Pubmed du 21/05/20

jeudi 21 mai 2020

1. Bai D, Marrus N, Yip BHK, Reichenberg A, Constantino JN, Sandin S. Inherited Risk for Autism Through Maternal and Paternal Lineage. Biol Psychiatry. 2020.

BACKGROUND : Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-to-female ratio that is purported to arise from the so-called female protective effect. A serious implication of a female protective effect is that familial ASD liability would be expected to aggregate asymptomatically in sisters of affected probands, who would incur elevated rates of ASD among their offspring. Currently, there exist no data on second-generation recurrence rates among families affected by ASD. METHODS : We analyzed data from the Swedish National Patient Register and the Multi-Generation Register for a cohort of children born between 2003 and 2012. ASD was ascertained in both the child and parental generations. RESULTS : Among 847,732 children, 13,103 (1.55%) children in the cohort were diagnosed with ASD. Among their maternal/paternal aunts and uncles, 1744 (0.24%) and 1374 (0.18%) were diagnosed with ASD, respectively. Offspring of mothers with a sibling(s) diagnosed with ASD had higher rates of ASD than the general population (relative risk, 3.05 ; 95% confidence interval, 2.52-3.64), but not more than would be predicted for second-degree relatives within a generation, and only slightly more than was observed for fathers with siblings with ASD (relative risk, 2.08 ; 95% confidence interval, 1.53-2.67). Models adjusting for temporal trends and for psychiatric history in the parental generation did not alter the results. CONCLUSIONS : These findings establish a robust general estimate of ASD transmission risk for siblings of individuals affected by ASD, the first ever reported. Our findings do not suggest female protective factors as the principal mechanism underlying the male sex bias in ASD.

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2. Beck JS, Lundwall RA, Gabrielsen T, Cox JC, South M. Looking good but feeling bad : "Camouflaging" behaviors and mental health in women with autistic traits. Autism. 2020 ; 24(4) : 809-21.

Women who try to hide or "camouflage" their autistic traits are likely to report that they feel distressed, think of suicide, and/or struggle to function in everyday life. We asked 58 women with autistic traits to complete questionnaires about camouflaging and mental health. Most of these women did not have a formal diagnosis of autism, yet a majority reported that they camouflaged autistic traits, and a large majority reported significant mental health challenges. Some researchers have suggested that women with autistic traits are more likely than autistic men to experience mental health challenges because women may try more to "fit in" socially by camouflaging their autistic traits. Analyses showed that camouflaging was associated with feeling distressed (depressed, anxious, and/or stressed). For women who reported above-average levels of camouflaging, camouflaging was also associated with having thoughts about suicide and struggling to function in everyday life. Trying to camouflage autistic traits was associated with mental health challenges, regardless of whether those traits were very mild or more severe. The findings of this study may influence how mental health professionals evaluate and treat women with autistic traits.

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3. Benevides TW, Shore SM, Palmer K, Duncan P, Plank A, Andresen ML, Caplan R, Cook B, Gassner D, Hector BL, Morgan L, Nebeker L, Purkis Y, Rankowski B, Wittig K, Coughlin SS. Listening to the autistic voice : Mental health priorities to guide research and practice in autism from a stakeholder-driven project. Autism. 2020 ; 24(4) : 822-33.

Autistic adults commonly experience mental health conditions. However, research rarely involves autistic adults in deciding priorities for research on mental healthcare approaches that might work for them. The purpose of this article is to describe a stakeholder-driven project that involved autistic adults in co-leading and designing research about priorities to address mental health needs. Through a large online survey, two large meetings, and three face-to-face focus group discussions involving over 350 stakeholders, we identified five priorities for mental health research desired by autistic adults. These priorities and preferred outcomes should be used to guide research and practice for autistic adults.

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4. Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, A JR, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, ML SFS, RL RdS, Fernandez-Vizarra E, A JW, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. Journal of medical genetics. 2020.

BACKGROUND : Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known as the ’mitoskeleton’ due to its role in maintaining IMM architecture. APOO encodes MIC26, a component of MICOS, whose exact function in its maintenance or assembly has still not been completely elucidated. METHODS : We have studied a family in which the most affected subject presented progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal and body temperature dysautonomia, repetitive infections, cognitive impairment and autistic behaviour. Other family members showed variable phenotype presentation. Whole exome sequencing was used to screen for pathological variants. Patient-derived skin fibroblasts were used to confirm the pathogenicity of the variant found in APOO. Knockout models in Drosophila melanogaster and Saccharomyces cerevisiae were employed to validate MIC26 involvement in MICOS assembly and mitochondrial function. RESULTS : A likely pathogenic c.350T>C transition was found in APOO predicting an I117T substitution in MIC26. The mutation caused impaired processing of the protein during import and faulty insertion into the IMM. This was associated with altered MICOS assembly and cristae junction disruption. The corresponding mutation in MIC26 or complete loss was associated with mitochondrial structural and functional deficiencies in yeast and D. melanogaster models. CONCLUSION : This is the first case of pathogenic mutation in APOO, causing altered MICOS assembly and neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast and flies.

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5. Bent CA, Barbaro J, Dissanayake C. Parents’ experiences of the service pathway to an autism diagnosis for their child : What predicts an early diagnosis in Australia ?. Res Dev Disabil. 2020 ; 103 : 103689.

BACKGROUND : The early identification and diagnosis of autism is critical to ensure access to appropriate early intervention and support. Few studies have examined the association between potentially modifiable characteristics of the service system and timelier diagnosis. METHODS : An online survey was conducted to examine parental experiences of service pathways to an autism diagnosis for their child, and to identify child, family, and service level characteristics that predict the age and timeliness of diagnosis. Participants included 107 parents of children with autism who were diagnosed by 7 years of age and a smaller subgroup of 29 parents who were diagnosed after 7 years of age. RESULTS : Parents of younger children reported that, on average, it took approximately 12 months and 8 professional consultations to receive a confirmed diagnosis for their child. Parents of older children, as well as those who reported they were a sole caregiver, or were advised by professionals to ’wait and see’, reported more time between first raising concerns and diagnosis. CONCLUSIONS : The findings reiterate the importance of proactive professional responses to parental concerns. They also highlight the need for standardised screening and assessment and professional development and training to build capacity in the sector to deliver timely and accurate autism diagnoses.

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6. Crasta JE, Salzinger E, Lin MH, Gavin WJ, Davies PL. Sensory Processing and Attention Profiles Among Children With Sensory Processing Disorders and Autism Spectrum Disorders. Frontiers in integrative neuroscience. 2020 ; 14 : 22.

This study explores the differences in the profile of relationships between sensory processing and attention abilities among children with sensory processing disorder (SPD), autism spectrum disorder (ASD), and typically developing (TD) children. The Test of Everyday Attention for Children (TEA-Ch), a performance-based measure of attention, was administered to 69 children (TD : n = 24 ; SPD : n = 21 ; ASD : n = 24), ages 6-10 years. All participants’ parents completed the Short Sensory Profile (SSP), a standardized parent-report measure of sensory-related behaviors. Discriminant analyses using the TEA-Ch and the SSP domains revealed two classification functions ; the first revealed that both clinical groups significantly differed from the TD group with greater sensory processing challenges in the categories of auditory filtering, under-responsive/seeks sensation, low energy/weak, and taste/smell sensitivity subscales of the SSP. The second function discriminated between the two clinical groups, indicating that children with ASD had significantly greater control and sustained attention deficits and less sensory issues than did children with SPD. Together, the two functions correctly classified 76.8% of the participants as to their group membership. The different profiles of sensory processing and attention abilities in children with SPD and ASD may provide guidance in identifying appropriate individualized therapeutic strategies for these children.

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7. Crompton CJ, Ropar D, Evans-Williams CV, Flynn EG, Fletcher-Watson S. Autistic peer-to-peer information transfer is highly effective. Autism. 2020 : 1362361320919286.

Sharing information with other people relies on the ability to communicate well. Autism is defined clinically by deficits in social communication. It may therefore be expected that autistic people find it difficult to share information with other people. We wanted to find out whether this was the case, and whether it was different when autistic people were sharing information with other autistic people or with non-autistic people. We recruited nine groups, each with eight people. In three of the groups, everyone was autistic ; in three of the groups, everyone was non-autistic ; and three of the groups were mixed groups where half the group was autistic and half the group was non-autistic. We told one person in each group a story and asked them to share it with another person, and for that person to share it again and so on, until everyone in the group had heard the story. We then looked at how many details of the story had been shared at each stage. We found that autistic people share information with other autistic people as well as non-autistic people do with other non-autistic people. However, when there are mixed groups of autistic and non-autistic people, much less information is shared. Participants were also asked how they felt they had got on with the other person in the interaction. The people in the mixed groups also experienced lower rapport with the person they were sharing the story with. This finding is important as it shows that autistic people have the skills to share information well with one another and experience good rapport, and that there are selective problems when autistic and non-autistic people are interacting.

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8. De Simone R, Butera A, Armida M, Pezzola A, Boirivant M, Potenza RL, Ricceri L. Beneficial Effects of Fingolimod on Social Interaction, CNS and Peripheral Immune Response in the BTBR Mouse Model of Autism. Neuroscience. 2020 ; 435 : 22-32.

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by social communication deficits and repetitive/stereotyped behaviours. We evaluated the effects of a chronic treatment with the immunomodulator drug Fingolimod (FTY720 - a non-selective Sphingosine 1-Phosphate Receptor ligand) in an ASD model, the BTBR T(+)tf/J (BTBR) mouse strain. In adult BTBR males, chronic FTY720 treatment (4 weeks) increased social and vocal response during a male-female interaction and hippocampal expression of BDNF and Neuregulin 1, two trophic factors reduced in BTBR when compared to control C57 mice. FTY720 also re-established the expression of IL-1β and MnSOD in the hippocampus, whereas it did not modify IL-6 mRNA content. In addition to its central effect, FTY720 modulated the activation state of peripheral macrophages in the BTBR model, both in basal conditions and after stimulation with an immune challenge. Furthermore, IL-6 mRNA colonic content of BTBR mice, reduced when compared with C57 mice, was normalized by chronic treatment with FTY720. Our study, while indicating FTY720 as a tool to attenuate relevant alterations of the BTBR neurobehavioural phenotype, emphasizes the importance of gut mucosal immune evaluation as an additional target that deserve to be investigated in preclinical studies of anti-inflammatory therapeutic approaches in ASD.

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9. Hu Q, Chandrasekhar T. Meeting the Mental Health Needs of College Students with ASD : A Survey of University and College Counseling Center Directors. J Autism Dev Disord. 2020.

An increasing number of individuals with Autism Spectrum Disorder (ASD) are enrolling in post-secondary education. Though many students may use services provided by university and college counseling centers (UCCCs), little is known about the landscape of care for students with ASD in this setting. UCCC directors (n = 79) completed an online survey to assess current utilization, clinician experience with ASD, and campus collaborations. While the majority of directors (69.7%) reported an increase in students with ASD requesting mental health services at their centers, the survey identified a discrepancy between their intention to improve services and current reported levels of expertise, training, and resources. Directors identified barriers to improving UCCC services to students with ASD, providing direction for future improvement.

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10. Kilmer M. Primary care of children with autism spectrum disorder : Applying evidence-based interventions. The Nurse practitioner. 2020 ; 45(6) : 33-41.

Pediatric autism spectrum disorder (ASD) consists of multisystem components that primary care providers (PCPs) must address. PCPs improve health outcomes associated with ASD when they administer developmental screening tools and thoroughly assess identified concerns. Pursuing specialty health services early in childhood combined with managing comorbid conditions curtails symptom escalation and disease progression.

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11. Lord C, McCauley JB, Pepa LA, Huerta M, Pickles A. Work, living, and the pursuit of happiness : Vocational and psychosocial outcomes for young adults with autism. Autism. 2020 : 1362361320919246.

It is important to better understand how adults with autism are functioning in adulthood. Studies that have tracked individuals across the lifespan can help identify developmental factors influence differences in adult outcomes. The present study examines the independence, well-being, and functioning of 123 adults that have been closely followed since early childhood. Autism diagnosis and cognitive assessments were given frequently throughout childhood and during adulthood. We examined differences between adults who had received an autism diagnosis at some point with higher cognitive abilities (Ever ASD-High IQ) and lower cognitive abilities (Ever ASD-Low IQ), as well as adults who never received a diagnosis of autism in the course of the study (Never ASD). We found that autistic features specifically related to adaptive skills and friendships, and verbal intelligence related to work outcomes. In many ways, the Never ASD group had similar outcomes compared to the ASD groups. However, adults with ASD tended to have lower well-being and fewer positive emotions. Families played a major role in supporting adults with and without ASD at all intellectual levels. The findings suggest that realistic ways of increasing independence need to be developed by working with adults and their families, while acknowledging the contribution of individual differences in mental health, intelligence and autism symptoms across neurodevelopmental disorders.

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12. Marini A, Ozbič M, Magni R, Valeri G. Toward a Definition of the Linguistic Profile of Children With Autism Spectrum Disorder. Front Psychol. 2020 ; 11 : 808.

The current investigation assessed linguistic and narrative abilities in a cohort of children with Autism Spectrum Disorder (ASD). The linguistic assessment was performed with both traditional tests and a multilevel procedure for discourse analysis. The results showed difficulties at different stages of message planning, organization, and microlinguistic processing (i.e., lexical selection and grammatical processing). Their macrolinguistic impairments were likely related to more general difficulties in the prelinguistic conceptual phase of message planning and mental model generation. Such weaknesses included a difficulty in the non-verbal conceptualization of the story and the generation of an internal representation of the addressee’s mental model.

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13. Matyjek M, Bayer M, Dziobek I. Autistic Traits Affect Reward Anticipation but not Reception. Sci Rep. 2020 ; 10(1) : 8396.

Autism spectrum conditions (ASC) have been linked to aberrant reward processing, but it remains unclear whether it is a general dysfunction or limited to social stimuli, and whether it affects both phases of reward processing, namely anticipation and reception. We used event-related brain potentials and a population-based approach to investigate reward anticipation and reception to socially relevant (i.e., picture of experimenter’s face showing approval/disapproval) and monetary rewards in 51 neurotypical individuals with varying levels of autistic traits. Higher autistic traits were associated with enhanced reward anticipation across reward types in the early anticipation phase (triggered by incentive cues), but not in the late anticipation phase (directly before reward reception), as reflected by the CNV component. The P3 component in response to reward reception showed a general increase for monetary outcomes, which was not modulated by autistic traits. These results suggest that higher autistic traits are related to enhanced reward anticipation, but do not modulate reward reception. No interaction between reward types and autistic traits was observed. We propose that the relevance of social rewards had higher reward value than commonly used pictures of strangers, which specifically normalised responses for individuals with high autistic traits.

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14. Pellecchia M, Beidas RS, Lawson G, Williams NJ, Seidman M, Kimberly JR, Cannuscio CC, Mandell DS. Does implementing a new intervention disrupt use of existing evidence-based autism interventions ?. Autism. 2020 : 1362361320919248.

Interventions for children with autism spectrum disorder are complex and often are not implemented successfully within schools. When new practices are introduced in schools, they often are layered on top of existing practices, with little attention paid to how introducing new practices affects the use of existing practices. This study evaluated how introducing a computer-assisted intervention, called TeachTown:Basics, affected the use of other evidence-based practices in autism support classrooms. We compared how often teachers reported using a set of evidence-based practices in classrooms that either had access to TeachTown:Basics or did not have the program. We found that teachers who had access to the computer-assisted intervention reported using the other evidence-based practices less often as the school year progressed. Teachers also reported that they liked the computer-assisted intervention, found it easy to use, and that it helped overcome challenges to implementing other evidence-based practices. This is important because the computer-assisted intervention did not improve child outcomes in a previous study and indicates that teachers may use interventions that are appealing and easier to implement, even when they do not have evidence to support their effectiveness. These findings support the idea of interventions’ complexity and how well the intervention fits within the classroom affect how teachers use it and highlight the need to develop school-based interventions that both appeal to the practitioner and improve child outcomes.

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15. Ressel M, Thompson B, Poulin MH, Normand CL, Fisher MH, Couture G, Iarocci G. Systematic review of risk and protective factors associated with substance use and abuse in individuals with autism spectrum disorders. Autism. 2020 ; 24(4) : 899-918.

Symptoms characteristic of autism spectrum disorder were initially believed to protect individuals with autism spectrum disorder from developing substance abuse. However, recent studies suggest that up to 36% of individuals with autism spectrum disorder may have a co-occurring issue with substance abuse. In addition, substance abuse may worsen the difficulties with daily functioning some individuals with autism spectrum disorder experience. It is important to understand occurrence rates, and risk, protective and positive treatment factors of co-occurring autism spectrum disorder and substance abuse in order to promote the best possible support for this special population. This review aimed to find and synthesize evidence regarding risk, protective and treatment factors, and determine a general prevalence rate of co-occurring autism spectrum disorder and substance abuse from all studies on substance use and abuse in individuals with autism spectrum disorder. The review also aimed to assess study quality and identify a diagnostic measure for substance abuse in individuals with autism spectrum disorder. Twenty-six studies on substance use and abuse in autism spectrum disorder were included in the review. The rates of substance abuse among those with autism spectrum disorder identified by included studies ranged from 1.3% to 36%, but due to large differences in study methods, a general prevalence rate could not be determined. Risk and protective factors, recognized in the general population, such as familial substance abuse and co-occurring mental health issues, and factors which may be more likely to occur in individuals with autism spectrum disorder, such as limited social resources and low sensation-seeking, were identified. No diagnostic measures specific to individuals with autism spectrum disorder and substance abuse were identified. This review identified only one exploratory study on an adapted intervention for co-occurring autism spectrum disorder and substance abuse. However, there were many methodological challenges in this study that limit the conclusions that can be drawn from the data. More research, using consistent methods, is needed to understand risk and protective factors and to determine the prevalence of substance abuse among individuals with autism spectrum disorder. The potential for co-occurring autism spectrum disorder and substance abuse should be considered by professional working in both autism spectrum disorder and substance abuse services, as finding suggests substance abuse is possible among individuals with autism spectrum disorder and may occur more frequently than previously believed. In addition, autism spectrum disorder and substance abuse service providers should be sensitive to specific risk and protective factors identified by the review that may impact substance abuse course and outcomes.

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16. Vabalas A, Gowen E, Poliakoff E, Casson AJ. Applying Machine Learning to Kinematic and Eye Movement Features of a Movement Imitation Task to Predict Autism Diagnosis. Sci Rep. 2020 ; 10(1) : 8346.

Autism is a developmental condition currently identified by experts using observation, interview, and questionnaire techniques and primarily assessing social and communication deficits. Motor function and movement imitation are also altered in autism and can be measured more objectively. In this study, motion and eye tracking data from a movement imitation task were combined with supervised machine learning methods to classify 22 autistic and 22 non-autistic adults. The focus was on a reliable machine learning application. We have used nested validation to develop models and further tested the models with an independent data sample. Feature selection was aimed at selection stability to assure result interpretability. Our models predicted diagnosis with 73% accuracy from kinematic features, 70% accuracy from eye movement features and 78% accuracy from combined features. We further explored features which were most important for predictions to better understand movement imitation differences in autism. Consistent with the behavioural results, most discriminative features were from the experimental condition in which non-autistic individuals tended to successfully imitate unusual movement kinematics while autistic individuals tended to fail. Machine learning results show promise that future work could aid in the diagnosis process by providing quantitative tests to supplement current qualitative ones.

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17. Wilson CS, Anthony L, Kenworthy L, Fleischman R, Demro C, Andorko N, Chelsea Armour A, Schiffman J. Feasibility of psychosis risk assessment for adolescents diagnosed with autism. Autism. 2020 ; 24(4) : 834-50.

Individuals with autism may experience a variety of psychiatric symptoms that may cause distress and difficulty functioning. The tools that exist to help evaluate symptoms for psychosis for individuals with autism are limited. We investigated whether a specialized interview for symptoms of psychosis risk could be used for adolescents with autism. We recruited 21 adolescents with autism and 22 typically developing adolescents and interviewed them using the Structured Interview for Psychosis-Risk Syndromes. Participants were asked to rephrase interview questions as a way to understand how they interpreted the question. Their responses were evaluated by clinicians and third-party raters to determine potential response errors. Results of the study showed that youth with autism who have intact language skills are able to answer questions about psychosis risk symptoms as well as their typically developing peers. In general, adolescents across both groups who had more difficulty with nonliteral language (understanding words with multiple meanings) had more difficulty completing the Structured Interview for Psychosis-Risk Syndromes. Problematic items that required more clarification by the clinician involved misinterpretation of words/phrases or questions. Care should be taken to ensure adolescents understand the intent of interviewer questions when assessing risk of psychosis.

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