1. Balestrieri E, Cipriani C, Matteucci C, Capodicasa N, Pilika A, Korca I, Sorrentino R, Argaw-Denboba A, Bucci I, Miele MT, Coniglio A, Alessandrelli R, Sinibaldi Vallebona P. {{Transcriptional activity of human endogenous retrovirus in Albanian children with autism spectrum disorders}}. {New Microbiol};2016 (Sep);39(3):228-231.
Recent studies suggest that autism spectrum disorders (ASD) result from interactions between genetic and environmental factors, whose possible links could be represented by epigenetic mechanisms. Here, we investigated the transcriptional activity of three human endogenous retrovirus (HERV) families, in peripheral blood mononuclear cells (PBMCs) from Albanian ASD children, by quantitative real-time PCR. We aimed to confirm the different expression profile already found in Italian ASD children, and to highlight any social and family health condition emerging from information gathered through a questionnaire, to be included among environmental risk factors. The presence of increased HERV-H transcriptional activity in all autistic patients could be understood as a constant epigenetic imprinting of the disease, potentially useful for early diagnosis and for the development of effective novel therapeutic strategies.
2. Bennett C. {{New Jersey Furthers Autisim Treatment and Research}}. {MD Advis};2015 (Fall);8(4):18-20.
3. Chen J, Wu W, Fu Y, Yu S, Cui D, Zhao M, Du Y, Li J, Li X. {{Increased expression of fatty acid synthase and acetyl-CoA carboxylase in the prefrontal cortex and cerebellum in the valproic acid model of autism}}. {Exp Ther Med};2016 (Sep);12(3):1293-1298.
The primary aim of the present study was to investigate alterations in enzymes associated with fatty acid synthesis, namely fatty acid synthase (FASN) and acetyl-CoA carboxylase (ACC), in the prefrontal cortex and cerebellum of the valproic acid (VPA)-induced animal model of autism. In this model, pregnant rats were given a single intraperitoneal injection of VPA, and prefrontal cortex and cerebellum samples from their pups were analyzed. The results of western blotting and reverse transcription-quantitative polymerase chain reaction analyses demonstrated that the protein and mRNA expression levels of FASN, ACC and phospho-ACC (pACC) were increased in the prefrontal cortex and cerebellum of the VPA model of autism. Furthermore, in the prefrontal cortex and cerebellum of the VPA model of autism, AMPK expression is increased, whereas PI3K and Akt expression are unchanged. This suggests that disorder of the phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K)/Akt/FASN and/or adenosine 5′-monophosphate-activated protein kinase (AMPK)/ACC pathway may be involved in the pathogenesis of autism. It is hypothesized that fatty acid synthesis participates in autism through PI3K/Akt/FASN and AMPK/ACC pathways.
Lien vers le texte intégral (Open Access ou abonnement)
4. Cheon KA, Park JI, Koh YJ, Song J, Hong HJ, Kim YK, Lim EC, Kwon H, Ha M, Lim MH, Paik KC, Constantino JN, Leventhal B, Kim YS. {{The social responsiveness scale in relation to DSM IV and DSM5 ASD in Korean children}}. {Autism Res};2016 (Sep 8)
The Social Responsiveness Scale (SRS) is an autism rating scales in widespread use, with over 20 official foreign language translations. It has proven highly feasible for quantitative ascertainment of autistic social impairment in public health settings, however, little is known about the validity of the reinforcement in Asia populations or in references to DSM5. The current study aims to evaluate psychometric properties and cross-cultural aspects of the SRS-Korean version (K-SRS).The study subjects were ascertained from three samples: a general sample from 3 regular education elementary schools (n=790), a clinical sample (n=154) of 6-12-year-olds from four psychiatric clinics, and an epidemiological sample of children with ASD, diagnosed using both DSM IV PDD, DSM5 ASD and SCD criteria (n=151). Their parents completed the K-SRS and the Autism Spectrum Screening Questionnaire(ASSQ). Descriptive statistics, correlation analyses and principal components analysis (PCA) were performed on the total population. Mean total scores on the K-SRS differed significantly between the three samples. ASSQ scores were significantly correlated with the K-SRS T-scores. PCA suggested a one-factor solution for the total population.Our results indicate that the K-SRS exhibits adequate reliability and validity for measuring ASD symptoms in Korean children with DSM IV PDD and DSM5 ASD. Our findings further suggest that it is difficult to distinguish SCD from other child psychiatric conditions using the K-SRS.This is the first study to examine the relationship between the SRS subscales and DSM5-based clinical diagnoses. This study provides cross-cultural confirmation of the factor structure for ASD symptoms and traits measured by the SRS. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
5. Esanov R, Andrade NS, Bennison S, Wahlestedt C, Zeier Z. {{The FMR1 promoter is selectively hydroxymethylated in primary neurons of Fragile X Syndrome patients}}. {Hum Mol Genet};2016 (Sep 5)
Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form of heritable intellectual disability and autism. Full mutations larger than 200 CGG repeats trigger FMR1 heterochromatinization and loss of gene expression, which is primarily responsible for the pathological features of FXS (1). In contrast, smaller pre-mutations of 55-200 CGG are associated with FMR1 overexpression and Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative condition (2). While the role of 5-methylcytosine (5mC) in FMR1 gene silencing has been studied extensively, the role of 5-hydroxymethylation (5hmC), a newly discovered epigenetic mark produced through active DNA demethylation, has not been previously investigated in FXS neurons. Here, we used two complementary epigenetic assays, 5hmC sensitive restriction digest and TET-assisted bisulfite pyrosequencing, to quantify FMR1 5mC and 5hmC levels. We observed increased levels of 5hmC at the FMR1 promoter in FXS patient brains with full-mutations relative to pre-mutation carriers and unaffected controls. In addition, we found that 5hmC enrichment at the FMR1 locus in FXS cells is specific to neurons by utilizing a nuclei sorting technique to separate neuronal and glial DNA fractions from post-mortem brain tissues. This FMR1 5hmC enrichment was not present in cellular models of FXS including fibroblasts, lymphocytes and reprogrammed neurons, indicating they do not fully recapitulate this epigenetic feature of disease. Future studies could investigate the potential to leverage this epigenetic pathway to restore FMR1 expression and discern whether levels of 5hmC correlate with phenotypic severity.
Lien vers le texte intégral (Open Access ou abonnement)
6. Haebig E, Sterling A, Hoover J. {{Examining the Language Phenotype in Children With Typical Development, Specific Language Impairment, and Fragile X Syndrome}}. {J Speech Lang Hear Res};2016 (Sep 8):1-13.
Purpose: One aspect of morphosyntax, finiteness marking, was compared in children with fragile X syndrome (FXS), specific language impairment (SLI), and typical development matched on mean length of utterance (MLU). Method: Nineteen children with typical development (mean age = 3.3 years), 20 children with SLI (mean age = 4.9 years), and 17 boys with FXS (mean age = 11.9 years) completed the Test of Early Grammatical Impairment (TEGI; Rice & Wexler, 2001), and other cognitive and language assessments. Quantitative comparisons on finiteness marking and qualitative comparisons of unscorable (i.e., nontarget) TEGI responses were conducted. Results: Children with typical development and FXS performed better on finiteness marking than children with SLI. Although unscorable responses were infrequent, boys with FXS produced more unscorable responses than children with typical development and SLI. Conclusions: Although boys with FXS have language deficits, they performed similarly to MLU-matched typically developing children on finiteness marking. This language profile differs from children with SLI, who present with a delay-within-a-delay profile with finiteness marking delays that exceed delays in MLU. Unscorable responses produced by the boys with FXS may reflect pragmatic deficits, which are prominent in this population. Assessment procedures should be carefully considered when examining language in boys with FXS.
Lien vers le texte intégral (Open Access ou abonnement)
7. Jaber M. {{[The cerebellum as a major player in motor disturbances related to Autistic Syndrome Disorders]}}. {Encephale};2016 (Sep 8)
SCIENTIFIC BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental disorders associated with disturbances in communication, social interactions, cognition and affect. ASD are also accompanied by complex movement disorders, including ataxia. A special focus of recent research in this area is made on the striatum and the cerebellum, two structures known not only to control movement but also to be involved in cognitive functions such as memory and language. Dysfunction within the motor system may be associated with abnormal movements in ASD that are translated into ataxia, abnormal pattern of righting, gait sequencing, development of walking, and hand positioning. This line of study may generate new knowledge and understanding of motor symptoms associated with ASD and aims to deliver fresh perspectives for early diagnosis and therapeutic strategies against ASD. AIMS OF THE REVIEW: Despite the relative paucity of research in this area (compared to the social, linguistic, and behavioural disturbances in ASD), there is evidence that the frontostriatal motor system and/or the cerebellar motor systems may be the site of dysfunction in ASD. Indeed, the cerebellum seems to be essential in the development of basic social capabilities, communication, repetitive/restrictive behaviors, and motor and cognitive behaviors that are all impaired in ASD. Cerebellar neuropathology including cerebellar hypoplasia and reduced cerebellar Purkinje cell numbers are the most consistent neuropathologies linked to ASD. The functional state of the cerebellum and its impact on brain function in ASD is the focus of this review. This review starts by recapitulating historical findings pointing towards an implication of the cerebellum, and to a lesser extent the basal ganglia structures, in TSA. We then detail the structure/function of the cerebellum at the regional and cellular levels before describing human and animal findings indicating a role of the cerebellum and basal ganglia in ASD. HUMAN AND ANIMAL FINDINGS: Several studies have attempted to identify the nature of the motor system dysfunction in ASD, and it became apparent that the motor fronto-striatal and cerebellar systems are major sites of dysfunction in this psychiatric illness. Anomalies in these structures have been revealed both at the anatomical and functional levels in human patients as well as in animal models. These models are obtained by manipulation of genes that are often implicated in glutamate transmission, by lesions of brain structures among which the cerebellum, by pharmacological treatment with drugs such as the Valproate or by maternal infections with bacterial membrane extracts of double stranded RNA mimicking a viral infection. CONCLUSION: The « cognitive approach » has dominated ASD research for three decades and led to the design of interventional strategies, which have yielded satisfactory results. Nevertheless, new approaches and alternative hypotheses on the aetiology and diagnosis of ASD are needed. Research focused on motor rather than psychiatric symptoms may have a greater potential to elucidate the neurobiological basis of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Juczewski K, von Richthofen H, Bagni C, Celikel T, Fisone G, Krieger P. {{Somatosensory map expansion and altered processing of tactile inputs in a mouse model of fragile X syndrome}}. {Neurobiol Dis};2016 (Sep 8)
Fragile X syndrome (FXS) is a common inherited form of intellectual disability caused by the absence or reduction of the fragile X mental retardation protein (FMRP) encoded by the FMR1 gene. In humans, one symptom of FXS is hypersensitivity to sensory stimuli, including touch. We used a mouse model of FXS (Fmr1 KO) to study sensory processing of tactile information conveyed via the whisker system. In vivo electrophysiological recordings in somatosensory barrel cortex showed layer-specific broadening of the receptive fields at the level of layer 2/3 but not layer 4, in response to whisker stimulation. Furthermore, the encoding of tactile stimuli at different frequencies was severely affected in layer 2/3. The behavioral effect of this broadening of the receptive fields was tested in the gap-crossing task, a whisker-dependent behavioral paradigm. In this task the Fmr1 KO mice showed differences in the number of whisker contacts with platforms, decrease in the whisker sampling duration and reduction in the whisker touch-time while performing the task. We propose that the increased excitability in the somatosensory barrel cortex upon whisker stimulation may contribute to changes in the whisking strategy as well as to other observed behavioral phenotypes related to tactile processing in Fmr1 KO mice.
Lien vers le texte intégral (Open Access ou abonnement)
9. Katayama Y, Nishiyama M, Shoji H, Ohkawa Y, Kawamura A, Sato T, Suyama M, Takumi T, Miyakawa T, Nakayama KI. {{CHD8 haploinsufficiency results in autistic-like phenotypes in mice}}. {Nature};2016 (Sep 7)
Autism spectrum disorder (ASD) comprises a range of neurodevelopmental disorders characterized by deficits in social interaction and communication as well as by restricted and repetitive behaviours. ASD has a strong genetic component with high heritability. Exome sequencing analysis has recently identified many de novo mutations in a variety of genes in individuals with ASD, with CHD8, a gene encoding a chromatin remodeller, being most frequently affected. Whether CHD8 mutations are causative for ASD and how they might establish ASD traits have remained unknown. Here we show that mice heterozygous for Chd8 mutations manifest ASD-like behavioural characteristics including increased anxiety, repetitive behaviour, and altered social behaviour. CHD8 haploinsufficiency did not result in prominent changes in the expression of a few specific genes but instead gave rise to small but global changes in gene expression in the mouse brain, reminiscent of those in the brains of patients with ASD. Gene set enrichment analysis revealed that neurodevelopment was delayed in the mutant mouse embryos. Furthermore, reduced expression of CHD8 was associated with abnormal activation of RE-1 silencing transcription factor (REST), which suppresses the transcription of many neuronal genes. REST activation was also observed in the brains of humans with ASD, and CHD8 was found to interact physically with REST in the mouse brain. Our results are thus consistent with the notion that CHD8 haploinsufficiency is a highly penetrant risk factor for ASD, with disease pathogenesis probably resulting from a delay in neurodevelopment.
Lien vers le texte intégral (Open Access ou abonnement)
10. Kramer K, Gawronski A, Vogeley K. {{[Diagnosis and Therapeutic Interventions in Autism Spectrum Disorders in Adulthood]}}. {Fortschr Neurol Psychiatr};2016 (Sep);84(9):578-588.
Autism spectrum disorders (ASD) are characterized by disturbed social interaction and communication as well as stereotyped or repetitive behaviors and interests. Although adults with ASD often acquire complex compensatory strategies that help them master social situations in a rule-based fashion, they still show impairments in intuitive processing of social signals and especially nonverbal communication in complex everyday situations. This constitutes a particular challenge for the psychotherapy of ASD. Psychotherapists are required to explicitly inform and act as an agent of the non-autistic world to enable patients to acquire the ability to take different perspectives. The overall aim of cognitive behavioral therapy interventions addressing ASD in adulthood is to extend the patients’ behavioral repertoire to improve their quality of life. Thus, besides psychoeducation on ASD and its frequently associated comorbidities, psychotherapy for adults with ASD should focus on the training and development of social-communicative skills. Furthermore, dealing with stress in everyday situations is an important aspect of psychotherapy of these patients.
Lien vers le texte intégral (Open Access ou abonnement)
11. Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. {{Clinicians’ experiences with the fragile X clinical and research consortium}}. {Am J Med Genet A};2016 (Sep 8)
The objectives of the study were to assess the attitudes and experiences of clinicians involved in a consortium of clinics serving people with fragile X-associated disorders to gauge satisfaction with the consortium and its efforts to improve quality of life for patients and the community. An internet survey was sent to 26 fragile X (FX) clinic directors participating in the Fragile X Clinical and Research Consortium (FXCRC). Respondents were asked to complete 19 questions on consortium performance and outcomes relevant for their own clinic. The response rate was 84% (22/26), with two surveys providing incomplete data. Assistance with clinic establishment, opportunities for research collaborations, and access to colleagues and information were highly valued. Approximately 76% of clinicians reported improvements in patient care and 60% reported an increase in patient services. There was a 57% increase in participation in a FX-related clinical trial among clinics since joining the FXCRC (24% vs. 81%). Overall, respondents reported primarily positive experiences from participation in the FXCRC. Common suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes. Additionally, a Clinic Services Checklist was administered annually to examine changes in services offered over time. There were several important changes regarding the provision of services by clinics, often with multiple clinics changing with respect to a service. In conclusion, the FXCRC has led to the establishment and sustainment of fragile X clinics in the U.S., fostered cooperation among fragile X clinicians, and provided clinics with a platform to share recommendations and best practices to maximize quality of life for their patients and the overall fragile X community. The results from the survey and checklist also provide suggestions to strengthen the FXCRC and enhance future collaborations among FXCRC members. (c) 2016 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
12. Loesch DZ, Annesley SJ, Trost N, Bui MQ, Lay ST, Storey E, De Piazza SW, Sanislav O, Francione LM, Hammersley EM, Tassone F, Francis D, Fisher PR. {{Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome}}. {Neurodegener Dis};2016 (Sep 8);17(1):22-30.
BACKGROUND: The need for accessible cellular biomarkers of neurodegeneration in carriers of the fragile X mental retardation 1 (FMR1) premutation (PM) alleles. OBJECTIVE: To assess the mitochondrial status and respiration in blood lymphoblasts from PM carriers manifesting the fragile X-associated tremor/ataxia syndrome (FXTAS) and non-FXTAS carriers, and their relationship with the brain white matter lesions. METHODS: Oxygen consumption rates (OCR) and ATP synthesis using a Seahorse XFe24 Extracellular Flux Analyser, and steady-state parameters of mitochondrial function were assessed in cultured lymphoblasts from 16 PM males (including 11 FXTAS patients) and 9 matched controls. The regional white matter hyperintensity (WMH) scores were obtained from MRI. RESULTS: Mitochondrial respiratory activity was significantly elevated in lymphoblasts from PM carriers compared with controls, with a 2- to 3-fold increase in basal and maximum OCR attributable to complex I activity, and ATP synthesis, accompanied by unaltered mitochondrial mass and membrane potential. The changes, which were more advanced in FXTAS patients, were significantly associated with the WMH scores in the supratentorial regions. CONCLUSION: The dramatic increase in mitochondrial activity in lymphoblasts from PM carriers may represent either the early stages of disease (specific alterations in short-lived blood cells) or an activation of the lymphocytes under pathological situations. These changes may provide early, convenient blood biomarkers of clinical involvements.
Lien vers le texte intégral (Open Access ou abonnement)
13. Matosin N, Siegel SJ. {{Metabotropic Glutamate Receptor 5 as a Point of Convergence for Models of Obsessive-Compulsive Disorder and Autism Spectrum Disorder}}. {Biol Psychiatry};2016 (Oct 1);80(7):504-506.
Lien vers le texte intégral (Open Access ou abonnement)
14. Nowicka A, Cygan HB, Tacikowski P, Ostaszewski P, Kus R. {{Name recognition in autism: EEG evidence of altered patterns of brain activity and connectivity}}. {Mol Autism};2016;7(1):38.
BACKGROUND: Impaired orienting to social stimuli is one of the core early symptoms of autism spectrum disorder (ASD). However, in contrast to faces, name processing has rarely been studied in individuals with ASD. Here, we investigated brain activity and functional connectivity associated with recognition of names in the high-functioning ASD group and in the control group. METHODS: EEG was recorded in 15 young males with ASD and 15 matched one-to-one control individuals. EEG data were analyzed with the event-related potential (ERP), event-related desynchronization and event-related synchronization (ERD/S), as well as coherence and direct transfer function (DTF) methods. Four categories of names were presented visually: one’s own, close-other’s, famous, and unknown. RESULTS: Differences between the ASD and control groups were found for ERP, coherence, and DTF. In individuals with ASD, P300 (a positive ERP component) to own-name and to a close-other’s name were similar whereas in control participants, P300 to own-name was enhanced when compared to all other names. Analysis of coherence and DTF revealed disruption of fronto-posterior task-related connectivity in individuals with ASD within the beta range frequencies. Moreover, DTF indicated the directionality of those impaired connections-they were going from parieto-occipital to frontal regions. DTF also showed inter-group differences in short-range connectivity: weaker connections within the frontal region and stronger connections within the occipital region in the ASD group in comparison to the control group. CONCLUSIONS: Our findings suggest a lack of the self-preference effect and impaired functioning of the attentional network during recognition of visually presented names in individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
15. Obeid R, Brooks PJ, Powers KL, Gillespie-Lynch K, Lum JA. {{Statistical Learning in Specific Language Impairment and Autism Spectrum Disorder: A Meta-Analysis}}. {Front Psychol};2016;7:1245.
Impairments in statistical learning might be a common deficit among individuals with Specific Language Impairment (SLI) and Autism Spectrum Disorder (ASD). Using meta-analysis, we examined statistical learning in SLI (14 studies, 15 comparisons) and ASD (13 studies, 20 comparisons) to evaluate this hypothesis. Effect sizes were examined as a function of diagnosis across multiple statistical learning tasks (Serial Reaction Time, Contextual Cueing, Artificial Grammar Learning, Speech Stream, Observational Learning, and Probabilistic Classification). Individuals with SLI showed deficits in statistical learning relative to age-matched controls. In contrast, statistical learning was intact in individuals with ASD relative to controls. Effect sizes did not vary as a function of task modality or participant age. Our findings inform debates about overlapping social-communicative difficulties in children with SLI and ASD by suggesting distinct underlying mechanisms. In line with the procedural deficit hypothesis (Ullman and Pierpont, 2005), impaired statistical learning may account for phonological and syntactic difficulties associated with SLI. In contrast, impaired statistical learning fails to account for the social-pragmatic difficulties associated with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Ozer PA, Kabatas EU, Bicer BK, Bodur S, Kurtul BE. {{Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists}}. {Semin Ophthalmol};2016 (Sep 6):1-6.
PURPOSE: Ophthalmic problems are reported to be common in children with autism spectrum disorder (ASD), and strabismus is of particular importance. We aimed to investigate the outcomes of strabismus management in cases with ASD and identify the impact of optical or surgical correction of the strabismus on the child using a questionnaire for parents. METHODS: A survey was designed to assess parents’ perceptions of pre-management and post-management quality of life in 41 children aged 5-17 years with ASD and strabismus using a questionnaire with 10 questions, including three subscales. RESULTS: Significant improvements were noted after management in functional limitations (P < 0.01), psychosocial interactions (P < 0.01), and ocular alignment (P < 0.01) subscales. CONCLUSION: This is the first study of the literature that investigated the impact of ocular re-alignment on behavioral patterns and social interactions of children with ASD and strabismus. Lien vers le texte intégral (Open Access ou abonnement)
17. Penagarikano O. {{Oxytocin in Animal Models of Autism Spectrum Disorder}}. {Dev Neurobiol};2016 (Sep 7)
Autism spectrum disorder is a behavioral disorder characterized by impairments in social interaction and communication together with the presence of stereotyped behaviors and restricted interests. Although highly genetic, its etiology is complex which correlates with the extensive heterogeneity found in its clinical manifestation, adding to the challenge of understanding its pathophysiology and develop targeted pharmacotherapies. The neuropeptide oxytocin is part of a highly conserved system involved in the regulation of social behavior, and both animal and human research have shown that variation in the oxytocin system accounts for interindividual differences in the expression of social behaviors in mammals. In autism, recent studies in human patients and animal models are starting to reveal that alterations in the oxytocin system are more common than previously anticipated. Genetic variation in the key players involved in the system (i.e. oxytocin receptor, oxytocin and CD38) have been found associated with autism in humans, and animal models of the disorder converge in an altered oxytocin system and/or dysfunction in oxytocin related biological processes. Further, oxytocin administration exerts a behavioral and neurobiological response and thus, the oxytocin system has become a promising potential therapeutical target for autism. Animal models represent a valuable tool to aid in the research into the potential therapeutic use of oxytocin. In this review, I aim to discuss the main findings related to oxytocin research in autism with a focus on findings in animal models. This article is protected by copyright. All rights reserved.
Lien vers le texte intégral (Open Access ou abonnement)
18. Scharoun SM, Bryden PJ. {{Anticipatory Planning in Children with Autism Spectrum Disorder: An Assessment of Independent and Joint Action Tasks}}. {Front Integr Neurosci};2016;10:29.
Autism Spectrum Disorder (ASD) is one of the most common neurodevelopmental disorders. Although not a diagnostic feature, motor impairments have been recently acknowledged as prevalent and significant, such that these children have difficulties planning, organizing and coordinating movements. This study aimed to further investigate anticipatory motor planning in children with ASD by means of assessing end- and beginning-state comfort, considering inconsistent reports of end-state comfort in independent action, and the study of beginning-state comfort being limited to one study with young adults. Five- to eleven-year-old children with ASD, and chronologically age- and sex-matched typically-developing children picked-up a glass and: (1) poured a cup of water; and (2) passed it to the researcher to pour a cup of water. End-state comfort was deemed evident if participants grasped the glass thumb-down followed by a 180 degrees rotation; therefore ending with a thumb-up posture. Beginning-state comfort was deemed evident if participants passed the glass to the researcher oriented upright. Findings revealed less end-state comfort in children with ASD, attributed to motor planning deficits. Beginning-state comfort did not differ, ascribed to the habitual nature of the task; therefore reflecting a stimulus-driven response as opposed to an action which reflects anticipatory planning. The findings support difficulties with motor planning and control for children with ASD in an independent task. However, when acting with a familiar object in joint action, behavior does not differ, likely indicative of a habitual, stimulus-driven response.
Lien vers le texte intégral (Open Access ou abonnement)
19. Sys M, A VDB, Roosens B, Lampo A, Jansen A, Wouters S, Keymolen K. {{Can clinical characteristics be criteria to perform chromosomal microarray-analysis in children and adolescents with autism spectrum disorders?}}. {Minerva Pediatr};2016 (Sep 8)
BACKGROUND: Chromosomal microarray analysis (CMA) has become increasingly important in the assessment of patients with autism spectrum disorders (ASD), but is sometimes restricted to patients with specific additional characteristics or comorbidities. We aim to evaluate whether certain clinical characteristics could be criteria to perform CMA and also to investigate the diagnostic value of CMA compared to other genetic analyses in our patient population. METHODS: The files of 311 children diagnosed with ASD were retrospectively analysed. The retrieved clinical characteristics included: intellectual disability, major congenital anomalies, epilepsy, prematurity, familial history of ASD, EEG- and MRI brain-findings. Results of the genetic analyses, including CMA, were collected and statistical analysis was performed. RESULTS: CMA was performed in 79 patients and was found to be normal in 55 (group 1) and abnormal in 23 children (group 2). We found no statistically significant difference between groups in the presence of the clinical characteristics. The diagnostic yield of CMA (8.9%) was higher than in conventional karyotyping (1.6%) and other genetic analyses (3.8%). CONCLUSION: In our study, there was no significant difference in the presence of clinical characteristics in patients diagnosed with ASD who had abnormal CMA results compared to patients with normal CMA results. Therefore, the presence of these characteristics should not be used as criteria to perform CMA. Secondly, the diagnostic yield of CMA is higher than that of other genetic analyses. Our study supports the general recommendation that CMA should be offered as a first-tier test in the assessment of patients with ASD.
20. Tanoue K, Takamasu T, Matsui K. {{Food repertoire histories of children with autism spectrum disorder in Japan}}. {Pediatr Int};2016 (Sep 7)
BACKGROUND AND OBJECTIVES: Food selectivity is commonly reported in children with autism spectrum disorder (ASD). We aimed to investigate the eating habit histories of children with ASD. METHODS: We analyzed 3-day food records completed by the parents and assessed how many unique foods each child consumed. The parents were also interviewed about their child’s diet of complementary foods and estimated number of food repertoires at the ages of 3, 6, 12 and 18 years. RESULTS: We enrolled 28 participants in this study. Food repertoires for some participants showed ongoing changes from the age 3 years onward. In 2 cases, although the number of food repertoires at age 3 years was about 50, this decreased markedly, becoming severely limited, by age 5 years. One of the reasons for repertoires diminishing wad infections, such as acute gastroenteritis and upper respiratory tract infection. On the other hand, there were 5 cases with a severely limited food repertoire at age 3 years who later showed an increase to 15 or more. Four cases had good opportunities at school to increase their food repertoires. CONCLUSIONS: Dietary histories varied and changed in response to new opportunities, education and/or the environment. In some cases the number of repertoires decreased gradually for anxiety and stress, resulting in a severely limited food repertoire. Some cases had good opportunities to increase their repertoires at school. If an effective program in the early years achieves progress, the eating habits of children with ASD might be changed. This article is protected by copyright. All rights reserved.
Lien vers le texte intégral (Open Access ou abonnement)
21. Taylor LJ, Eapen V, Maybery MT, Midford S, Paynter J, Quarmby L, Smith T, Williams K, Whitehouse AJ. {{Diagnostic evaluation for autism spectrum disorder: a survey of health professionals in Australia}}. {BMJ Open};2016;6(9):e012517.
OBJECTIVES: There is currently no agreed Australian standard for the diagnosis of autism spectrum disorder (ASD) even though there are specific diagnostic services available. We suspected inconsistency in the diagnostic practices of health professionals in Australia and aimed to assess these practices across the nation by surveying all relevant professional groups. DESIGN: In this study, we completed a survey of 173 health professionals whose clinical practice includes participating in the diagnostic process for ASD in Australia. Participants completed an online questionnaire which included questions about their diagnostic setting, diagnostic practice and diagnostic outcomes in 2014-2015. PARTICIPANTS: Participants covered a range of disciplines including paediatrics, psychiatry, psychology, speech pathology and occupational therapy. All states and territories of Australia were represented. SETTING: Participants came from a range of service settings which included hospitals, non-governmental organisations, publicly funded diagnostic services and private practice. RESULTS: There was variability in diagnostic practices for ASD in Australia. While some clinicians work within a multidisciplinary assessment team, others practice independently and rarely collaborate with other clinicians to make a diagnostic decision. Only half of the respondents reported that they include a standardised objective assessment tool such as the Autism Diagnostic Observation Schedule in ASD assessments, and one-third indicated that they do not include measures of development, cognition and language in assessments where ASD is suspected. CONCLUSIONS: Reported practice of some professionals in Australia may not be consistent with international best practice guidelines for ASD diagnosis. These findings highlight the need for a minimum national standard for ASD diagnosis throughout Australia that ensures best practice regardless of the type of setting in which the service is provided.
