1. Backer van Ommeren T, Koot HM, Scheeren AM, Begeer S. {{Sex differences in the reciprocal behaviour of children with autism}}. {Autism};2016 (Nov 29)
Differences in the social limitations of girls compared to boys on the autism spectrum are still poorly understood. Impaired social-emotional reciprocity is a core diagnostic criterion for an autism spectrum disorder. This study compares sex differences in reciprocal behaviour in children with autism spectrum disorder (32 girls, 114 boys) and in typically developing children (24 girls, 55 boys). While children with autism spectrum disorder showed clear limitations in reciprocal behaviour compared to typically developing children, sex differences were found only in the autism spectrum disorder group: girls with autism spectrum disorder had higher reciprocity scores than boys with autism spectrum disorder. However, compared to typically developing girls, girls with autism spectrum disorder showed subtle differences in reciprocal behaviour. The sex-specific response patterns in autism spectrum disorder can inform and improve the diagnostic assessment of autism in females.
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2. Carakovac M, Jovanovic J, Kalanj M, Rudic N, Aleksic-Hil O, Aleksic B, Villalobos IB, Kasuya H, Ozaki N, Lecic-Tosevski D, Pejovic-Milovancevic M. {{Serbian Language version of the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up: Cross-Cultural Adaptation and Assessment of Reliability}}. {Sci Rep};2016 (Dec 01);6:38222.
Early detection of Autism Spectrum Disorder (ASD) has proven to be of high significance, however there is a limited availability of ASD screening tools in Serbian language. In this study we aim to translate, assess reliability and, in part, test the applicability of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT R/F) in Serbian Healthcare environment. We screened 128 children in three primary healthcare centres and 20 children in a tertiary psychiatric center, using M-CHAT R/F translated into Serbian language, between December 2014 and October 2015. At the end of the screening process 80% of participants in the risk group screened positive for ASD, while in the control group 4 (3.1%) participants screened positive, with a mean total scores of 8.25 and 0.66 respectively. The Cronbach’s alpha coefficient was 0.91 and Guttman’s lambda6 was 0.93. Test – retest reliability was deemed as acceptable, and no significant correlation was found between M-CHAT-R/F scores and Epworth Sleepiness Scale for children scores. The Serbian version of the M-CHAT-R/F has shown satisfactory reliability. We can therefore assert that it is a reliable tool for identifying ASD and it can be used in clinical practice to improve early detection, assessment and treatment.
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3. Chahrour M, O’Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. {{Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy}}. {J Neurosci};2016 (Nov 09);36(45):11402-11410.
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies. We will review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior. We will conclude by discussing how we can leverage the findings on molecular and cellular alterations found in ASD to develop therapies for neurodevelopmental disorders.
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4. Cortelazzo A, de Felice C, Leoncini S, Signorini C, Guerranti R, Leoncini R, Armini A, Bini L, Ciccoli L, Hayek J. {{Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation}}. {Inflamm Res};2016 (Nov 29)
BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 gene cause a clinical variant of Rett syndrome (CDKL5-RTT). A role for the acute-phase response (APR) is emerging in typical RTT caused by methyl-CpG-binding protein 2 gene mutations (MECP2-RTT). No information is, to date, available on the inflammatory protein response in CDKL5-RTT. We evaluated, for the first time, the APR protein response in CDKL5-RTT. METHODS: Protein patterns in albumin- and IgG-depleted plasma proteome from CDKL5-RTT patients were evaluated by two-dimensional gel electrophoresis/mass spectrometry. The resulting data were related to circulating cytokines and compared to healthy controls or MECP2-RTT patients. The effects of omega-3 polyunsaturated fatty acids (omega-3 PUFAs) were evaluated. RESULTS: CDKL5-RTT mutations resulted in a subclinical attenuated inflammation, specifically characterized by an overexpression of the complement component C3 and CD5 antigen-like, both strictly related to the inflammatory response. Cytokine dysregulation featuring a bulk increase of anti-inflammatory cytokines, predominantly IL-10, could explain the unchanged erythrocyte sedimentation rate and atypical features of inflammation in CDKL5-RTT. Omega-3 PUFAs were able to counterbalance the pro-inflammatory status. CONCLUSION: For the first time, we revealed a subclinical smouldering inflammation pattern in CDKL5-RTT consisting in the coexistence of an atypical APR coupled with a dysregulated cytokine response.
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5. Cosbey J, Muldoon D. {{EAT-UP Family-Centered Feeding Intervention to Promote Food Acceptance and Decrease Challenging Behaviors: A Single-Case Experimental Design Replicated Across Three Families of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 30)
This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was followed by an ‘Intervention-Coaching’ phase and then an ‘Intervention-Independent’ phase. Using direct observation and pre- and post-intervention questionnaires, data on acceptance of less preferred foods and challenging mealtime behaviors were collected. Procedural fidelity was monitored throughout all study phases. Data were analyzed using visual analysis and measures of effect size. All children demonstrated increases in food acceptance (effect size >0.90) and dietary diversity and decreased challenging behaviors. Implications for practice and research are discussed.
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6. Dean M, Harwood R, Kasari C. {{The art of camouflage: Gender differences in the social behaviors of girls and boys with autism spectrum disorder}}. {Autism};2016 (Nov 29)
This study examined the extent to which gender-related social behaviors help girls with autism spectrum disorder to seemingly mask their symptoms. Using concurrent mixed methods, we examined the social behaviors of 96 elementary school children during recess (autism spectrum disorder = 24 girls and 24 boys, typically developing = 24 girls and 24 boys). Children with autism spectrum disorder had average intelligence (IQ 70), a confirmed diagnosis, and were educated in the general education classroom. Typically developing children were matched by sex, age, and city of residence to children with autism spectrum disorder. The results indicate that the female social landscape supports the camouflage hypothesis; girls with autism spectrum disorder used compensatory behaviors, such as staying in close proximately to peers and weaving in and out of activities, which appeared to mask their social challenges. Comparatively, the male landscape made it easier to detect the social challenges of boys with autism spectrum disorder. Typically developing boys tended to play organized games; boys with autism spectrum disorder tended to play alone. The results highlight a male bias in our perception of autism spectrum disorder. If practitioners look for social isolation on the playground when identifying children with social challenges, then our findings suggest that girls with autism spectrum disorder will continue to be left unidentified.
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7. Ewbank MP, Pell PJ, Powell TE, von dem Hagen EA, Baron-Cohen S, Calder AJ. {{Repetition Suppression and Memory for Faces is Reduced in Adults with Autism Spectrum Conditions}}. {Cereb Cortex};2016 (Nov 30)
Autism spectrum conditions (ASC) are associated with a number of atypicalities in face processing, including difficulties in face memory. However, the neural mechanisms underlying this difficulty are unclear. In neurotypical individuals, repeated presentation of the same face is associated with a reduction in activity, known as repetition suppression (RS), in the fusiform face area (FFA). However, to date, no studies have investigated RS to faces in individuals with ASC, or the relationship between RS and face memory. Here, we measured RS to faces and geometric shapes in individuals with a clinical diagnosis of an ASC and in age and IQ matched controls. Relative to controls, the ASC group showed reduced RS to faces in bilateral FFA and reduced performance on a standardized test of face memory. By contrast, RS to shapes in object-selective regions and object memory did not differ between groups. Individual variation in face-memory performance was positively correlated with RS in regions of left parietal and prefrontal cortex. These findings suggest difficulties in face memory in ASC may be a consequence of differences in the way faces are stored and/or maintained across a network of regions involved in both visual perception and short-term/working memory.
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8. Fujisawa TX, Nishitani S, Iwanaga R, Matsuzaki J, Kawasaki C, Tochigi M, Sasaki T, Kato N, Shinohara K. {{Association of Aryl Hydrocarbon Receptor-Related Gene Variants with the Severity of Autism Spectrum Disorders}}. {Front Psychiatry};2016;7:184.
Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups. In addition, to clarify the relationships between the polymorphisms and the severity of autism, we compared the two genotypes of AhR-related genes (rs2066853, rs2228099) with the severity of autistic symptoms. Although no statistically significant difference was found between autism spectrum disorder (ASD) patients and control individuals for the genotypic distribution of any of the polymorphisms studied herein, a significant difference in the total score of severity was observed in rs2228099 polymorphism, suggesting that the polymorphism modifies the severity of ASD symptoms but not ASD susceptibility. Moreover, we found that a significant difference in the social communication score of severity was observed. These results suggest that the rs2228099 polymorphism is possibly associated with the severity of social communication impairment among the diverse ASD symptoms.
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9. Gedek HM, Pantelis PC, Kennedy DP. {{The influence of presentation modality on the social comprehension of naturalistic scenes in adults with autism spectrum disorder}}. {Autism};2016 (Nov 29)
The comprehension of dynamically unfolding social situations is made possible by the seamless integration of multimodal information merged with rich intuitions about the thoughts and behaviors of others. We examined how high-functioning adults with autism spectrum disorder and neurotypical controls made a complex social judgment (i.e. rating the social awkwardness of scenes from a television sitcom) across three conditions that manipulated presentation modality-visual alone, transcribed text alone, or visual and auditory together. The autism spectrum disorder and control groups collectively assigned similar mean awkwardness ratings to individual scenes. However, individual participants with autism spectrum disorder tended to respond more idiosyncratically than controls, assigning ratings that were less correlated with the ratings of the other participants in the sample. We found no evidence that this group difference was isolated to any specific presentation modality. In a comparison condition, we found no group differences when participants instead rated the happiness of characters (a more basic social judgment) in full audiovisual format. Thus, although we observed differences in the manner with which high-functioning adults with autism spectrum disorder make social judgments compared to controls, these group differences may be dependent on the social dimension being judged, rather than the specific modality of presentation.
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10. Gevi F, Zolla L, Gabriele S, Persico AM. {{Urinary metabolomics of young Italian autistic children supports abnormal tryptophan and purine metabolism}}. {Mol Autism};2016;7:47.
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of « control » status. METHODS: ASD-specific urinary metabolomic patterns were explored at an early age in 30 ASD children and 30 matched controls (age range 2-7, M:F = 22:8) using hydrophilic interaction chromatography (HILIC)-UHPLC and mass spectrometry, a highly sensitive, accurate, and unbiased approach. Metabolites were then subjected to multivariate statistical analysis and grouped by metabolic pathway. RESULTS: Urinary metabolites displaying the largest differences between young ASD and control children belonged to the tryptophan and purine metabolic pathways. Also, vitamin B6, riboflavin, phenylalanine-tyrosine-tryptophan biosynthesis, pantothenate and CoA, and pyrimidine metabolism differed significantly. ASD children preferentially transform tryptophan into xanthurenic acid and quinolinic acid (two catabolites of the kynurenine pathway), at the expense of kynurenic acid and especially of melatonin. Also, the gut microbiome contributes to altered tryptophan metabolism, yielding increased levels of indolyl 3-acetic acid and indolyl lactate. CONCLUSIONS: The metabolic pathways most distinctive of young Italian autistic children largely overlap with those found in rodent models of ASD following maternal immune activation or genetic manipulations. These results are consistent with the proposal of a purine-driven cell danger response, accompanied by overproduction of epileptogenic and excitotoxic quinolinic acid, large reductions in melatonin synthesis, and gut dysbiosis. These metabolic abnormalities could underlie several comorbidities frequently associated to ASD, such as seizures, sleep disorders, and gastrointestinal symptoms, and could contribute to autism severity. Their diagnostic sensitivity, disease-specificity, and interethnic variability will merit further investigation.
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11. Kalandadze T, Norbury C, Naerland T, Naess KB. {{Figurative language comprehension in individuals with autism spectrum disorder: A meta-analytic review}}. {Autism};2016 (Nov 29)
We present a meta-analysis of studies that compare figurative language comprehension in individuals with autism spectrum disorder and in typically developing controls who were matched based on chronological age or/and language ability. A total of 41 studies and 45 independent effect sizes were included based on predetermined inclusion criteria. Group matching strategy, age, types of figurative language, and cross-linguistic differences were examined as predictors that might explain heterogeneity in effect sizes. Overall, individuals with autism spectrum disorder showed poorer comprehension of figurative language than their typically developing peers (Hedges’ g = -0.57). A meta-regression analysis showed that group matching strategy and types of figurative language were significantly related to differences in effect sizes, whereas chronological age and cross-linguistic differences were not. Differences between the autism spectrum disorder and typically developing groups were small and nonsignificant when the groups were matched based on the language ability. Metaphors were more difficult to comprehend for individuals with autism spectrum disorder compared with typically developing controls than were irony and sarcasm. Our findings highlight the critical role of core language skills in figurative language comprehension. Interventions and educational programmes designed to improve social communication skills in individuals with autism spectrum disorder may beneficially target core language skills in addition to social skills.
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12. Kikusui T, Hiroi N. {{A Self-Generated Environmental Factor as a Potential Contributor to Atypical Early Social Communication in Autism}}. {Neuropsychopharmacology};2017 (Jan);42(1):378.
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13. Lai MC, Lombardo MV, Ruigrok AN, Chakrabarti B, Auyeung B, Szatmari P, Happe F, Baron-Cohen S. {{Quantifying and exploring camouflaging in men and women with autism}}. {Autism};2016 (Nov 29)
Autobiographical descriptions and clinician observations suggest that some individuals with autism, particularly females, ‘camouflage’ their social communication difficulties, which may require considerable cognitive effort and lead to increased stress, anxiety and depression. Using data from 60 age- and IQ-matched men and women with autism (without intellectual disability), we operationalized camouflaging in adults with autism for the first time as the quantitative discrepancy between the person’s ‘external’ behavioural presentation in social-interpersonal contexts (measured by the Autism Diagnostic Observation Schedule) and the person’s ‘internal’ status (dispositional traits measured by the Autism Spectrum Quotient and social cognitive capability measured by the ‘Reading the Mind in the Eyes’ Test). We found that the operationalized camouflaging measure was not significantly correlated with age or IQ. On average, women with autism had higher camouflaging scores than men with autism (Cohen’s d = 0.98), with substantial variability in both groups. Greater camouflaging was associated with more depressive symptoms in men and better signal-detection sensitivity in women with autism. The neuroanatomical association with camouflaging score was largely sex/gender-dependent and significant only in women: from reverse inference, the most correlated cognitive terms were about emotion and memory. The underlying constructs, measurement, mechanisms, consequences and heterogeneity of camouflaging in autism warrant further investigation.
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14. LeBel JL. {{Behavioral Challenges in Children With Autism and Other Special Needs: The Developmental Approachby Diane Cullinane, M.D.; New York, W. W. Norton and Company, 2016, 368 pages}}. {Psychiatr Serv};2016 (Dec 01);67(12):e19-e20.
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15. Lin YC, Frei JA, Kilander MB, Shen W, Blatt GJ. {{A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons}}. {Front Cell Neurosci};2016;10:263.
Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect individuals’ ability to communicate and interact with others. People with ASD often exhibit marked qualitative difficulties in social interaction, communication, and behavior. Alterations in neurite arborization and dendritic spine morphology, including size, shape, and number, are hallmarks of almost all neurological conditions, including ASD. As experimental evidence emerges in recent years, it becomes clear that although there is broad heterogeneity of identified autism risk genes, many of them converge into similar cellular pathways, including those regulating neurite outgrowth, synapse formation and spine stability, and synaptic plasticity. These mechanisms together regulate the structural stability of neurons and are vulnerable targets in ASD. In this review, we discuss the current understanding of those autism risk genes that affect the structural connectivity of neurons. We sub-categorize them into (1) cytoskeletal regulators, e.g., motors and small RhoGTPase regulators; (2) adhesion molecules, e.g., cadherins, NCAM, and neurexin superfamily; (3) cell surface receptors, e.g., glutamatergic receptors and receptor tyrosine kinases; (4) signaling molecules, e.g., protein kinases and phosphatases; and (5) synaptic proteins, e.g., vesicle and scaffolding proteins. Although the roles of some of these genes in maintaining neuronal structural stability are well studied, how mutations contribute to the autism phenotype is still largely unknown. Investigating whether and how the neuronal structure and function are affected when these genes are mutated will provide insights toward developing effective interventions aimed at improving the lives of people with autism and their families.
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16. Lisik MZ, Gutmajster E, Sieron AL. {{Plasma Levels of Leptin and Adiponectin in Fragile X Syndrome}}. {Neuroimmunomodulation};2016 (Dec 01)
Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene, resulting in the transcriptional silencing of the gene. Leptin may be considered a cytokine-like hormone with pleiotropic actions since it may be involved in the regulation of neuroendocrine functions and the immune system response, in addition to playing a role in development. Leptin and adiponectin may act in parallel as opposing metabolic counterparts. The involvement of leptin and adiponectin in the pathophysiology of FXS was hypothesized. MATERIAL AND METHODS: Twenty-three male patients affected by FXS (full mutation in the FMR1 gene) and 24 controls were included in the study. Plasma leptin and adiponectin levels were measured by the ELISA method using commercially available kits. RESULTS: Adiponectin levels in FXS patients were significantly lower than those found in controls (p < 0.04). Leptin levels in FXS patients were significantly higher than those found in controls (p = 0.03). CONCLUSION: Adipokines may be involved in the psychiatric features observed in FXS patients. Further investigations are necessary to evaluate the role of adiponectin and leptin in FXS. Lien vers le texte intégral (Open Access ou abonnement)
17. Lv Y, Liu C, Shi M, Cui L. {{Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report}}. {BMC Neurol};2016 (Jun 13);16:91.
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn’t been recognized by clinical doctors at the early stage. So we need to find some special characters. CASE PRESENTATION: We reported a Chinese case of Rett syndrome, exhibiting continuous centrotemporal spikes in EEG with paroxysmal suppression by hand stereotypies (hand clapping). The child, female, 4 years old, presented with a significant regression in her spoken language skills, hand stereotypies (hand clapping and hand wringing), a wider based gait with difficulties in balance, repeated abnormal behaviors (bruxism and head banging). With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis. Her EEG showed slow acticity in background and revealed a specific feature that continuous centrotemporal spikes can be suppressed by the repeated hand clapping. And when the hand stopped, the spikes reoccured again. CONCLUSIONS: This unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome.
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18. Mamashli F, Khan S, Bharadwaj H, Michmizos K, Ganesan S, Garel KA, Ali Hashmi J, Herbert MR, Hamalainen M, Kenet T. {{Auditory processing in noise is associated with complex patterns of disrupted functional connectivity in autism spectrum disorder}}. {Autism Res};2016 (Dec 02)
Autism spectrum disorder (ASD) is associated with difficulty in processing speech in a noisy background, but the neural mechanisms that underlie this deficit have not been mapped. To address this question, we used magnetoencephalography to compare the cortical responses between ASD and typically developing (TD) individuals to a passive mismatch paradigm. We repeated the paradigm twice, once in a quiet background, and once in the presence of background noise. We focused on both the evoked mismatch field (MMF) response in temporal and frontal cortical locations, and functional connectivity with spectral specificity between those locations. In the quiet condition, we found common neural sources of the MMF response in both groups, in the right temporal gyrus and inferior frontal gyrus (IFG). In the noise condition, the MMF response in the right IFG was preserved in the TD group, but reduced relative to the quiet condition in ASD group. The MMF response in the right IFG also correlated with severity of ASD. Moreover, in noise, we found significantly reduced normalized coherence (deviant normalized by standard) in ASD relative to TD, in the beta band (14-25 Hz), between left temporal and left inferior frontal sub-regions. However, unnormalized coherence (coherence during deviant or standard) was significantly increased in ASD relative to TD, in multiple frequency bands. Our findings suggest increased recruitment of neural resources in ASD irrespective of the task difficulty, alongside a reduction in top-down modulations, usually mediated by the beta band, needed to mitigate the impact of noise on auditory processing. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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19. Mery DP. {{Does data cleaning disproportionately affect autistics?}}. {Autism};2016 (Nov 29)
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20. Micai M, Joseph H, Vulchanova M, Saldana D. {{Strategies of readers with autism when responding to inferential questions: An eye-movement study}}. {Autism Res};2016 (Dec 02)
Previous research suggests that individuals with autism spectrum disorder (ASD) have difficulties with inference generation in reading tasks. However, most previous studies have examined how well children understand a text after reading or have measured on-line reading behavior without response to questions. The aim of this study was to investigate the online strategies of children and adolescents with autism during reading and at the same time responding to a question by monitoring their eye movements. The reading behavior of participants with ASD was compared with that of age-, language-, nonverbal intelligence-, reading-, and receptive language skills-matched participants without ASD (control group). The results showed that the ASD group were as accurate as the control group in generating inferences when answering questions about the short texts, and no differences were found between the two groups in the global paragraph reading and responding times. However, the ASD group displayed longer gaze latencies on a target word necessary to produce an inference. They also showed more regressions into the word that supported the inference compared to the control group after reading the question, irrespective of whether an inference was required or not. In conclusion, the ASD group achieved an equivalent level of inferential comprehension, but showed subtle differences in reading comprehension strategies compared to the control group. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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21. Mihaila I, Hartley SL. {{Parental sleep quality and behavior problems of children with autism}}. {Autism};2016 (Nov 29)
This study explored the impact of parental sleep quality on the experience of behavior problems by children with autism spectrum disorder. A 14-day daily diary was used in a sample of 176 mother-father couples. Dyadic multilevel models were conducted to examine the between-person and within-person effects of previous-night sleep quality on parents’ rating of level of behavior problems by the child with autism spectrum disorder and level of positive and negative affect. Results indicated that persistently poor sleep quality was associated with between-person differences in initial rating of level of behavior problems by the child with autism spectrum disorder for mothers. At a within-person level, previous-night sleep quality moderated the association between rating of level of behavior problems by the child with autism spectrum disorder and level of positive and negative affect in fathers. Child-related stressors exerted less influence on fathers’ affect following a day with poor sleep quality. Interventions aimed at enhancing sleep quality in parents of children with autism spectrum disorder may have important effects on parental psychological well-being.
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22. Muzar Z, Lozano R, Kolevzon A, Hagerman RJ. {{The neurobiology of the Prader-Willi phenotype of fragile X syndrome}}. {Intractable Rare Dis Res};2016 (Nov);5(4):255-261.
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region. Affected individuals suffer from hyperphagia, lack of satiation, intellectual disability, and behavioral problems. Children with fragile X syndrome Prader-Willi phenotye and those with Prader Willi syndrome have clinical and molecular similarities reviewed here which will impact new treatment options for both disorders.
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23. Pisula E, Pudlo M, Slowinska M, Kawa R, Strzaska M, Banasiak A, Wolanczyk T. {{Behavioral and emotional problems in high-functioning girls and boys with autism spectrum disorders: Parents’ reports and adolescents’ self-reports}}. {Autism};2016 (Nov 29)
The purpose of this study was to investigate sex differences in behavioral and emotional problems in high-functioning girls and boys with autism spectrum disorder. The results obtained by adolescents with autism spectrum disorder were compared with those of typically developing girls and boys. Correlations between parents’ and adolescents’ ratings were also analyzed. Participants were 35 girls and 35 boys with autism spectrum disorder, aged 11-18 years, matched for chronological age and full-scale IQ. The control group consisted of 24 typically developing girls and 24 boys of the same age and IQ. The parents of adolescent participants were also included in the study. The measures used were the Child Behavior Checklist (4-18) completed by parents and Youth Self-Report (11-18) completed by adolescents. The adolescents with autism spectrum disorder presented higher levels of behavioral and emotional problems than the control group, according to both the parents’ reports and the adolescents’ self-reports. No sex differences were found in that respect. More differences between the assessments of adolescents and their parents occurred in the control group, and the effect size was larger.
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24. Santosh PJ, Bell L, Lievesley K, Singh J, Fiori F. {{Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report}}. {BMC Pediatr};2016 (Nov 29);16(1):194.
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT. The prototypical beta blocker propranolol has been used to manage sympathetic hyperactivity in patients with RTT. CASE PRESENTATION: A 13 year old girl with RTT was referred to the Centre for Interventional Paediatric Psychopharmacology and Rare Diseases (CIPPRD), South London and Maudsley NHS Foundation Trust. Her clinical picture included disordered breathing with concomitant hyperventilation and apnoea, epilepsy, scoliosis, no QT prolongation (QT/QTc [372/467 ms on automated electrocardiogram [ECG], but manually calculated to be 440 ms]), no cardiac abnormalities (PR interval: 104 ms, QRS duration: 78 ms), and generalised anxiety disorder (ICD-10-CM Diagnosis Code F41.1). She was also constipated and was fed via percutaneous endoscopic gastrostomy (PEG). To manage the dysautonomia, propranolol was given (5 mg and 10 mg) and in parallel her physiological parameters, including heart rate, skin temperature and skin transpiration, were monitored continuously for 24 h as she went about her activities of daily living. Whilst her skin temperature increased and skin transpiration decreased, unexpectedly there was a significant paradoxical increase in the patient’s average heart rate following propranolol treatment. CONCLUSION: Here, we present a unique case of a paradoxical increase in heart rate response following propranolol treatment for managing dysautonomia in a child with RTT. Further studies are warranted to better understand the underlying dysautonomia in patients with RTT and the impact this might have on treatment strategies in rare disorders such as RTT.
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25. Shirama A, Kato N, Kashino M. {{When do individuals with autism spectrum disorder show superiority in visual search?}}. {Autism};2016 (Nov 29)
Although superior visual search skills have been repeatedly reported for individuals with autism spectrum disorder, the underlying mechanisms remain controversial. To specify the locus where individuals with autism spectrum disorder excel in visual search, we compared the performance of autism spectrum disorder adults and healthy controls in briefly presented search tasks, where the search display was replaced by a noise mask at a stimulus-mask asynchrony of 160 ms to interfere with a serial search process while bottom-up visual processing remains intact. We found that participants with autism spectrum disorder show faster overall reaction times regardless of the number of stimuli and the presence of a target with higher accuracy than controls in a luminance and shape conjunction search task as well as a hard feature search task where the target feature information was ineffective in prioritizing likely target stimuli. In addition, the analysis of target eccentricity illustrated that the autism spectrum disorder group has better target discriminability regardless of target eccentricity, suggesting that the autism spectrum disorder advantage does not derive from a reduced crowding effect, which is known to be enhanced with increasing retinal eccentricity. The findings suggest that individuals with autism spectrum disorder excel in non-search processes, especially in the simultaneous discrimination of multiple visual stimuli.
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26. Tarlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. {{Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder}}. {Cell};2016 (Dec 01);167(6):1481-1494.e1418.
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities. Furthermore, we identified several patients with autistic traits and motor delay carrying deleterious homozygous mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate a neurological syndrome defined by SLC7A5 mutations and support an essential role for the BCAA in human brain function.
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27. Tsai PC, Harrington RA, Lung FW, Lee LC. {{Disparity in report of autism-related behaviors by social demographic characteristics: Findings from a community-based study in Taiwan}}. {Autism};2016 (Nov 29)
The Social Communication Questionnaire is one of the most commonly used screening tools for autism spectrum disorder. The Social Communication Questionnaire is a caregiver-reported questionnaire with 40 items based on questions from the Autism Diagnostic Interview-Revised. This study collected Social Communication Questionnaire data from a community-based, multi-stage case identification design epidemiologic study in one socioeconomically disadvantaged county in Taiwan. The Social Communication Questionnaire was distributed to 3034 school children, aged 6-8 years. Item prevalence results indicate males were reported to have more autism-related behaviors than females (higher prevalence on most items), in the whole study sample as well as in children meeting Social Communication Questionnaire clinical cut-offs (15). Children whose biological fathers completed the Social Communication Questionnaire were reported to have more behavioral issues than children whose biological mothers were the respondent. Lower respondent education levels were associated with reports of clinically concerning autism-related behaviors. However, males were not at higher risk of meeting Social Communication Questionnaire clinical cut-offs than females in this study population. Findings from this study help to better understand reporting patterns on children’s autism-related behaviors potentially due to social demographic characteristics and child sex, which may lead to improved identification of these behaviors.
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28. Vershkov D, Benvenisty N. {{Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome}}. {Regen Med};2016 (Nov 30)
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment.
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29. Vogan V, Lake JK, Tint A, Weiss JA, Lunsky Y. {{Tracking health care service use and the experiences of adults with autism spectrum disorder without intellectual disability: A longitudinal study of service rates, barriers and satisfaction}}. {Disabil Health J};2016 (Nov 22)
BACKGROUND: Adults with Autism Spectrum Disorder (ASD) encounter many difficulties finding and accessing health care services. Despite this, few studies have considered the health service use patterns of adults with ASD without intellectual disability (ID). OBJECTIVES: The current study examines a diverse range of medical and mental health services and supports, as well as adults’ personal experiences accessing and using these services, barriers to service use, and reported unmet service needs. METHODS: Forty adults (ages 18-61 years) with ASD without ID completed surveys every two months about their health service use for a total of 12-18 months. Bivariate analyses were conducted to understand the individual demographic and clinical factors associated with rate of service use, satisfaction with services, and barriers to health care. RESULTS: Results indicated that, beyond a family doctor, the most commonly used services were dentistry, individual counseling, and psychiatry. Individuals who had medical problems experienced significantly more barriers to service use than those who did not, and those who had medical and mental health problems were less satisfied with services. CONCLUSIONS: Findings highlight the challenges adults with ASD without ID face accessing appropriate, quality services to meet their needs, particularly those with complex medical and mental health issues. Service providers must strive to provide adequate health care to this population who may become distressed if their needs are left unmet.
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30. Wachob D, Pesci LJ. {{Brief Report: Knowledge and Confidence of Emergency Medical Service Personnel Involving Treatment of an Individual with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Dec 01)
In order to best respond to an emergency situation, professionals need to have an understanding about Autism Spectrum Disorder (ASD) and techniques that will ensure proper care. The purpose of this study was to determine the knowledge and confidence of EMS personnel on interacting and treating an individual with ASD. Emergency Medical Technicians (EMT), and Paramedics were surveyed on their knowledge of ASD; familiarity or experience with ASD, and level of comfort responding to emergencies involving an individual with ASD. The results found that autism-specific training and resources were associated with higher comfort levels, but not knowledge. It was also determined that newer and younger professionals had higher knowledge and comfort when compared to the more experienced and older professionals.
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31. Wozniak RH, Leezenbaum NB, Northrup JB, West KL, Iverson JM. {{The development of autism spectrum disorders: variability and causal complexity}}. {Wiley Interdiscip Rev Cogn Sci};2016 (Dec 01)
The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene x environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors. As the individual grows, changes in neural atypicality, consequent variation in behavior, and environmental response to that behavior may become linked in a positive feedback loop that amplifies deviations from the typical developmental pattern. For further resources related to this article, please visit the WIREs website.
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32. Zachor DA, Vardi S, Baron-Eitan S, Brodai-Meir I, Ginossar N, Ben-Itzchak E. {{The effectiveness of an outdoor adventure programme for young children with autism spectrum disorder: a controlled study}}. {Dev Med Child Neurol};2016 (Dec 02)
AIM: Outdoor adventure programmes aim to improve interpersonal relationships using adventurous activities. The current study examined the effectiveness of an outdoor adventure programme in children with autism spectrum disorders (ASD). METHOD: The study included 51 participants (40 males, 11 females; age 3y 4mo-7y 4mo) enrolled in ASD special education kindergartens. Only the intervention group (n=30) participated in the outdoor adventure programme for 13 weeks, completing challenging physical activities that required cooperation and communication with peers and instructors. The control group (n=21) was not significantly different from the research group in age, sex, cognitive, and adaptive behaviour measures. RESULTS: Outcomes after the intervention revealed significant improvement in social-communication and different directions in the two groups in the social cognition, social motivation, and autistic mannerisms subdomains of the Social Responsiveness Scale. While the group that received an outdoor adventure programme showed a tendency toward a reduction in severity, the control group showed the opposite (p<0.010). INTERPRETATION: The outdoor adventure programme required problem-solving skills and forced the child to communicate in exciting situations. This study suggests that an outdoor adventure programme may be an effective intervention in addition to traditional treatments in young children with ASD. Future studies should examine the outcome of outdoor adventure programmes delivered for longer periods of time and maintenance of the achievements over time. Lien vers le texte intégral (Open Access ou abonnement)
33. Zhang W, Mason AE, Boyd B, Sikich L, Baranek G. {{A Rural-Urban Comparison in Emergency Department Visits for U.S. Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Dec 01)
We examined rural-urban differences in emergency department visits, and child and clinical characteristics associated with visits for U.S. children aged 3-17 years with autism spectrum disorder (ASD). Rural children with ASD were twice more likely to have emergency department visits in urban hospitals than rural children without ASD. The children with ASD in rural areas were economically disadvantaged and concentrated in the South and Midwest regions. Rural children diagnosed with ASD and multiple comorbidities during emergency department visits were 1.6 times as that of urban children. Rural children with ASD, particularly those with multiple comorbidities, require more emergency department services when compared with urban children with ASD.
