1. Chiu YN, Chou MC, Lee JC, Wong CC, Chou WJ, Wu YY, Chien YL, Gau SS. {{Determinants of maternal satisfaction with diagnosis disclosure of autism}}. {J Formos Med Assoc};2014 (Aug);113(8):540-548.
BACKGROUND/PURPOSE: Diagnosis disclosure is an important clinical issue in developmental disabilities, which may influence parents’ ability to cope with their child’s conditions. This paper presents the content and patterns of diagnosis-informed counseling for mothers of children with autism and investigates the determinants for maternal satisfaction with this counseling, in order to improve clinical practice. METHODS: Mothers of 151 children, aged 3-12 years, with DSM-IV autistic disorder, confirmed by the Chinese version of the Autism Diagnostic Interview-Revised, were assessed. We collected information about the mothers’ experience with diagnosis-informed counseling, their personality characteristics, and the extent to which they were satisfied with the counseling. RESULTS: Satisfaction with diagnosis-informed counseling was related more to the context of the counseling, including the attitude of the counselors and the timing and duration of counseling, than to its content. Parents’ social desirability, educational level, and employment status were negatively associated with their satisfaction with counseling. However, immediate emotion, neuroticism, and extroversion did not have a significant effect on the satisfaction with counseling. Approximately 60% of the mothers preferred to be informed of having an autistic child after the diagnosis had been confirmed. CONCLUSION: Our findings suggest that more efforts are needed to improve the quality of diagnosis-informed counseling in autism, particularly in the context of breaking the news to mothers of children with autism. Future study could further examine the moderating effect of diagnostic subtype of autism spectrum disorders, treatment response, or social support on maternal satisfaction with diagnosis-informed counseling (ClinicalTrials.gov number, NCT00494754).
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2. Davis EP, Pfaff D. {{Sexually dimorphic responses to early adversity: Implications for affective problems and autism spectrum disorder}}. {Psychoneuroendocrinology};2014 (Jun 26);49C:11-25.
During gestation, development proceeds at a pace that is unmatched by any other stage of the life cycle. For these reasons the human fetus is particularly susceptible not only to organizing influences, but also to pathogenic disorganizing influences. Growing evidence suggests that exposure to prenatal adversity leads to neurological changes that underlie lifetime risks for mental illness. Beginning early in gestation, males and females show differential developmental trajectories and responses to stress. It is likely that sex-dependent organization of neural circuits during the fetal period influences differential vulnerability to mental health problems. We consider in this review evidence that sexually dimorphic responses to early life stress are linked to two developmental disorders: affective problems (greater female prevalence) and autism spectrum disorder (greater male prevalence). Recent prospective studies illustrating the neurodevelopmental consequences of fetal exposure to stress and stress hormones for males and females are considered here. Plausible biological mechanisms including the role of the sexually differentiated placenta are discussed.
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3. Faso DJ, Sasson NJ, Pinkham AE. {{Evaluating Posed and Evoked Facial Expressions of Emotion from Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Jul 19)
Though many studies have examined facial affect perception by individuals with autism spectrum disorder (ASD), little research has investigated how facial expressivity in ASD is perceived by others. Here, naive female observers (n = 38) judged the intensity, naturalness and emotional category of expressions produced by adults with ASD (n = 6) and typically developing (TD) adults (n = 6) in both a posed condition and an evoked condition in which emotions were naturalistically elicited and validated. ASD expressions were rated as more intense and less natural than TD expressions but contrary to prediction were identified with greater accuracy, an effect driven primarily by angry expressions. Naturalness ratings of evoked expressions were positively associated with identification accuracy for TD but not ASD individuals. Collectively, these findings highlight differences, but not a reduction, in facial expressivity in ASD that do not hinder emotion recognition accuracy but may affect social interaction quality.
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4. Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD. {{Most genetic risk for autism resides with common variation}}. {Nat Genet};2014 (Jul 20)
A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is uncertain. Individual risk-associated genes have been identified from rare variation, especially de novo mutations. From this evidence, one might conclude that rare variation dominates the allelic spectrum in autism, yet recent studies show that common variation, individually of small effect, has substantial impact en masse. At issue is how much of an impact relative to rare variation this common variation has. Using a unique epidemiological sample from Sweden, new methods that distinguish total narrow-sense heritability from that due to common variation and synthesis of results from other studies, we reach several conclusions about autism’s genetic architecture: its narrow-sense heritability is approximately 52.4%, with most due to common variation, and rare de novo mutations contribute substantially to individual liability, yet their contribution to variance in liability, 2.6%, is modest compared to that for heritable variation.
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5. Shubrata KS, Sinha S, Seshadri SP, Girimaji S, Subbakrishna DK, Srinath S. {{Childhood Autism Spectrum Disorders With and Without Epilepsy: Clinical Implications}}. {J Child Neurol};2014 (Jul 17)
This prospective cross-sectional study compared 25 children with pervasive developmental disorder and epilepsy and 25 children having pervasive developmental disorder without epilepsy on pervasive developmental disorder scores, Childhood Autism Rating Scale scores, language disability, presence of regression, and epileptiform abnormalities. Epilepsy phenotype was also studied. Children with pervasive developmental disorder and epilepsy had higher pervasive developmental disorder scores (P = .001), higher Childhood Autism Rating Scale scores (P = .016), and lower social quotient (P = .09). More than 50% of children with pervasive developmental disorder and epilepsy and 12% of children having pervasive developmental disorder without epilepsy had epileptiform abnormalities in electroencephalography (EEG). Regression of milestones was significantly associated with epilepsy and epileptiform abnormalities. Children with pervasive developmental disorder and epilepsy might have a worse developmental trajectory requiring intensive management. A behavioral phenotype of autism may coexist often in children with epilepsy, EEG abnormalities, and regression. Seizures might be difficult to control in these children despite adequate compliance. Studies with larger sample size and longitudinal follow-up will provide better understanding.
