1. Allen R, Walsh R, Zangwill N. {{The same, only different: what can responses to music in autism tell us about the nature of musical emotions?}}. {Front Psychol};2013;4:156.
Lien vers le texte intégral (Open Access ou abonnement)
2. Cheng Y, Quinn JF, Weiss LA. {{An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk}}. {Hum Mol Genet};2013 (Apr 10)
To date, genome-wide single nucleotide polymorphism (SNP) and copy number variant (CNV) association studies of autism spectrum disorders (ASDs) have led to promising signals but not to easily interpretable or translatable results. Our own genome-wide association study (GWAS) showed significant association to an intergenic SNP near Semaphorin 5A (SEMA5A) and provided evidence for reduced expression of the same gene. In a novel GWAS follow-up approach, we map an expression regulatory pathway for a GWAS candidate gene, SEMA5A, in silico by using population expression and genotype datasets. We find that the SEMA5A regulatory network significantly overlaps rare autism-specific CNVs. The SEMA5A regulatory network includes previous autism candidate genes and regions including MACROD2, A2BP1, MCPH1, MAST4, CDH8, CADM1, FOXP1, AUTS2, MBD5, 7q21, 20p, USH2A, KIRREL3, DBF4B and RELN, among others. Our results provide: 1) a novel data-derived network implicated in autism, 2) evidence that the same pathway seeded by an initial SNP association shows association with rare genetic variation in ASDs, 3) a potential mechanism of action and interpretation for the previous autism candidate genes and genetic variants that fall in this network, and 4) a novel approach that can be applied to other candidate genes for complex genetic disorders. We take a step towards better understanding the significance of SEMA5A pathways in autism that can guide interpretation of many other genetic results in ASDs.
Lien vers le texte intégral (Open Access ou abonnement)
3. Clark AI, Hughes PS, Grube M, Stewart ME. {{Autistic Traits and Sensitivity to Interference With Flavour Identification}}. {Autism Res};2013 (Apr 10)
We assessed whether autistic traits are related to the ability to identify flavour. In general, the colour of the food or drink facilitates identification of its flavour. In the current study, the colour of drinks either provided congruent, incongruent or ambiguous (colourless) information about the flavour. Participants identified the flavours of 12 drinks from a list and completed a measure of autistic traits, the Autism-Spectrum Quotient (AQ). In line with previous studies, flavour identification was impaired in incongruent conditions, while identification in congruent conditions was not improved when compared with that in ambiguous conditions. AQ scores were related to flavour identification in incongruent conditions, in that as the AQ score increased, accuracy of flavour identification decreased. There were no relationships found in the congruent or ambiguous conditions. This finding is in line with the idea that conflicting sensory information may be more disruptive for individuals on the autism spectrum. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
4. Fox SE, Wagner JB, Shrock CL, Tager-Flusberg H, Nelson CA. {{Neural processing of facial identity and emotion in infants at high-risk for autism spectrum disorders}}. {Front Hum Neurosci};2013;7:89.
Deficits in face processing and social impairment are core characteristics of autism spectrum disorder. The present work examined 7-month-old infants at high-risk for developing autism and typically developing controls at low-risk, using a face perception task designed to differentiate between the effects of face identity and facial emotions on neural response using functional Near-Infrared Spectroscopy. In addition, we employed independent component analysis, as well as a novel method of condition-related component selection and classification to identify group differences in hemodynamic waveforms and response distributions associated with face and emotion processing. The results indicate similarities of waveforms, but differences in the magnitude, spatial distribution, and timing of responses between groups. These early differences in local cortical regions and the hemodynamic response may, in turn, contribute to differences in patterns of functional connectivity.
Lien vers le texte intégral (Open Access ou abonnement)
5. Kushki A, Drumm E, Pla Mobarak M, Tanel N, Dupuis A, Chau T, Anagnostou E. {{Investigating the autonomic nervous system response to anxiety in children with autism spectrum disorders}}. {PLoS One};2013;8(4):e59730.
Assessment of anxiety symptoms in autism spectrum disorders (ASD) is a challenging task due to the symptom overlap between the two conditions as well as the difficulties in communication and awareness of emotions in ASD. This motivates the development of a physiological marker of anxiety in ASD that is independent of language and does not require observation of overt behaviour. In this study, we investigated the feasibility of using indicators of autonomic nervous system (ANS) activity for this purpose. Specially, the objectives of the study were to 1) examine whether or not anxiety causes significant measurable changes in indicators of ANS in an ASD population, and 2) characterize the pattern of these changes in ASD. We measured three physiological indicators of the autonomic nervous system response (heart rate, electrodermal activity, and skin temperature) during a baseline (movie watching) and anxiety condition (Stroop task) in a sample of typically developing children (n = 17) and children with ASD (n = 12). The anxiety condition caused significant changes in heart rate and electrodermal activity in both groups, however, a differential pattern of response was found between the two groups. In particular, the ASD group showed elevated heart rate during both baseline and anxiety conditions. Elevated and blunted phasic electrodermal activity were found in the ASD group during baseline and anxiety conditions, respectively. Finally, the ASD group did not show the typical decrease in skin temperature in response to anxiety. These results suggest that 1) signals of the autonomic nervous system may be used as indicators of anxiety in children with ASD, and 2) ASD may be associated with an atypical autonomic response to anxiety that is most consistent with sympathetic over-arousal and parasympathetic under-arousal.
Lien vers le texte intégral (Open Access ou abonnement)
6. Malik M, Cao F, Tauqeer Z, Sheikh AM, Wen G, Nagori A, Yang K, Brown WT, Li X. {{Erratum to « NF-B Signaling in the Brain of Autistic Subjects »}}. {Mediators Inflamm};2013;2013:691975.
[This corrects the article , PMID: 22046080.].
Lien vers le texte intégral (Open Access ou abonnement)
7. Marshall J, Hill RJ, Dodrill P. {{A survey of practice for clinicians working with children with autism spectrum disorders and feeding difficulties}}. {Int J Speech Lang Pathol};2013 (Apr 12)
The aim of this study was to document information from allied health clinicians about children on their caseload with autism spectrum disorders and feeding difficulties. An electronic survey was disseminated to clinicians working with this group around Australia, where 150 responses were returned and 96 were able to be analysed. Variability in responses was observed for service delivery models, frequency of input, referral reasons, and intervention choices. The majority of respondents identified limited-to-average knowledge of feeding therapy options for this population. Clinician confidence was significantly correlated with perceived therapy success. Results of the survey suggest a need for clinical guidelines in the area to direct practice. Low levels of clinician confidence and perceived therapy success also highlight a need for ongoing research and training.
Lien vers le texte intégral (Open Access ou abonnement)
8. Srinivasan SM, Bhat AN. {{A review of « music and movement » therapies for children with autism: embodied interventions for multisystem development}}. {Front Integr Neurosci};2013;7:22.
The rising incidence of Autism Spectrum Disorders (ASDs) has led to a surge in the number of children needing autism interventions. This paper is a call to clinicians to diversify autism interventions and to promote the use of embodied music-based approaches to facilitate multisystem development. Approximately 12% of all autism interventions and 45% of all alternative treatment strategies in schools involve music-based activities. Musical training impacts various forms of development including communication, social-emotional, and motor development in children with ASDs and other developmental disorders as well as typically developing children. In this review, we will highlight the multisystem impairments of ASDs, explain why music and movement therapies are a powerful clinical tool, as well as describe mechanisms and offer evidence in support of music therapies for children with ASDs. We will support our claims by reviewing results from brain imaging studies reporting on music therapy effects in children with autism. We will also discuss the critical elements and the different types of music therapy approaches commonly used in pediatric neurological populations including autism. We provide strong arguments for the use of music and movement interventions as a multisystem treatment tool for children with ASDs. Finally, we also make recommendations for assessment and treatment of children with ASDs, and provide directions for future research.
Lien vers le texte intégral (Open Access ou abonnement)
9. Stein TP, Schluter MD, Steer RA, Ming X. {{Autism and Phthalate Metabolite Glucuronidation}}. {J Autism Dev Disord};2013 (Apr 11)
Exposure to environmental chemicals may precipitate autism spectrum disorders (ASD) in genetically susceptible children. Differences in the efficiency of the glucuronidation process may substantially modulate substrate concentrations and effects. To determine whether the efficiency of this pathway is compromised in children with ASD, we measured the efficiency of glucuronidation for a series of metabolites derived from the commonly used plasticizer, diethylhexyl phthalate. Spot urines were collected and analyzed for the fraction of each metabolite conjugated by isotope dilution-liquid chromatography mass spectrometry-mass spectrometry. The degree of glucuronidation was lower with the ASD group. The glucuronidation pathway may differ in some children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Thabet EM, Zaghloul HS. {{Auditory profile and high resolution CT scan in autism spectrum disorders children with auditory hypersensitivity}}. {Eur Arch Otorhinolaryngol};2013 (Apr 12)
Autism is the third most common developmental disorder, following mental retardationand cerebral palsy. ASD children have been described more often as beingpreoccupied with or agitated by noise. The aim of this study was to evaluate theprevalence and clinical significance of semicircular canal dehiscence detected on CTimages in ASD children with intolerance to loud sounds in an attempt to find ananatomical correlate with hyperacusis.14 ASD children with auditory hypersensitivity and 15 ASD children without auditoryhypersensitivity as control group age and gender matched were submitted to historytaking, otological examination, tympanometry and acoustic reflex thresholdmeasurement. ABR was done to validate normal peripheral hearing and integrity ofauditory brain stem pathway. High resolution CT scan petrous and temporal boneimaging was performed to all participated children. All participants had normal hearingsensitivity in ABR testing. Absolute ABR peak waves of I and III showed no statisticallysignificant difference between the two groups, while absolute wave V peak andinterpeak latencies I-V and III-V were shorter in duration in study group whencompared to the control group. CT scans revealed SSCD in 4 out of 14 of the studygroup (29 %), the dehiscence was bilateral in one patient and unilateral in threepatients. None of control group showed SSCD. In conclusion, we have reportedevidence that apparent hypersensitivity to auditory stimuli (short conduction time in ABR) despite the normal physiological measures in ASD children with auditoryhypersensitivity can provide a clinical clue of a possible SSCD.
Lien vers le texte intégral (Open Access ou abonnement)
11. Todorova A, Litvinenko I, Todorov T, Tincheva R, Avdjieva D, Tincheva S, Mitev V. {{A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier}}. {Clin Genet};2013 (Mar 22)
The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS) cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG)n repeat expansion in the FMR1 gene is associated with fragile X syndrome. We report on a family with two affected boys, the elder diagnosed with fragile X syndrome, the younger with DMD, and both suffering from severe ichthyosis. The family was analyzed by polymerase chain reaction, multiplex ligation-dependent probe amplification and haplotype analysis. The mother proved to be an asymptomatic carrier of all three non-contiguous mutation events, involving the STS gene, the DMD gene and a FMR1 expansion. To the best of our knowledge, this is the first description of an asymptomatic carrier of three different X-linked disorders, involving severe genetic rearrangements on both long and short arms of the X chromosomes. The boy with fragile X syndrome has inherited a triple recombinant maternal X chromosome, this way inheriting the FMR1 expansion and ichthyosis, originating most probably from different maternal Xes and excluding the DMD gene deletion. The transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations.
Lien vers le texte intégral (Open Access ou abonnement)
12. Tran PL, Lehti V, Lampi KM, Helenius H, Suominen A, Gissler M, Brown AS, Sourander A. {{Smoking during Pregnancy and Risk of Autism Spectrum Disorder in a Finnish National Birth Cohort}}. {Paediatr Perinat Epidemiol};2013 (May);27(3):266-274.
BACKGROUND: Results of previous population-based studies examining associations between smoking during pregnancy and autism spectrum disorders (ASD) are contradictory. Furthermore, there is a lack of population-based studies examining the relationship between smoking during pregnancy and the main diagnostic subtypes of ASD. METHODS: We conducted a population-based nested case-control study based on the Finnish Prenatal Study of Autism (FIPS-A) among liveborn infants delivered in Finland between 1987 and 2005. Data on maternal smoking during pregnancy were available from the Finnish Medical Birth Register (FMBR) since October 1990. Data on ASD in the offspring were obtained from the Finnish Hospital Discharge Register (FHDR). RESULTS: Among the three subtypes of ASD, maternal smoking during the whole pregnancy was associated with an increased risk of pervasive developmental disorder (PDD) (odds ratio 1.2, 95% confidence interval 1.0, 1.5). The increase in odds persisted after controlling for maternal age, mother’s socio-economic and psychiatric status, and infant’s weight for gestational age. However, smoking exposure limited to the first trimester was not associated with PDD or any of the other ASD subtypes. CONCLUSIONS: Maternal smoking is related to a modest increase in risk of PDD, while no associations were observed for childhood autism and Asperger’s syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
13. Zwaigenbaum L, Bryson S, Garon N. {{Early Identification of Autism Spectrum Disorders}}. {Behav Brain Res};2013 (Apr 12)
Earlier identification and diagnosis of autism spectrum disorders (ASD) can improve opportunities for children to benefit from intervention and lessen the burden on concerned parents. This review summarizes current knowledge about early signs of autism. Convergent data from both retrospective studies and prospective studies of high-risk infants indicate that ASD symptoms emerge in the first two years of life, affecting multiple developmental domains, mapping onto symptom dimensions consistent with current diagnostic frameworks including social-communication, and repetitive interests/behaviors but also extending to motor delays and atypical regulation of attention and emotion. Recent findings have shed new light on patterns of symptom onset and progression, and promise to inform early detection and diagnosis. Further attention to effective application of new findings and related challenges in building health system capacity to ensure timely access to specialized assessment and interventions is needed to fully realize the promise of improved outcomes resulting from this research.
