1. Baird G, Norbury CF. {{Social (pragmatic) communication disorders and autism spectrum disorder}}. {Archives of disease in childhood}. 2015 Dec 23.
Changes have been made to the diagnostic criteria for autism spectrum disorder (ASD) in the recent revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), and similar changes are likely in the WHO International Classification of Diseases (ICD-11) due in 2017. In light of these changes, a new clinical disorder, social (pragmatic) communication disorder (SPCD), was added to the neurodevelopmental disorders section of DSM-5. This article describes the key features of ASD, SPCD and the draft ICD-11 approach to pragmatic language impairment, highlighting points of overlap between the disorders and criteria for differential diagnosis.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bedford R, Pickles A, Lord C. {{Early gross motor skills predict the subsequent development of language in children with autism spectrum disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Dec 22.
BACKGROUND: Motor milestones such as the onset of walking are important developmental markers, not only for later motor skills but also for more widespread social-cognitive development. The aim of the current study was to test whether gross motor abilities, specifically the onset of walking, predicted the subsequent rate of language development in a large cohort of children with autism spectrum disorder (ASD). METHODS: We ran growth curve models for expressive and receptive language measured at 2, 3, 5 and 9 years in 209 autistic children. Measures of gross motor, visual reception and autism symptoms were collected at the 2 year visit. In Model 1, walking onset was included as a predictor of the slope of language development. Model 2 included a measure of non-verbal IQ and autism symptom severity as covariates. The final model, Model 3, additionally covaried for gross motor ability. RESULTS: In the first model, parent-reported age of walking onset significantly predicted the subsequent rate of language development although the relationship became non-significant when gross motor skill, non-verbal ability and autism severity scores were included (Models 2 & 3). Gross motor score, however, did remain a significant predictor of both expressive and receptive language development. CONCLUSIONS: Taken together, the model results provide some evidence that early motor abilities in young children with ASD can have longitudinal cross-domain influences, potentially contributing, in part, to the linguistic difficulties that characterise ASD. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
Lien vers le texte intégral (Open Access ou abonnement)
3. Blackmon K, Ben-Avi E, Wang X, Pardoe HR, Di Martino A, Halgren E, Devinsky O, Thesen T, Kuzniecky R. {{Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder}}. {NeuroImage Clinical}. 2016;10:36-45.
Malformations of cortical development are found at higher rates in autism spectrum disorder (ASD) than in healthy controls on postmortem neuropathological evaluation but are more variably observed on visual review of in-vivo MRI brain scans. This may be due to the visually elusive nature of many malformations on MRI. Here, we utilize a quantitative approach to determine whether a volumetric measure of heterotopic gray matter in the white matter is elevated in people with ASD, relative to typically developing controls (TDC). Data from a primary sample of 48 children/young adults with ASD and 48 age-, and gender-matched TDCs, selected from the Autism Brain Imaging Data Exchange (ABIDE) open-access database, were analyzed to compare groups on (1) blinded review of high-resolution T1-weighted research sequences; and (2) quantitative measurement of white matter hypointensity (WMH) volume calculated from the same T1-weighted scans. Groupwise WMH volume comparisons were repeated in an independent, multi-site sample (80 ASD/80 TDC), also selected from ABIDE. Visual review resulted in equivalent proportions of imaging abnormalities in the ASD and TDC group. However, quantitative analysis revealed elevated periventricular and deep subcortical WMH volumes in ASD. This finding was replicated in the independent, multi-site sample. Periventricular WMH volume was not associated with age but was associated with greater restricted repetitive behaviors on both parent-reported and clinician-rated assessment inventories. Thus, findings demonstrate that periventricular WMH volume is elevated in ASD and associated with a higher degree of repetitive behaviors and restricted interests. Although the etiology of focal WMH clusters is unknown, the absence of age effects suggests that they may reflect a static anomaly.
Lien vers le texte intégral (Open Access ou abonnement)
4. Brodhead MT, Higbee TS, Gerencser KR, Akers JS. {{The use of a discrimination-training procedure to teach mand variability to children with autism}}. {Journal of applied behavior analysis}. 2015 Dec 23.
We investigated the effects of a script-fading and discrimination-training procedure on mand variability in preschoolers with autism. Participants were taught to vary their vocal mands in the presence of written scripts, a green placemat, and a lag schedule of reinforcement. They were also taught to engage in repetitive mands in the presence of the same written scripts and a red placemat. When the scripts were removed, all 3 participants continued to engage in varied manding in the presence of the green placemat and lag schedule, and they continued to engage in repetitive manding in the presence of the red placemat. When the lag schedule was also removed, 2 of the 3 participants continued to engage in varied responding in the presence of the green placemat and repetitive responding in the presence of the red placemat. Finally, all 3 participants demonstrated generalization and maintenance of mand variability during snack sessions with their peers.
Lien vers le texte intégral (Open Access ou abonnement)
5. Byford S, Cary M, Barrett B, Aldred CR, Charman T, Howlin P, Hudry K, Leadbitter K, Le Couteur A, McConachie H, Pickles A, Slonims V, Temple KJ, Green J, Consortium P. {{Cost-effectiveness analysis of a communication-focused therapy for pre-school children with autism: results from a randomised controlled trial}}. {BMC psychiatry}. 2015;15(1):316.
BACKGROUND: Autism is associated with impairments that have life-time consequences for diagnosed individuals and a substantial impact on families. There is growing interest in early interventions for children with autism, yet despite the substantial economic burden, there is little evidence of the cost-effectiveness of such interventions with which to support resource allocation decisions. This study reports an economic evaluation of a parent-mediated, communication-focused therapy carried out within the Pre-School Autism Communication Trial (PACT). METHODS: 152 pre-school children with autism were randomly assigned to treatment as usual (TAU) or PACT + TAU. Primary outcome was severity of autism symptoms at 13-month follow-up. Economic data included health, education and social services, childcare, parental productivity losses and informal care. RESULTS: Clinically meaningful symptom improvement was evident for 53 % of PACT + TAU versus 41 % of TAU (odds ratio 1.91, p = 0.074). Service costs were significantly higher for PACT + TAU (mean difference pound4,489, p < 0.001), but the difference in societal costs was smaller and non-significant (mean difference pound1,385, p = 0.788) due to lower informal care rates for PACT + TAU. CONCLUSIONS: Improvements in outcome generated by PACT come at a cost. Although this cost is lower when burden on parents is included, the cost and effectiveness results presented do not support the cost-effectiveness of PACT + TAU compared to TAU alone. TRIAL REGISTRATION: Current Controlled Trials ISRCTN58133827. Lien vers le texte intégral (Open Access ou abonnement)
6. Deng HZ, You C, Xing Y, Chen KY, Zou XB. {{A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios}}. {Journal of child neurology}. 2015 Dec 21.
Autism spectrum disorder is a group of neurodevelopmental disorders with the higher prevalence in males. Our previous studies have indicated lower progesterone levels in the children with autism spectrum disorder, suggesting involvement of the cytochrome P-450scc gene (CYP11A1) and cytochrome P-45011beta gene (CYP11B1) as candidate genes in autism spectrum disorder. The aim of this study was to investigate the family-based genetic association between single-nucleotide polymorphisms, rs2279357 in the CYP11A1 gene and rs4534 and rs4541 in the CYP11B1 gene and autism spectrum disorder in Chinese children, which were selected according to the location in the coding region and 5′ and 3′ regions and minor allele frequencies of greater than 0.05 in the Chinese populations. The transmission disequilibrium test and case-control association analyses were performed in 100 Chinese Han autism spectrum disorder family trios. The genotype and allele frequency of the 3 single-nucleotide polymorphisms had no statistical difference between the children with autism spectrum disorder and their parents (P > .05). Transmission disequilibrium test analysis showed transmission disequilibrium of CYP11A1 gene rs2279357 single-nucleotide polymorphisms (chi2 = 5.038, P < .001). Our findings provide further support for the hypothesis that a susceptibility gene for autism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population. Lien vers le texte intégral (Open Access ou abonnement)
7. Fischer J, Smith H, Martinez-Pedraza F, Carter AS, Kanwisher N, Kaldy Z. {{Unimpaired attentional disengagement in toddlers with autism spectrum disorder}}. {Developmental science}. 2015 Dec 21.
A prominent hypothesis holds that ‘sticky’ attention early in life in children with autism spectrum disorder (ASD) limits their ability to explore and learn about the world. Under this hypothesis, the core clinical symptoms of ASD – restricted interests, repetitive behaviors and impaired social/communication abilities – could all result from impaired attentional disengagement during development. However, the existence of disengagement deficits in children with ASD is controversial, and a recent study found no deficit in 5- to 12-year-olds with ASD. Nonetheless, the possibility remains that disengagement is impaired earlier in development in children with ASD, altering their developmental trajectory even if the attentional deficit itself is remediated or compensated for by the time children with ASD reach school age. Here, we tested this possibility by characterizing attentional disengagement in a group of toddlers just diagnosed with ASD (age 21 to 37 months). We found strikingly similar performance between the ASD and age-matched typically developing (TD) toddlers, and no evidence of impaired attentional disengagement. These results show that even at a young age when the clinical symptoms of ASD are first emerging, disengagement abilities are intact. Sticky attention is not a fundamental characteristic of ASD, and probably does not play a causal role in its etiology.
Lien vers le texte intégral (Open Access ou abonnement)
8. Goddard MN, van Rijn S, Rombouts SA, Swaab H. {{White matter microstructure in a genetically defined group at increased risk of autism symptoms, and a comparison with idiopathic autism: an exploratory study}}. {Brain imaging and behavior}. 2015 Dec 23.
Klinefelter syndrome (47,XXY) is associated with physical, behavioral, and cognitive consequences. Deviations in brain structure and function have been reported, but structural characteristics of white matter have barely been assessed. This exploratory diffusion tensor imaging study assessed white matter microstructure in boys with 47,XXY compared with non-clinical, male controls. Additionally, both similarities and differences between 47,XXY and autism spectrum disorders (ASD) have been reported in cognition, behavior and neural architecture. To further investigate these brain-behavior pathways, white matter microstructure in boys with 47,XXY was compared to that of boys with ASD. Fractional anisotropy (FA), radial diffusivity (Dr), axial diffusivity (Da), and mean diffusivity (MD) were assessed in 47,XXY (n = 9), ASD (n = 18), and controls (n = 14), using tract-based spatial statistics. Compared with controls, boys with 47,XXY have reduced FA, coupled with reduced Da, in the corpus callosum. Boys with 47,XXY also have reduced Dr. in the left anterior corona radiata and sagittal striatum compared with controls. Compared with boys with ASD, boys with 47,XXY show reduced Da in the right inferior fronto-occipital fasciculus. Although this study is preliminary considering the small sample size, reduced white matter integrity in the corpus callosum may be a contributing factor in the cognitive and behavioral problems associated with 47,XXY. In addition, the differences in white matter microstructure between 47,XXY and ASD may be important for our understanding of the mechanisms that are fundamental to behavioral outcome in social dysfunction, and may be targeted through intervention.
Lien vers le texte intégral (Open Access ou abonnement)
9. Halepoto DM, Bashir S, Zeina R, Al-Ayadhi LY. {{Correlation Between Hedgehog (Hh) Protein Family and Brain-Derived Neurotrophic Factor (BDNF) in Autism Spectrum Disorder (ASD)}}. {Journal of the College of Physicians and Surgeons–Pakistan : JCPSP}. 2015 Dec;25(12):882-5.
OBJECTIVE: To determine the correlation of Sonic Hedgehog (SHH), Indian Hedgehog (IHH), and Brain-Derived Neurotrophic Factor (BDNF) in children with Autism Spectrum Disorder (ASD). STUDY DESIGN: An observational, comparative study. PLACE AND DURATION OF STUDY: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2011 to May 2012. METHODOLOGY: Serum levels of SHH, IHH and BDNF were determined in recently diagnosed autistic patients and agematched healthy children (n=25), using the Enzyme-Linked Immunosorbent Assay (ELISA). Childhood Autism Rating Scale (CARS) was used for the assessment of autistic severity. Spearman correlation co-efficient 'r' was determined. RESULTS: The serum levels of IHH and SHH were significantly higher in autistic subjects than those of control subjects. There was significant correlation between age and IHH (r = 0.176, p = 0.03), BDNF and severe IHH (r = 0.1763, p = 0.003), and severe BDNF and severe SHH (r = 0.143, p < 0.001). However, there were no significant relationships among the serum levels of SHH, IHH and BDNF and the CARS score, age or gender. CONCLUSION: The findings support a correlation between SHH, IHH and BDNF in autistic children, suggesting their pathological role in autism.
Lien vers le texte intégral (Open Access ou abonnement)
10. Nazareth T, Li N, Marynchenko M, Zhou Z, Chopra P, Signorovitch J, Wu E, Ahmed S, Marvel J, Sasane R. {{Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective}}. {Current medical research and opinion}. 2015 Dec 23:1-12.
BACKGROUND: Fragile X syndrome (FXS) is an inherited intellectual disability that imposes a substantial clinical and humanistic burden on patients and caregivers. This study aimed to quantify the incremental burden of illness following FXS diagnosis in Medicaid populations. METHODS: A retrospective matched-cohort study was conducted using FL, NJ, MO, IA, and KS Medicaid claims (1997-2012). Patients with FXS were matched 1:5 to a comparison group without FXS, based on age, gender, state, and continuous Medicaid coverage. Healthcare resource utilization and costs were compared among cohorts over 1 year following first diagnosis. RESULTS: Overall, 697 patients with FXS were matched to 3485 non-FXS patients. Median age was 12.0 years; 82% were male. Newly diagnosed FXS patients were younger (median age: 7.0 years). During the follow-up, patients with FXS had significantly higher medication use, medical procedure use, medical specialist visits, and associated costs than the non-FXS comparison group. One-fourth of FXS patients filled prescriptions for stimulants, antipsychotics, or anticonvulsants; 25% of patients with FXS had speech and language therapy and 39% had physical therapy (versus 9%, 4% and 8%, respectively, for the comparison group). At least 44% of FXS patients visited a neurologist, cardiologist, otolaryngologist, or gastroenterologist; 92% of patients with FXS had an outpatient visit, 35% had an emergency room visit, and 34% used home services (compared to 31%-32%, 64%, 27%, and 10%, respectively, for the comparison group) (all p < 0.05). Patients with FXS had an incremental annual total healthcare cost of $33,409 (2012$) per person relative to the comparison group, while newly diagnosed FXS patients had incremental total annual healthcare costs of $17,617 (2012$) per person. CONCLUSIONS: Both established and newly diagnosed FXS were associated with significantly increased use of multiple medications and medical services, and increased healthcare costs. Treatments that could help reduce this disease burden are urgently needed. Lien vers le texte intégral (Open Access ou abonnement)
11. Padilla N, Eklof E, Martensson GE, Bolte S, Lagercrantz H, Aden U. {{Poor Brain Growth in Extremely Preterm Neonates Long Before the Onset of Autism Spectrum Disorder Symptoms}}. {Cerebral cortex (New York, NY : 1991)}. 2015 Dec 21.
Preterm infants face an increased risk of autism spectrum disorder (ASD). The relationship between autism during childhood and early brain development remains unexplored. We studied 84 preterm children born at <27 weeks of gestation, who underwent neonatal magnetic resonance imaging (MRI) at term and were screened for ASD at 6.5 years. Full-scale intelligence quotient was measured and neonatal morbidities were recorded. Structural brain morphometric studies were performed in 33 infants with high-quality MRI and no evidence of focal brain lesions. Twenty-three (27.4%) of the children tested ASD positive and 61 (72.6%) tested ASD negative. The ASD-positive group had a significantly higher frequency of neonatal complications than the ASD-negative group. In the subgroup of 33 children, the ASD infants had reduced volumes in the temporal, occipital, insular, and limbic regions and in the brain areas involved in social/behavior and salience integration. This study shows that the neonatal MRI scans of extremely preterm children, subsequently diagnosed with ASD at 6.5 years, showed brain structural alterations, localized in the regions that play a key role in the core features of autism. Early detection of these structural alterations may allow the early identification and intervention of children at risk of ASD. Lien vers le texte intégral (Open Access ou abonnement)
12. Panju S, Brian J, Dupuis A, Anagnostou E, Kushki A. {{Atypical sympathetic arousal in children with autism spectrum disorder and its association with anxiety symptomatology}}. {Molecular autism}. 2015;6:64.
BACKGROUND: Autism spectrum disorder (ASD) has been associated with autonomic atypicalities, although the nature of these differences remains largely unknown. Moreover, existing literature suggests large variability in autonomic function in ASD, motivating the need to examine the existence of subgroups that exhibit more homogeneous autonomic features. METHODS: Electrodermal activity (EDA), a non-invasive physiological indicator of autonomic activity, was measured in typically developing children (n = 33) and those with ASD (n = 38) as participants performed tasks that elicit anxiety, attention, response inhibition, and social cognition processes. The ASD group was divided into low- (n = 18) and high-anxiety (n = 20) participants, and the groups were compared to mean EDA level and electrodermal reactions frequency (EDR). RESULTS: The ASD group had a significantly blunted mean EDA response to the anxiety tasks (p < 0.004). The EDR response to all tasks, except response inhibition, was also blunted in the ASD group (p < 0.04). For this group, EDR frequency during the anxiety and social cognition tasks was negatively correlated with behavioral scores in the domains that were probed by each task (p < 0.002). The high-anxiety ASD group showed significantly decreased mean EDA compared to both the low-anxiety ASD group (p = 0.02) and the typically developing control group (p = 0.04). The high-anxiety ASD group also had significantly more severe symptoms than the low-anxiety ASD group on domains related to anxiety, attention, rule breaking, aggression, obsessions and compulsions, and depression. CONCLUSIONS: Our results suggest atypical autonomic function in children with ASD, specifically with respect to sympathetic activity. Moreover, anxiety symptomatology defined subgroups with distinct physiological and behavioral profiles. Overall, the results add to the body of literature supporting autonomic dysfunction in ASD and highlight the role of anxiety and autonomic features in explaining the variability in the autism spectrum. Lien vers le texte intégral (Open Access ou abonnement)
13. Sausmikat J, Smollich M. {{[Nutritional Therapy for Children and Adolescents with Autism Spectrum Disorders: What is the Evidence?]}}. {Klinische Padiatrie}. 2015 Dec 23.
Background: Autism spectrum disorders (ASDs) are a group of developmental disabilities in childhood and adolescence. Beside genetic predisposition also environmental influences may contribute to the ASD pathogenesis. Family members of children and adolescents with ASD often ask for specific diets to alleviate ASD-associated symptoms. The aim of this review is to provide evidence-based data on nutritional interventions for children and adolescents with ASD, thus enabling practitioners to competently assess these diets. Methods: Applying defined inclusion and exclusion criteria, a systematic literature research in PubMed, Cinahl and The Cochrane Library was conducted. Studies published earlier than 1999 were excluded. Study quality was assessed by using the CONSORT, STROBE or PRISMA checklist, respectively. Results: 12 randomised controlled studies and 2 non-controlled studies could be included in the evaluation (n=971). There is no proven efficacy of the widely used gluten-free casein-free diets (GFCF), and no respective predictive marker has been proven significant. Conclusion: Based on available data, no evidence based recommendations regarding nutritional interventions for children and adolescents with autism spectrum disorders can be made. Future studies need to clarify whether particular patients may yet benefit from certain diets.
Lien vers le texte intégral (Open Access ou abonnement)
14. Sedgewick F, Hill V, Yates R, Pickering L, Pellicano E. {{Gender Differences in the Social Motivation and Friendship Experiences of Autistic and Non-autistic Adolescents}}. {Journal of autism and developmental disorders}. 2015 Dec 23.
This mixed-methods study examined gender differences in the social motivation and friendship experiences of adolescent boys and girls with autism relative to those without autism, all educated within special education settings. Autistic girls showed similar social motivation and friendship quality to non-autistic girls, while autistic boys reported having both qualitatively different friendships and less motivation for social contact relative to boys without autism and to girls with and without autism. Semi-structured interviews with the adolescents corroborated these findings, with one exception: autistic girls reported high levels of relational aggression within their friendships, suggesting that girls on the autism spectrum in particular may struggle with identifying and dealing with conflict in their social lives.
Lien vers le texte intégral (Open Access ou abonnement)
15. Stephenson KG, Quintin EM, South M. {{Erratum to: Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders}}. {Journal of autism and developmental disorders}. 2015 Dec 23.
Lien vers le texte intégral (Open Access ou abonnement)
16. Sterponi L, de Kirby K. {{A Multidimensional Reappraisal of Language in Autism: Insights from a Discourse Analytic Study}}. {Journal of autism and developmental disorders}. 2015 Dec 23.
In this article, we leverage theoretical insights and methodological guidelines of discourse analytic scholarship to re-examine language phenomena typically associated with autism. Through empirical analysis of the verbal behavior of three children with autism, we engage the question of how prototypical features of autistic language-notably pronoun atypicality, pragmatic deficit, and echolalia-might conceal competencies and interactional processes that are largely invisible in mainstream research. Our findings offer a complex picture of children with autism in their use of language to communicate, interact and experience others. Such a picture also deepens our understanding of the interactional underpinnings of autistic children’s speech. Finally, we describe how our findings offer fruitful suggestions for clinical intervention.
