanda Nj; Hendriks, Monica; De Korte, Manon Wp; Buitelaar, Jan K; Oosterling, Iris J

2018-02-01

The field of early autism research is in dire need of outcome measures that adequately reflect subtle changes in core autistic behaviors. This article compares the ability of a newly developed measure, the Brief Observation of Social Communication Change (BOSCC), and the Autism Diagnostic Observation Schedule (ADOS) to detect changes in core symptoms of autism in 44 toddlers. The results provide encouraging evidence for the Brief Observation of Social Communication Change as a candidate outcome measure, as reflected in sufficient inter- and intra-rater reliability, independency from other child characteristics, and sensitivity to capture change. Although the Brief Observation of Social Communication Change did not evidently outperform the Autism Diagnostic Observation Schedule on any of these quality criteria, the instrument may be better able to capture subtle, individual changes in core autistic symptoms. The promising findings warrant further study of this new instrument.

Tumor necrosis factor-alpha expression in peripheral blood mononuclear cells correlates with early childhood social interaction in autism spectrum disorder.

PubMed

Makinodan, Manabu; Iwata, Keiko; Ikawa, Daisuke; Yamashita, Yasunori; Yamamuro, Kazuhiko; Toritsuka, Michihiro; Kimoto, Sohei; Okumura, Kazuki; Yamauchi, Takahira; Yoshino, Hiroki; Tsujii, Masatsugu; Sugiyama, Toshiro; Tsuchiya, Kenji; Mori, Norio; Matsuzaki, Hideo; Kishimoto, Toshifumi

2017-03-01

Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social interaction, poor communication skills, and repetitive/restrictive behaviors. Elevated blood levels of pro-inflammatory cytokines have been reported in subjects with autism spectrum disorder. On the other hand, early childhood adverse experience also increases blood levels of these cytokines. Since social experience of children with autism spectrum disorder is generally unlike to typically developing children, we hypothesized that social interaction during childhood contribute to pro-inflammatory cytokine expression in subjects with autism spectrum disorder. We compared revised Autism Diagnostic Interview scores and expression levels of pro-inflammatory cytokines in peripheral blood mononuclear cells of subjects with autism spectrum disorder (n = 30). The score of domain A on the revised Autism Diagnostic Interview, indicating social interaction impairment in early childhood, was negatively correlated with tumor necrosis factor-α mRNA expression level in peripheral blood mononuclear cells but not interleukin-1β or -6. Consistently, tumor necrosis factor-α mRNA expression was markedly low in subjects with autism spectrum disorder compared to typically developing children who presumably experienced the regular levels of social interaction. These findings suggest that the low blood levels of tumor necrosis factor-α mRNA in subjects with autism spectrum disorder might be due to impaired social interaction in early childhood. Copyright © 2016 Elsevier Ltd. All rights reserved.

Emergence of Autism Spectrum Disorder in Children from Simplex Families: Relations to Parental Perceptions of Etiology

ERIC Educational Resources Information Center

Goin-Kochel, Robin P.; Mire, Sarah S.; Dempsey, Allison G.

2015-01-01

Current research describes a four-category scheme of Autism Spectrum Disorder (ASD) onset: early, regressive, plateau, delay + regression. To replicate prevalence of different onset types, ASD onset (per the "Autism Diagnostic Interview-Revised") was examined in a large North American sample; for a subset, parents' causal beliefs were…

Investigating the Cross-Cultural Validity of "DSM-5" Autism Spectrum Disorder: Evidence from Finnish and UK Samples

ERIC Educational Resources Information Center

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…

The Mental Health of Individuals Referred for Assessment of Autism Spectrum Disorder in Adulthood: A Clinic Report

ERIC Educational Resources Information Center

Russell, Ailsa J.; Murphy, Clodagh M.; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M.; Craig, Michael C.; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M.; Spain, Deborah; Murphy, Declan G. M.

2016-01-01

Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric…

Autism Spectrum Disorders as a Qualitatively Distinct Category from Typical Behavior in a Large, Clinically Ascertained Sample

ERIC Educational Resources Information Center

Frazier, Thomas W.; Youngstrom, Eric A.; Sinclair, Leslie; Kubu, Cynthia S.; Law, Paul; Rezai, Ali; Constantino, John N.; Eng, Charis

2010-01-01

The present study evaluated the hypothesis that autism spectrum disorders (ASDs) are best represented as a discrete category distinct from typical behavior within autism-affected families. The latent structure, categorical versus dimensional, of ASDs informs future diagnostic revisions, clinical assessment, and the design of future research. Data…

MiR-980 Is a Memory Suppressor MicroRNA that Regulates the Autism-Susceptibility Gene A2bp1.

PubMed

Guven-Ozkan, Tugba; Busto, Germain U; Schutte, Soleil S; Cervantes-Sandoval, Isaac; O'Dowd, Diane K; Davis, Ronald L

2016-02-23

MicroRNAs have been associated with many different biological functions, but little is known about their roles in conditioned behavior. We demonstrate that Drosophila miR-980 is a memory suppressor gene functioning in multiple regions of the adult brain. Memory acquisition and stability were both increased by miR-980 inhibition. Whole cell recordings and functional imaging experiments indicated that miR-980 regulates neuronal excitability. We identified the autism susceptibility gene, A2bp1, as an mRNA target for miR-980. A2bp1 levels varied inversely with miR-980 expression; memory performance was directly related to A2bp1 levels. In addition, A2bp1 knockdown reversed the memory gains produced by miR-980 inhibition, consistent with A2bp1 being a downstream target of miR-980 responsible for the memory phenotypes. Our results indicate that miR-980 represses A2bp1 expression to tune the excitable state of neurons, and the overall state of excitability translates to memory impairment or improvement. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Pulse Oximetry for the Detection of Obstructive Sleep Apnea Syndrome: Can the Memory Capacity of Oxygen Saturation Influence Their Diagnostic Accuracy?

PubMed Central

Nigro, Carlos A.; Dibur, Eduardo; Rhodius, Edgardo

2011-01-01

Objective. To assess the diagnostic ability of WristOx 3100 using its three different recording settings in patients with suspected obstructive sleep apnea syndrome (OSAS). Methods. All participants (135) performed the oximetry (three oximeters WristOx 3100) and polysomnography (PSG) simultaneously in the sleep laboratory. Both recordings were interpreted blindly. Each oximeter was set to one of three different recording settings (memory capabilities 0.25, 0.5, and 1 Hz). The software (nVision 5.1) calculated the adjusted O2 desaturation index-mean number of O2 desaturation per hour of analyzed recording ≥2, 3, and 4% (ADI2, 3, and 4). The ADI2, 3, and 4 cutoff points that better discriminated between subjects with or without OSAS arose from the receiver-operator characteristics (ROCs) curve analysis. OSAS was defined as a respiratory disturbance index (RDI) ≥ 5. Results. 101 patients were included (77 men, mean age 52, median RDI 22.6, median BMI 27.4 kg/m2). The area under the ROCs curves (AUC-ROCs) of ADI2, 3, and 4 with different data storage rates were similar (AUC-ROCs with data storage rates of 0.25/0.5/1 Hz: ADI2: 0.958/0.948/0.965, ADI3: 0.961/0.95/0.966, and ADI4: 0.957/0.949/0.963, P NS). Conclusions. The ability of WristOx 3100 to detect patients with OSAS was not affected by the data storage rate of the oxygen saturation signal. Both memory capacity of 0.25, 0.5, or 1 Hz showed a similar performance for the diagnosis of OSAS. PMID:23471171

Disrupted prediction errors index social deficits in autism spectrum disorder

PubMed Central

Balsters, Joshua H; Apps, Matthew A J; Bolis, Dimitris; Lehner, Rea; Gallagher, Louise; Wenderoth, Nicole

2017-01-01

Abstract Social deficits are a core symptom of autism spectrum disorder; however, the perturbed neural mechanisms underpinning these deficits remain unclear. It has been suggested that social prediction errors—coding discrepancies between the predicted and actual outcome of another’s decisions—might play a crucial role in processing social information. While the gyral surface of the anterior cingulate cortex signalled social prediction errors in typically developing individuals, this crucial social signal was altered in individuals with autism spectrum disorder. Importantly, the degree to which social prediction error signalling was aberrant correlated with diagnostic measures of social deficits. Effective connectivity analyses further revealed that, in typically developing individuals but not in autism spectrum disorder, the magnitude of social prediction errors was driven by input from the ventromedial prefrontal cortex. These data provide a novel insight into the neural substrates underlying autism spectrum disorder social symptom severity, and further research into the gyral surface of the anterior cingulate cortex and ventromedial prefrontal cortex could provide more targeted therapies to help ameliorate social deficits in autism spectrum disorder. PMID:28031223

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

PubMed Central

Moessner, Rainald ; Marshall, Christian R. ; Sutcliffe, James S. ; Skaug, Jennifer ; Pinto, Dalila ; Vincent, John ; Zwaigenbaum, Lonnie ; Fernandez, Bridget ; Roberts, Wendy ; Szatmari, Peter ; Scherer, Stephen W. 

2007-01-01

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing. PMID:17999366