1. Hatfield M, Falkmer M, Falkmer T, Ciccarelli M. {{Process Evaluation of the BOOST-A Transition Planning Program for Adolescents on the Autism Spectrum: A Strengths-Based Approach}}. {J Autism Dev Disord}. 2017.
A process evaluation was conducted to determine the effectiveness, usability, and barriers and facilitators related to the Better OutcOmes & Successful Transitions for Autism (BOOST-A), an online transition planning program. Adolescents on the autism spectrum (n = 33) and their parents (n = 39) provided feedback via an online questionnaire. Of these, 13 participants were interviewed to gain in-depth information about their experiences. Data were analyzed using descriptive statistics and thematic analysis. Four themes were identified: (i) taking action to overcome inertia, (ii) new insights that led to clear plans for the future, (iii) adolescent empowerment through strengths focus, and (iv) having a champion to guide the way. The process evaluation revealed why BOOST-A was beneficial to some participants more than others. Trial registration #ACTRN12615000119594.
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2. Mitjans M, Begemann M, Ju A, Dere E, Wustefeld L, Hofer S, Hassouna I, Balkenhol J, Oliveira B, van der Auwera S, Tammer R, Hammerschmidt K, Volzke H, Homuth G, Cecconi F, Chowdhury K, Grabe H, Frahm J, Boretius S, Dandekar T, Ehrenreich H. {{Sexual dimorphism of AMBRA1-related autistic features in human and mouse}}. {Transl Psychiatry}. 2017; 7(10): e1247.
Ambra1 is linked to autophagy and neurodevelopment. Heterozygous Ambra1 deficiency induces autism-like behavior in a sexually dimorphic manner. Extraordinarily, autistic features are seen in female mice only, combined with stronger Ambra1 protein reduction in brain compared to males. However, significance of AMBRA1 for autistic phenotypes in humans and, apart from behavior, for other autism-typical features, namely early brain enlargement or increased seizure propensity, has remained unexplored. Here we show in two independent human samples that a single normal AMBRA1 genotype, the intronic SNP rs3802890-AA, is associated with autistic features in women, who also display lower AMBRA1 mRNA expression in peripheral blood mononuclear cells relative to female GG carriers. Located within a non-coding RNA, likely relevant for mRNA and protein interaction, rs3802890 (A versus G allele) may affect its stability through modification of folding, as predicted by in silico analysis. Searching for further autism-relevant characteristics in Ambra1+/- mice, we observe reduced interest of female but not male mutants regarding pheromone signals of the respective other gender in the social intellicage set-up. Moreover, altered pentylentetrazol-induced seizure propensity, an in vivo readout of neuronal excitation-inhibition dysbalance, becomes obvious exclusively in female mutants. Magnetic resonance imaging reveals mild prepubertal brain enlargement in both genders, uncoupling enhanced brain dimensions from the primarily female expression of all other autistic phenotypes investigated here. These data support a role of AMBRA1/Ambra1 partial loss-of-function genotypes for female autistic traits. Moreover, they suggest Ambra1 heterozygous mice as a novel multifaceted and construct-valid genetic mouse model for female autism.
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3. Niemczyk J, Wagner C, von Gontard A. {{Incontinence in autism spectrum disorder: a systematic review}}. {Eur Child Adolesc Psychiatry}. 2017.
Autism spectrum disorders (ASD) are defined by persistent deficits in reciprocal social interaction, communication, and language, as well as stereotyped and repetitive behavior. Functional incontinence, as well as ASD are common disorders in childhood. The aim of this systematic review was to give an overview of the co-occurrence of nocturnal enuresis (NE), daytime urinary incontinence (DUI), and fecal incontinence (FI) in ASD, and vice versa, of ASD in children with incontinence. A systematic literature search of the terms « incontinence », « enuresis », and « encopresis » in combination with « autism » or « Asperger » in four databases (Scopus, PubMed, PsycInfo and Web of science) was conducted. All studies that examined incontinence frequencies in samples with ASD, and studies that measured frequencies of ASD diagnoses or symptoms in samples with incontinence were included. Risk of bias and limitations of each study were described. After eligibility assessment, 33 publications were included in the review. The published literature implies a higher prevalence of incontinence in children with ASD compared to typically developing children. Limitations and biases as inappropriate diagnostic criteria for ASD and incontinence, selected samples, or lack of control groups are reported. Associations of incontinence in ASD with psychopathological symptoms were found. Vice versa, ASD symptoms are found in incontinent children, but no study included a non-ASD control sample. Incontinence symptoms are also reported as an adverse effect of medication in ASD. Due to methodological problems and definitional discrepancies in some publications, results have to be interpreted cautiously. Research in ASD and incontinence is scarce. More systematic research including state-of-the-art assessments is needed.
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4. Patel S, Masi A, Dale RC, Whitehouse AJO, Pokorski I, Alvares GA, Hickie IB, Breen E, Guastella AJ. {{Social impairments in autism spectrum disorder are related to maternal immune history profile}}. {Mol Psychiatry}. 2017.
Maternal immune activation has been highlighted as a factor that might increase the risk and severity of autism spectrum disorder (ASD) in children. Preclinical animal evidence shows that immune activation in mothers during pregnancy causes ASD-like behavioural traits in offspring. To this point, there has been no investigation of whether immune system activation in human mothers during pregnancy is associated with more severe symptoms in children with ASD. In this study, data from an existing ASD cohort (N=220) were analysed to investigate whether immune conditions in the mother were associated with greater severity of autism-related symptoms. Results showed that children whose mothers reported a history of immune activation (allergies and asthma) had significantly higher scores on the Social Responsiveness Scale (SRS; P=0.016), suggesting more severe social impairment symptoms in these children. This increasing severity of social impairment symptoms was further shown on the SRS cognition (P=0.007) and mannerisms (P=0.002) subscales. While immune history was associated with an increase in the severity of social impairment symptoms, history of autoimmune conditions in the mother did not have any effect in this cohort. To the best of our knowledge, this study is the first to show an association between immune activation history in the mother and increased ASD symptom severity in children with ASD. These findings support the idea of an immune system-mediated subtype in ASD, where the immune history of the mother may be an important factor.Molecular Psychiatry advance online publication, 10 October 2017; doi:10.1038/mp.2017.201.
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5. Schelly D, Jimenez Gonzalez P, Solis PJ. {{Parental Action and Referral Patterns in Spatial Clusters of Childhood Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Sociodemographic factors have long been associated with disparities in autism spectrum disorder (ASD) diagnosis. Studies that identified spatial clustering of cases have suggested the importance of information about ASD moving through social networks of parents. Yet there is no direct evidence of this mechanism. This study explores the help-seeking behaviors and referral pathways of parents of diagnosed children in Costa Rica, one of two countries in which spatial clusters of cases have been identified. We interviewed the parents of 54 diagnosed children and focused on social network connections that influenced parents’ help seeking and referral pathways that led to assessment. Spatial clusters of cases appear to be a result of seeking private rather than public care, and private clinics are more likely to refer cases to the diagnosing hospital. The referring clinic rather than information spread appears to explain the disparities.
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6. Zane E, Neumeyer K, Mertens J, Chugg A, Grossman RB. {{I Think We’re Alone Now: Solitary Social Behaviors in Adolescents with Autism Spectrum Disorder}}. {J Abnorm Child Psychol}. 2017.
Research into emotional responsiveness in Autism Spectrum Disorder (ASD) has yielded mixed findings. Some studies report uniform, flat and emotionless expressions in ASD; others describe highly variable expressions that are as or even more intense than those of typically developing (TD) individuals. Variability in findings is likely due to differences in study design: some studies have examined posed (i.e., not spontaneous expressions) and others have examined spontaneous expressions in social contexts, during which individuals with ASD-by nature of the disorder-are likely to behave differently than their TD peers. To determine whether (and how) spontaneous facial expressions and other emotional responses are different from TD individuals, we video-recorded the spontaneous responses of children and adolescents with and without ASD (between the ages of 10 and 17 years) as they watched emotionally evocative videos in a non-social context. Researchers coded facial expressions for intensity, and noted the presence of laughter and other responsive vocalizations. Adolescents with ASD displayed more intense, frequent and varied spontaneous facial expressions than their TD peers. They also produced significantly more emotional vocalizations, including laughter. Individuals with ASD may display their emotions more frequently and more intensely than TD individuals when they are unencumbered by social pressure. Differences in the interpretation of the social setting and/or understanding of emotional display rules may also contribute to differences in emotional behaviors between groups.
