1. Brandenburg-Goddard MN, Rijn SV, Rombouts SA, Veer IM, Swaab H. {{A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism}}. {Social cognitive and affective neuroscience}. 2014 Jan 5.
Klinefelter Syndrome (KS) is a genetic syndrome characterized by the presence of an extra X chromosome that appears to increase the risk of psychopathology, such as autism symptoms. The current study used functional MRI to determine underlying mechanisms related to this risk, with the aim of gaining insight into neural mechanisms behind social-cognitive dysfunction in KS and autism, and understanding similarities and differences in social information processing deficits. Fourteen boys with KS, seventeen boys with autism spectrum disorders (ASD) and nineteen non-clinical male controls aged 10-18 were scanned while matching and labeling facial expressions (i.e. face processing and affect labeling, respectively). No group differences in neural activation were found during face processing. However, during affect labeling the ASD group showed increased activation in the amygdala compared to controls, while the KS group showed increased activation in frontal areas compared to both controls and the ASD group. No group differences in task performance were found. Although behavioral symptoms of social dysfunction appear similar both in boys with KS and ASD, this is the first study to demonstrate different underlying etiologies. These results may aid in identifying different pathways to autism symptoms, which may help understanding variability within the ASD spectrum.
Lien vers le texte intégral (Open Access ou abonnement)
2. Brockevelt BL, Nissen R, Schweinle WE, Kurtz E, Larson KJ. {{A comparison of the Sensory Profile scores of children with autism and an age- and gender-matched sample}}. {South Dakota medicine : the journal of the South Dakota State Medical Association}. 2013 Nov;66(11):459, 61, 63-5.
BACKGROUND: The Centers for Disease Control and Prevention (CDC) reports that autism spectrum disorder (ASD) affects one in 88 children in the United States. The American Psychiatric Association’s Diagnostic and Statistical Manual, Text Revision (DSM-IV-TR) defines ASD as a pervasive neurodevelopmental disorder characterized by qualitative impairment in communication and social interaction, and restricted, repetitive and stereotyped behavior patterns. The purpose of this study was to determine whether children with autism differ in their response to sensory input relative to typically developing age- and gender-matched peers. METHOD: The Sensory Profile (SP) is a 125-item caregiver questionnaire designed to measure a child’s ability to process sensory information and to profile the effect of sensory processing on daily life activity. The results of the SP of 21 participants with autism ages 3 to 9 years were compared with an age- and gender-matched sample of typically developing children. RESULTS: Significant differences were found across all four SP quadrants (Registration, Seeking, Sensitivity, and Avoiding) as well as eight of the nine SP factor scores. This study adds to the evidence indicating that children with autism process and respond to sensory input differently than typically-developing peers. CONCLUSION: The findings from this study support previous research findings that sensory processing differences exist between children with ASD and their typically-developing peers, as measured by the SP.
3. De Felice C, Cortelazzo A, Signorini C, Guerranti R, Leoncini S, Pecorelli A, Durand T, Galano JM, Oger C, Zollo G, Montomoli B, Landi C, Bini L, Valacchi G, Ciccoli L, Hayek J. {{Effects of omega -3 Polyunsaturated Fatty Acids on Plasma Proteome in Rett Syndrome}}. {Mediators of inflammation}. 2013;2013:723269.
The mechanism of action of omega-3 polyunsaturated fatty acids ( omega -3 PUFAs) is only partially known. Prior reports suggest a partial rescue of clinical symptoms and oxidative stress (OS) alterations following omega -3 PUFAs supplementation in patients with Rett syndrome (RTT), a devastating neurodevelopmental disorder with transient autistic features, affecting almost exclusively females and mainly caused by sporadic mutations in the gene encoding the methyl CpG binding protein 2 (MeCP2) protein. Here, we tested the hypothesis that omega -3 PUFAs may modify the plasma proteome profile in typical RTT patients with MECP2 mutations and classic phenotype. A total of 24 RTT girls at different clinical stages were supplemented with omega -3 PUFAs as fish oil for 12 months and compared to matched healthy controls. The expression of 16 proteins, mainly related to acute phase response (APR), was changed at the baseline in the untreated patients. Following omega -3 PUFAs supplementation, the detected APR was partially rescued, with the expression of 10 out of 16 (62%) proteins being normalized. omega -3 PUFAs have a major impact on the modulation of the APR in RTT, thus providing new insights into the role of inflammation in autistic disorders and paving the way for novel therapeutic strategies.
Lien vers le texte intégral (Open Access ou abonnement)
4. Fu X, Mei Z, Sun L. {{Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population}}. {Genetics and molecular biology}. 2013 Dec;36(4):486-9.
Autism is a childhood neuro-developmental disorder, and Reelin (RELN) is an important candidate gene for influencing autism. This study aimed at investigating the influence of genetic variants of the RELN gene on autism susceptibility. In this study, 205 autism patients and 210 healthy controls were recruited and the genetic variants of the RELN gene were genotyped by the created restriction site-polymerase chain reaction (CRS-PCR) method. The influence of genetic variants on autism susceptibility was analyzed by association analysis, and the g.296596G > A genetic variant in exon10 of the RELN gene was detected. The frequencies of allele/genotype in autistic patients were significantly different from those in healthy controls, and a statistically significant association was detected between this genetic variant and autism susceptibility. Our data lead to the inference that the g.296596G > A genetic variant in the RELN gene has a potential influence on autism susceptibility in the Chinese Han population.
Lien vers le texte intégral (Open Access ou abonnement)
5. Rivard M, Terroux A, Parent-Boursier C, Mercier C. {{Determinants of Stress in Parents of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Jan 3.
Parents of children with autism spectrum disorder are known to experience more stress than parents of children with any other conditions. The current study describes the parental stress of 118 fathers and 118 mothers at the onset of their children’s Early Intensive Behavioral Intervention program. The objectives of the study were to compare and analyze each parent’s stress and to identify factors that might predict their stress. Results indicated that fathers reported higher levels of stress than mothers. Correlations indicated that the stress levels of both parents were associated with their child’s age, intellectual quotient, severity of autistic symptoms, and adaptive behaviors. Paternal stress, but not maternal stress, was predicted by severity of autistic symptoms and child’s gender. Results are discussed in terms of their implications for services and early interventions.
Lien vers le texte intégral (Open Access ou abonnement)
6. Williams K, Woolfenden S, Roberts J, Rodger S, Bartak L, Prior M. {{Autism in context 1: Classification, counting and causes}}. {Journal of paediatrics and child health}. 2014 Jan 3.
This review paper describes our current perspective of autism spectrum disorders (ASD), taking into account past, current and future classification systems and the evolving definitions of ASD. International prevalence rates from 1965 to 2012 are presented and key issues, including whether there is an epidemic of autism and what this means in terms of thinking about possible causes of autism, are discussed. Also discussed is the need for high quality national data collection in Australia and the evidence, and lack of evidence, for the many theoretical causes of ASD. The lack of robust classification of autism along with limited high quality evidence base about its prevalence and possible causes leaves ample space for future discoveries.
