1. Carlsson E, Miniscalco C, Gillberg C, Asberg Johnels J. {{Assessing False-Belief Understanding in Children with Autism Using a Computer Application: A Pilot Study}}. {Journal of psycholinguistic research}. 2018.
We have developed a False-Belief (FB) understanding task for use on a computer tablet, trying to assess FB understanding in a less social way. It is based on classical FB protocols, and additionally includes a manipulation of language in an attempt to explore the facilitating effect of linguistic support during FB processing. Specifically, the FB task was presented in three auditory conditions: narrative, silent, and interference. The task was assumed to shed new light on the FB difficulties often observed in Autism Spectrum Disorder (ASD). Sixty-eight children with ASD (M = 7.5 years) and an age matched comparison group with 98 typically developing (TD) children were assessed with the FB task. The children with ASD did not perform above chance level in any condition, and significant differences in success rates were found between the groups in two conditions (silent and narrative), with TD children performing better. We discuss implications, limitations, and further developments.
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2. Hens K, Noens I, Peeters H, Steyaert J. {{The ethics of patenting autism genes}}. {Nature reviews Genetics}. 2018.
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3. Kouklari EC, Tsermentseli S, Monks CP. {{Developmental trends of hot and cool executive function in school-aged children with and without autism spectrum disorder: Links with theory of mind}}. {Development and psychopathology}. 2018: 1-16.
The development of executive function (EF) in autism spectrum disorder (ASD) has been investigated using only « cool »-cognitive EF tasks while there is limited knowledge regarding the development of « hot »-affective EF. Although cool EF development and its links to theory of mind (ToM) have been widely examined, understanding of the influence of hot EF to ToM mechanisms is minimal. The present study introduced a longitudinal design to examine the developmental changes in cool and hot EF of children with ASD (n = 45) and matched (to age and IQ) controls (n = 37) as well as the impact of EF on ToM development over a school year. For children with ASD, although selective cool (working memory and inhibition) and hot (affective decision making) EF domains presented age-related improvements, they never reached the performance level of the control group. Early cool working memory predicted later ToM in both groups but early hot delay discounting predicted later ToM only in the ASD group. No evidence was found for the reverse pattern (early ToM predicting later EF). These findings suggest that improvements in some EF aspects are evident in school age in ASD and highlight the crucial role that both cool and hot EF play in ToM development.
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4. Lemay JF, Lanzinger S, Pacaud D, Plener PL, Furst-Burger A, Biester T, Hilgard D, Lilienthal E, Galler A, Berger G, Holl RW. {{Metabolic Control of Type 1 Diabetes in Youth with Autism Spectrum Disorder: a Multicenter DPV analysis based on 61,749 patients up to 20 years of age}}. {Pediatric diabetes}. 2018.
A paucity of reports in the literature exists concerning the co-existence between Autism Spectrum Disorder (ASD) and type 1 diabetes (T1D). OBJECTIVE: To compare clinical characteristics, diabetes management and metabolic control in youth with T1D and ASD (T1D-ASD) with youth without ASD (T1D-non ASD). PATIENTS AND METHODS: Using the German/Austrian diabetes patient follow-up registry (DPV), this study analyzed aggregated data from the last available year of observation for each patient with T1D, ages 1-20 with consistent data on insulin regimen and glycated hemoglobin (A1C), between January 2005-March 2017. RESULTS: From 61,749 patients, 150 (0.24%) were identified as T1D-ASD. Non-adjusted comparisons showed similar results for mean age at onset and duration of diabetes, but not for gender (male: T1D-ASD: 85.3%; T1D-non ASD: 52.8%; p<0.001). Unadjusted comparisons showed no difference for severe hypoglycemia, diabetic ketoacidosis, insulin doses, insulin pump therapy, and body mass index. A statistical difference was observed for A1C (p-value 0.01) and in the number of blood glucose (SMBG) tests/day (median [interquartile range]: T1D-ASD 6.0 [4.4-7.0]; T1D-non ASD 5.0 [4.4-7.0]; p-value<0.001). After adjusting for age, gender, duration of diabetes, and year of observation, only SMBG remained significant (p-value 0.003). T1D-ASD used psycho-stimulants (15.3% vs. 2.2%; p-value<0.001), anti-psychotics (10.7% vs. 0.6%; p-value<0.001), and anti-depressive medications (3.6% vs. 0.7%; p-value<0.001) more frequently. CONCLUSION: Metabolic control was similar in the T1D-ASD group compared to T1D-non ASD despite their comorbidity. Awareness of ASD remains important in T1D treatment, as both conditions require long-term multi-disciplinary medical follow-up for optimal outcomes. Lien vers le texte intégral (Open Access ou abonnement)
5. Lin MA, Cannon SC, Papazian DM. {{Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K(+) channel, was identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4.2 channels undergo closed-state inactivation (CSI), a mechanism by which channels inactivate without opening during subthreshold depolarizations. CSI dynamically modulates neuronal excitability and action potential back propagation in response to excitatory synaptic input, controlling Ca(2+) influx into dendrites and regulating spike timing-dependent plasticity. Here, we show that the V404M mutation specifically affects the mechanism of CSI, enhancing the inactivation of channels that have not opened while dramatically impairing the inactivation of channels that have opened. The mutation gives rise to these opposing effects by increasing the stability of the inactivated state and in parallel, profoundly slowing the closure of open channels, which according to our data, is required for CSI. The larger volume of methionine compared with valine is a major factor underlying altered inactivation gating. Our results suggest that V404M increases the strength of the physical interaction between the pore gate and the voltage sensor regardless of whether the gate is open or closed. Furthermore, in contrast to previous proposals, our data strongly suggest that physical coupling between the voltage sensor and the pore gate is maintained in the inactivated state. The state-dependent effects of V404M on CSI are expected to disturb the regulation of neuronal excitability and the induction of spike timing-dependent plasticity. Our results strongly support a role for altered CSI gating in the etiology of epilepsy and autism in the affected twins.
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6. Livingston LA, Colvert E, Bolton P, Happe F. {{Good social skills despite poor theory of mind: exploring compensation in autism spectrum disorder}}. {J Child Psychol Psychiatry}. 2018.
BACKGROUND: It is proposed that some individuals with Autism Spectrum Disorder (ASD) can ‘compensate’ for their underlying difficulties (e.g. in theory of mind; ToM), thus demonstrating relatively few behavioural symptoms, despite continued core cognitive deficits. The mechanisms underpinning compensation are largely unexplored, as is its potential impact on mental health. This study aimed to estimate compensation patterns in ASD, by contrasting overt social behaviour with ToM task performance, in order to compare the characteristics of ‘Low’ and ‘High’ Compensators. METHODS: A total of 136 autistic adolescents, from the ongoing Social Relationships Study, completed a range of cognitive tasks, the Autistic Diagnostic Observation Schedule (ADOS) and a self-report anxiety questionnaire. Participants were assigned compensation group status; High Compensators demonstrated good ADOS scores despite poor ToM performance, while Low Compensators demonstrated similarly poor ToM, accompanied by poor ADOS scores. RESULTS: High Compensators demonstrated better IQ and executive function (EF), but greater self-reported anxiety, compared with Low Compensators. Such differences were not found when comparing individuals who had good versus poor ADOS scores, when ToM performance was good. Other core autistic characteristics (weak central coherence, nonsocial symptoms) did not differentiate the High and Low Compensators. CONCLUSIONS: IQ, EF and anxiety appear to be implicated in the processes by which certain autistic young people can compensate for their underlying ToM difficulties. This tendency to compensate does not appear to reflect the severity of ‘hit’ for ASD per se, suggesting that well-compensated individuals are not experiencing a milder form of ASD. The construct of compensation in ASD has implications for research and clinical practice.
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7. Thompson C, Bolte S, Falkmer T, Girdler S. {{To be understood: Transitioning to adult life for people with Autism Spectrum Disorder}}. {PLoS One}. 2018; 13(3): e0194758.
INTRODUCTION: The purpose of this study was to explore the viewpoints of parents of young people with Autism Spectrum Disorder (ASD) in relation to their child’s transition to adulthood. METHODS: Data were collected during four structured focus groups with 19 parents of young people with ASD with average to high intellectual capacities. Condensed meaning units were identified and checked during focus groups, and were subsequently linked to the International Classification of Functioning, Disability and Health (ICF). RESULTS: Three major themes emerged: to be understood, to understand the world and to succeed. The ICF domains of activity and participation and environmental factors emerged as having the greatest potential to influence transition outcomes. CONCLUSIONS: Policies and services should focus on strengths to maximise participation in higher education, employment and independent living amongst young people with ASD. Interventions targeting environmental factors could be effective in improving participation in adult life. Person-centred and individualised approaches could further complement this approach supporting the transition to adulthood for people with ASD, ultimately improving outcomes in adulthood.
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8. Zerbo O, Modaressi S, Goddard K, Lewis E, Fireman BH, Daley MF, Irving SA, Jackson LA, Donahue JG, Qian L, Getahun D, DeStefano F, McNeil MM, Klein NP. {{Vaccination Patterns in Children After Autism Spectrum Disorder Diagnosis and in Their Younger Siblings}}. {JAMA Pediatr}. 2018.
Importance: In recent years, rates of vaccination have been declining. Whether this phenomenon disproportionately affects children with autism spectrum disorder (ASD) or their younger siblings is unknown. Objectives: To investigate if children after receiving an ASD diagnosis obtain their remaining scheduled vaccines according to the Advisory Committee on Immunization Practices (ACIP) recommendations and to compare the vaccination patterns of younger siblings of children with ASD with the vaccination patterns of younger siblings of children without ASD. Design, Setting, and Participants: This investigation was a retrospective matched cohort study. The setting was 6 integrated health care delivery systems across the United States within the Vaccine Safety Datalink. Participants were children born between January 1, 1995, and September 30, 2010, and their younger siblings born between January 1, 1997, and September 30, 2014. The end of follow-up was September 30, 2015. Exposures: Recommended childhood vaccines between ages 1 month and 12 years. Main Outcome and Measure: The proportion of children who received all of their vaccine doses according to ACIP recommendations. Results: The study included 3729 children with ASD (676 [18.1%] female), 592907 children without ASD, and their respective younger siblings. Among children without ASD, 250193 (42.2%) were female. For vaccines recommended between ages 4 and 6 years, children with ASD were significantly less likely to be fully vaccinated compared with children without ASD (adjusted rate ratio, 0.87; 95% CI, 0.85-0.88). Within each age category, vaccination rates were significantly lower among younger siblings of children with ASD compared with younger siblings of children without ASD. The adjusted rate ratios varied from 0.86 for siblings younger than 1 year to 0.96 for those 11 to 12 years old. Parents who had a child with ASD were more likely to refuse at least 1 recommended vaccine for that child’s younger sibling and to limit the number of vaccines administered during the younger sibling’s first year of life. Conclusions and Relevance: Children with ASD and their younger siblings were undervaccinated compared with the general population. The results of this study suggest that children with ASD and their younger siblings are at increased risk of vaccine-preventable diseases.
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9. Zhou J, Liu A, He F, Jin Y, Zhou S, Xu R, Guo H, Zhou W, Wang M, Wei Q. {{High prevalence of serum folate receptor autoantibodies in children with autism spectrum disorders}}. {Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals}. 2018: 1-9.
BACKGROUND: Supplementation of folic acid by pregnant mothers is thought to lower the risk of autism spectrum disorders (ASDs) in the offspring. Folic acid is taken up by cells via receptors with high affinity for folate and reduced folic acid derivatives. However, this is blocked by the presence of folate receptor autoantibodies (FRAA). Cerebral FRAA have been detected with high frequency in children with ASDs, suggesting the existence of a link between folic acid uptake and disease etiology. METHODS: We investigated the frequency of FRAA in serum samples from 40 children with ASDs and 42 gender- and age-matched children with typical development (TD). Serum FRAA concentrations were measured by enzyme-linked immunosorbent assay. RESULTS: We found a significant difference in the frequency of serum FRAA in the two study cohorts. Serum FRAA were present in 77.5% (31/40) of children with ASDs compared with 54.8% (23/42) of TD children (P = 003746, Fischer’s exact test). Thus, serum FRAA are more prevalent in children with ASDs than in TD children. CONCLUSIONS: Our data suggest that children with ASDs may have defects in folic acid absorption that play a role in the onset of ASDs.
