1. Babaknejad N, Sayehmiri F, Sayehmiri K, Mohamadkhani A, Bahrami S. {{The Relationship between Zinc Levels and Autism: A Systematic Review and Meta-analysis}}. {Iran J Child Neurol};2016 (Fall);10(4):1-9.
OBJECTIVE: Autism is a complex behaviorally defined disorder.There is a relationship between zinc (Zn) levels in autistic patients and development of pathogenesis, but the conclusion is not permanent. MATERIALS & METHODS: The present study conducted to estimate this probability using meta-analysis method. In this study, Fixed Effect Model, twelve articles published from 1978 to 2012 were selected by searching Google scholar, PubMed, ISI Web of Science, and Scopus and information were analyzed. I(2) statistics were calculated to examine heterogeneity. The information was analyzed using R and STATA Ver. 12.2. RESULTS: There was no significant statistical difference between hair, nail, and teeth Zn levels between controls and autistic patients: -0.471 [95% confidence interval (95% CI): -1.172 to 0.231]. There was significant statistical difference between plasma Zn concentration and autistic patients besides healthy controls: -0.253 (95% CI: 0.498 to -0.007). Using a Random Effect Model, the overall Integration of data from the two groups was -0.414 (95% CI: -0.878 to -0.051). CONCLUSION: Based on sensitivity analysis, zinc supplements can be used for the nutritional therapy for autistic patients.
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2. Boucher O, Julvez J, Guxens M, Arranz E, Ibarluzea J, Sanchez de Miguel M, Fernandez-Somoano A, Tardon A, Rebagliato M, Garcia-Esteban R, O’Connor G, Ballester F, Sunyer J. {{Association between breastfeeding duration and cognitive development, autistic traits and ADHD symptoms: a multicenter study in Spain}}. {Pediatr Res};2016 (Nov 15)
BACKGROUND: Several studies have related longer breastfeeding duration to better intellectual performance in children. By contrast, few studies have investigated the potential protective effects of breastfeeding against behavioral problems such as attention deficit hyperactivity disorder (ADHD) symptoms, and even fewer on autism spectrum disorders (ASD) traits. METHODS: We examined the association between breastfeeding duration and cognitive development, attention, ADHD symptoms, and autistic traits using data from the INMA Project, a Spanish multicenter birth-cohort study, and taking into account the intensity of breastfeeding. Duration of any, predominant, and exclusive breastfeeding was documented during infancy through maternal questionnaires. Children (N = 1,346; mean age = 4.9 years) were assessed using the McCarthy Scales of Children’s Abilities, Conners’ Kiddie Continuous Performance Test, criteria of the DSM-ADHD symptoms form list, and the Childhood Autism Spectrum Test. RESULTS: After adjustment for several confounders, longer duration of breastfeeding was independently associated with better cognitive development and with fewer autistic traits. CONCLUSION: This study provides further evidence of a positive association of breastfeeding with cognitive function apart from socio-environmental factors, and also suggests a protective role against autistic traits. Results are in agreement with recommendations for prolonged breastfeeding duration to promote child development.
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3. Broquere M, Soussana M, Michelon C, Rattaz C, Brisot J, Baghdadli A. {{[Impact of anxiety disorders on quality of life of adolescents with autism spectrum disorder without intellectual disability]}}. {Encephale};2016 (Nov 11)
INTRODUCTION: The prevalence of anxiety disorders has been recently estimated at 42 % in a population of adolescents with autism spectrum disorder without intellectual disability. This rate is more than two times higher than in adolescents without developmental disorders (around 20 %). Besides, according to recent studies, the quality of life of adolescents with ASD without mental retardation seems to be lower than adolescents with typical development. We guess that anxiety disorders may be responsible for a low quality of life in adolescents with ASD. OBJECTIVES: The aim of this study was to describe the relationship between quality of life and anxiety disorders. The first objective was to determine if anxiety disorders are a risk factor for having a low quality of life in adolescents with ASD. The second objective was to confirm this link with another comparison using a control group of adolescents with an anxiety disorder but without ASD. Our hypothesis was that anxiety disorder is a risk factor to decrease the quality of life of adolescents with ASD. METHODS: This research was a transversal descriptive and comparative study. Sixty-six adolescents aged between 11 and 18years old were included: 46 with ASD without mental retardation and 20 controls (with anxiety disorders without ASD). Among the ASD group, 20 patients were identified as having an anxiety disorder according to international classifications of mental diseases, and 26 adolescents had no psychiatric comorbidity. Quality of Life (QoL) was reported in five domains with the KIDSCREEN-27, for each patient in the three different groups. Diagnosis of anxiety disorders was assessed using the Kiddie-SADS-PL. The level of anxiety was measured with a self-report questionnaire (RC-MAS). We compared the anxiety rates and the QoL levels between the two groups of adolescents with ASD, one with anxiety disorders, the other without anxiety disorder. Comparisons were also made with QoL data from the general population. RESULTS: Quality of life in the two different groups of adolescents with ASD without mental retardation (with and without anxiety disorders) was significantly lower than in adolescents in the general population. Those rates were significantly lower in the group with ASD and anxiety disorders than in the group with ASD without anxiety disorders for the domain of « physical well-being » only. There was no significant difference between the groups regarding the four other domains of the Kidscreen-27. Moreover, there was no difference between adolescents with ASD and adolescents without ASD regarding the perceived level of anxiety. CONCLUSION: This study shows that anxiety disorders could be a risk factor for impairment of the « physical well-being » dimension of QoL in adolescents with ASD without intellectual disability. Results highlight the interest of a self-evaluation of anxiety level in a population of adolescents with ASD. Findings about self-report of QoL might be temper probably due to the insight difficulties that meet patients with ASD reported in literature review. Further research need to be done with larger samples of patients using self-evaluation coupled with hetero-evaluation such as parents’ reports and clinicians’ reports.
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4. Brynskov C, Eigsti IM, Jorgensen M, Lemcke S, Bohn OS, Krojgaard P. {{Syntax and Morphology in Danish-Speaking Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 14)
The current study examined delays in syntax and morphology, and vocabulary, in autism spectrum disorder (ASD). Children ages 4-6 years with ASD (n = 21) and typical development (n = 21), matched on nonverbal mental age, completed five language tasks. The ASD group had significant delays in both syntax and morphology, and vocabulary measures, with significant within-group heterogeneity; furthermore, syntactic and morphological measures were impaired even for subgroups matched on vocabulary. Children in the ASD group without early language delay showed syntactic and morphological impairment, with intact performance on vocabulary and sentence repetition. Findings indicate that syntactic and morphological impairments are a significant concern for high-functioning children with ASD, and may be overlooked if language evaluation focuses exclusively on vocabulary.
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5. Calderoni S, Santocchi E, Del Bianco T, Brunori E, Caponi L, Paolicchi A, Fulceri F, Prosperi M, Narzisi A, Cosenza A, Tancredi R, Muratori F. {{Serological screening for Celiac Disease in 382 pre-schoolers with Autism Spectrum Disorder}}. {Ital J Pediatr};2016 (Nov 16);42(1):98.
BACKGROUND: Recent investigations suggest a possible common genetic background between Autism Spectrum Disorders (ASD) and Celiac Disease (CD). However, studies regarding this association are scarce and often limited by the small sample sizes and/or large heterogeneity among ASD groups in terms of demographic and clinical features. The present study aims to investigate the overall CD prevalence (biopsy proven-CD patients plus screening detected tTG and EMA positive cases) in a large population of pre-schoolers with ASD referred to a tertiary care University Hospital. METHODS: We retrospectively collected data about 382 children (mean age: 46.97 +/- 13.55 months; age-range: 18-72 months) consecutively diagnosed as ASD (according to the Diagnostic and Statistical Manual of Mental Disorders 4th edition criteria) over the period 2010-2013, and who performed a serological CD screening. RESULTS: The overall CD prevalence was 2.62%, which is statistically significant higher to that reported in the Italian paediatric population (p = 0.0246). Half of these children had no symptoms or risk factors related to CD when they performed the serological screening. CONCLUSIONS: If replicated, these data suggest the importance of regular screening for CD in young patients with ASD, and are of relevance for clinical and public health.
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6. Chen CH, Chen HI, Liao HM, Chen YJ, Fang JS, Lee KF, Gau SS. {{Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder}}. {Psychiatr Genet};2016 (Nov 11)
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD. Karyotyping, fluorescent in-situ hybridization analysis, and real time-quantitative PCR were used for validation tests. RESULTS: We completed a genome-wide CNV analysis of 335 patients with ASD from Taiwan. Three unrelated male patients were found to carry three different CNVs at 22q13.3, respectively, including a de novo terminal deletion of approximately 106 kb at 22q13.33, a de novo interstitial duplication of approximately 1.8 Mb at 22q13.32-q13.33, and a microdeletion of approximately 147 kb at 22q13.33. These three CNVs all involved the dosage change of the SHANK3 gene. The last patient also carried a genomic duplication of approximately 3.86 Mb at 19q13.42-q13.4 in addition to a microdeletion of approximately 147 kb at 22q13.33. His younger sister also carried these two CNVs, but she had developmental delay and other neurological deficits without ASD. These two CNVs were transmitted from their unaffected father, who carried a balanced translocation between chromosome 22q and 19q. CONCLUSION: Our data support that recurrent genomic rearrangements at 22q13.3 are part of the genetic landscape of ASD in our patients and changes in SHANK3 dosage are associated with neurodevelopmental disorders. However, the clinical symptoms of patients with 22q13.3 rearrangements can vary depending on other genetic and nongenetic factors, not limited to genes involved in CNVs in this region.
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7. Choi H, Song J, Park G, Kim J. {{Modeling of Autism Using Organoid Technology}}. {Mol Neurobiol};2016 (Nov 14)
Autism is a neurodevelopmental disease caused by multiple mutations during development. However, a suitable disease model to study the molecular pathway of disease onset and progression is not available. Although many studies have used human stem cells such as induced pluripotent stem cells and embryonic stem cells to investigate the disease pathogenesis, these stem cell techniques are limited in their abilities to study the pathology and mechanism of pathogenesis of neurodevelopmental diseases such as autism. Therefore, researchers are focusing on the strengths of three-dimensional (3D) structures mimicking organs, organoids, for modeling autism. In this review, we highlight the advantages of 3D organoid systems to investigate the mechanisms of the pathogenesis of autism. Further, because the onset of autism is determined by genetic background, we suggest the application of the clustered regularly interspersed short palindromic repeat-associated protein 9 (CRISPR/Cas9) technique for genome editing in 3D organoid systems to study mutations that cause autism. We propose that 3D organoid systems combined with the CRISPR/Cas9 technique may advance autism research.
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8. Ferrara R, Ansermet F, Massoni F, Petrone L, Onofri E, Ricci P, Archer T, Ricci S. {{Autism Spectrum Disorder and intact executive functioning}}. {Clin Ter};2016 (Sep-Oct);167(5):e96-e101.
Earliest notions concerning autism (Autism Spectrum Disorders, ASD) describe the disturbance in executive functioning. Despite altered definition, executive functioning, expressed as higher cognitive skills required complex behaviors linked to the prefrontal cortex, are defective in autism. Specific difficulties in children presenting autism or verbal disabilities at executive functioning levels have been identified. Nevertheless, the developmental deficit of executive functioning in autism is highly diversified with huge individual variation and may even be absent. The aim of the present study to examine the current standing of intact executive functioning intact in ASD. RESULTS: Analysis of ASD populations, whether high-functioning, Asperger’s or autism Broad Phenotype, studied over a range of executive functions including response inhibition, planning, cognitive flexibility, cognitive inhibition, and alerting networks indicates an absence of damage/impairment compared to the typically-developed normal control subjects. CONCLUSIONS: These findings of intact executive functioning in ASD subjects provide a strong foundation on which to construct applications for growth environments and the rehabilitation of autistic subjects.
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9. Gordon I, Jack A, Pretzsch CM, Vander Wyk B, Leckman JF, Feldman R, Pelphrey KA. {{Intranasal Oxytocin Enhances Connectivity in the Neural Circuitry Supporting Social Motivation and Social Perception in Children with Autism}}. {Sci Rep};2016 (Nov 15);6:35054.
Oxytocin (OT) has become a focus in investigations of autism spectrum disorder (ASD). The social deficits that characterize ASD may relate to reduced connectivity between brain sites on the mesolimbic reward pathway (nucleus accumbens; amygdala) that receive OT projections and contribute to social motivation, and cortical sites involved in social perception. Using functional magnetic resonance imaging and a randomized, double blind, placebo-controlled crossover design, we show that OT administration in ASD increases activity in brain regions important for perceiving social-emotional information. Further, OT enhances connectivity between nodes of the brain’s reward and socioemotional processing systems, and does so preferentially for social (versus nonsocial) stimuli. This effect is observed both while viewing coherent versus scrambled biological motion, and while listening to happy versus angry voices. Our findings suggest a mechanism by which intranasal OT may bolster social motivation-one that could, in future, be harnessed to augment behavioral treatments for ASD.
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10. Hames EC, Rajmohan R, Fang D, Anderson R, Baker M, Richman DM, O’Boyle M. {{Attentional Networks in Adolescents with High-functioning Autism: An fMRI Investigation}}. {Open Neuroimag J};2016;10:102-110.
BACKGROUND: Attentional deficits in Autism spectrum disorder (ASD) are often noted, but their specific nature remains unclear. OBJECTIVE: The present study used the child Attentional Network Task (Child ANT) in combination with functional magnetic resonance imaging (fMRI) to determine if the consistently cited deficits of orienting attention are truly due to dysfunctions of orienting-based networks. We hypothesized that these observations are, in fact, a reflection of executive dysfunctions. As such, we expected that although ASD adolescents would perform worse on the orienting portion of the Child ANT, the strongest differences in activation between them and the neurotypical (NT) control group would be in areas classically associated with executive functioning (e.g., the frontal gyri and anterior cingulate cortex). METHOD: The brain activity of six high-functioning adolescents with ASD and six NT adolescents was recorded while these individuals performed the three subcomponents of the Child ANT. RESULTS: ASDs were shown to be more accurate than NTs for the alerting, less accurate for the orienting, and similar in accuracy for the executive portions of the Child ANT. fMRI data showed increased bilateral frontal gyri recruitment, areas conventionally associated with executive control, during the orienting task for the ASD group. CONCLUSION: We submit that the increased activations represent neurocorrelates of signal fixation attributable to the subset of executive control responsible for sustained maintenance signals, not the main components of orienting. Therefore, excessive fixation in ASD adolescents is likely due to dysfunctions of executive control and not the orienting subcomponent of the attention network.
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11. Hernandez LM, Krasileva K, Green SA, Sherman LE, Ponting C, McCarron R, Lowe JK, Geschwind DH, Bookheimer SY, Dapretto M. {{Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism}}. {Mol Psychiatry};2016 (Nov 15)
Several common alleles in the oxytocin receptor gene (OXTR) are associated with altered brain function in reward circuitry in neurotypical adults and may increase risk for autism spectrum disorders (ASD). Yet, it is currently unknown how variation in the OXTR relates to brain functioning in individuals with ASD, and, critically, whether neural endophenotypes vary as a function of aggregate genetic risk. Here, for we believe the first time, we use a multi-locus approach to examine how genetic variation across several OXTR single-nucleotide polymorphisms (SNPs) affect functional connectivity of the brain’s reward network. Using data from 41 children with ASD and 41 neurotypical children, we examined functional connectivity of the nucleus accumbens (NAcc) – a hub of the reward network – focusing on how connectivity varies with OXTR risk-allele dosage. Youth with ASD showed reduced NAcc connectivity with other areas in the reward circuit as a function of increased OXTR risk-allele dosage, as well as a positive association between risk-allele dosage and symptom severity, whereas neurotypical youth showed increased NAcc connectivity with frontal brain regions involved in mentalizing. In addition, we found that increased NAcc-frontal cortex connectivity in typically developing youth was related to better scores on a standardized measure of social functioning. Our results indicate that cumulative genetic variation on the OXTR impacts reward system connectivity in both youth with ASD and neurotypical controls. By showing differential genetic effects on neuroendophenotypes, these pathways elucidate mechanisms of vulnerability versus resilience in carriers of disease-associated risk alleles.Molecular Psychiatry advance online publication, 15 November 2016; doi:10.1038/mp.2016.209.
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12. Hsu CW, Teoh YS. {{Investigating Event Memory in Children with Autism Spectrum Disorder: Effects of a Computer-Mediated Interview}}. {J Autism Dev Disord};2016 (Nov 14)
The present study aimed to examine the effects of a novel avatar interviewing aid during memory interviews with children with autism spectrum disorder (ASD). Thirty children were recruited for our study (Age: M = 7.60, SD = 0.68), half with ASD (13 boys; 2 girls) and the other half being neurotypical (13 boys; 2 girls). Children participated in a target event and were subsequently interviewed a week later by either an avatar interviewer or a human. The participants were also asked six misleading questions aimed to examine their suggestibility. Bayesian analysis showed some increase in memory performance for both groups of children interviewed by the avatar interviewer, and this effect exacerbated for children with ASD. These results showed encouraging implications for future applications.
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13. Huang WC, Chen Y, Page DT. {{Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome}}. {Nat Commun};2016 (Nov 15);7:13421.
Multiple autism risk genes converge on the regulation of mTOR signalling, which is a key effector of neuronal growth and connectivity. We show that mTOR signalling is dysregulated during early postnatal development in the cerebral cortex of germ-line heterozygous Pten mutant mice (Pten+/-), which model macrocephaly/autism syndrome. The basolateral amygdala (BLA) receives input from subcortical-projecting neurons in the medial prefrontal cortex (mPFC). Analysis of mPFC to BLA axonal projections reveals that Pten+/- mice exhibit increased axonal branching and connectivity, which is accompanied by increased activity in the BLA in response to social stimuli and social behavioural deficits. The latter two phenotypes can be suppressed by pharmacological inhibition of S6K1 during early postnatal life or by reducing the activity of mPFC-BLA circuitry in adulthood. These findings identify a mechanism of altered connectivity that has potential relevance to the pathophysiology of macrocephaly/autism syndrome and autism spectrum disorders featuring dysregulated mTOR signalling.
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14. Hutton NK, Mitchell C, van der Riet M. {{Assessing an isiZulu questionnaire with educators in primary schools in Pietermaritzburg to establish a baseline of knowledge of Autism Spectrum Disorder}}. {BMC Pediatr};2016 (Nov 14);16(1):185.
BACKGROUND: Autism Spectrum Disorder (ASD) is a significant childhood disorder and has a growing prevalence rate across the world. It has been identified in children from a wide range of racial groups, ethnicities and socio-economic groups, making it a globally relevant disorder. However, a lack of research on ASD in Africa makes it difficult to determine the prevalence rate, presentation and level of knowledge regarding the disorder locally. Therefore, assessing knowledge of ASD amongst professionals is a useful starting point for research in countries where research on ASD is limited. Educators in particular are a vital resource due to the likelihood of their early identification of developmental delays in children of school going age. Awareness studies reveal that professionals have poor awareness of ASD and therefore what educators in South Africa know about ASD needs to be established. METHODS: This study translated the Knowledge about Childhood Autism among Health Workers (KCAHW) questionnaire that was originally designed by Bakare and colleagues (Clinical Practice and Epidemiology in Mental Health 4:17, 2008). The isiZulu KCAHW questionnaire was then used to investigate the level of knowledge of ASD amongst educators in Edendale, Pietermaritzburg, South Africa. Fifty (50) educators consented to complete the questionnaire and the data was analysed using the statistical programme SPSS. RESULTS: The results suggested that educators have an adequate baseline knowledge of ASD but their knowledge was found to be lacking in specific detail. The mean total score for the educator sample was 13.08 (out of a possible 19) which suggested that educators in Edendale, Pietermaritzburg knew 68% of the symptoms covered in the questionnaire. CONCLUSIONS: The isiZulu KCAHW questionnaire appears to be a useful measure for use in the South African context. It provided significant information regarding educator knowledge of ASD in Edendale, Pietermaritzburg. However, the analysis also showed that whilst the educators had an adequate general knowledge of ASD, they lacked specific insight into the disorder, particularly with regards to etiology and age of onset. Furthermore, the results showed that there is an opportunity for further research and interventions to develop knowledge of ASD within the local context in South Africa.
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15. Liratni M, Blanchet C, Pry R. {{[A longitudinal (3 years) study of the development of four children with autism without mental retardation after 90 sessions of social skills training]}}. {Encephale};2016 (Nov 11)
INTRODUCTION: Few studies on social skills training essentially based on ABA techniques are dedicated to children with autism aged 5 to 10 years whereas autistic disorders can be diagnosed in very early childhood. Generally, the main criticisms about these social skills training are: shortness of programs (around 20 sessions), no manual with precise descriptions of sessions and used techniques, and a lack of generalization of the learned skills in everyday life. OBJECTIVES: To describe the evolution (before/after) of symptoms and sociocommunicative skills of 7 children with autism and no mental retardation (mean age=7.08) who participated in 90 sessions (during 3 years) in a learning group of communication and socialization (or LGCS). METHOD: To develop these sessions, we referred to intellectual and verbal levels obtained by the children on The Wechsler Intelligence Scales. We proposed activities such as open discussion, telling about events or vacations, learning of and communicative social rules, social games, outdoor exercises at home or in parks/shops/supermarkets/restaurants with known/unknown children/adults/sellers. To target the social and communicative skills, we also referred to their intellectual level and to Assessment of basic language and learning skills (ABBLS). To practice these sessions, we referred to: (1) TEACCH cognitive ergonomics principles (Treatment and education of autistic and related communication handicapped children developed by Schopler); and especially (2) ABA techniques (Applied behavior analysis) which are rarely mentioned as such. In particular, we used techniques such as: (a) concrete reinforcements which were frequently evaluated; (b) precise levels of verbal incentives and (c) error corrections. To measure the changes, we assessed children with psychometric tests before and after 90 sessions (ADOS and VABS). RESULTS: The scores show significant improvements in autistic symptoms related to communication (ADOS, P=0.03) and significant improvements in both socialization and communication domains (VABS, P=0.00). From a symptomatic point of view (ADOS), we clinically observe better conversation skills and more social initiatives. About socialization and communication behaviors, parents reported (VABS): better listening, better verbal expression, more social relationships and a start of friendship for most of the children. CONCLUSION: This three-year longitudinal follow-up is the first known study about the evolution of children with autistic disorders after a great number of sessions of social skills training. It shows that it is possible to adapt social skills training to young children. In addition, our program and our results (VABS) show clear examples of generalization which is targeted as a weakness in the specialized studies. However, the absence of a control group and of a base line strongly limit our results in terms of effectiveness.
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16. Liu G, Pearl AM, Kong L, Leslie DL, Murray MJ. {{A Profile on Emergency Department Utilization in Adolescents and Young Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Nov 14)
There has been an increase in utilization of the Emergency Department (ED) in individuals with autism spectrum disorder (ASD) which may reflect a deficit of services (Green et al., Journal of the American Academy of Child and Adolescent Psychiatry 40(3):325-332, 2001; Gurney et al., Archives of Pediatric and Adolescent Medicine 160:825-830, 2006; Leichtman et al., American Journal of Orthopsyhciatry 72(2):227-235, 2001). The current study examined the rates of ED utilization between 2005 and 2013 in ASD youth 12- to 21-years-old. Adolescents with ASD accessed ED services four times as often as adolescents without ASD. Older adolescents and those living in rural areas showed a significant increase in ED visits over time. Post hoc analysis revealed increased ED utilization for females and behavioral health ED services over time. Better access to and greater understanding of services for adolescents with ASD is a critical need.
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17. Mitra I, Tsang K, Ladd-Acosta C, Croen LA, Aldinger KA, Hendren RL, Traglia M, Lavillaureix A, Zaitlen N, Oldham MC, Levitt P, Nelson S, Amaral DG, Herz-Picciotto I, Fallin MD, Weiss LA. {{Pleiotropic Mechanisms Indicated for Sex Differences in Autism}}. {PLoS Genet};2016 (Nov);12(11):e1006425.
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance in autism spectrum disorders (ASDs). Potential genetic explanations include a liability threshold model requiring increased polymorphism risk in females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences in hormonal milieu, risk influenced by genes sex-differentially expressed in early brain development, or contribution from general mechanisms of sexual dimorphism shared with secondary sex characteristics. Utilizing a large single nucleotide polymorphism (SNP) dataset, we identify distinct sex-specific genome-wide significant loci. We investigate genetic hypotheses and find no evidence for increased genetic risk load in females, but evidence for sex heterogeneity on the X chromosome, and contribution of sex-heterogeneous SNPs for anthropometric traits to ASD risk. Thus, our results support pleiotropy between secondary sex characteristic determination and ASDs, providing a biological basis for sex differences in ASDs and implicating non brain-limited mechanisms.
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18. Murray BL. {{An Autoethnographic Story of Abuse: Healing and Finding Hope Through a Sexual Health Promotion Project for Adolescents With Developmental Disabilities}}. {J Forensic Nurs};2016 (Oct/Dec);12(4):203-207.
This case report is the story of my son’s alleged abuse, told from my perspective. At the time, Jordan, a boy with Down syndrome, was 14 years old when his disclosure of sexual abuse by a school employee occurred. As part of the healing process, I use autoethnography to tell the story. I also describe and discuss a school-based program, which I developed and deliver, to provide sexual health promotion and sexual abuse prevention to adolescents with developmental disabilities.
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19. Nazeen S, Palmer NP, Berger B, Kohane IS. {{Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities}}. {Genome Biol};2016 (Nov 14);17(1):228.
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that tends to co-occur with other diseases, including asthma, inflammatory bowel disease, infections, cerebral palsy, dilated cardiomyopathy, muscular dystrophy, and schizophrenia. However, the molecular basis of this co-occurrence, and whether it is due to a shared component that influences both pathophysiology and environmental triggering of illness, has not been elucidated. To address this, we deploy a three-tiered transcriptomic meta-analysis that functions at the gene, pathway, and disease levels across ASD and its co-morbidities. RESULTS: Our analysis reveals a novel shared innate immune component between ASD and all but three of its co-morbidities that were examined. In particular, we find that the Toll-like receptor signaling and the chemokine signaling pathways, which are key pathways in the innate immune response, have the highest shared statistical significance. Moreover, the disease genes that overlap these two innate immunity pathways can be used to classify the cases of ASD and its co-morbidities vs. controls with at least 70 % accuracy. CONCLUSIONS: This finding suggests that a neuropsychiatric condition and the majority of its non-brain-related co-morbidities share a dysregulated signal that serves as not only a common genetic basis for the diseases but also as a link to environmental triggers. It also raises the possibility that treatment and/or prophylaxis used for disorders of innate immunity may be successfully used for ASD patients with immune-related phenotypes.
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20. Rava J, Shattuck P, Rast J, Roux A. {{The Prevalence and Correlates of Involvement in the Criminal Justice System Among Youth on the Autism Spectrum}}. {J Autism Dev Disord};2016 (Nov 14)
This study examined the prevalence and correlates of involvement in the criminal justice system among a nationally representative sample of youth with autism. We examined whether youth had been stopped and questioned by police or arrested at 14-15 years old and 21-22 years old. By age 21, approximately 20% of youth with autism had been stopped and questioned by police and nearly 5% had been arrested. Female youth were less likely to be involved in the criminal justice system, whereas youth displaying externalizing behaviors were more likely to be involved in the criminal justice system. Further research is needed to investigate factors associated with involvement in the criminal justice system among youth with autism and to implement prevention strategies.
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21. Umbricht D, Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Scahill L, Noeldeke J, Boak L, Khwaja O, Squassante L, Grundschober C, Kletzl H, Fontoura P. {{A Single Dose, Randomized, Controlled Proof-Of-Mechanism Study of a Novel Vasopressin 1a Receptor Antagonist (RG7713) in High-Functioning Adults with Autism Spectrum Disorder}}. {Neuropsychopharmacology};2016 (Nov 16)
The core symptoms of autism spectrum disorder (ASD) include impaired social communication, repetitive behaviors, and restricted interests. No effective pharmacotherapy for these core deficits exists. Within the domain of social communication, the vasopressin system is implicated in social cognition and social signaling deficits of ASD, and represents a potential therapeutic target. We assessed the effects of a single 20 mg intravenous dose of the arginine vasopressin receptor 1A (V1a) antagonist, RG7713, on exploratory biomarkers (eye tracking), behavioral and clinical measures of social cognition and communication (affective speech recognition (ASR), reading the mind in the eyes, olfactory identification, scripted interaction), and safety and tolerability in a multicenter, randomized, double-blind, placebo-controlled, cross-over study of 19 high-functioning adult male subjects with DSM-IV Autistic Disorder (age 18-45 years; full scale IQ >70; ABC-Irritability subscale 13). Eye-tracking showed an increase in biological motion orienting preference with RG7713 (ES=0.8, p=0.047) and a non-significant improvement in the composite score (ES=0.2, p=0.29). RG7713 reduced ability to detect lust (ES=-0.8, p=0.03) and fear (ES=-0.7, p=0.07) in ASR. However, when all eight individual emotion subscales were combined into an overall ASR performance score, the reduction was non-significant (ES=-0.1, p=0.59). Thirteen adverse events were reported in 10 subjects; all were of mild (11/13) or moderate (2/13) severity. Although interpretation should be cautious due to multiple comparisons and small sample size, these results provide preliminary evidence from experimental and behavioral biomarkers, that blockade of the V1a receptor may improve social communication in adults with high-functioning ASD. ClinicalTrials.gov identifier: NCT01474278 A Study of RO5028442 in Adult Male High-Functioning Autistic Patients. Available at: https://clinicaltrials.gov/ct2/show/NCT01474278Neuropsychopharmacology advance online publication, 16 November 2016; doi:10.1038/npp.2016.232.
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22. Yang D, Pelphrey KA, Sukhodolsky DG, Crowley MJ, Dayan E, Dvornek NC, Venkataraman A, Duncan J, Staib L, Ventola P. {{Brain responses to biological motion predict treatment outcome in young children with autism}}. {Transl Psychiatry};2016 (Nov 15);6(11):e948.
Autism spectrum disorders (ASDs) are common yet complex neurodevelopmental disorders, characterized by social, communication and behavioral deficits. Behavioral interventions have shown favorable results-however, the promise of precision medicine in ASD is hampered by a lack of sensitive, objective neurobiological markers (neurobiomarkers) to identify subgroups of young children likely to respond to specific treatments. Such neurobiomarkers are essential because early childhood provides a sensitive window of opportunity for intervention, while unsuccessful intervention is costly to children, families and society. In young children with ASD, we show that functional magnetic resonance imaging-based stratification neurobiomarkers accurately predict responses to an evidence-based behavioral treatment-pivotal response treatment. Neural predictors were identified in the pretreatment levels of activity in response to biological vs scrambled motion in the neural circuits that support social information processing (superior temporal sulcus, fusiform gyrus, amygdala, inferior parietal cortex and superior parietal lobule) and social motivation/reward (orbitofrontal cortex, insula, putamen, pallidum and ventral striatum). The predictive value of our findings for individual children with ASD was supported by a multivariate pattern analysis with cross validation. Predicting who will respond to a particular treatment for ASD, we believe the current findings mark the very first evidence of prediction/stratification biomarkers in young children with ASD. The implications of the findings are far reaching and should greatly accelerate progress toward more precise and effective treatments for core deficits in ASD.
