1. Arildskov TW, Hojgaard DR, Skarphedinsson G, Thomsen PH, Ivarsson T, Weidle B, Melin KH, Hybel KA. {{Subclinical autism spectrum symptoms in pediatric obsessive-compulsive disorder}}. {Eur Child Adolesc Psychiatry}. 2015.
The literature on subclinical autism spectrum (ASD) symptoms in pediatric obsessive-compulsive disorder (OCD) is scarce, and it remains unclear whether ASD symptoms are related to OCD severity. The aims of the present study were to assess the prevalence of ASD symptoms and age and sex differences in children and adolescents with OCD, and to explore the relation between ASD symptoms and OCD severity. This is the largest study of ASD symptoms in an OCD population to date, and the first directly aimed at elucidating sex and age differences in this matter. The study used baseline data from the Nordic Long-term OCD Treatment Study in which parents of 257 children and adolescents with OCD aged 7-17 completed the Autism Spectrum Screening Questionnaire. OCD severity was assessed with the Children’s Yale-Brown Obsessive Compulsive Scale. Pediatric OCD patients were found to exhibit elevated rates of ASD symptoms compared to a norm group of school-age children. ASD symptoms were concentrated in a subgroup with a prevalence of 10-17 %. This subgroup was characterized by a male preponderance with a sex ratio of approximately 2.6:1, while children versus adolescents with OCD exhibited similar rates. Autism-specific social and communication difficulties were not related to OCD severity, while restricted repetitive behavior was positively related to OCD severity. The results indicate that clinicians need to be aware of ASD symptoms in children and adolescents with OCD since one out of ten exhibits such symptoms at a clinical sub-threshold.
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2. Bultas MW, Johnson NL, Burkett K, Reinhold J. {{Translating Research to Practice for Children With Autism Spectrum Disorder: Part 2: Behavior Management in Home and Health Care Settings}}. {J Pediatr Health Care}. 2015.
INTRODUCTION: Managing home and health care for children with autism spectrum disorder can be challenging because of the range of symptoms and behaviors exhibited. METHOD: This article presents an overview of the emerging science related to the methods to foster family self-management of common concerns regarding activities of daily living and behaviors, as well as for the health care provider in primary and acute health care settings. RESULTS: Recommendations are provided to enhance the overall delivery of services, including understanding and managing a child’s challenging behaviors, and supporting family management of common activities of daily living and behaviors. DISCUSSION: Health care providers’ knowledge of evidence-based recommendations for providing care, supporting family self-management of common concerns, and referral heighten the likelihood of better outcomes for children with autism spectrum disorder.
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3. Frazier TW, Youngstrom EA, Hardan AY, Georgiades S, Constantino JN, Eng C. {{Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families}}. {Mol Autism}. 2015; 6: 58.
BACKGROUND: Previous studies have demonstrated aggregation of autistic traits in undiagnosed family members of children with autism spectrum disorder (ASD), which has significant implications for ASD risk in their offspring. This study capitalizes upon a large, quantitatively characterized clinical-epidemiologic family sample to establish the extent to which family transmission pattern and sex modulate ASD trait aggregation. METHODS: Data were analyzed from 5515 siblings (2657 non-ASD and 2858 ASD) included in the Interactive Autism Network. Autism symptom levels were measured using the Social Responsiveness Scale (SRS) and by computing Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) symptom scores based on items from the SRS and Social Communication Questionnaire. Generalized estimating equation models evaluated the influence of family incidence types (single versus multiple incidence families; male-only ASD-affected families versus families with female ASD-affected children), diagnostic group (non-ASD children with and without a history of language delay with autistic speech and ASD-affected children), and sibling sex on ASD symptom levels. RESULTS: Non-ASD children manifested elevated ASD symptom burden when they were members of multiple incidence families-this effect was accentuated for male children in female ASD-containing families-or when they had a history of language delay with autistic qualities of speech. In this sample, ASD-affected children from multiple incidence families had lower symptom levels than their counterparts in single incidence families. Recurrence risk for ASD was higher for children from female ASD-containing families than for children from male-only families. CONCLUSIONS: Sex and patterns of family transmission modulate the risk of autism symptom burden in undiagnosed siblings of ASD-affected children. Identification of these symptoms/traits and their molecular genetic causes may have significant implications for genetic counseling and for understanding inherited liabilities that confer risk for ASD in successive generations. Autism symptom elevations were more dramatic in non-ASD children from multiple incidence families and those with a history of language delay and autistic qualities of speech, identifying sub-groups at substantially greater transmission risk. Higher symptom burden and greater recurrence in children from female ASD-containing families indicate that familial aggregation patterns are further qualified by sex-specific thresholds, supportive of the notion that females require a higher burden of deleterious liability to cross into categorical ASD diagnosis.
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4. Han B, Tijus C, Le Barillier F, Nadel J. {{Morphing technique reveals intact perception of object motion and disturbed perception of emotional expressions by low-functioning adolescents with Autism Spectrum Disorder}}. {Res Dev Disabil}. 2015; 47: 393-404.
A morphing procedure has been designed to compare directly the perception of emotional expressions and of moving objects. Morphing tasks were presented to 12 low-functioning teenagers with Autism Spectrum Disorder (LF ASD) compared to 12 developmental age-matched typical children and a group presenting ceiling performance. In a first study, when presented with morphed stimuli of objects and emotional faces, LF ASD showed an intact perception of object change of state together with an impaired perception of emotional facial change of state. In a second study, an eye-tracker recorded visual exploration of morphed emotional stimuli displayed by a human face and a robotic set-up. Facing the morphed robotic stimuli, LF ASD displayed equal duration of fixations toward emotional regions and toward mechanical sources of motion, while the typical groups tracked the emotional regions only. Altogether the findings of the two studies suggest that individuals with ASD process motion rather than emotional signals when facing facial expressions.
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5. Jurgensen S, Castillo PE. {{Selective Dysregulation of Hippocampal Inhibition in the Mouse Lacking Autism Candidate Gene CNTNAP2}}. {J Neurosci}. 2015; 35(43): 14681-7.
Mutations in the human gene encoding contactin-associated protein-like 2 (CNTNAP2) have been strongly associated with autism spectrum disorders (ASDs). Cntnap2(-/-) mice recapitulate major features of ASD, including social impairment, reduced vocalizations, and repetitive behavior. In addition, Cntnap2(-/-) mice show reduced cortical neuronal synchrony and develop spontaneous seizures throughout adulthood. As suggested for other forms of ASDs, this phenotype could reflect some form of synaptic dysregulation. However, the impact of lifelong deletion of CNTNAP2 on synaptic function in the brain remains unknown. To address this issue, we have assessed excitatory and inhibitory synaptic transmission in acute hippocampal slices of Cntnap2(-/-) mice. We found that although excitatory transmission was mostly normal, inhibition onto CA1 pyramidal cells was altered in Cntnap2(-/-) mice. Specifically, putative perisomatic, but not dendritic, evoked IPSCs were significantly reduced in these mice. Whereas both inhibitory short-term plasticity and miniature IPSC frequency and amplitude were normal in Cntnap2(-/-) mice, we found an unexpected increase in the frequency of spontaneous, action potential-driven IPSCs. Altered hippocampal inhibition could account for the behavioral phenotype Cntnap2(-/-) mice present later in life. Overall, our findings that Cntnap2 deletion selectively impairs perisomatic hippocampal inhibition while sparing excitation provide additional support for synaptic dysfunction as a common mechanism underlying ASDs. SIGNIFICANCE STATEMENT: The gene encoding contactin-associated protein-like 2 (CNTNAP2) stands out as one the first genes to have both rare and common mutations strongly associated with ASDs. Whereas Cntnap2(-/-) mice appear to recapitulate core behavioral endophenotypes (e.g., social impairment, language deficits, and repetitive behavior), the cellular and circuit bases of this phenotype remain poorly understood. Here, we report that synaptic inhibition specifically onto the perisomatic compartment of CA1 pyramidal cells is impaired, whereas dendritic inhibition and excitatory transmission remain basically unchanged in Cntnap2(-/-) mice. These findings provide additional support to the notion that disruption of inhibition, in particular perisomatic inhibition onto principal cells, could play a critical role in ASDs.
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6. Kana RK, Maximo JO, Williams DL, Keller TA, Schipul SE, Cherkassky VL, Minshew NJ, Just MA. {{Aberrant functioning of the theory-of-mind network in children and adolescents with autism}}. {Mol Autism}. 2015; 6: 59.
BACKGROUND: Theory-of-mind (ToM), the ability to infer people’s thoughts and feelings, is a pivotal skill in effective social interactions. Individuals with autism spectrum disorders (ASD) have been found to have altered ToM skills, which significantly impacts the quality of their social interactions. Neuroimaging studies have reported altered activation of the ToM cortical network, especially in adults with autism, yet little is known about the brain responses underlying ToM in younger individuals with ASD. This functional magnetic resonance imaging (fMRI) study investigated the neural mechanisms underlying ToM in high-functioning children and adolescents with ASD and matched typically developing (TD) peers. METHODS: fMRI data were acquired from 13 participants with ASD and 13 TD control participants while they watched animations involving two « interacting » geometrical shapes. RESULTS: Participants with ASD showed significantly reduced activation, relative to TD controls, in regions considered part of the ToM network, the mirror network, and the cerebellum. Functional connectivity analyses revealed underconnectivity between frontal and posterior regions during task performance in the ASD participants. CONCLUSIONS: Overall, the findings of this study reveal disruptions in the brain circuitry underlying ToM in ASD at multiple levels, including decreased activation and decreased functional connectivity.
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7. Palermo MT, Bogaerts S. {{Violent Fantasies in Young Men With Autism Spectrum Disorders: Dangerous or Miserable Misfits? Duty to Protect Whom?}}. {Int J Offender Ther Comp Criminol}. 2015.
Predictability of dangerousness in association with mental disorders remains elusive, outside of a few relatively well-established risk factors for the prognostication of violence, such as male sex, the presence of a psychotic disorder, and comorbid substance abuse. In clinical practice, inquiry into the presence of aggressive or violent ideation, in the form of ideas of homicide or suicide, is part of a standard mental status examination. Nonetheless, fantasy life, when it concerns harm toward others, may not be as reliable an indicator of imminent danger as it may be in the case of self-harm. Five cases of young Italian men with Asperger syndrome and recurrent and extremely violent femicide fantasies are presented. While there is no direct correlation between autism spectrum conditions and violence, as other humans, persons with an autistic condition are capable of committing crimes, including homicide. All five had in common a number of characteristics and behaviors felt to be pathoplastic: All had been bullied, all had been romantically rejected, all were long-standing First Person Shooter (FPS) game players, and all were avid violent pornography consumers. The potential for an actual neurocognitive impact of violent video games, well documented in the literature, and its combination with personal life history and chronic habituation following long-standing violent pornography use is discussed in the context of social and emotional vulnerabilities. While aggressive fantasies cannot and should not be underestimated, in countries where duty to protect legislation does not exist, a clinical approach is imperative, as, incidentally, should be anywhere.
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8. Puig-Alcaraz C, Fuentes-Albero M, Calderon J, Garrote D, Cauli O. {{Increased homocysteine levels correlate with the communication deficit in children with autism spectrum disorder}}. {Psychiatry Res}. 2015; 229(3): 1031-7.
The clinical significance of high levels of homocysteine in autism spectrum disorder (ASD) is unknown. An experimental study was conducted in order to evaluate the concentration of homocysteine in children with ASD and typically developing children and to analyse any relationships with the severity of core symptoms of ASD and other clinical features (drugs, co-morbidities, gender, age, diet). Core symptoms of autism were evaluated by DSM-IV criteria. Homocysteine, glutathione, methionine, 3-nitrotyrosine were measured in urine. The increase in homocysteine concentration was significantly and directly correlated with the severity of the deficit in communication skills, but was unrelated to deficit in socialisation or repetitive/restricted behaviour. Urinary homocysteine concentration may be a possible biomarker for communication deficits in ASD and a potential diagnostic tool useful to evaluate new treatment options since no treatment for core symptoms of ASD are available.
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9. Ranger P, Ellenbroek BA. {{Perinatal Influences of Valproate on Brain and Behaviour: An Animal Model for Autism}}. {Curr Top Behav Neurosci}. 2015.
Valproic acid or valproate (VPA) is an anti-convulsant and mood stabiliser effective in treating epilepsy and bipolar disorders. Although in adults VPA is well tolerated and safe, there is convincing evidence that it has teratogenic properties, ranging from mild neurodevelopmental changes to severe congenital malformations. In particular, studies involving humans and other animals have shown that prenatal exposure to VPA can induce developmental abnormalities reminiscent of autism spectrum disorder (ASD). In this chapter, we discuss the connection between VPA and ASD, evaluate the VPA animal model of ASD, and describe the possible molecular mechanisms underlying VPA’s teratogenic properties.
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10. Ryberg KH. {{Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder}}. {J Am Psychiatr Nurses Assoc}. 2015; 21(5): 327-37.
BACKGROUND: The Early Start Denver Model (ESDM) is a manualized comprehensive therapy for toddlers with autism spectrum disorder. It emphasizes interpersonal engagement through synchrony, rhythms, and reciprocity to decrease symptom severity and accelerate cognitive, social-emotional, and language development. OBJECTIVE: To systematically review evidence regarding the use of the ESDM as an intervention for young children with autism spectrum disorder. DESIGN: PubMed, Scopus, Web of Science, Embase, and CINAHL were searched from 2010-2015 using predetermined inclusion criteria. Study methodology, participant characteristics, and outcomes were evaluated and quality of evidence was assigned. RESULTS: Eight articles met inclusion criteria and consisted of two randomized controlled trials, four controlled trials, and two observational cohort studies. Evidence quality ranged from low to high. CONCLUSIONS: The ESDM is an effective intervention that improves cognition, language, and adaptive behavior. ESDM strategies delivered in community group settings and in the home by parents have potential to be efficacious and feasible.
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11. Shannon RA. {{A Clinical Translation of the Article Titled « Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder »}}. {J Am Psychiatr Nurses Assoc}. 2015; 21(5): 338-42.
The purpose of this article is to offer a clinical translation of a literature review titled « Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder » by Ryberg (2015). The literature review was conducted to determine the strength of the research evidence regarding the effectiveness of the Early Start Denver Model in improving cognitive, language, and behavioral functioning of children with autism spectrum disorder. In an effort to narrow the gap between evidence and practice, this clinical translation will discuss the components of the literature review in terms of its rationale for and objectives, methods, results, and implications for evidence-based nursing practice.
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12. Toussaint KA, Kodak T, Vladescu JC. {{An evaluation of choice on instructional efficacy and individual preferences among children with autism}}. {J Appl Behav Anal}. 2015.
The current study compared the differential effects of choice and no-choice reinforcement conditions on skill acquisition. In addition, we assessed preference for choice-making opportunities with 3 children with autism, using a modified concurrent-chains procedure. We replicated the experiment with 2 participants. The results indicated that choice-making opportunities increased treatment efficacy for 2 of the 3 participants, and all 3 participants demonstrated a preference for choice-making opportunities.
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13. Uchino S, Waga C. {{Novel therapeutic approach for autism spectrum disorder: Focus on SHANK3}}. {Curr Neuropharmacol}. 2015.
SHANK3 is a synaptic scaffolding protein and plays an important role in neuronal development. SHANK3 interacts with various synaptic molecules, including post-synaptic density-95 (PSD-95), homer and GluR1 AMPA receptor. SHANK3 gene is a causable gene of the Phelan-McDermid syndrome (also known as the 22q13.3 deletion syndrome), whose manifestation is global developmental delay and autistic behavior, especially shows severe speech and language deficit. Additionally since cumulative gene analysis in autistic subjects identified several mutations in SHANK3 gene, including deletion and duplication in a particular region, abnormality of SHANK3 gene is thought the be related with the neuropathology of autism spectrum disorder (ASD). We here review the recent findings in regard to the roles of SHANK3 in higher brain functions, molecular-biologic studies of the complex expression of Shank3 transcripts and production of SHANK3 isoforms, and behavioral studies of Shank3-mutant mice, including our recent findings, and discuss a novel therapeutic approach for ASD.
14. White SW, DiCriscio AS. {{Introduction to Special Issue ASD in Adulthood: Comorbidity and Intervention}}. {J Autism Dev Disord}. 2015.
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15. Yu B. {{Bilingualism as Conceptualized and Bilingualism as Lived: A Critical Examination of the Monolingual Socialization of a Child with Autism in a Bilingual Family}}. {J Autism Dev Disord}. 2015.
This is an ethnographic and discourse analytic case study of a bilingual, minority-language family of a six-year-old child with autism whose family members were committed to speaking English with him. Drawing on family language policy, the study examines the tensions between the family members’ stated beliefs, management efforts, and their actual practices around language use with their child. The findings show that many assumptions held by family members about language use and bilingualism were inconsistent with their everyday language practices. A practice and discourse-analytic approach to bilingualism offers a theoretical and methodological lens through which to investigate these discrepancies and to recast the interactional achievements between the child and his parents as situated bilingual practices.
