1. Barbosa IG, Rodrigues DH, Rocha NP, Sousa LF, Vieira EL, Simoes ESAC, Kummer A, Teixeira AL. {{Plasma levels of alarmin IL-33 are unchanged in autism spectrum disorder: A preliminary study}}. {J Neuroimmunol}. 2015; 278: 69-72.
The pathogenesis of autism spectrum disorder (ASD) is unknown, and the immune system has been appointed to play an important role. The interleukin 33 (IL-33), a member of the IL-1, may act as an alarmin. This study aimed to evaluate plasma levels of IL-33, sST2, and IL-1beta in 30 patients with ASD in comparison with 18 controls matched by gender, age and maternal age at childbirth. Patients did not differ from controls in IL-33, sST2, and IL-1beta plasma levels. Alarmin levels were not correlated with age, and neither was influenced by clinical parameters. Our results undermine the role of IL-33/ST2 in ASD.
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2. Blanken LM, Mous SE, Ghassabian A, Muetzel RL, Schoemaker NK, El Marroun H, van der Lugt A, Jaddoe VW, Hofman A, Verhulst FC, Tiemeier H, White T. {{Cortical Morphology in 6- to 10-Year Old Children With Autistic Traits: A Population-Based Neuroimaging Study}}. {Am J Psychiatry}. 2015: appiajp201414040482.
Objective: Recent evidence suggests that symptoms of social impairment in autism spectrum disorder (ASD) form a spectrum that extends into the general population. However, it is unclear whether the neuroanatomy of ASD also shows a similar continuum in the general population. Therefore, the goal of the present study was to investigate the relationship between cortical morphology and autistic traits along a continuum in a large population-based sample of young children. Method: The study included 717 children, aged 6-10 years, who are participants in the Generation R Study, a large population-based cohort. Autistic traits were measured using the Social Responsiveness Scale when the children were approximately 6 years old. High-resolution MRI was obtained, and morphological measures of the cortex, including cortical thickness and gyrification, were quantified brain-wide. Results: Children with more autistic traits showed widespread areas of decreased gyrification. After excluding children with the highest autistic traits and confirmed ASD, the association remained present in a large cluster involving the left hemisphere temporal and precuneus regions. Comparable, but nonsignificant, effects when comparing a small sample of confirmed ASD case subjects with age- and gender-matched control subjects were observed. Conclusions: Differences in cortical morphology related to autistic traits along a continuum in a large population-based sample of school-aged children were found. Part of these differences remained after excluding the most severely affected children. These findings lend support to an extension of the neurobiology of autistic traits to the general population.
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3. Brandler WM, Sebat J. {{From de novo mutations to personalized therapeutic interventions in autism}}. {Annu Rev Med}. 2015; 66: 487-507.
The high heritability, early age at onset, and reproductive disadvantages of autism spectrum disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo (spontaneous) mutations. Mutation detection by microarray analysis and DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-coding regions of genes contribute to risk, and some of the underlying causal variants and genes have been identified. As our understanding of autism genes develops, the spectrum of autism is breaking up into quanta of many different genetic disorders. Given the diversity of etiologies and underlying biochemical pathways, personalized therapy for ASDs is logical, and clinical genetic testing is a prerequisite.
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4. Desachy G, Croen LA, Torres AR, Kharrazi M, Delorenze GN, Windham GC, Yoshida CK, Weiss LA. {{Increased female autosomal burden of rare copy number variants in human populations and in autism families}}. {Mol Psychiatry}. 2015.
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P=2.1 x 10-5) and gene content (P=4.1 x 10-3). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P=0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons.Molecular Psychiatry advance online publication, 13 January 2015; doi:10.1038/mp.2014.179.
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5. Dinecola CM, Lemieux CM. {{Practice with Persons with Autism Spectrum Disorders: Predictors of Self-Efficacy Among Social Work Students}}. {J Soc Work Disabil Rehabil}. 2015.
Abstract Diagnoses of autism spectrum disorders (ASD) have been on the rise, and the need for knowledgeable and competent professionals is dire. However, few social workers enter the field of ASD. Rooted in social cognitive theory, this study examined the extent to which knowledge, interest, contact, and training predicted MSW students’ self-efficacy in working with individuals with ASD. Approximately 18% of the variance was explained (R2=.18, p<.001), with knowledge and contact predicting a significant proportion of the variance. Implications for social work practice and education are discussed.
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6. El Achkar CM, Spence SJ. {{Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy}}. {Epilepsy Behav}. 2015.
The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure type, infantile spasms, may increase risk, but some of the data are conflicting. We believe that one of the reasons that so little is known about this phenomenon is the lack of cross talk between researchers and clinicians alike in the two fields. We conclude that large systematic studies that employ strict ascertainment of samples using standardized definitions of both disorders, validated data collection tools, and appropriate longitudinal follow-up are needed to better shed light on certain clinical aspects of the comorbidity of ASD and epilepsy. Ideally, we could provide the optimal diagnostic and treatment services to these patients in a multidisciplinary setting with both epilepsy and neurobehavioral specialists. This article is part of a Special Issue entitled « Autism and Epilepsy ».
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7. Gabrielsen TP, Farley M, Speer L, Villalobos M, Baker CN, Miller J. {{Identifying Autism in a Brief Observation}}. {Pediatrics}. 2015.
BACKGROUND: Pediatricians, neurologists, and geneticists are important sources for autism surveillance, screening, and referrals, but practical time constraints limit the clinical utility of behavioral observations. We analyzed behaviors under favorable conditions (ie, video of autism evaluations reviewed by experts) to determine what is optimally observable within 10-minute samples, asked for referral impressions, and compared these to formal screening and developmental testing results. METHODS: Participants (n = 42, aged 15 to 33 months) were typically developing controls and children who screened positive during universal autism screening within a large community pediatric practice. Diagnostic evaluations were performed after screening to determine group status (autism, language delay, or typical). Licensed psychologists with toddler and autism expertise, unaware of diagnostic status, analyzed two 10-minute video samples of participants’ autism evaluations, measuring 5 behaviors: Responding, Initiating, Vocalizing, Play, and Response to Name. Raters were asked for autism referral impressions based solely on individual 10-minute observations. RESULTS: Children who had autism showed more typical behavior (89% of the time) than atypical behavior (11%) overall. Expert raters missed 39% of cases in the autism group as needing autism referrals based on brief but highly focused observations. Significant differences in cognitive and adaptive development existed among groups, with receptive language skills differentiating the 3 groups. CONCLUSIONS: Brief clinical observations may not provide enough information about atypical behaviors to reliably detect autism risk. High prevalence of typical behaviors in brief samples may distort clinical impressions of atypical behaviors. Formal screening tools and general developmental testing provide critical data for accurate referrals.
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8. Gallagher S, Varga S. {{Conceptual issues in autism spectrum disorders}}. {Curr Opin Psychiatry}. 2015.
PURPOSE OF REVIEW: To provide an update on recent studies concerning social cognition in autism spectrum disorders (ASDs), to compare different theoretical approaches used to interpret empirical data, and to highlight a number of conceptual issues. RECENT FINDINGS: In regard to social cognition in ASDs, there is an emerging emphasis on early-onset and prolonged sensory-motor problems. Such sensory-motor problems may fit with the theories of social cognition that emphasize the importance of embodied interaction rather than deficits in mindreading, or they may reflect more general aspects of developmental disorders. SUMMARY: Different theoretical frameworks offer alternative perspectives on the central characteristics in ASDs and motivate different ways of conceptualizing diagnosis and intervention. Theory-of-mind approaches continue to appeal to false-belief paradigms, and debate continues about the performance of individuals with autism. Likewise, there is continuing debate and renewed skepticism about the role of simulation and deficits in the mirror system in ASDs. Growing evidence concerning sensory-motor problems, specifically disrupted patterns in re-entrant (afferent and proprioceptive) sensory feedback across the autistic spectrum, may not only provide support for more embodied interactive approaches, but also suggests that a single approach is unlikely able to explain all social cognition problems in autism. A pluralist approach understands ASDs as involving a variant range of cascading disrupted processes.
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9. Kim E, Camacho J, Combs Z, Ariza J, Lechpammer M, Noctor S, Martinez-Cerdeno V. {{Preliminary findings suggest the number and volume of supragranular and infragranular pyramidal neurons are similar in the anterior superior temporal area of control subjects and subjects with autism}}. {Neurosci Lett}. 2015.
We investigated the cytoarchitecture of the anterior superior temporal area (TA2) of the postmortem cerebral cortex in 9 subjects with autism and 9 age-matched typically developing subjects between the ages of 13 and 56 years. The superior temporal gyrus is involved in auditory processing and social cognition and its pathology has been correlated with autism. We quantified the number and soma volume of pyramidal neurons in the supragranular layers and pyramidal neurons in the infragranular layers in each subject. We did not find significant differences in the number or volume of supragranular or infragranular neurons in the cerebral cortex of subjects with autism compared to typically developing subjects. This report does not support an alteration of supragranular to infragranular neurons in autism. However, further stereological analysis of the number of cells and cell volumes in specific cortical areas is needed to better establish the cellular phenotype of the autistic cerebral cortex and to understand its clinical relevance in autism.
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10. Pace M, Bricout VA. {{Low heart rate response of children with autism spectrum disorders in comparison to controls during physical exercise}}. {Physiol Behav}. 2015; 141C: 63-8.
BACKGROUND: The objective of the study was to investigate how the heart rate adjusts during different physical tests. Children with autism spectrum disorder (ASD) do indeed have a lower cardiac response to specific tests. METHODS: Twenty children including 10 subjects with ASD diagnosis and 10 control subjects were evaluated using the Eurofit Physical Fitness Test Battery. During the evaluation, the heart rate was monitored continuously. In parallel, their parents were completed the Vineland Adaptive Behavior Scales. RESULTS: Both groups show the same trend of heart rate increase (during exercise and also during the maximum effort). However, children with ASD presented a significant lower heart rate compared to the control population (p<0.001). Based on Eurofit Physical Fitness Test battery, children with ASD showed lower results than controls on plate tapping test (p<0.01), vertical and broad jump tests (p<0.01) and also sit up test (p<0.01). Moreover, Flamingo balance test showed that the ASD group had a higher number of falls (p<0.01). The handgrip test showed that they had a lower force (p<0.01) and they also executed the find motor educational course more slowly with a significantly higher number of falls, mistakes and omissions (p<0.01). CONCLUSIONS: Both groups showed similar trend with the cardiac kinetic reflecting the adjustment to the effort. However, the significant heart rate decrease of the ASD group during physical test could be due to an alteration of the cardiac response. In addition, the scores obtained by children with ASD on physical tests confirmed the lack of motor abilities such as balance and executive functions.
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11. Rajan-Babu IS, Teo CR, Lian M, Lee CG, Law HY, Chong SS. {{Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders}}. {Expert Rev Mol Diagn}. 2015: 1-11.
Aim: Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of information. We describe a single-tube methylation-specific triplet-primed PCR assay for concurrently assessing methylation state, repeat size and structure of CGG repeat(s). Methods: Differentially labeled primers specific for methylated and unmethylated FMR1 alleles were used to amplify bisulfite-modified DNA, followed by capillary electrophoresis. Twenty-four reference DNAs and 107 patient samples were analyzed to evaluate assay performance. Results: Repeat size, AGG interruption pattern and methylation state were correctly identified in all tested samples. The assay also detected skewed X-inactivation when present in females, and somatic mosaicism in fragile X males. Conclusion: When used in a molecular diagnostic setting, this novel assay could significantly minimize the need to reflex patient samples for Southern analysis.
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12. Rattaz C, Michelon C, Baghdadli A. {{Symptom severity as a risk factor for self-injurious behaviours in adolescents with autism spectrum disorders}}. {J Intellect Disabil Res}. 2015.
BACKGROUND: Self-injurious behaviours (SIB) are highly prevalent in individuals with autism spectrum disorders (ASD) and have deleterious effects on the individual and their environment. The aim of this study was to examine SIB prevalence and associated features in a population of 152 adolescents with ASD and to determine risk factors for SIB. METHODS: The present study uses a subset of data of a longitudinal follow-up of 152 children with ASD. The presence of a low or high level of self-injury was assessed at adolescence through the Aberrant Behaviour Checklist completed by parents. Clinical and social variables regarding severity of autism symptoms, psychological development, adaptive behaviours, parental quality of life and total intervention time were collected during childhood (mean age = 5 years, SD = 1.6) and at adolescence (mean age = 15 years, SD = 1.3). RESULTS: About 35.8% of adolescents with ASD in our sample displayed self-injury, which was frequently associated with other challenging behaviours and was related to severity of autism symptoms, adaptive skills, intellectual functioning and language level (P < 0.001). The main risk factor for SIB at adolescence was severity of autism symptoms (P = 0.04). Cognitive development during childhood was found to be a protective factor (P = 0.03) whereas at adolescence, the main protective factor was communicative abilities (P = 0.04). CONCLUSIONS: These data showed that SIB remained highly prevalent at adolescence and yielded risk and protective factors for developing SIB at this period of life. Limitations and perspectives for future research are discussed.
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13. Singh SJ, Iacono T, Gray KM. {{Interactions of pre-symbolic children with developmental disabilities with their mothers and siblings}}. {Int J Lang Commun Disord}. 2015.
BACKGROUND: Depending on the severity of their disabilities, children with Down syndrome (DS) and with cerebral palsy (CP) may remain pre-symbolic for prolonged periods of time. When interacting with pre-symbolic children, communication partners have a role in identifying which of their behaviours are communicative, to be able to respond to those behaviours and maintain reciprocal interaction. To date, most research on these children’s communication development has been conducted within the context of mother-child interaction. Seldom have they been observed interacting with other family members, and in interactions other than dyadic, despite these interactions also occurring daily. AIMS: To explore and compare the interaction of mothers and siblings with pre-symbolic children with DS and with CP in dyadic and triadic contexts. METHODS & PROCEDURES: Twelve pre-symbolic children with DS (aged 1;10-5;04 years) and 12 with CP (aged 1;09-5;07 years), and their mothers and siblings participated in this study. They were recruited from early intervention centres from the West Coast of Peninsular Malaysia. Children were observed as they engaged in three play interactions: mother-child, sibling-child and mother-sibling-child (triadic). OUTCOMES & RESULTS: Children produced the most pre-symbolic communicative behaviours during mother-child, followed by triadic and lastly sibling-child interaction, suggesting that the mother’s presence encouraged children to communicate. Mothers created a more facilitative communication environment for the children than did siblings, by directing high rates of initiations towards them and by taking turns that paved the way for the child’s next turn. Although siblings’ low rates of interaction did not provide children with as many opportunities to produce communicative behaviours, it encouraged them to produce high proportions of initiations. During triadic interaction, mothers and siblings had to direct interaction towards two communication partners, causing them to direct less interaction towards the children with DS or CP. There was no significant difference in mother and sibling responsiveness to children’s communicative behaviours across interactions and disability types, suggesting that mothers and siblings might have adapted to the children’s various early communicative behaviours. CONCLUSIONS & IMPLICATIONS: From this study, it was evident that mothers and siblings of pre-symbolic children with DS and with CP engaged them in reciprocal interaction. Findings on how mothers and siblings influence pre-symbolic children’s communication suggest the need to involve them in assessment and intervention for these children.
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14. Suzuki AM, Griesi-Oliveira K, de Oliveira Freitas Machado C, Vadasz E, Zachi EC, Passos-Bueno MR, Sertie AL. {{Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders}}. {Mol Psychiatry}. 2015.
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15. Talalay P, Zimmerman AW. {{Reply to Scahill: Behavioral outcome measures in autism}}. {Proc Natl Acad Sci U S A}. 2015.
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16. Williams K, Brignell A, Prior M, Bartak L, Roberts J. {{Regression in autism spectrum disorders}}. {J Paediatr Child Health}. 2015; 51(1): 61-4.
Since the Journal of Paediatrics and Child Health was first published, there has been substantial change in the field of autism spectrum disorders (ASDs) with an exponential increase in the amount of funded and published research. In this paper, we focus on regression in children with ASD, a phenomenon that remains poorly understood. We discuss the implications of what we know about regression in ASD for the way we think about ASD more broadly and for paediatric practice.
