1. Achenie LEK, Scarpa A, Factor RS, Wang T, Robins DL, McCrickard DS. {{A Machine Learning Strategy for Autism Screening in Toddlers}}. {J Dev Behav Pediatr}. 2019.
OBJECTIVE: Autism spectrum disorder (ASD) screening can improve prognosis via early diagnosis and intervention, but lack of time and training can deter pediatric screening. The Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) is a widely used screener but requires follow-up questions and error-prone human scoring and interpretation. We consider an automated machine learning (ML) method for overcoming barriers to ASD screening, specifically using the feedforward neural network (fNN). METHODS: The fNN technique was applied using archival M-CHAT-R data of 14,995 toddlers (age 16-30 months, 46.51% male). The 20 M-CHAT-R items were inputs, and ASD diagnosis after follow-up and diagnostic evaluation (i.e., ASD or not ASD) was the output. The sample was divided into subgroups by race (i.e., white and black), sex (i.e., boys and girls), and maternal education (i.e., below and above 15 years of education completed) to examine subgroup differences. Each subgroup was evaluated for best-performing fNN models. RESULTS: For the total sample, best results yielded 99.72% correct classification using 18 items. Best results yielded 99.92% correct classification using 14 items for white toddlers and 99.79% correct classification using 18 items for black toddlers. In boys, best results yielded 99.64% correct classification using 18 items, whereas best results yielded 99.95% correct classification using 18 items in girls. For the case when maternal education is 15 years or less (i.e., associate degree and below), best results were 99.75% correct classification when using 16 items. Results were essentially the same when maternal education was 16 years or more (i.e., above associate degree); that is, 99.70% correct classification was obtained using 16 items. CONCLUSION: The ML method was comparable to the M-CHAT-R with follow-up items in accuracy of ASD diagnosis while using fewer items. Therefore, ML may be a beneficial tool in implementing automatic, efficient scoring that negates the need for labor-intensive follow-up and circumvents human error, providing an advantage over previous screening methods.
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2. Berg KL, Shiu CS, Feinstein RT, Acharya K, MeDrano J, Msall ME. {{Children with developmental disabilities experience higher levels of adversity}}. {Res Dev Disabil}. 2019; 89: 105-13.
OBJECTIVE: Individuals with developmental disabilities (DD) experience significant health disparities. An overlooked risk factor for health disparities in the DD population is adverse childhood experiences (ACEs). The purpose of this study was to generate population prevalence data about level of adverse experiences among children with DD in comparison to children without DD and the extent to which potential confounders may influence observed associations between adversity and child DD status. METHODS: Data from the 2011-12 National Survey of Child Health (NSCH) were analyzed to estimate prevalence of adversity among families of children with and without DD, age 3-17 years (N = 62,428; DD = 2622). Level of adversity was assessed via parent response to the Adverse Family Experiences questionnaire. Bivariate and multinomial logistic regressions were utilized to investigate the relationship between adverse family experiences (AFEs) and child DD status, adjusting for covariates. RESULTS: Child DD status was significantly and independently associated with higher probability of reporting 1-2 AFEs (RRR = 1.28, 95% CI 1.06, 1.5) and 3+ AFEs (RRR = 1.60, 95% CI 1.16, 2.21). CONCLUSION: This study documents significant disparities in adversity among children with DD using a population-based sample. These adversities potentially compromise successful transition to adulthood and overall health outcomes.
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3. Bowling H, Bhattacharya A, Zhang G, Alam D, Lebowitz JZ, Bohm-Levine N, Lin D, Singha P, Mamcarz M, Puckett R, Zhou L, Aryal S, Sharp K, Kirshenbaum K, Berry-Kravis E, Neubert TA, Klann E. {{Altered steady state and activity-dependent de novo protein expression in fragile X syndrome}}. {Nat Commun}. 2019; 10(1): 1710.
Whether fragile X mental retardation protein (FMRP) target mRNAs and neuronal activity contributing to elevated basal neuronal protein synthesis in fragile X syndrome (FXS) is unclear. Our proteomic experiments reveal that the de novo translational profile in FXS model mice is altered at steady state and in response to metabotropic glutamate receptor (mGluR) stimulation, but the proteins expressed differ under these conditions. Several altered proteins, including Hexokinase 1 and Ras, also are expressed in the blood of FXS model mice and pharmacological treatments previously reported to ameliorate phenotypes modify their abundance in blood. In addition, plasma levels of Hexokinase 1 and Ras differ between FXS patients and healthy volunteers. Our data suggest that brain-based de novo proteomics in FXS model mice can be used to find altered expression of proteins in blood that could serve as disease-state biomarkers in individuals with FXS.
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4. Christensen DL, Maenner MJ, Bilder D, Constantino JN, Daniels J, Durkin MS, Fitzgerald RT, Kurzius-Spencer M, Pettygrove SD, Robinson C, Shenouda J, White T, Zahorodny W, Pazol K, Dietz P. {{Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 4 Years – Early Autism and Developmental Disabilities Monitoring Network, Seven Sites, United States, 2010, 2012, and 2014}}. {Morbidity and mortality weekly report Surveillance summaries (Washington, DC : 2002)}. 2019; 68(2): 1-19.
PROBLEM/CONDITION: Autism spectrum disorder (ASD) is estimated to affect up to 3% of children in the United States. Public health surveillance for ASD among children aged 4 years provides information about trends in prevalence, characteristics of children with ASD, and progress made toward decreasing the age of identification of ASD so that evidence-based interventions can begin as early as possible. PERIOD COVERED: 2010, 2012, and 2014. DESCRIPTION OF SYSTEM: The Early Autism and Developmental Disabilities Monitoring (Early ADDM) Network is an active surveillance system that provides biennial estimates of the prevalence and characteristics of ASD among children aged 4 years whose parents or guardians lived within designated sites. During surveillance years 2010, 2012, or 2014, data were collected in seven sites: Arizona, Colorado, Missouri, New Jersey, North Carolina, Utah, and Wisconsin. The Early ADDM Network is a subset of the broader ADDM Network (which included 13 total sites over the same period) that has been conducting ASD surveillance among children aged 8 years since 2000. Each Early ADDM site covers a smaller geographic area than the broader ADDM Network. Early ADDM ASD surveillance is conducted in two phases using the same methods and project staff members as the ADDM Network. The first phase consists of reviewing and abstracting data from children’s records, including comprehensive evaluations performed by community professionals. Sources for these evaluations include general pediatric health clinics and specialized programs for children with developmental disabilities. In addition, special education records (for children aged >/=3 years) were reviewed for Arizona, Colorado, New Jersey, North Carolina, and Utah, and early intervention records (for children aged 0 to <3 years) were reviewed for New Jersey, North Carolina, Utah, and Wisconsin; in Wisconsin, early intervention records were reviewed for 2014 only. The second phase involves a review of the abstracted evaluations by trained clinicians using a standardized case definition and method. A child is considered to meet the surveillance case definition for ASD if one or more comprehensive evaluations of that child completed by a qualified professional describes behaviors consistent with the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR) diagnostic criteria for any of the following conditions: autistic disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS, including atypical autism), or Asperger disorder (2010, 2012, and 2014). For 2014 only, prevalence estimates based on surveillance case definitions according to DSM-IV-TR and the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) were compared. This report provides estimates of overall ASD prevalence and prevalence by sex and race/ethnicity; characteristics of children aged 4 years with ASD, including age at first developmental evaluation, age at ASD diagnosis, and cognitive function; and trends in ASD prevalence and characteristics among Early ADDM sites with data for all 3 surveillance years (2010, 2012, and 2014), including comparisons with children aged 8 years living in the same geographic area. Analyses of time trends in ASD prevalence are restricted to the three sites that contributed data for all 3 surveillance years with consistent data sources (Arizona, Missouri, and New Jersey). RESULTS: The overall ASD prevalence was 13.4 per 1,000 children aged 4 years in 2010, 15.3 in 2012, and 17.0 in 2014 for Early ADDM sites with data for the specific years. ASD prevalence was determined using a surveillance case definition based on DSM-IV-TR. Within each surveillance year, ASD prevalence among children aged 4 years varied across surveillance sites and was lowest each year for Missouri (8.5, 8.1, and 9.6 per 1,000, for 2010, 2012, and 2014, respectively) and highest each year for New Jersey (19.7, 22.1, and 28.4 per 1,000, for the same years, respectively). Aggregated prevalence estimates were higher for sites that reviewed education and health care records than for sites that reviewed only health care records. Among all participating sites and years, ASD prevalence among children aged 4 years was consistently higher among boys than girls; prevalence ratios ranged from 2.6 (Arizona and Wisconsin in 2010) to 5.2 boys per one girl (Colorado in 2014). In 2010, ASD prevalence was higher among non-Hispanic white children than among Hispanic children in Arizona and non-Hispanic black children in Missouri; no other differences were observed by race/ethnicity. Among four sites with >/=60% data on cognitive test scores (Arizona, New Jersey, North Carolina, and Utah), the frequency of co-occurring intellectual disabilities was significantly higher among children aged 4 years than among those aged 8 years for each site in each surveillance year except Arizona in 2010. The percentage of children with ASD who had a first evaluation by age 36 months ranged from 48.8% in Missouri in 2012 to 88.9% in Wisconsin in 2014. The percentage of children with a previous ASD diagnosis from a community provider varied by site, ranging from 43.0% for Arizona in 2012 to 86.5% for Missouri in 2012. The median age at earliest known ASD diagnosis varied from 28 months in North Carolina in 2014 to 39.0 months in Missouri and Wisconsin in 2012. In 2014, the ASD prevalence based on the DSM-IV-TR case definition was 20% higher than the prevalence based on the DSM-5 (17.0 versus 14.1 per 1,000, respectively). Trends in ASD prevalence and characteristics among children aged 4 years during the study period were assessed for the three sites with data for all 3 years and consistent data sources (Arizona, Missouri, and New Jersey) using the DSM-IV-TR case definition; prevalence was higher in 2014 than in 2010 among children aged 4 years in New Jersey and was stable in Arizona and Missouri. In Missouri, ASD prevalence was higher among children aged 8 years than among children aged 4 years. The percentage of children with ASD who had a comprehensive evaluation by age 36 months was stable in Arizona and Missouri and decreased in New Jersey. In the three sites, no change occurred in the age at earliest known ASD diagnosis during 2010-2014. INTERPRETATION: The findings suggest that ASD prevalence among children aged 4 years was higher in 2014 than in 2010 in one site and remained stable in others. Among children with ASD, the frequency of cognitive impairment was higher among children aged 4 years than among those aged 8 years and suggests that surveillance at age 4 years might more often include children with more severe symptoms or those with co-occurring conditions such as intellectual disability. In the sites with data for all years and consistent data sources, no change in the age at earliest known ASD diagnosis was found, and children received their first developmental evaluation at the same or a later age in 2014 compared with 2010. Delays in the initiation of a first developmental evaluation might adversely affect children by delaying access to treatment and special services that can improve outcomes for children with ASD. PUBLIC HEALTH ACTION: Efforts to increase awareness of ASD and improve the identification of ASD by community providers can facilitate early diagnosis of children with ASD. Heterogeneity of results across sites suggests that community-level differences in evaluation and diagnostic services as well as access to data sources might affect estimates of ASD prevalence and age of identification. Continuing improvements in providing developmental evaluations to children as soon as developmental concerns are identified might result in earlier ASD diagnoses and earlier receipt of services, which might improve developmental outcomes.
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5. Danker J, Strnadova I, Cumming TM. {{Picture my well-being: Listening to the voices of students with autism spectrum disorder}}. {Res Dev Disabil}. 2019; 89: 130-40.
BACKGROUND: Student well-being, though widely researched, continues to be a poorly defined concept. Few student well-being studies focus on students with autism spectrum disorder (ASD), who may have a poorer sense of well-being compared to typically developing students. AIMS: The current study aims to explore the conceptualisation, barriers, and ways to enhance the well-being of students with ASD from their perspectives. METHODS AND PROCEDURES: Photovoice, a participatory research method was used to elicit the views of 16 high school students with ASD to explore the concept of well-being. Data analysis was conducted using a grounded theory approach. OUTCOMES AND RESULTS: Students conceptualised well-being as multidimensional, identified sensory barriers, social barriers, and barriers that were associated with learning, and several external and internal assets that could support their well-being. CONCLUSIONS AND IMPLICATIONS: To promote well-being, barriers should be mitigated, while external and internal assets developed. Researchers should also consider the use of Photovoice to enable students’ meaningful participation in research studies.
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6. DiStefano C, Senturk D, Jeste SS. {{ERP evidence of semantic processing in children with ASD}}. {Developmental cognitive neuroscience}. 2019; 36: 100640.
25% of children with autism spectrum disorder (ASD) remain minimally verbal (MV), despite intervention. Electroencephalography can reveal neural mechanisms underlying language impairment in ASD, potentially improving our ability to predict language outcomes and target interventions. Verbal (V) and MV children with ASD, along with an age-matched typically developing (TD) group participated in a semantic congruence ERP paradigm, during which pictures were displayed followed by the expected or unexpected word. An N400 effect was evident in all groups, with a shorter latency in the TD group. A late negative component (LNC) also differentiated conditions, with a group by condition by region interaction. Post hoc analyses revealed that the LNC was present across multiple regions in the TD group, in the mid-frontal region in MVASD, and not present in the VASD group. Cluster analysis identified subgroups within the ASD participants. Two subgroups showed markedly atypical patterns of processing, one with reversed but robust differentiation of conditions, and the other with initially reversed followed by typical differentiation. Findings indicate that children with ASD, including those with minimal language, showed EEG evidence of semantic processing, but it was characterized by delayed speed of processing and limited integration with mental representations.
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7. Ekman E, Hiltunen AJ. {{The Cognitive Profile of Persons with Obsessive Compulsive Disorder with and without Autism Spectrum Disorder}}. {Clinical practice and epidemiology in mental health : CP & EMH}. 2018; 14: 304-11.
Introduction: Autistic Spectrum Disorder (ASD) is often comorbid with Obsessive Compulsive Disorder (OCD). But to what extent can obsessional symptoms in individuals with ASD be considered « genuinely » comorbid OCD – or are there other mechanisms that are related to ASD? Which mechanisms in OCD with and without ASD share common features? People with ASD have a cognitive profile characterized by « mindblindness »; the antecedent is often referred to in terms of not knowing how to perform or behave and this is the cause of discomfort. This raises the question whether individuals with ASD and comorbid OCD share the same cognitive elements of responsibility interpretation and the same fear of causing harm as individuals who merely have OCD. Objective: The aim of the present study is therefore to evaluate the extent of responsibility interpretation in individuals with OCD alone compared with people experiencing OCD in the context of ASD. Methods: Two instruments, the Responsibility Attitude Scale (RAS) and the Responsibility Interpretations Questionnaire (RIQ), were administered to three groups of participants: (i) individuals diagnosed with OCD (n = 32); (ii) individuals with ASD and OCD (n = 19); and (iii) non-clinical control participants (n = 23). Results: Results indicate significant differences in all measures of responsibility belief (interpretation of obsession and assumption of responsibility) between the OCD-only group and the two other groups. Conclusion: The conclusion is that OCD in people with ASD is not as « genuine » as in people with only OCD, according to cognitive behavioral theory of OCD.
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8. Goetz GL, Rodriguez G, Hartley SL. {{Actor-partner examination of daily parenting stress and couple interactions in the context of child autism}}. {Journal of family psychology : JFP : journal of the Division of Family Psychology of the American Psychological Association (Division 43)}. 2019.
Parents of children with autism spectrum disorder (ASD) are at risk for poor couple relationship quality. The goal of the current study was to understand actor and partner associations between daily level of parenting stress and perceived couple interactions using a 14-day daily diary in 186 families of children with ASD. A comparison group of 182 families of children without a neurodevelopmental disability was included to determine if actor and partner associations differed in a context of child ASD. On each day of the 14-day diary, parents independently rated their daily level of parenting stress (7-point scale) and reported on the perceived presence of different types of positive (e.g., hugged and kissed) and negative (e.g., critical comment) couple interactions. Multilevel models were used to examine actor and partner effects, and their interaction, in mothers and fathers and by group (ASD vs. comparison). Results indicated that actor daily level of parenting stress negatively covaried with perceived positive couple interactions in mothers in both groups. In contrast, actor daily level of parenting stress positively covaried with perceived positive couple interactions in fathers in the ASD group. There was a significant interaction between actor and partner daily level of parenting stress for perceived negative couple interactions in both mothers and fathers. Specifically, one’s own daily level of parenting stress was more strongly positively related to her/his perceived negative couple interactions on days when her/his partner also had high parenting stress. This interaction was stronger in mothers in the ASD versus comparison group. Implications for family interventions are discussed. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
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9. Hollocks MJ, Casson R, White C, Dobson J, Beazley P, Humphrey A. {{Brief Report: An Evaluation of the Social Communication Questionnaire as a Screening Tool for Autism Spectrum Disorder in Young People Referred to Child & Adolescent Mental Health Services}}. {J Autism Dev Disord}. 2019.
The SCQ is a widely used screening measure for the assessment of autism spectrum disorder (ASD). However, its sensitivity and specificity when used with older children in the context of community Child & Adolescent Mental Health services is unclear. Seventy-seven (Mean age = 12.8 years) young people with suspected ASD were screened using parent- and teacher-reported SCQ’s before completing a comprehensive diagnostic assessment. Of the 77 young people included, 44 (57%) met criteria for an ASD diagnosis. Our results indicated that regardless of informant, SCQ scores did not significantly predict the outcome of the diagnostic assessment. Based on the published cut-off score for the SCQ, Receiver Operating Characteristic curve analyses revealed a lower than expected sensitivity and specificity. This suggests that the SCQ is not an effective screening tool when used in the context of community Child & Adolescent Mental Health services.
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10. Isaksson J, Van’t Westeinde A, Cauvet E, Kuja-Halkola R, Lundin K, Neufeld J, Willfors C, Bolte S. {{Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study}}. {J Autism Dev Disord}. 2019.
Alterations in social cognition (SC) are hypothesized to underlie social communication and interaction challenges in autism spectrum disorder (ASD). The aetiological underpinnings driving this association remain unclear. We examined SC in 196 twins with ASD, other neurodevelopmental disorders or typical development using the naturalistic Movie for the Assessment of Social Cognition. Autism and its severity were assessed with the Autism Diagnostic Observation Schedule-2, and autistic traits with the Social Responsiveness Scale-2. Using within twin-pair regression models, controlling for age, sex, IQ, and unmeasured familial confounders such as genetic background and shared-environment, SC correlated with ASD diagnosis, autism severity, and autistic traits. Our findings highlight the importance of SC alterations in autism and suggest a non-shared environmental impact on the association.
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11. Kitzerow J, Teufel K, Jensen K, Wilker C, Freitag CM. {{Case-control study of the low intensive autism-specific early behavioral intervention A-FFIP: Outcome after one year}}. {Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie}. 2019: 1-10.
Abstracts: Objective: In current international research, early intervention in children with autism-spectrum disorder (ASD) focuses on naturalistic developmental behavioral interventions (NDBI). The manualized Frankfurt Early Intervention Program for preschool-aged children with ASD (A-FFIP) implements NDBI principles within a low-intensity approach of 2 h intervention/week. The present case-control study established effect sizes of change in autistic symptoms, comorbid behavioral problems as well as IQ after one year. Methodology: An intervention group (N = 20; age: 3.4-7.9 years) and a treatment-as-usual control group (N = 20; age: 3.2-7.3 years) of children with ASD were matched for developmental and chronological age. The outcome measures used were the ADOS severity score, the Child Behavior Checklist, and cognitive development. Results: After one year, the A-FFIP group showed a trend towards greater improvement in autistic symptoms (eta2 = .087 [95 %-CI: .000-.159]) and significantly greater improvements in cognitive development (eta2 = .206 [CI: .012-.252]) and global psychopathology (eta2 = .144 [CI: .001-.205]) compared to the control group. Conclusion: The efficacy of A-FFIP should be established in a larger, sufficiently powered, randomized controlled study.
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12. Lai MC, Szatmari P. {{Resilience in autism: Research and practice prospects}}. {Autism}. 2019; 23(3): 539-41.
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13. Lane R, Radesky J. {{Digital Media and Autism Spectrum Disorders: Review of Evidence, Theoretical Concerns, and Opportunities for Intervention}}. {J Dev Behav Pediatr}. 2019.
As the digital media landscape becomes more complex, individualized, and interactive, pediatric providers often find themselves asked to be the source of guidance for children with developmental and behavioral conditions such as autism spectrum disorder (ASD). In this brief report, we review the current literature that exists regarding the use of traditional media (e.g., TV, video games) in children with ASD. We then outline a conceptual framework to describe the interaction between ASD-specific developmental and behavioral vulnerabilities and the aspects of new media (e.g., mobile devices, interactive apps, streaming video services) that could lead to problematic media use. This conceptual framework is then applied to clinical implications for how to prevent and manage problematic media usage in ASD and how to use modern media as tools to support optimal development.
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14. Mahdavinasab SM, Saghazadeh A, Motamed-Gorji N, Vaseghi S, Mohammadi MR, Alichani R, Akhondzadeh S. {{Baclofen as an adjuvant therapy for autism: a randomized, double-blind, placebo-controlled trial}}. {Eur Child Adolesc Psychiatry}. 2019.
Increasing evidence suggests that the function of the GABAergic system is abnormally low in autism spectrum disorder (ASD). Baclofen, which functions as a selective agonist for GABAB receptors, does appear promising for the treatment of ASD. We conducted a 10-week randomized-controlled study aimed at evaluating the potential of baclofen as an adjuvant therapy to enhance the effect of risperidone in children with ASD. Sixty-four children (3-12 years) with moderate-to-severe irritability symptoms of ASD were included. We used the Aberrant Behavior Checklist-Community Edition (ABC-C) for the outcome measures on each of the follow-up visits (weeks 0, 5, and 10). Analysis of the combined data revealed significant improvement for all the ABC subscales (irritability: F = 51.644, df = 1.66, p < 0.001, lethargy: F = 39.734, df = 1.38, p < 0.001, stereotypic behavior: F = 25.495, df = 1.56, p < 0.001, hyperactivity: F = 54.135, df = 1.35, p < 0.001, and inappropriate speech: F = 19.277, df = 1.47, p = 0.004). Combined treatment with baclofen and risperidone exerted a greater effect on improvement of hyperactivity symptoms at both midpoint [Cohen's d, 95% confidence interval (CI) = - 3.14, - 5.56 to - 0.72] and endpoint (d, 95% CI = - 4.45, - 8.74 to - 0.16) when compared with treatment with placebo plus risperidone. The two treatments achieved comparable results for other outcome measures. Our data support safety and efficacy of baclofen as an adjuvant to risperidone for improvement of hyperactivity symptoms in children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
15. Margari L, Palumbi R, Peschechera A, Craig F, de Giambattista C, Ventura P, Margari F. {{Sex-Gender Comparisons in Comorbidities of Children and Adolescents With High-Functioning Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2019; 10: 159.
Over the last few years, new studies focused their attention on the gender-related features in high-functioning autism spectrum disorder (HFA), often leading to controversial results. Another interesting aspect of these subtype of patients is linked to the complexity of clinical presentation, where besides core symptoms, other co-occurrence disorders may complicate the diagnostic evaluation. Therefore, we retrospectively studied 159 HFA patients, male and female, investigating their comorbidities and to find any gender difference. For each patient, were evaluated the presence/absence, type and gender distribution of psychopathological comorbidities, according to DSM-5 diagnostic criteria. The total sample was divided in 100 male and 59 female patients, age and intelligence quotient matched. In our sample, the psychiatric comorbidities observed were Attention Deficit Hyperactivity Disorder, Anxiety Disorders, Depressive Disorders, Bipolar Disorder, Obsessive-Compulsive Disorder, and Anorexia Nervosa. No statistical significant differences were found between male and female HFA patients comorbidities except for Anorexia Nervosa. In both male and female patients, attention deficit and hyperactivity disorder and anxiety disorders were found in high percentage. In conclusion, our investigation showed that a statistical significant difference of comorbidity between male and female HFA patients was found only for AN diagnosis. However, the question about the distinction between female and male HFA patients remains quite interesting and an open area of research for future studies.
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16. Marquez C, Nicolini H, Crowley MJ, Solis-Vivanco R. {{Early processing (N170) of infant faces in mothers of children with autism spectrum disorder and its association with maternal sensitivity}}. {Autism Res}. 2019.
Individuals with autism spectrum disorder (ASD) exhibit impaired adult facial processing, as shown by the N170 event-related potential. However, few studies explore such processing in mothers of children with ASD, and none has assessed the early processing of infant faces in these women. Moreover, whether processing of infant facial expressions in mothers of children with ASD is related to their response to their child’s needs (maternal sensitivity [MS]) remains unknown. This study explored the N170 related to infant faces in a group of mothers of children with ASD (MA) and a reference group of mothers of children without ASD. For both emotional (crying, smiling) and neutral expressions, the MA group exhibited larger amplitudes of N170 in the right hemisphere, while the reference group showed similar interhemispheric amplitudes. This lateralization effect within the MA group was not present for nonfaces and was stronger in the mothers with higher MS. We propose that mothers of ASD children use specialized perceptual resources to process infant faces, and this specialization is mediated by MS. Our findings suggest that having an ASD child modulates mothers’ early neurophysiological responsiveness to infant cues. Whether this modulation represents a biological marker or a response given by experience remains to be explored. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: When mothers of children with autism spectrum disorder (ASD) see baby faces expressing emotions, they show a right-sided electrical response in the brain. This lateralization was stronger in mothers who were more sensitive to their children’s needs. We conclude that having a child with ASD and being more attuned to their behavior generates a specialized pattern of brain activity when processing infant faces. Whether this pattern is biological or given by experience remains to be explored.
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17. Quinn BP, Stark MD, Hunter AK, Evans A, Hennessey KA. {{Purpose in adolescents diagnosed with an autism spectrum disorder}}. {Journal of adolescence}. 2019; 73: 53-62.
INTRODUCTION: Drawing from positive youth development theory, the research team examined purpose in life among adolescents diagnosed with an autism spectrum disorder (ASD). METHODS: Members of the research team conducted paired interviews about purpose in life with adolescents diagnosed with an ASD and one of each adolescent’s parents. Data collection took place in the south-central region of the US. The eight adolescent participants were in middle school, high school, and early college. The research team open-coded interview transcripts and condensed these codes into meta-codes to aid in determining the form of purpose for each participant. RESULTS: Similar to what has been found in studies of neurotypical youth, participants distributed diversely across the forms of purpose, with all but one participant demonstrating some aspect of purpose. CONCLUSIONS: The authors recommend practitioners consider the variety of supports they could provide to adolescents diagnosed with an ASD and consider encouraging these youth when their creative interests are sparked. Additionally, the research team invites the scholarly community to further investigate specific contextual supports and to develop ways of measuring purpose that do not rely on advanced language and social skills.
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18. Ros R, Graziano PA. {{A Transdiagnostic Examination of Self-Regulation: Comparisons Across Preschoolers with ASD, ADHD, and Typically Developing Children}}. {J Clin Child Adolesc Psychol}. 2019: 1-16.
The purpose of the current study was to identify profiles of self-regulation across executive functioning (EF) and emotion regulation (ER) and examine profiles’s impact on treatment outcomes. Participants included 100 preschoolers (Mage = 4.73, 75% Male, 79% Hispanic) including 37 with autism spectrum disorder and attention-deficit/hyperactivity disorder (ASD+ADHD), 32 with ADHD-only, and 31 typically developing children. Parents and teachers reported on children’s EF, ER, ASD, and ADHD symptoms. Children were administered an EF battery and observed for ER during a frustration task. Children participated in an intensive behavioral summer treatment program (STP-PreK) aimed at improving school readiness across behavioral, academic, and self-regulation domains. Latent profile analyses produced 4 profiles: (a) Low ER and EF Deficits, (b) High ER Deficits, (c) High EF Deficits, and (d) Moderate ER and EF Deficits. ASD and ADHD symptoms predicted lower membership probability within the Low ER and EF Deficits Profile and higher membership probability within the Moderate ER and EF Deficits Profile. However, only ASD symptoms predicted membership within the High EF Deficits Profile. Only ADHD symptoms predicted membership within the High ER Deficits Profile. Even after accounting for diagnostic symptoms, profile membership was predictive of treatment response across behavioral and academic domains. Children in the High EF Deficits Profile experienced the largest gains. Results highlight the specificity of self-regulation deficits within and across diagnoses. Self-regulation profiles demonstrated clinical utility in predicting treatment response above traditional symptom based classifications, providing evidence for the use of transdiagnostic approaches.
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19. Solomon M, Iosif AM, Krug MK, Nordahl CW, Adler E, Mirandola C, Ghetti S. {{Emotional false memory in autism spectrum disorder: More than spared}}. {Journal of abnormal psychology}. 2019.
To advance what is known about how emotions affect memory in autism spectrum disorder (ASD), we examined emotional false memory for negative, positive, and neutrally valenced photographs comprising scripts of everyday events in a verbal IQ-case matched sample of youth ages 8-14 with ASD (N = 38) and typical development (TYP, N = 38). The groups exhibited many similarities. Their task performance during a recognition task including previously seen and unseen photographs was largely comparable. They evidenced high hit rates for previously viewed photographs, and low false alarm rates for lure photographs that were inconsistent with the scripts. Both ASD and TYP groups showed relatively higher false alarms for lure photographs depicting previously unseen causes of scenario outcomes (causal errors) compared to errors for script-consistent lure photographs that showed extra potentially related events (gap-filling errors). In both groups, task performance was associated with verbal working memory, but not attention deficit hyperactivity, anxiety, or depression symptoms. However, the ASD group made more causal and gap-filling errors on negative and positive, but not neutral, lures compared to TYP, indicating that viewing emotionally valenced stimuli made it harder to discriminate previously seen and unseen photographs. For the ASD group, task performance was associated with compulsive, ritualistic, and sameness behaviors and stereotypic and restricted interests. Findings suggest that the integration of cognition and emotion in ASD is altered and associated with the presence of repetitive behaviors. The impact of these results on the lives of individuals with ASD and implications for psychosocial interventions are discussed. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
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20. Thapa R, Alvares GA, Zaidi TA, Thomas EE, Hickie IB, Park SH, Guastella AJ. {{Reduced heart rate variability in adults with autism spectrum disorder}}. {Autism Res}. 2019.
A growing body of research has suggested heart rate variability (HRV) may be reduced in autism spectrum disorder (ASD) in comparison to neurotypical cohorts. While there have been several studies investigating HRV in children diagnosed with ASD, few studies have been conducted in adults. The objective of the current study was to investigate autonomic nervous system activity as assessed by HRV in adults diagnosed with ASD. We hypothesized that adults with ASD would show a reduction in HRV compared to neurotypical participants. Participants diagnosed with ASD (n = 55) were recruited from the Autism Clinic for Translational Research at the Brain and Mind Centre (University of Sydney) between 2013 and 2017. Neurotypical participants were recruited from advertisements and online media. Resting state heart rate was measured for 5 min while participants sat in an upright position. Results showed there was an overall significant difference in resting-state HRV between adults diagnosed with ASD compared to the neurotypical control group. Logarithmically transformed high frequency (HF) and root mean square of successive differences were particularly decreased in the ASD group, suggesting lower parasympathetic activity. The use of psychotropic medications and comorbidities were associated with reductions in low frequency of HRV. Our data suggest an overall dysregulation in resting autonomic activity in adults with ASD. This may represent an important physiological mechanism leading to potential cardiovascular risk in ASD, which warrants further investigation. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ASD is commonly associated with a range of physical and mental health comorbidities. Autonomic disruptions underlying reductions in heart rate variability (HRV) have been linked to a range of mental and physical health conditions. We assessed resting-state HRV in adults diagnosed with ASD in comparison to healthy individuals. Our results showed reduced heart rate variability in people diagnosed with ASD compared to adults without ASD. These findings implicate a role for autonomic activity as a potentially modifiable risk factor for ASD.
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21. Walker SJ, Langefeld CD, Zimmerman K, Schwartz MZ, Krigsman A. {{A molecular biomarker for prediction of clinical outcome in children with ASD, constipation, and intestinal inflammation}}. {Sci Rep}. 2019; 9(1): 5987.
In children with autism spectrum disorder (ASD) who present to the gastroenterologist with chronic constipation on a background of colonic inflammation, we have identified two distinct clinical subtypes: (1) patients who experience a sustained state of GI symptomatic remission while on maintenance anti-inflammatory therapy (fast responders) and, (2) those with recurrent right-sided fecal loading requiring regular colon cleanouts during treatment for enterocolitis (slow responders). We hypothesized that a detailed molecular analysis of tissue from the affected region of the colon would provide mechanistic insights regarding the fast versus slow response to anti-inflammatory therapy. To test this, ascending colon biopsy tissues from 35 children with ASD (20 slow responders and 15 fast responders) were analyzed by RNAseq. Hierarchical cluster analysis was performed to assign samples to clusters and gene expression analysis was performed to identify differentially expressed transcripts (DETs) between samples within the clusters. Significant differences were found between the two clusters with fast responder-predominant cluster showing an upregulation of transcripts involved in the activation of immune and inflammatory response and the slow responder-predominant cluster showing significant over-representation of pathways impacting colonic motility (e.g. genes involved in tryptophan and serotonin degradation and mitochondrial dysfunction). Regression analysis identified a single long non-coding RNA that could predict cluster assignment with a high specificity (0.88), sensitivity (0.89) and accuracy (0.89). Comparison of gene expression profiles in the ascending colon from a subset of patients with ASD, chronic right-sided fecal loading constipation and a slow versus fast response to therapy has identified molecular mechanisms that likely contribute to this differential response following the primary therapeutic intervention (i.e. treatment for colonic inflammation with brief induction immunosuppression followed by maintenance non-steroidal anti-inflammatory therapy). Importantly, we have identified a transcript that, if validated, may provide a biomarker that can predict from the outset which patients will be slow responders who would benefit from an alternate therapeutic strategy in treating their constipation.
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22. Wang S. {{Brief Report: Atypical Visual Exploration in Autism Spectrum Disorder Cannot be Attributed to the Amygdala}}. {J Autism Dev Disord}. 2019.
Prior studies have emphasized the contribution of aberrant amygdala structure and function in social aspects of autism. However, it remains largely unknown whether amygdala dysfunction directly impairs visual attention and exploration as has been observed in people with autism spectrum disorders (ASD). Here, gaze patterns were directly compared between a rare amygdala lesion patient and adults with ASD when they freely viewed static images of complex natural scenes. The amygdala lesion patient showed a gaze pattern that was more similar to controls rather than that of the ASD group, which was independent of image content (social vs. objects) or complexity. This finding was further corroborated by analysis of temporal aspects of the gaze patterns and semantic category analysis. Together, the present results suggest that abnormal visual exploration observed in people with ASD is not likely primarily attributed to the amygdala.
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23. Yamashita Y, Makinodan M, Toritsuka M, Yamauchi T, Ikawa D, Kimoto S, Komori T, Takada R, Kayashima Y, Hamano-Iwasa K, Tsujii M, Matsuzaki H, Kishimoto T. {{Anti-inflammatory Effect of Ghrelin in Lymphoblastoid Cell Lines From Children With Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2019; 10: 152.
The gut hormone ghrelin has been implicated in a variety of functional roles in the central nervous system through the brain-gut axis, one of which is an anti-inflammatory effect. An aberrant brain-gut axis producing immune dysfunction has been implicated in the pathobiology of autism spectrum disorder (ASD), and elevated expression of inflammatory markers has been shown in blood and brain tissue from subjects with ASD. We hypothesized that ghrelin may mitigate this effect. Lymphoblastoid cell lines from typically developed children (TD-C) (N = 20) and children with ASD (ASD-C) (N = 20) were cultured with PBS or human ghrelin (0.01 muM) for 24 h, and mRNA expression levels of the inflammation-related molecules interleukin-1beta (IL-1beta), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), and nuclear factor kappa B (NF-kappaB) were measured to examine the effects of ghrelin as an anti-inflammatory agent. Expression levels of TNF-alpha and NF-kappaB mRNA, but not IL-1beta or IL-6, were significantly elevated in ASD-C compared to TD-C. Ghrelin showed a tendency to reduce the expression of TNF-alpha and NF-kappaB, but this was not statistically significant. Considering the heterogenous pathobiology of ASD, we examined the effects of ghrelin on TD-C and ASD-C with expression levels of TNF-alpha and NF-kappaB in the highest and lowest quartiles. We found that ghrelin markedly reduced mRNA expression of TNF-alpha and NF-kappaB s in ASD-C with highest-quartile expression, but there were no effects in ASD-C with lowest-quartile expression, TD-C with highest quartile expression, or TD-C with lowest quartile expression. Together, these findings suggest that ghrelin has potential as a novel therapeutic agent for ASD with inflammation and/or immune dysfunction.
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24. Zhao B, Wu Q, Ye AY, Guo J, Zheng X, Yang X, Yan L, Liu QR, Hyde TM, Wei L, Huang AY. {{Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals}}. {PLoS Genet}. 2019; 15(4): e1008043.
Mounting evidence supports that LINE-1 (L1) retrotransposition can occur postzygotically in healthy and diseased human tissues, contributing to genomic mosaicism in the brain and other somatic tissues of an individual. However, the genomic distribution of somatic human-specific LINE-1 (L1Hs) insertions and their potential impact on carrier cells remain unclear. Here, using a PCR-based targeted bulk sequencing approach, we profiled 9,181 somatic insertions from 20 postmortem tissues from five Rett patients and their matched healthy controls. We identified and validated somatic L1Hs insertions in both cortical neurons and non-brain tissues. In Rett patients, somatic insertions were significantly depleted in exons-mainly contributed by long genes-than healthy controls, implying that cells carrying MECP2 mutations might be defenseless against a second exonic L1Hs insertion. We observed a significant increase of somatic L1Hs insertions in the brain compared with non-brain tissues from the same individual. Compared to germline insertions, somatic insertions were less sense-depleted to transcripts, indicating that they underwent weaker selective pressure on the orientation of insertion. Our observations demonstrate that somatic L1Hs insertions contribute to genomic diversity and MeCP2 dysfunction alters their genomic patterns in Rett patients.
