1. Blomqvist M, Bejerot S, Dahllof G. {{A cross-sectional study on oral health and dental care in intellectually able adults with autism spectrum disorder}}. {BMC Oral Health};2015;15:81.
BACKGROUND: Autism spectrum disorder (ASD) is characterized by impairments in social interaction and communication, restricted patterns of behaviour, and unusual sensory sensitivities. The hypotheses to be tested were that adult patients with ASD have a higher caries prevalence, have more risk factors for caries development, and utilize dental health care to a lesser extent than people recruited from the normal population. METHODS: Forty-seven adults with ASD, (25 men, 22 women, mean age 33 years) and of normal intelligence and 69 age- and sex-matched typical controls completed a dental examination and questionnaires on oral health, dental hygiene, dietary habits and previous contacts with dental care. RESULTS: Except for increased number of buccal gingival recessions, the oral health was comparable in adults with ASD and the control group. The group with ASD had less snacking, but also less frequent brushing of teeth in the mornings. The stimulated saliva secretion was lower in the ASD group, regardless of medication. Frequencies of dental care contacts were equal in both groups. The most common reason for missing a dental appointment was forgetfulness in the ASD group. CONCLUSIONS: Adults with ASD exhibited more gingival recessions and considerably lower saliva flow compared to healthy controls. Despite equal caries prevalence, the risk for reduced oral health due to decreased salivary flow should be taken into consideration when planning dental care for patients with ASD. Written reminders of dental appointments and written and verbal report on oral health status and oral hygiene instructions are recommended.
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2. Bottema-Beutel K, White R. {{By the Book: An Analysis of Adolescents with Autism Spectrum Condition Co-constructing Fictional Narratives with Peers}}. {J Autism Dev Disord};2015 (Jul 15)
In this discourse analytic study, we examine interactions between adolescents with autism spectrum condition (ASC) and their typically developing (TD) peers during the construction of fictional narratives within a group intervention context. We found participants with ASC contributed fewer narrative-related turns at talk than TD participants. The groups organized the activity as a means to subvert moral and social norms, and youth with ASC participated in negotiating new norms with varying degrees of success. Further, participants with ASC often prioritized making explicit links between narrative events over creative interpretations of narrative, which illustrated differing orientations to the narrative project. Our findings add an interactional dimension to existing research focusing on the psychological aspects of narrative production in individuals with ASC.
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3. Boudreau BA, Vladescu JC, Kodak TM, Argott PJ, Kisamore AN. {{A comparison of differential reinforcement procedures with children with autism}}. {J Appl Behav Anal};2015 (Jul 14)
The current evaluation compared the effects of 2 differential reinforcement arrangements and a nondifferential reinforcement arrangement on the acquisition of tacts for 3 children with autism. Participants learned in all reinforcement-based conditions, and we discuss areas for future research in light of these findings and potential limitations.
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4. Chen X, Wang J, Xie H, Zhou W, Wu Y, Qin J, Guo J, Gu Q, Zhang X, Ji T, Zhang Y, Xiong Z, Wang L, Wu X, Latham GJ, Jiang Y. {{Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder}}. {BMC Pediatr};2015;15:77.
BACKGROUND: Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown. METHODS: Patients with unknown moderate to severe IDD were recruited from two children’s hospitals. Informed consent was obtained from the children’s parents. The size of the CGG repeat was identified using a commercial TP-PCR assay. The influence of AGG interruptions on the CGG expansion during maternal transmission was analyzed in 24 mother-son pairs (10 pairs with 1 AGG and 14 pairs with 2 AGGs). RESULTS: 553 unrelated patients between six months and eighteen years of age were recruited. Specimens from 540 patients (male:female = 5.2:1) produced high-quality TP-PCR data, resulting in the determination of the FMR1 CGG repeat number for each. The most common repeat numbers were 29 and 30, and the most frequent interruption pattern was 2 or 3 AGGs. Five full mutations were identified (1 familial and 4 sporadic IDD patients), and size mosaicism was apparent in 4 of these FXS patients (4/5 = 80 %). The overall yield of FXS in the IDD cohort was 0.93 % (5/540). Neither the mean size of CGG expansion (0.20 vs. 0.79, p > 0.05) nor the frequency of CGG expansion (2/10 vs. 9/14, p > 0.05) was significantly different between the 1 and 2 AGG groups following maternal transmission. CONCLUSIONS: The FMR1 TP-PCR assay generates reliable and sensitive results across a large number of patient specimens, and is suitable for clinical genetic diagnosis. Using this assay, the prevalence of FXS was 0.93 % in Chinese children with unknown IDD.
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5. Dababnah S, Parish SL. {{A Comprehensive Literature Review of Randomized Controlled Trials for Parents of Young Children with Autism Spectrum Disorder}}. {J Evid Inf Soc Work};2015 (Jul 15):1-16.
Parents raising young children with autism spectrum disorder are particularly vulnerable to stress and poor coping mechanisms. The current article describes a comprehensive review of randomized controlled trials which included parents of preschool-age children with autism spectrum disorder. Seven interventions met the review criteria. The studies were strengthened by the use of fidelity measures and developmentally appropriate interventions. However, while all of the studies collected parent measures, none reported significant post-test improvements in parent mental health or other outcomes. Furthermore, numerous issues, such as unclear randomization strategies, small sample sizes, and poor external validity, further limited the ability to draw significant conclusions regarding the promise of the interventions. More research is needed to develop and rigorously test family-centered interventions aimed at improving both child and parent outcomes.
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6. Hill TL, Gray SA, Kamps JL, Enrique Varela R. {{Age and Adaptive Functioning in Children and Adolescents with ASD: The Effects of Intellectual Functioning and ASD Symptom Severity}}. {J Autism Dev Disord};2015 (Jul 15)
The present study examined the moderating effects of intellectual functioning and ASD symptom severity on the relation between age and adaptive functioning in 220 youth with autism spectrum disorder (ASD). Regression analysis indicated that intellectual functioning and ASD symptom severity moderated the relation between age and adaptive functioning. For younger children with lower intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Similarly, for older children with higher intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Analyses by subscales suggest that this pattern is driven by the Conceptual subscale. Clinical and research implications are discussed.
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7. Lanovaz MJ, Dufour MM, Shah S. {{Newspaper Coverage of Autism Treatment in Canada: 10-Year Trends (2004-2013)}}. {Can J Psychiatry};2015 (Jul);60(7):329-333.
OBJECTIVE: To compare trends in coverage of empirically supported and alternative autism treatments in Canadian newspapers during a 10-year period and to examine whether the portrayal of empirically supported and alternative treatments differed. METHOD: We searched a sample of 10 daily local and national Canadian newspapers using the word autism combined with intervention or treatment in the Proquest Canadian Newsstand and Eureka.cc databases, which yielded a total of 857 articles published between 2004 and 2013. In our subsequent analyses, we only included articles whose main topic was autism and that referred to at least one treatment. We then categorized the 137 remaining articles by treatment and rated whether each treatment category was portrayed in a favourable, unfavourable, or neutral manner. RESULTS: In total, 46% of the articles discussed at least 1 empirically supported treatment, 53% at least 1 alternative treatment, and 12% at least 1 uncategorized treatment. Newspaper articles provided favourable, unfavourable, and neutral portrayals of empirically supported treatments in 75%, 10%, and 16% of cases, respectively. In contrast, alternative treatments were portrayed favourably in 52%, unfavourably in 32%, and neutrally in 16% of cases. Our analyses indicated that empirically supported treatments were portrayed more favourably than alternative treatments (chi(2) = 10.42, df = 2, P = 0.005). CONCLUSIONS: Despite some encouraging trends, our study has shown that researchers and clinicians must continue to clarify misconceptions about autism treatment. Families of people with autism spectrum disorders should be directed toward more reliable and accurate sources of information.
8. McEwen FS, Stewart CS, Colvert E, Woodhouse E, Curran S, Gillan N, Hallett V, Lietz S, Garnett T, Ronald A, Murphy D, Happe F, Bolton P. {{Diagnosing autism spectrum disorder in community settings using the Development and Well-Being Assessment: validation in a UK population-based twin sample}}. {J Child Psychol Psychiatry};2015 (Jul 15)
BACKGROUND: Increasing numbers of people are being referred for the assessment of autism spectrum disorder (ASD). The NICE (UK) and the American Academy of Pediatrics recommend gathering a developmental history using a tool that operationalises ICD/DSM criteria. However, the best-established diagnostic interview instruments are time consuming, costly and rarely used outside national specialist centres. What is needed is a brief, cost-effective measure validated in community settings. We tested the Development and Well-Being Assessment (DAWBA) for diagnosing ASD in a sample of children/adolescents representative of those presenting in community mental health settings. METHODS: A general population sample of twins (TEDS) was screened and 276 adolescents were selected as at low (CAST score < 12; n = 164) or high risk for ASD (CAST score >/= 15 and/or parent reported that ASD suspected/previously diagnosed; n = 112). Parents completed the ASD module of the DAWBA interview by telephone or online. Families were visited at home: the ADI-R and autism diagnostic observation schedule (ADOS) were completed to allow a best-estimate research diagnosis of ASD to be made. RESULTS: Development and Well-Being Assessment ASD symptom scores correlated highly with ADI-R algorithm scores (rho = .82, p < .001). Good sensitivity (0.88) and specificity (0.85) were achieved using DAWBA computerised algorithms. Clinician review of responses to DAWBA questions minimally changed sensitivity (0.86) and specificity (0.87). Positive (0.82-0.95) and negative (0.90) predictive values were high. Eighty-six per cent of children were correctly classified. Performance was improved by using it in conjunction with the ADOS. CONCLUSIONS: The DAWBA is a brief structured interview that showed good sensitivity and specificity in this general population sample. It requires little training, is easy to administer (online or by interview) and diagnosis is aided by an algorithm. It holds promise as a tool for assisting with assessment in community settings and may help services implement the recommendations made by NICE and the American Academy of Pediatrics regarding diagnosis of young people on the autism spectrum.
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9. Pidcock FS, Salorio C, Bibat G, Swain J, Scheller J, Shore W, Naidu S. {{Functional outcomes in Rett syndrome}}. {Brain Dev};2015 (Jul 11)
AIM: To relate functional outcomes to mutation type and age at evaluation in patients with Rett syndrome (RTT). METHOD: We identified 96 RTT patients with mutations in the MECP2 (methyl-CpG-binding protein 2) gene. Chart analysis, clinical evaluation, and functional measures were completed. RESULTS: Among 11 mutation groups, a statistically significant group effect of mutation type was observed for self-care, upper extremity function, and mobility, on standardized measures administered by occupational and physical therapists. Patients with R133C and uncommon mutations tended to perform best on upper extremity and self-care items, whereas patients with R133C, R306C and R294X had the highest scores on the mobility items. The worst performers on upper extremity and self-care items were patients with large deletions, R255X, R168X, and T158M mutations. The lowest scores for mobility were found in patients with T158M, R255X, R168X, and R270X mutations. On categorical variables as reported by parents at the time of initial evaluation, patients with R133C and R294X were most likely to have hand use, those with R133C, R294X, R306C and small deletions were most likely to be ambulatory, and those with R133C were most likely to be verbal. INTERPRETATION: Functional performance in RTT patients may relate to the type of mutation. Knowledge of these relationships is useful for developing appropriate rehabilitation strategies and prognosis.
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10. Saez MA, Fernandez-Rodriguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpi JL, Orozco M, Lopez-Doriga A, Mila M, Perez-Jurado LA, Pineda M, Armstrong J, Lazaro C, Esteller M. {{Mutations in JMJD1C are involved in Rett syndrome and intellectual disability}}. {Genet Med};2015 (Jul 16)
PURPOSE: Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known to occur in several of these syndromes. Herein, we aimed to identify whether mutations in the candidate histone demethylase JMJD1C (jumonji domain containing 1C) are implicated in these disorders. METHODS: We performed the mutational and functional analysis of JMJD1C in 215 cases of autism spectrum disorders, intellectual disability, and Rett syndrome without a known genetic defect. RESULTS: We found seven JMJD1C variants that were not present in any control sample (~ 6,000) and caused an amino acid change involving a different functional group. From these, two de novo JMJD1C germline mutations were identified in a case of Rett syndrome and in a patient with intellectual disability. The functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. We confirmed that JMJD1C protein is widely expressed in brain regions and that its depletion compromises dendritic activity. CONCLUSIONS: Our findings indicate that mutations in JMJD1C contribute to the development of Rett syndrome and intellectual disability.Genet Med advance online publication 16 July 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.100.
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11. Talbott MR, Nelson CA, Tager-Flusberg H. {{Maternal Vocal Feedback to 9-Month-Old Infant Siblings of Children with ASD}}. {Autism Res};2015 (Jul 14)
Infant siblings of children with autism spectrum disorder display differences in early language and social communication skills beginning as early as the first year of life. While environmental influences on early language development are well documented in other infant populations, they have received relatively little attention inside of the infant sibling context. In this study, we analyzed home video diaries collected prospectively as part of a longitudinal study of infant siblings. Infant vowel and consonant-vowel vocalizations and maternal language-promoting and non-promoting verbal responses were scored for 30 infant siblings and 30 low risk control infants at 9 months of age. Analyses evaluated whether infant siblings or their mothers exhibited differences from low risk dyads in vocalization frequency or distribution, and whether mothers’ responses were associated with other features of the high risk context. Analyses were conducted with respect to both initial risk group and preliminary outcome classification. Overall, we found no differences in infants’ consonant-vowel vocalizations, the frequency of overall maternal utterances, or the distribution of mothers’ response types. Both groups of infants produced more vowel than consonant-vowel vocalizations, and both groups of mothers responded to consonant-vowel vocalizations with more language-promoting than non-promoting responses. These results indicate that as a group, mothers of high risk infants provide equally high quality linguistic input to their infants in the first year of life and suggest that impoverished maternal linguistic input does not contribute to high risk infants’ initial language difficulties. Implications for intervention strategies are also discussed. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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12. Tang LT, Craig TJ, Henley JM. {{SUMOylation of synapsin Ia maintains synaptic vesicle availability and is reduced in an autism mutation}}. {Nat Commun};2015;6:7728.
Synapsins are key components of the presynaptic neurotransmitter release machinery. Their main role is to cluster synaptic vesicles (SVs) to each other and anchor them to the actin cytoskeleton to establish the reserve vesicle pool, and then release them in response to appropriate membrane depolarization. Here we demonstrate that SUMOylation of synapsin Ia (SynIa) at K687 is necessary for SynIa function. Replacement of endogenous SynIa with a non-SUMOylatable mutant decreases the size of the releasable vesicle pool and impairs stimulated SV exocytosis. SUMOylation enhances SynIa association with SVs to promote the efficient reclustering of SynIa following neuronal stimulation and maintain its presynaptic localization. The A548T mutation in SynIa is strongly associated with autism and epilepsy and we show that it leads to defective SynIa SUMOylation. These results identify SUMOylation as a fundamental regulator of SynIa function and reveal a novel link between reduced SUMOylation of SynIa and neurological disorders.
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13. Ujiie Y, Asai T, Wakabayashi A. {{The relationship between level of autistic traits and local bias in the context of the McGurk effect}}. {Front Psychol};2015;6:891.
The McGurk effect is a well-known illustration that demonstrates the influence of visual information on hearing in the context of speech perception. Some studies have reported that individuals with autism spectrum disorder (ASD) display abnormal processing of audio-visual speech integration, while other studies showed contradictory results. Based on the dimensional model of ASD, we administered two analog studies to examine the link between level of autistic traits, as assessed by the Autism Spectrum Quotient (AQ), and the McGurk effect among a sample of university students. In the first experiment, we found that autistic traits correlated negatively with fused (McGurk) responses. Then, we manipulated presentation types of visual stimuli to examine whether the local bias toward visual speech cues modulated individual differences in the McGurk effect. The presentation included four types of visual images, comprising no image, mouth only, mouth and eyes, and full face. The results revealed that global facial information facilitates the influence of visual speech cues on McGurk stimuli. Moreover, individual differences between groups with low and high levels of autistic traits appeared when the full-face visual speech cue with an incongruent voice condition was presented. These results suggest that individual differences in the McGurk effect might be due to a weak ability to process global facial information in individuals with high levels of autistic traits.
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14. Varella AA, de Souza DG. {{Using class-specific compound consequences to teach dictated and printed letter relations to a child with autism}}. {J Appl Behav Anal};2015 (Jul 14)
The effects of class-specific compound consequences embedded in an identity-matching task to establish arbitrary emergent relations were evaluated. A 3-year-old child with autism was taught identity relations between lowercase letters (Set 1) and uppercase letters (Set 2). A compound stimulus that consisted of an auditory component (dictated letter name) and a visual component (an uppercase letter for Set 1 or lowercase letter for Set 2) followed correct responses. All targeted arbitrary relations emerged (uppercase-lowercase, lowercase-uppercase, dictated name/uppercase, and dictated name/lowercase), suggesting that this procedure may be useful for teaching.
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15. Wang J, Wegener JE, Huang TW, Sripathy S, De Jesus-Cortes H, Xu P, Tran S, Knobbe W, Leko V, Britt J, Starwalt R, McDaniel L, Ward CS, Parra D, Newcomb B, Lao U, Nourigat C, Flowers DA, Cullen S, Jorstad NL, Yang Y, Glaskova L, Vigneau S, Kozlitina J, Yetman MJ, Jankowsky JL, Reichardt SD, Reichardt HM, Gartner J, Bartolomei MS, Fang M, Loeb K, Keene CD, Bernstein I, Goodell M, Brat DJ, Huppke P, Neul JL, Bedalov A, Pieper AA. {{Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome}}. {Nature};2015 (Jul 15)
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16. Warrier V, Chakrabarti B, Murphy L, Chan A, Craig I, Mallya U, Lakatosova S, Rehnstrom K, Peltonen L, Wheelwright S, Allison C, Fisher SE, Baron-Cohen S. {{A Pooled Genome-Wide Association Study of Asperger Syndrome}}. {PLoS One};2015;10(7):e0131202.
Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1×10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.
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17. Ws A, Zwaigenbaum L, Nicholas D, Sharon R. {{Factors influencing autism spectrum disorder screening by community paediatricians}}. {Paediatr Child Health};2015 (Jun-Jul);20(5):e20-24.
BACKGROUND: In most cases, autism spectrum disorders (ASD) can be reliably diagnosed at two to three years of age. However, Canadian data reveal a median age at diagnosis of approximately four years. OBJECTIVE: To examine general paediatricians’ practices regarding ASD screening and identify factors that influence decisions regarding the use of ASD screening tools. METHODS: Using a qualitative inquiry-based interpretive description approach, 12 paediatricians from four practice groups participated in four focus groups and one individual interview. These were conducted using semistructured interviews, digitally recorded and transcribed verbatim. RESULTS: Five main domains of themes were identified related to screening tool use: benefits; needs not addressed; elements that limit utility; elements that encourage utility; and implementation challenges. Factors influencing practice included availability of time, comfort with screening tool use, previous use and knowledge about specific tools. Systemic factors included knowledge and access to community resources, as well as the ability to provide support to the child and family. CONCLUSION: The results from the present study identified important factors that influence paediatric practice in ASD screening. As screening tools improve, it will be important to examine the implementation and effectiveness of screening tools and strategies for increased uptake. Future research will also need to attend to the practical needs of physicians and communities in the aim of earlier diagnosis and rapid access to interventional resources.
