1. Ahmad SF, Nadeem A, Ansari MA, Bakheet SA, Al-Ayadhi LY, Attia SM. {{Downregulation in Helios transcription factor signaling is associated with immune dysfunction in blood leukocytes of autistic children}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Apr 23)
Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder in which immunological imbalance has been suggested to be a major etiological component. Helios, a transcription factor, has been studied extensively in the context of human T cell regulation in health and disease, yet the role of Helios signaling has not been examined in children with ASD. In the present study, we investigated the production of Helios in CD4(+), CD8(+), and TIM-3(+), CXCR3(+) cells in typically developing (TD) controls and children with ASD and in peripheral blood mononuclear cells (PBMCs). We assayed the production of IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Foxp3(+)Helios(+) cells, and determined Helios mRNA and protein expression levels in PBMCs, in TD controls and children with ASD. Our results revealed that children with ASD had lower numbers of CD4(+)Helios(+) CD8(+)Helios(+), TIM-3(+)Helios(+), and CXCR3(+)Helios(+) cells as compared to TD controls. Our results also showed that children with ASD had decreased IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Helios(+)Foxp3(+) production compared to that in TD controls. Moreover, our results indicated that children with ASD had lower Helios mRNA and protein expression levels compared to those in TD controls. These results suggest that the Helios transcription factor may be critical to immune alterations in children with ASD. Therefore, our results suggest that targeting Helios signaling might offer a strategy for developing ASD therapies.
Lien vers le texte intégral (Open Access ou abonnement)
2. Grossi E, Migliore L, Muratori F. {{Pregnancy risk factors related to autism: an Italian case-control study in mothers of children with autism spectrum disorders (ASD), their siblings and of typically developing children}}. {J Dev Orig Health Dis};2018 (Apr 23):1-8.
This study, carried out in two Italian Institutions, assesses the frequency of 27 potential autism risk factors related to pregnancy and peri- and postnatal periods by interviewing mothers who had children with autism, children with autism and one or two typically developing siblings, or only typically developing children. The clinical sample included three case groups: 73 children and adolescents with autism (Group A), 35 children and adolescents with autism (Group A1) having 45 siblings (Group B) and 96 typically developing children (Group C) matched for gender and age. Twenty-five out of 27 of risk factors presented a higher frequency in Group A in comparison with Group C and for nine of them a statistically significant difference was found. Twenty-one out of 27 of risk factors presented a higher frequency in Group A in comparison with Group B. A higher prevalence of environmental risk factors was observed in 11 risk factors in the Group A1 in comparison with Group B and for nine of them an odds ratio higher than 1.5 was found. For 13 factors there was a progressive increase in frequency going from Group C, B and A and a statistically higher prevalence of the mean number of stressful events per pregnancy was recorded in Group A when compared with Groups B and C. The results suggest that environmental, incidental phenomena and stressful life events can influence pregnancy outcome in predisposed subjects, pointing out a possible threshold effect in women who are predisposed to have suboptimal pregnancies.
Lien vers le texte intégral (Open Access ou abonnement)
3. Hyseni F, Blanken LME, Muetzel R, Verhulst FC, Tiemeier H, White T. {{Autistic traits and neuropsychological performance in 6- to-10-year-old children: a population-based study}}. {Child Neuropsychol};2018 (Apr 23):1-18.
Clinical studies of children with autism spectrum disorder (ASD) provide evidence for poorer neuropsychological performance within specific domains compared to age, gender, and sometimes IQ-matched controls. Since recent evidence suggests that autistic symptoms form a spectrum that extends into the general population, it was our goal to evaluate the nature of the relationship between autistic traits and neuropsychological performance across the continuum in the general population. We examined neuropsychological performance across five different domains in 1019 6-to-10-year-old children participating in a population-based study of child development. Autistic traits were assessed when the children were 6 years of age using the Social Responsiveness Scale and ASD diagnoses were obtained via medical records. Neuropsychological functioning was measured using the NEPSY-II-NL and included the domains of attention and executive function, memory and learning, sensorimotor functioning, language, and visuospatial functioning. We found that children with higher autistic traits showed significantly lower neuropsychological performance in all domains investigated and that this association remained even after excluding children with the highest autistic traits or confirmed ASD. When comparing 41 children with confirmed ASD diagnosis to typically developing controls, children with ASD showed significantly lower neuropsychological performance across all domains. Taken together, our results suggest that children with both ASD and subclinical autistic traits have lower neuropsychological performance. Thus, this may provide an understanding of why some children without an ASD diagnosis may require some additional assistance within academic settings.
Lien vers le texte intégral (Open Access ou abonnement)
4. Lassalle A, Zurcher NR, Porro CA, Benuzzi F, Hippolyte L, Lemonnier E, Johnels JA, Hadjikhani N. {{Influence of anxiety and alexithymia on brain activations associated with the perception of others’ pain in autism}}. {Soc Neurosci};2018 (Apr 23)
The circumstances under which empathy is altered in ASD remain unclear, as previous studies did not systematically find differences in brain activation between ASD and controls in empathy-eliciting paradigms, and did not always monitor whether differences were primarily due to ASD « per se », or to conditions overlapping with ASD, such as alexithymia and anxiety. Here, we collected fMRI data from 47 participants (22 ASD) viewing pictures depicting hands and feet of unknown others in painful, disgusting, or neutral situations. We computed brain activity for painful and disgusting stimuli (vs. neutral) in whole brain and in regions of interest among the brain areas typically activated during the perception of nociceptive stimuli. Group differences in brain activation disappeared when either alexithymia or anxiety – both elevated in the ASD group – were controlled for. Regression analyses indicated that the influence of symptoms was mainly shared between autistic symptomatology, alexithymia and anxiety or driven by unique contributions from alexithymia or anxiety. Our results suggest that affective empathy may be affected in ASD, but that this association is complex. The respective contribution of alexithymia and anxiety to decreased affective empathy of people with ASD may be due to the association of those psychiatric conditions with reduced motor resonance/Theory of Mind.
Lien vers le texte intégral (Open Access ou abonnement)
5. Rosen TE, Mazefsky CA, Vasa RA, Lerner MD. {{Co-occurring psychiatric conditions in autism spectrum disorder}}. {Int Rev Psychiatry};2018 (Apr 23):1-22.
Individuals with autism spectrum disorder (ASD) are at increased risk for experiencing one or more co-occurring psychiatric conditions. When present, these conditions are associated with additional impairment and distress. It is therefore crucial that clinicians and researchers adequately understand and address these challenges. However, due to symptom overlap, diagnostic overshadowing, and ambiguous symptom presentation in ASD, the assessment of co-occurring conditions in ASD is complex and challenging. Likewise, individual difference factors, such as age, intellectual functioning, and gender, may influence the presentation of co-occurring symptoms. Relatedly, a transdiagnostic framework may offer utility in assessing and treating co-occurring conditions. However, with the exception of anxiety disorders, treatment research for co-occurring psychiatric conditions in ASD is relatively limited. Therefore, the present paper aims to summarize and review available research on the most common co-occurring psychiatric disorders in ASD, with a focus on estimated population-based prevalence rates, diagnostic challenges, the influence of individual differences, and assessment guidelines. The utility of a transdiagnostic framework for conceptualizing co-occurring disorders in ASD is discussed, and the state of treatment research for co-occurring disorders is summarized. This study concludes with a summary of the extant literature, as well as recommendations for future research.
Lien vers le texte intégral (Open Access ou abonnement)
6. van Eyk CL, Corbett MA, Gardner A, van Bon BW, Broadbent JL, Harper K, MacLennan AH, Gecz J. {{Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism}}. {Transl Psychiatry};2018 (Apr 23);8(1):88.
Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines from an unselected cohort of 182 CP-affected individuals using both differential expression analysis and weighted gene co-expression network analysis (WGCNA). We also show that genes differentially expressed in CP, as well as network modules significantly correlated with CP status, are enriched for genes associated with ASD. Combining transcriptome and whole exome sequencing (WES) data for this CP cohort likely resolves an additional 5% of cases separated to the 14% we have previously reported as resolved by WES. Collectively, these results support a convergent molecular abnormality in CP and ASD.
Lien vers le texte intégral (Open Access ou abonnement)
7. Weiss JA, Thomson K, Burnham Riosa P, Albaum C, Chan V, Maughan A, Tablon P, Black K. {{A randomized waitlist-controlled trial of cognitive behavior therapy to improve emotion regulation in children with autism}}. {J Child Psychol Psychiatry};2018 (Apr 23)
BACKGROUND: Mental health problems are common among individuals with autism spectrum disorder (ASD), and difficulties with emotion regulation processes may underlie these issues. Cognitive behavior therapy (CBT) is considered an efficacious treatment for anxiety in children with ASD. Additional research is needed to examine the efficacy of a transdiagnostic treatment approach, whereby the same treatment can be applied to multiple emotional problems, beyond solely anxiety. The purpose of the present study was to examine the efficacy of a manualized and individually delivered 10-session, transdiagnostic CBT intervention, aimed at improving emotion regulation and mental health difficulties in children with ASD. METHODS: Sixty-eight children (M age = 9.75, SD = 1.27) and their parents participated in the study, randomly allocated to either a treatment immediate (n = 35) or waitlist control condition (n = 33) (ISRCTN #67079741). Parent-, child-, and clinician-reported measures of emotion regulation and mental health were administered at baseline, postintervention/postwaitlist, and at 10-week follow-up. RESULTS: Children in the treatment immediate condition demonstrated significant improvements on measures of emotion regulation (i.e., emotionality, emotion regulation abilities with social skills) and aspects of psychopathology (i.e., a composite measure of internalizing and externalizing symptoms, adaptive behaviors) compared to those in the waitlist control condition. Treatment gains were maintained at follow-up. CONCLUSIONS: This study is the first transdiagnostic CBT efficacy trial for children with ASD. Additional investigations are needed to further establish its relative efficacy compared to more traditional models of CBT for children with ASD and other neurodevelopmental conditions.
Lien vers le texte intégral (Open Access ou abonnement)
8. Welch C, Polatajko H, Rigby P, Fitch M. {{Autism inside out: lessons from the memoirs of three minimally verbal youths}}. {Disabil Rehabil};2018 (Apr 23):1-9.
BACKGROUND: To date, research exploring experiences and perspectives of people who have severe autism and are minimally verbal, has been sparse. OBJECTIVES: To build new understanding based on insider perspectives of people who have severe autism and are minimally verbal. We took interest in how these perspectives support, challenge, or augment current depictions of autism in academic literature. METHOD: Adopting a descriptive qualitative approach, three memoirs written by youths who have severe autism and are minimally verbal were examined using inductive thematic analysis. Analytic methods followed a recursive process of coding, collating, mapping, reviewing, creating clear themes, and then reporting using compelling extracts. RESULTS: Analysis generated an over-arching theme regarding the youths’ concern that the way they are perceived from the outside does not match the people they are on the inside. In explaining this mismatch, the youths identify differences in the way their brains work, as well as difficulty controlling their bodies. CONCLUSIONS: These youths emphasize concepts of embodiment and physical control as central to their experiences of autism. Findings highlight the need for research exploring insider perspective and the development of innovative methods to gain insight into the understanding and interests of people who are minimally verbal. Implications for rehabilitation The development of a communication system (hi-tech or low tech) should be a top priority for intervention when serving clients who have severe autism and are minimally verbal. When working with clients who have severe autism and are minimally verbal, clinicians should be cautious in applying and interpreting assessments of intelligence and understanding, since difficulties with verbal output and movement control can obscure results. To improve information gathering and therapeutic outcomes, clinicians and educators should use varied assessment and intervention techniques, administered across multiple sessions, and environments. Consideration should be given to difficulties with movement initiation and movement inhibition when guiding and interpreting behaviors.
