1. Balardin JB, Sato JR, Vieira G, Feng Y, Daly E, Murphy C, Murphy D, Ecker C. {{Relationship Between Surface-Based Brain Morphometric Measures and Intelligence in Autism Spectrum Disorders: Influence of History of Language Delay}}. {Autism Res};2015 (Mar 3)
Autism spectrum disorders (ASD) are a group of conditions that show abnormalities in the neuroanatomy of multiple brain regions. The variability in the development of intelligence and language among individuals on the autism spectrum has long been acknowledged, but it remains unknown whether these differences impact on the neuropathology of ASD. In this study, we aimed to compare associations between surface-based regional brain measures and general intelligence (IQ) scores in ASD individuals with and without a history of language delay. We included 64 ASD adults of normal intelligence (37 without a history of language delay and 27 with a history of language delay and 80 neurotypicals). Regions with a significant association between verbal and nonverbal IQ and measures of cortical thickness (CT), surface area, and cortical volume were first identified in the combined sample of individuals with ASD and controls. Thicker dorsal frontal and temporal cortices, and thinner lateral orbital frontal and parieto-occipital cortices were associated with greater and lower verbal IQ scores, respectively. Correlations between cortical volume and verbal IQ were observed in similar regions as revealed by the CT analysis. A significant difference between ASD individuals with and without a history of language delay in the association between CT and verbal IQ was evident in the parieto-occipital region. These results indicate that ASD subgroups defined on the basis of differential language trajectories in childhood can have different associations between verbal IQ and brain measures in adulthood despite achieving similar levels of cognitive performance. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Brezis RS, Weisner TS, Daley TC, Singhal N, Barua M, Chollera SP. {{Parenting a Child with Autism in India: Narratives Before and After a Parent-Child Intervention Program}}. {Cult Med Psychiatry};2015 (Mar 5)
In many low and middle income countries where autism-related resources are scarce, interventions must rely on family and parents. A 3-month Parent-Child Training Program (PCTP) at Action For Autism, New Delhi, India is aimed at empowering and educating parents, encouraging acceptance of their child, and decreasing parent stress. Forty couples were asked to describe their child with autism using the Five Minute Speech Sample (FMSS), an open-ended narrative method, before and after the program. Parents described a wide range of child behaviors, primarily social and cognitive skills. While all families were of a relatively affluent strata compared to the general Indian population, there were nonetheless significant differences in parents’ narratives based on their income levels. Coming into the program, parents with relatively less income focused on their child’s immediate and material needs, while higher income parents discussed their parental roles and vision for society. After the PCTP, parents were more likely to reflect on their child beyond comparisons to ‘normality,’ and beyond the here-and-now. Mothers were more likely than fathers to reflect on themselves and their relationships with their child. Understanding parents’ experiences and narratives is essential for the evaluation of interventions such as the PCTP, as Indian parents are incorporated into a growing global network of ‘parents of children with autism.’
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3. Cassidy S, Mitchell P, Chapman P, Ropar D. {{Processing of Spontaneous Emotional Responses in Adolescents and Adults with Autism Spectrum Disorders: Effect of Stimulus Type}}. {Autism Res};2015 (Mar 3)
Recent research has shown that adults with autism spectrum disorders (ASD) have difficulty interpreting others’ emotional responses, in order to work out what actually happened to them. It is unclear what underlies this difficulty; important cues may be missed from fast paced dynamic stimuli, or spontaneous emotional responses may be too complex for those with ASD to successfully recognise. To explore these possibilities, 17 adolescents and adults with ASD and 17 neurotypical controls viewed 21 videos and pictures of peoples’ emotional responses to gifts (chocolate, a handmade novelty or Monopoly money), then inferred what gift the person received and the emotion expressed by the person while eye movements were measured. Participants with ASD were significantly more accurate at distinguishing who received a chocolate or homemade gift from static (compared to dynamic) stimuli, but significantly less accurate when inferring who received Monopoly money from static (compared to dynamic) stimuli. Both groups made similar emotion attributions to each gift in both conditions (positive for chocolate, feigned positive for homemade and confused for Monopoly money). Participants with ASD only made marginally significantly fewer fixations to the eyes of the face, and face of the person than typical controls in both conditions. Results suggest adolescents and adults with ASD can distinguish subtle emotion cues for certain emotions (genuine from feigned positive) when given sufficient processing time, however, dynamic cues are informative for recognising emotion blends (e.g. smiling in confusion). This indicates difficulties processing complex emotion responses in ASD. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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4. Colvert E, Tick B, McEwen F, Stewart C, Curran SR, Woodhouse E, Gillan N, Hallett V, Lietz S, Garnett T, Ronald A, Plomin R, Rijsdijk F, Happe F, Bolton P. {{Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample}}. {JAMA Psychiatry};2015 (Mar 4)
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 and best-estimate diagnosis) was largely explained by additive genetic factors (76%-95%). For the ADI-R only, shared environmental influences were significant (30% [95% CI, 8%-47%]) but smaller than genetic influences (56% [95% CI, 37%-82%]). Conclusions and Relevance: The liability to ASD and a more broadly defined high-level autism trait phenotype in this large population-based twin sample derives primarily from additive genetic and, to a lesser extent, nonshared environmental effects. The largely consistent results across different diagnostic tools suggest that the results are generalizable across multiple measures and assessment methods. Genetic factors underpinning individual differences in autismlike traits show considerable overlap with genetic influences on diagnosed ASD.
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5. Crafa D, Warfa N. {{Maternal migration and autism risk: Systematic analysis}}. {Int Rev Psychiatry};2015 (Mar 4):1-8.
Autism (AUT) is one of the most prevalent developmental disorders emerging during childhood, and can be amongst the most incapacitating mental disorders. Some individuals with AUT require a lifetime of supervised care. Autism Speaks reported estimated costs for 2012 at pound34 billion in the UK; and $3.2 million-$126 billion in the US, Australia and Canada. Ethnicity and migration experiences appear to increase risks of AUT and relate to underlying biological risk factors. Sociobiological stress factors can affect the uterine environment, or relate to stress-induced epigenetic changes during pregnancy and delivery. Epigenetic risk factors associated with AUT also include poor pregnancy conditions, low birth weight, and congenital malformation. Recent studies report that children from migrant communities are at higher risk of AUT than children born to non-migrant mothers, with the exception of Hispanic children. This paper provides the first systematic review into prevalence and predictors of AUT with a particular focus on maternal migration stressors and epigenetic risk factors. AUT rates appear higher in certain migrant communities, potentially relating to epigenetic changes after stressful experiences. Although AUT remains a rare disorder, failures to recognize its public health urgency and local community needs continue to leave certain cultural groups at a disadvantage.
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6. Damaj L, Lupien-Meilleur A, Lortie A, Riou E, Ospina LH, Gagnon L, Vanasse C, Rossignol E. {{CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms}}. {Eur J Hum Genet};2015 (Mar 4)
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A minority of patients carrying CACNA1A mutations develops epilepsy. Non-motor symptoms associated with these mutations are often overlooked. In this study, we report 16 affected individuals from four unrelated families presenting with a spectrum of cognitive impairment including intellectual deficiency, executive dysfunction, ADHD and/or autism, as well as childhood-onset epileptic encephalopathy with refractory absence epilepsy, febrile seizures, downbeat nystagmus and episodic ataxia. Sequencing revealed one CACNA1A gene deletion, two deleterious CACNA1A point mutations including one known stop-gain and one new frameshift variant and a new splice-site variant. This report illustrates the phenotypic heterogeneity of CACNA1A loss-of-function mutations and stresses the cognitive and epileptic manifestations caused by the loss of CaV2.1 channels function, presumably affecting cerebellar, cortical and limbic networks.European Journal of Human Genetics advance online publication, 4 March 2015; doi:10.1038/ejhg.2015.21.
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7. Gharesouran J, Khalili AF, Azari NS, Vahedi L. {{First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature}}. {Epilepsy Behav Case Rep};2015;3:15-19.
Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Afflicted females show normal development until the age of 6 to 18 months, followed by gradual loss of speech abilities, microcephaly, social impairment, ataxia, and stereotypic hand movements. We report a 7-year-old girl who was born of a nonconsanguineous marriage presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand-wringing movement, short stature (120 cm), strabismus, microcephaly, and autistic behavior. The diagnosis was confirmed by sequencing MECP2 gene with heterozygous mutation C385A in exon 2. The current study aimed to report the first case of Rett syndrome in the Azeri Turkish population.
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8. Hedley D, Nevill RE, Monroy-Moreno Y, Fields N, Wilkins J, Butter E, Mulick JA. {{Efficacy of the ADEC in Identifying Autism Spectrum Disorder in Clinically Referred Toddlers in the US}}. {J Autism Dev Disord};2015 (Mar 4)
The Autism Detection in Early Childhood (ADEC) is a brief, play-based screening tool for the assessment of autism spectrum disorder (ASD) in children aged 12-36 months. We examined the psychometric properties of the ADEC in a clinical sample of toddlers (n = 114) referred to a US pediatric hospital for assessment due to concerns of developmental delay or ASD. The ADEC (cutoff = 11) returned good sensitivity (.93-.94) but poorer specificity (.62-.64) for best estimate clinical diagnosis of ASD, and compared favorably with the ADOS-2. Internal consistency was acceptable, alpha = .80, and inter-rater reliability was high, ICC = .95. Results support the use of the ADEC as a clinical screen for ASD.
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9. Katz N, Dejak I, Gal E. {{Work performance evaluation and QoL of adults with High Functioning Autism Spectrum Disorders (HFASD)}}. {Work};2015 (Mar 3)
BACKGROUND: Studies suggest that adults with High Functioning Autism Spectrum Disorders (HFASD) are reliant on others for support in functioning in everyday life and employment. OBJECTIVES: This study followed a work placement program for people with HFASD over a nine months period. It aimed to measure the trajectory of their work performance and Quality of life on jobs in the open market. METHODS: Twenty-six participants with HFASD ages 18-40 underwent extensive evaluation and based on it were placed in various jobs on the open market. Participants were followed for nine months at their work place at four different time points. QoL was self-assessed in addition to work performance (WPE) which was assessed both by first-hand and team member’s accounts. Team members are health professional who accompany and support the participants in the transition to their jobs.RESULTS: All 26 participants were able to maintain their jobs during the nine months of follow-up. WPE was perceived as high to start with, and its scores slightly improved by both people with HFASD and team members. Self-report suggests a significant change in the quality of life of the participants, specifically in their evaluations of self-competency.CONCLUSIONS: This study enhances the importance of providing people with HFASD with work placing programs and following up during actual work performance.
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10. Martin L, Lang MJ. {{Quantitative autistic traits are transmitted intergenerationally and increase risk for autism spectrum disorders}}. {Evid Based Ment Health};2015 (Mar 3)
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11. Okada T, Ozaki N. {{What is the nature of the autism ‘spectrum’?}}. {Psychiatry Clin Neurosci};2015 (Mar);69(3):129-130.
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12. Pramparo T, Pierce K, Lombardo MV, Carter Barnes C, Marinero S, Ahrens-Barbeau C, Murray SS, Lopez L, Xu R, Courchesne E. {{Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices}}. {JAMA Psychiatry};2015 (Mar 4)
Importance: The identification of genomic signatures that aid early identification of individuals at risk for autism spectrum disorder (ASD) in the toddler period remains a major challenge because of the genetic and phenotypic heterogeneity of the disorder. Generally, ASD is not diagnosed before the fourth to fifth birthday. Objective: To apply a functional genomic approach to identify a biologically relevant signature with promising performance in the diagnostic classification of infants and toddlers with ASD. Design, Setting, and Participants: Proof-of-principle study of leukocyte RNA expression levels from 2 independent cohorts of children aged 1 to 4 years (142 discovery participants and 73 replication participants) using Illumina microarrays. Coexpression analysis of differentially expressed genes between Discovery ASD and control toddlers were used to define gene modules and eigengenes used in a diagnostic classification analysis. Independent validation of the classifier performance was tested on the replication cohort. Pathway enrichment and protein-protein interaction analyses were used to confirm biological relevance of the functional networks in the classifier. Participant recruitment occurred in general pediatric clinics and community settings. Male infants and toddlers (age range, 1-4 years) were enrolled in the study. Recruitment criteria followed the 1-Year Well-Baby Check-Up Approach. Diagnostic judgment followed DSM-IV-TR and Autism Diagnostic Observation Schedule criteria for autism. Participants with ASD were compared with control groups composed of typically developing toddlers as well as toddlers with global developmental or language delay. Main Outcomes and Measures: Logistic regression and receiver operating characteristic curve analysis were used in a classification test to establish the accuracy, specificity, and sensitivity of the module-based classifier. Results: Our signature of differentially coexpressed genes was enriched in translation and immune/inflammation functions and produced 83% accuracy. In an independent test with approximately half of the sample and a different microarray, the diagnostic classification of ASD vs control samples was 75% accurate. Consistent with its ASD specificity, our signature did not distinguish toddlers with global developmental or language delay from typically developing toddlers (62% accuracy). Conclusions and Relevance: This proof-of-principle study demonstrated that genomic biomarkers with very good sensitivity and specificity for boys with ASD in general pediatric settings can be identified. It also showed that a blood-based clinical test for at-risk male infants and toddlers could be refined and routinely implemented in pediatric diagnostic settings.
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13. Salazar F, Baird G, Chandler S, Tseng E, O’Sullivan T, Howlin P, Pickles A, Simonoff E. {{Co-occurring Psychiatric Disorders in Preschool and Elementary School-Aged Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Mar 4)
We employed a clinical sample of young children with ASD, with and without intellectual disability, to determine the rate and type of psychiatric disorders and possible association with risk factors. We assessed 101 children (57 males, 44 females) aged 4.5-9.8 years. 90.5 % of the sample met the criteria. Most common diagnoses were: generalized anxiety disorder (66.5 %), specific phobias (52.7 %) and attention deficit hyperactivity disorder (59.1 %). Boys were more likely to have oppositional defiant disorder (OR 3.9). Higher IQ was associated with anxiety disorders (OR 2.9) and older age with agoraphobia (OR 5.8). Night terrors was associated with parental psychological distress (OR 14.2). Most young ASD children met the criteria for additional psychopathology.
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14. Sarrett JC. {{« Maybe at Birth There was an Injury »: Drivers and Implications of Caretaker Explanatory Models of Autistic Characteristics in Kerala, India}}. {Cult Med Psychiatry};2015 (Mar 5)
Explanatory models (EMs) are the way people explain the presence and meaning of an illness or disability and are reliant on and reflective of culturally specific values of normalcy, disability, health, and illness. EMs about autism spectrum disorder (ASD) are particularly revealing because there is no known cause, and so people can explain this disability in ways more appropriate for and useful to them. This article presents caretaker EMs about children with autistic characteristics in Kerala, India. I argue that the reliance on biological, but not genetic, causal models is reflective of the state’s high access to biomedical heath care. These EMs are used to deflect the stigma of ‘bad blood’ and reflect a nuanced relationship between stigma and biological EMs. Understanding how caretakers talk about ASD and related conditions is critical for anyone interested in engaging in crosscultural or international autism-related work.
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15. Schieve LA, Clayton HB, Durkin MS, Wingate MS, Drews-Botsch C. {{Comparison of Perinatal Risk Factors Associated with Autism Spectrum Disorder (ASD), Intellectual Disability (ID), and Co-occurring ASD and ID}}. {J Autism Dev Disord};2015 (Mar 5)
While studies report associations between perinatal outcomes and both autism spectrum disorder (ASD) and intellectual disability (ID), there has been little study of ASD with versus without co-occurring ID. We compared perinatal risk factors among 7547 children in the 2006-2010 Autism and Developmental Disability Monitoring Network classified as having ASD + ID, ASD only, and ID only. Children in all three groups had higher rates of preterm birth (PTB), low birth weight, small-for-gestational-age, and low Apgar score than expected based on the US birth cohort adjusted for key socio-demographic factors. Associations with most factors, especially PTB, were stronger for children with ID only than children with ASD + ID or ASD only. Associations were similar for children with ASD + ID and ASD only.
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16. Schlenz AM, Carpenter LA, Bradley C, Charles J, Boan A. {{Age Differences in Emergency Department Visits and Inpatient Hospitalizations in Preadolescent and Adolescent Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord};2015 (Mar 5)
This paper evaluated age differences in emergency department care and inpatient hospitalizations in 252 preadolescent and adolescent youth with autism spectrum disorders (ASDs; ages 9-18). Records from youth with ASDs were linked to acute care utilization records and were compared to a demographically similar comparison group of youth without ASDs (N = 1260). A particular focus was placed on utilization for psychiatric concerns and injuries or accidents. Results suggested that psychiatric care was more likely for youth with ASDs in both the preadolescent and adolescent cohorts versus comparison youth, with no significant differences between age cohorts. In contrast, results for the accident and injury categories suggested age-specific findings. Results suggest opportunities for prevention efforts for youth with ASDs.
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17. Schreibman L, Dawson G, Stahmer AC, Landa R, Rogers SJ, McGee GG, Kasari C, Ingersoll B, Kaiser AP, Bruinsma Y, McNerney E, Wetherby A, Halladay A. {{Naturalistic Developmental Behavioral Interventions: Empirically Validated Treatments for Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Mar 4)
Earlier autism diagnosis, the importance of early intervention, and development of specific interventions for young children have contributed to the emergence of similar, empirically supported, autism interventions that represent the merging of applied behavioral and developmental sciences. « Naturalistic Developmental Behavioral Interventions (NDBI) » are implemented in natural settings, involve shared control between child and therapist, utilize natural contingencies, and use a variety of behavioral strategies to teach developmentally appropriate and prerequisite skills. We describe the development of NDBIs, their theoretical bases, empirical support, requisite characteristics, common features, and suggest future research needs. We wish to bring parsimony to a field that includes interventions with different names but common features thus improving understanding and choice-making among families, service providers and referring agencies.
