1. Alwi N, Harun D, Jh L. {{Multidisciplinary Parent Education for Caregivers of Children With Autism Spectrum Disorders (ASD): Implications for Clinical Practice}}. {Arch Psychiatr Nurs}. 2015; 29(1): 5.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bilbo SD, Nevison CD, Parker W. {{A model for the induction of autism in the ecosystem of the human body: the anatomy of a modern pandemic?}}. {Microb Ecol Health Dis}. 2015; 26: 26253.
BACKGROUND: The field of autism research is currently divided based on a fundamental question regarding the nature of autism: Some are convinced that autism is a pandemic of modern culture, with environmental factors at the roots. Others are convinced that the disease is not pandemic in nature, but rather that it has been with humanity for millennia, with its biological and neurological underpinnings just now being understood. OBJECTIVE: In this review, two lines of reasoning are examined which suggest that autism is indeed a pandemic of modern culture. First, given the widely appreciated derailment of immune function by modern culture, evidence that autism is strongly associated with aberrant immune function is examined. Second, evidence is reviewed indicating that autism is associated with ‘triggers’ that are, for the most part, a construct of modern culture. In light of this reasoning, current epidemiological evidence regarding the incidence of autism, including the role of changing awareness and diagnostic criteria, is examined. Finally, the potential role of the microbial flora (the microbiome) in the pathogenesis of autism is discussed, with the view that the microbial flora is a subset of the life associated with the human body, and that the entire human biome, including both the microbial flora and the fauna, has been radically destabilized by modern culture. CONCLUSIONS: It is suggested that the unequivocal way to resolve the debate regarding the pandemic nature of autism is to perform an experiment: monitor the prevalence of autism after normalizing immune function in a Western population using readily available approaches that address the well-known factors underlying the immune dysfunction in that population.
3. Broekhof E, Ketelaar L, Stockmann L, van Zijp A, Bos MG, Rieffe C. {{The Understanding of Intentions, Desires and Beliefs in Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
This study provides a comprehensive picture of three core elements (Intentions, Desires, Beliefs) of Theory of Mind (ToM) in young children with autism spectrum disorder (ASD, n = 63, Mage = 55 months) and typically developing children (TD, n = 69, Mage = 54 months). Outcomes showed that ASD and TD children understood intentional actions equally well. Yet, children with ASD lacked the social interest to share intentions. Additionally, children with ASD had more difficulties in understanding others’ desires and beliefs compared to their TD peers. It is discussed whether the ToM delay seen in children with ASD is a motivational or a conceptual problem.
Lien vers le texte intégral (Open Access ou abonnement)
4. Call NA, Simmons CA, Mevers JE, Alvarez JP. {{Clinical Outcomes of Behavioral Treatments for Pica in Children with Developmental Disabilities}}. {J Autism Dev Disord}. 2015.
Pica is a potentially deadly form of self-injurious behavior most frequently exhibited by individuals with developmental and intellectual disabilities. Research indicates that pica can be decreased with behavioral interventions; however, the existing literature reflects treatment effects for small samples (n = 1-4) and the overall success of such treatments is not well-understood. This study quantified the overall effect size by examining treatment data from all patients seen for treatment of pica at an intensive day-treatment clinical setting (n = 11), irrespective of treatment success. Results demonstrate that behavioral interventions are highly effective treatments for pica, as determined by the large effect size for individual participants (i.e., NAP scores >/= .70) and large overall treatment effect size (Cohen’s d = 1.80).
Lien vers le texte intégral (Open Access ou abonnement)
5. Ellerbeck K, Smith C, Courtemanche A. {{Care of Children with Autism Spectrum Disorder}}. {Prim Care}. 2015; 42(1): 85-98.
Autism spectrum disorder (ASD) is both common and complicated. Many children with ASD are not identified until school age. The primary care physician (PCP) plays a vital role in recognizing the symptoms of ASD and in making referrals for definitive diagnosis. Most children with ASD also have co-occurring learning, medical, and/or mental health problems that require collaboration across the educational, medical, and mental health systems. This article reviews the symptoms of ASD, screening tools for school-aged children suspected of having ASD, and the PCP’s role in identifying ASD and managing co-occurring conditions in the primary care medical home.
Lien vers le texte intégral (Open Access ou abonnement)
6. Hellendoorn A, Wijnroks L, van Daalen E, Dietz C, Buitelaar JK, Leseman P. {{Motor functioning, exploration, visuospatial cognition and language development in preschool children with autism}}. {Res Dev Disabil}. 2015; 39C: 32-42.
In order to understand typical and atypical developmental trajectories it is important to assess how strengths or weaknesses in one domain may be affecting performance in other domains. This study examined longitudinal relations between early fine motor functioning, visuospatial cognition, exploration, and language development in preschool children with ASD and children with other developmental delays/disorders. The ASD group included 63 children at T1 (Mage=27.10 months, SD=8.71) and 46 children at T2 (Mage=45.85 months, SD=7.16). The DD group consisted of 269 children at T1 (Mage=17.99 months, SD=5.59), and 121 children at T2 (Mage=43.51 months, SD=3.81). A subgroup nested within the total sample was randomly selected and studied in-depth on exploratory behavior. This group consisted of 50 children, 21 children with ASD (Mage=27.57, SD=7.09) and 29 children with DD (Mage=24.03 months, SD=6.42). Fine motor functioning predicted language in both groups. Fine motor functioning was related to visuospatial cognition in both groups and related to object exploration, spatial exploration, and social orientation during exploration only in the ASD group. Visuospatial cognition and all exploration measures were related to both receptive and expressive language in both groups. The findings are in line with the embodied cognition theory, which suggests that cognition emerges from and is grounded in the bodily interactions of an agent with the environment. This study emphasizes the need for researchers and clinicians to consider cognition as emergent from multiple interacting systems.
Lien vers le texte intégral (Open Access ou abonnement)
7. Hommer RE, Swedo SE. {{Schizophrenia and Autism-Related Disorders}}. {Schizophr Bull}. 2015.
Lien vers le texte intégral (Open Access ou abonnement)
8. Jiang J, Liu F, Wan X, Jiang C. {{Perception of Melodic Contour and Intonation in Autism Spectrum Disorder: Evidence From Mandarin Speakers}}. {J Autism Dev Disord}. 2015.
Tone language experience benefits pitch processing in music and speech for typically developing individuals. No known studies have examined pitch processing in individuals with autism who speak a tone language. This study investigated discrimination and identification of melodic contour and speech intonation in a group of Mandarin-speaking individuals with high-functioning autism. Individuals with autism showed superior melodic contour identification but comparable contour discrimination relative to controls. In contrast, these individuals performed worse than controls on both discrimination and identification of speech intonation. These findings provide the first evidence for differential pitch processing in music and speech in tone language speakers with autism, suggesting that tone language experience may not compensate for speech intonation perception deficits in individuals with autism.
Lien vers le texte intégral (Open Access ou abonnement)
9. Keesler JM. {{Applying for Supplemental Security Income (SSI) for Individuals With Intellectual and Developmental Disabilities: Family and Service Coordinator Experiences}}. {Intellect Dev Disabil}. 2015; 53(1): 42-57.
In the United States, the Social Security Administration (SSA) provides financial benefits through Supplemental Security Income (SSI) to many individuals with intellectual and developmental disabilities (IDD). Family members and service coordinators (SCs) provide a critical role in applying for SSI on behalf of individuals with IDD. The present study uses a street-level lens to understand the implementation of SSI policy from the perspective of family respondents and SCs based upon their experiences with the application process. Using surveys developed from focus groups and interviews with family members and SCs, the study explores parts of the application process that facilitated success and barriers that hindered the procurement of benefits, and also elicited suggestions for improvement of the process. Survey respondents included 122 family members and 122 SCs in the western region of New York State. Findings reflect experiences at the various steps of the application process including initial applications, interviews and assessments, as well as experiences with SSA workers. Despite several significant differences, a general congruence between family respondents and SCs suggests considerable opportunities for improvement. This study provides a preliminary evaluation of a complex process from two different perspectives, with implications for policy, practice and future research.
Lien vers le texte intégral (Open Access ou abonnement)
10. Kerns CM, Maddox BB, Kendall PC, Rump K, Berry L, Schultz RT, Souders MC, Bennett A, Herrington J, Miller J. {{Brief measures of anxiety in non-treatment-seeking youth with autism spectrum disorder}}. {Autism}. 2015.
This study investigated the accuracy of brief anxiety scales for non-treatment-seeking youth with autism spectrum disorder. In all, 54 youth (7-17 years; IQ: 67-158) with autism spectrum disorder and their parents completed (a) an expanded version of the Anxiety Disorders Interview Schedule-Child/Parent designed to capture typical and atypical fears and (b) brief scales of anxiety symptoms (Behavior Assessment Schedule for Children, Second Edition; Screen for Child Anxiety and Related Emotional Disorders; Negative Affective Self-Statement Questionnaire; Pediatric Anxiety Rating Scale). The results indicate that measures lacked adequate sensitivity and specificity, and the detection of atypical fears was particularly poor. Revised cut scores are offered, but refined and/or revised instruments are likely needed for research on youth with autism spectrum disorder.
Lien vers le texte intégral (Open Access ou abonnement)
11. Lee EJ, Choi SY, Kim E. {{NMDA receptor dysfunction in autism spectrum disorders}}. {Curr Opin Pharmacol}. 2015; 20C: 8-13.
Abnormalities and imbalances in neuronal excitatory and inhibitory synapses have been implicated in diverse neuropsychiatric disorders including autism spectrum disorders (ASDs). Increasing evidence indicates that dysfunction of NMDA receptors (NMDARs) at excitatory synapses is associated with ASDs. In support of this, human ASD-associated genetic variations are found in genes encoding NMDAR subunits. Pharmacological enhancement or suppression of NMDAR function ameliorates ASD symptoms in humans. Animal models of ASD display bidirectional NMDAR dysfunction, and correcting this deficit rescues ASD-like behaviors. These findings suggest that deviation of NMDAR function in either direction contributes to the development of ASDs, and that correcting NMDAR dysfunction has therapeutic potential for ASDs.
Lien vers le texte intégral (Open Access ou abonnement)
12. Ota M, Stewart ME, Petrou AM, Dickie C. {{Lexical Effects on Children’s Speech Processing: Individual Differences Reflected in the Autism-Spectrum Quotient (AQ)}}. {J Speech Lang Hear Res}. 2015.
Purpose: To examine whether children exhibit the same relationship that adults show between the lexical influence on phoneme identification and individual variation on the Autism-Spectrum Quotient (AQ). Method: Data from 62 4- to 7-year-olds with no diagnosis of autism were analyzed. The main task involved identification of the initial sound in pairs of voice-onset time continua with a real word on one end and a nonword on the other (e.g., gift-kift, giss-kiss). Participants were also given the children’s version of the Autism-Spectrum Quotient (AQ-child) and a second instrument related to autistic-like traits, the Social Responsiveness Scale (SRS). Results: The lexical shift was related to the AQ (particularly to its attention switching subscale), but not to the SRS. Conclusions: The size of lexical effects on children’s speech perception can be predicted by AQ scores but not necessarily by other measures of autistic-like traits. The results indicate that speech perception in children manifests individual differences along some general dimension of cognitive style reflected in the AQ, possibly in relation to local/global information processing.
Lien vers le texte intégral (Open Access ou abonnement)
13. Pitcher MR, Herrera JA, Buffington SA, Kochukov MY, Merrit JK, Fisher AR, Schanen NC, Costa-Mattioli M, Neul JL. {{Rett Syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene}}. {Hum Mol Genet}. 2015.
Rett syndrome is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome disease-causing nonsense mutations is treatment with nonsense mutation suppressing drugs that allow expression of full length proteins from mutated genes with premature in-frame stop codons. To determine if this strategy is useful in RTT, we characterized a new mouse model containing a knock-in nonsense mutation (p.R255X) in the Mecp2 locus (Mecp2R255X). To determine whether the truncated gene product acts as a dominant negative allele and if RTT-like phenotypes could be rescued by expression of wild type protein, we genetically introduced an extra copy of MECP2 via a MECP2 transgene. The addition of MECP2 transgene to Mecp2R255X mice abolished the phenotypic abnormalities and resulted in near complete rescue. Expression of MECP2 transgene Mecp2R255X allele also rescued mTORC1 signaling abnormalities discovered in mice with loss of function and overexpression of Mecp2. Finally, we treated Mecp2R255X embryonic fibroblasts with the nonsense mutation suppressing drug gentamicin and we were able to induce expression of full length MeCP2 from the mutant p.R255X allele. These data provide proof of concept that the p.R255X mutation of MECP2 is amenable to the nonsense suppression therapeutic strategy and provide guidelines for the extent of rescue that can be expected by re-expressing MeCP2 protein.
Lien vers le texte intégral (Open Access ou abonnement)
14. Postorino V, Fatta LM, De Peppo L, Giovagnoli G, Armando M, Vicari S, Mazzone L. {{Longitudinal comparison between male and female preschool children with autism spectrum disorder}}. {J Autism Dev Disord}. 2015.
Epidemiological studies have highlighted a strong male bias in autism spectrum disorder (ASD), however few studies have examined gender differences in autism symptoms, and available findings are inconsistent. The aim of the present study is to investigate the longitudinal gender differences in developmental profiles of 30 female and 30 male age-matched preschool children with ASD. All the children underwent a comprehensive evaluation at T0 and at T1. Our results have shown no significant interaction between time and gender for predicting autism symptoms, developmental quotient, parental stress, children’s adaptive skills and behavior problems. Shedding light on the developmental trajectories in ASD could help clinicians to recognize children with ASD at an earlier age and contribute to the development of appropriate treatments.
Lien vers le texte intégral (Open Access ou abonnement)
15. Stadnick NA, Stahmer A, Brookman-Frazee L. {{Preliminary Effectiveness of Project ImPACT: A Parent-Mediated Intervention for Children with Autism Spectrum Disorder Delivered in a Community Program}}. {J Autism Dev Disord}. 2015.
This is a pilot study of the effectiveness of Project ImPACT, a parent-mediated intervention for ASD delivered in a community program. The primary aim was to compare child and parent outcomes between the intervention group and a community comparison for 30 young children with ASD at baseline and 12 weeks. The secondary aim was to identify parent factors associated with changes in child outcomes. Results indicated significant improvement in child communication skills and a strong trend for parent intervention adherence for the intervention group from baseline to 12 weeks. Higher baseline parenting stress was negatively related to child social gains from baseline to 12 weeks. Findings provide further support for delivering parent-mediated interventions in community settings to children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Tang L, Xiao B, Xu Y, Ji X, Jiang W, Liu X, Tao J. {{[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome.]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi}. 2015; 32(1): 11-5.
OBJECTIVE To analyze (CGG)n repeats sequence and AGG interspersion correlated with unstable expansion of FMR1 gene in a general Chinese population. METHODS AmplideX FMR1 PCR Kit was used to amplify 380 X chromosomes from randomly selected 176 males and 102 females, 11 permutation carriers and 10 full mutation patients have served as controls. Results of capillary electrophoresis were analyzed with GeneMapper software Version 4.0. SPSS 11.0 software was used for statistical analysis. RESULTS The ratio of heterozygous females was 64.70%. The number of alleles in general males and females was 15 and 14, the classes of AGG pattern was 26 and 27, respectively. The range of alleles was between 17 to 45 CGG repeats in males and 21 to 44 CGG repeats in females, and 1 male was identified as gray zone carrier. The most frequent allele was 29 CGG repeats, which was followed by 30 and 36 repeats, while 28 CGG repeats were absent. The most common AGG pattern was 9A9A9, 99.21% of the population was detected with different forms and numbers of AGG interruption, and 6A interruption pattern was found in 10.02% samples especially in individuals with more CGG repeats. However, 57.58% of control samples had no AGG interruption, and none of the controls had 6A interruption pattern. No significant difference was observed in allele frequent distribution of (CGG)n repeats and AGG interspersion patterns between the males and females (P > 0.05), and AGGs was significantly different between general population and controls (P < 0.05). CONCLUSION AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China, 9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.
Lien vers le texte intégral (Open Access ou abonnement)
17. Toh MC, Allen-Vercoe E. {{The human gut microbiota with reference to autism spectrum disorder: considering the whole as more than a sum of its parts}}. {Microb Ecol Health Dis}. 2015; 26: 26309.
The human gut microbiota is a complex microbial ecosystem that contributes an important component towards the health of its host. This highly complex ecosystem has been underestimated in its importance until recently, when a realization of the enormous scope of gut microbiota function has been (and continues to be) revealed. One of the more striking of these discoveries is the finding that the gut microbiota and the brain are connected, and thus there is potential for the microbiota in the gut to influence behavior and mental health. In this short review, we outline the link between brain and gut microbiota and urge the reader to consider the gut microbiota as an ecosystem ‘organ’ rather than just as a collection of microbes filling a niche, using the hypothesized role of the gut microbiota in autism spectrum disorder to illustrate the concept.