1. Akemoglu Y, Tomeny KR. {{A Parent-Implemented Shared-Reading Intervention to Promote Communication Skills of Preschoolers with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
In the current study, we examined the effect of a parent-implemented early communication intervention during shared book reading. Three mothers of children with autism spectrum disorder were trained and coached to use a set of reading techniques and evidenced-based naturalistic communication teaching strategies (i.e., modeling, mand-model, and time delay). Using a multiple-baseline design across behaviors, the following three components were examined: (a) the mothers’ use of reading techniques with fidelity, (b) the mothers’ rate and fidelity in using the three naturalistic teaching strategies, and (c) the children’s communication outcomes. After training and coaching, the mothers used the reading techniques and naturalistic teaching strategies with high fidelity. The children initiated more communicative acts upon their mothers’ use of time delay.
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2. Alshihri AA, Al-Askar MH, Aldossary MS. {{Barriers to Professional Dental Care among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Aims were to: (1) investigate the parental difficulties toward their ASD children dental care and, (2) analyze factors influencing their access to such services. Questionnaires were completed by 142 mothers of ASD children. Children aged between 2.5 and 14 years old, with 3.9:1 male to female ratio. 68.3% perceived difficulties in finding dental care. Most barriers were: Cost (75.4%), finding a dentist to treat ASD child (74.6%), and behavior of their ASD child (45.1%). There was no difference among age and « difficulty finding dental care » (p = 0.429). Having medical insurance and previous bad experience showed significant effects on the difficulty in finding dental care (p < 0.05). Children with ASD and their parents encounter various barriers to dental services. Lien vers le texte intégral (Open Access ou abonnement)
3. Bilgiç A, Abuşoğlu S, Sadıç Çelikkol Ç, Oflaz MB, Akça Ö F, Sivrikaya A, Baysal T, Ünlü A. {{Altered Kynurenine Pathway Metabolite Levels in Toddlers and Preschool Children With Autism Spectrum Disorder}}. {Int J Neurosci}. 2020: 1-12.
Aim: There are increasing reports about the potential role of kynurenine pathway metabolites in autism spectrum disorder (ASD). Early childhood is a very crucial period of time for the etiopathogenesis of ASD and previous studies reported an age-dependent alteration in kynurenine metabolism. However, no study specifically examined kynurenine metabolites in very young children with ASD. This study aimed to investigate kynurenine pathway metabolite levels, kynurenine pathway enzyme activities and neuroprotective index (kynurenic acid/3-hydroxykynurenine ratio) in toddlers and preschool children with ASD. Materials and Methods: A total of 68 children with ASD and 44 healthy controls aged between 18 and 60 months were included in this study. Serum levels of kynurenine pathway metabolites were determined by liquid chromatography-mass spectrometry/mass spectrometry system. Results: Serum 3-hydroxykynurenine and kynurenic acid concentrations were significantly higher in the ASD group than in the control group, whereas serum 3-hydroxyanthranilic acid concentrations were significantly lower. Conclusions: These findings showed that the kynurenine pathway may play a role in the etiopathogenesis of ASD in early childhood.
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4. Bletsch A, Schäfer T, Mann C, Andrews DS, Daly E, Gudbrandsen M, Ruigrok ANV, Dallyn R, Romero-Garcia R, Lai MC, Lombardo MV, Craig MC, Suckling J, Bullmore ET, Baron-Cohen S, Murphy DGM, Dell’Acqua F, Ecker C. {{Atypical measures of diffusion at the gray-white matter boundary in autism spectrum disorder in adulthood}}. {Hum Brain Mapp}. 2020.
Autism spectrum disorder (ASD) is a highly complex neurodevelopmental condition that is accompanied by neuroanatomical differences on the macroscopic and microscopic level. Findings from histological, genetic, and more recently in vivo neuroimaging studies converge in suggesting that neuroanatomical abnormalities, specifically around the gray-white matter (GWM) boundary, represent a crucial feature of ASD. However, no research has yet characterized the GWM boundary in ASD based on measures of diffusion. Here, we registered diffusion tensor imaging data to the structural T1-weighted images of 92 adults with ASD and 92 matched neurotypical controls in order to examine between-group differences and group-by-sex interactions in fractional anisotropy and mean diffusivity sampled at the GWM boundary, and at different sampling depths within the superficial white and into the gray matter. As hypothesized, we observed atypical diffusion at and around the GWM boundary in ASD, with between-group differences and group-by-sex interactions depending on tissue class and sampling depth. Furthermore, we identified that altered diffusion at the GWM boundary partially (i.e., ~50%) overlapped with atypical gray-white matter tissue contrast in ASD. Our study thus replicates and extends previous work highlighting the GWM boundary as a crucial target of neuropathology in ASD, and guides future work elucidating etiological mechanisms.
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5. Casartelli L, Federici A, Fumagalli L, Cesareo A, Nicoli M, Ronconi L, Vitale A, Molteni M, Rizzolatti G, Sinigaglia C. {{Neurotypical individuals fail to understand action vitality form in children with autism spectrum disorder}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2020.
Any defects of sociality in individuals diagnosed with autism spectrum disorder (ASD) are standardly explained in terms of those individuals’ putative impairments in a variety of cognitive functions. Recently, however, the need for a bidirectional approach to social interaction has been emphasized. Such an approach highlights differences in basic ways of acting between ASD and neurotypical individuals which would prevent them from understanding each other. Here we pursue this approach by focusing on basic action features reflecting the agent’s mood and affective states. These are action features Stern named « vitality forms, » and which are widely assumed to substantiate core social interactions [D. N. Stern, The Interpersonal World of the Infant (1985); D. N. Stern, Forms of Vitality Exploring Dynamic Experience in Psychology, Arts, Psychotherapy, and Development (2010)]. Previously we demonstrated that, although ASD and typically developing (TD) children alike differentiate vitality forms when performing actions, ASD children express them in a way that is motorically dissimilar to TD children. To assess whether this motor dissimilarity may have consequences for vitality form recognition, we asked neurotypical participants to identify the vitality form of different types of action performed by ASD or TD children. We found that participants exhibited remarkable inaccuracy in identifying ASD children’s vitality forms. Interestingly, their performance did not benefit from information feedback. This indicates that how people act matters for understanding others and for being understood by them. Because vitality forms pervade every aspect of daily life, our findings promise to open the way to a deeper comprehension of the bidirectional difficulties for both ASD and neurotypical individuals in interacting with one another.
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6. Davidovitch M, Slobodin O, Weisskopf MG, Rotem RS. {{Age-Specific Time Trends in Incidence Rates of Autism Spectrum Disorder Following Adaptation of DSM-5 and Other ASD-Related Regulatory Changes in Israel}}. {Autism Res}. 2020.
We analyzed data on 879,029 children born in 1999-2017 from a large Israeli health fund to evaluate time-trends in incidence of autism spectrum disorder (ASD). This included examining possible effects associated with the adaptation of the DSM-5 criteria for ASD, and the implementation of regulatory changes affecting eligibility for ASD-related stipends and services. ASD cases were ascertained based on electronic medical records review, with complete verification of ASD case status. Results indicated a substantial increase in ASD incidence rate (IR) over time that was overall not appreciably affected by the above changes. Cumulative incidence through age 8 rose from 0.46% (boys: 0.73; girls: 0.18) in 2007 to 1.30% (boys: 2.12; girls: 0.45) in 2018. Age-specific analyzes indicated that the largest increase in IR occurred in toddlers and preschool children, with a more modest increase at older age groups. Results suggest that the rise in early diagnosed ASD does not stem from a downward shift in the distribution of ages at first diagnosis, but rather from early detection of cases not previously diagnosed. Findings highlight the need to expand research aimed at identifying exogenous factors that may underlie the rise in incidence, and to evaluate factors that may contribute to late diagnosis of some cases. LAY SUMMARY: In an analysis of nearly 900,000 Israeli children born in 1999-2017, we found that the incidence of autism spectrum disorder (ASD) increased significantly over time, especially among toddlers and preschool children but also at older age groups. We additionally observed that changes affecting diagnostic criteria for ASD and eligibility for ASD-related services did not appreciably affect these trends. Results highlight the need to continue research aimed at identifying factors causing this increase and reasons contributing to late diagnosis of some cases.
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7. Di Grazia A, Marafini I, Pedini G, Di Fusco D, Laudisi F, Dinallo V, Rosina E, Stolfi C, Franzè E, Sileri P, Sica G, Monteleone G, Bagni C, Monteleone I. {{The Fragile X Mental Retardation Protein regulates RIP1K and colorectal cancer resistance to necroptosis}}. {Cellular and molecular gastroenterology and hepatology}. 2020.
BACKGROUND & AIMS: The Fragile X Mental Retardation Protein (FMRP) affects multiple steps of the mRNA metabolism during brain development and in different neoplastic processes. However, the contribution of FMRP in colon carcinogenesis has not been investigated. METHODS: FMRP transcripts and proteins expression were analyzed in human colon samples derived from patients with sporadic CRC and healthy subjects. We used a well-established mouse model of sporadic CRC induced by Azoxymethane (AOM) to determine the possible role of FMRP in CRC. To address whether FMRP controls cancer cell survival, we analyzed cell death pathway in CRC human epithelial cell lines and in patient-derived colon cancer organoid in presence or absence of a specific FMRP antisense oligonucleotide or siRNA. RESULTS: We document a significant increase of FMRP in human CRC relative to non-tumor tissues. Next, using an inducible mouse model of CRC, we observed a reduction of colonic tumor incidence and size in the Fmr1 KO mice. The abrogation of FMRP induced spontaneous cell death in human CRC cells lines activating the necroptotic pathway. Indeed, specific immunoprecipitation experiments on human cell lines and CRC samples indicate that FMRP binds receptor-interacting protein kinase 1 (RIPK1) mRNA suggesting that FMRP acts as a master regulator of necroptosis pathway through the surveillance of RIPK1 mRNA metabolism. Treatment of human CRC cells lines and patient-derived colon cancer organoids with the FMR1 antisense results in an upregulation of RIPK1, which drives the CRC human cell towards the necroptosis. CONCLUSIONS: Altogether, these data support a role for FMRP in sustaining colon tumorigenesis controlling the RIPK1 expression and ultimately abrogating the activation of the necroptotic pathway.
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8. Gale R, Chen L, Dolata J, van Santen J, Asgari M. {{Improving ASR Systems for Children with Autism and Language Impairment Using Domain-Focused DNN Transfer Techniques}}. {Interspeech}. 2019; 2019: 11-5.
This study explores building and improving an automatic speech recognition (ASR) system for children aged 6-9 years and diagnosed with autism spectrum disorder (ASD), language impairment (LI), or both. Working with only 1.5 hours of target data in which children perform the Clinical Evaluation of Language Fundamentals Recalling Sentences task, we apply deep neural network (DNN) weight transfer techniques to adapt a large DNN model trained on the LibriSpeech corpus of adult speech. To begin, we aim to find the best proportional training rates of the DNN layers. Our best configuration yields a 29.38% word error rate (WER). Using this configuration, we explore the effects of quantity and similarity of data augmentation in transfer learning. We augment our training with portions of the OGI Kids’ Corpus, adding 4.6 hours of typically developing speakers aged kindergarten through 3(rd) grade. We find that 2(nd) grade data alone – approximately the mean age of the target data – outperforms other grades and all the sets combined. Doubling the data for 1(st), 2(nd), and 3(rd) grade, we again compare each grade as well as pairs of grades. We find the combination of 1(st) and 2(nd) grade performs best at a 26.21% WER.
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9. Heinze K, Barron HC, Howes EK, Ramaswami M, Broome MR. {{Impaired inhibitory processing: a new therapeutic target for autism and psychosis?}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-4.
In the healthy brain, homeostatic balance between excitation and inhibition maintains neural stability. Reduced inhibition may explain shared symptoms observed in autism and psychosis. Here we review evidence suggesting that altered levels of gamma-aminobutyric acid (GABA) may underlie both disorders, providing a potential cross-diagnostic therapeutic target.
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10. Kang DW, Adams JB, Vargason T, Santiago M, Hahn J, Krajmalnik-Brown R. {{Distinct Fecal and Plasma Metabolites in Children with Autism Spectrum Disorders and Their Modulation after Microbiota Transfer Therapy}}. {mSphere}. 2020; 5(5).
Accumulating evidence has strengthened a link between dysbiotic gut microbiota and autism. Fecal microbiota transplant (FMT) is a promising therapy to repair dysbiotic gut microbiota. We previously performed intensive FMT called microbiota transfer therapy (MTT) for children with autism spectrum disorders (ASD) and observed a substantial improvement of gastrointestinal and behavioral symptoms. We also reported modulation of the gut microbiome toward a healthy one. In this study, we report comprehensive metabolite profiles from plasma and fecal samples of the children who participated in the MTT trial. With 619 plasma metabolites detected, we found that the autism group had distinctive metabolic profiles at baseline. Eight metabolites (nicotinamide riboside, IMP, iminodiacetate, methylsuccinate, galactonate, valylglycine, sarcosine, and leucylglycine) were significantly lower in the ASD group at baseline, while caprylate and heptanoate were significantly higher in the ASD group. MTT drove global shifts in plasma profiles across various metabolic features, including nicotinate/nicotinamide and purine metabolism. In contrast, for 669 fecal metabolites detected, when correcting for multiple hypotheses, no metabolite was significantly different at baseline. Although not statistically significant, p-cresol sulfate was relatively higher in the ASD group at baseline, and after MTT, the levels decreased and were similar to levels in typically developing (TD) controls. p-Cresol sulfate levels were inversely correlated with Desulfovibrio, suggesting a potential role of Desulfovibrio on p-cresol sulfate modulation. Further studies of metabolites in a larger ASD cohort, before and after MTT, are warranted, as well as clinical trials of other therapies to address the metabolic changes which MTT was not able to correct.IMPORTANCE Despite the prevalence of autism and its extensive impact on our society, no U.S. Food and Drug Administration-approved treatment is available for this complex neurobiological disorder. Based on mounting evidences that support a link between autism and the gut microbiome, we previously performed a pioneering open-label clinical trial using intensive fecal microbiota transplant. The therapy significantly improved gastrointestinal and behavioral symptoms. Comprehensive metabolomic measurements in this study showed that children with autism spectrum disorder (ASD) had different levels of many plasma metabolites at baseline compared to those in typically developing children. Microbiota transfer therapy (MTT) had a systemic effect, resulting in substantial changes in plasma metabolites, driving a number of metabolites to be more similar to those from typically developing children. Our results provide evidence that changes in metabolites are one mechanism of the gut-brain connection mediated by the gut microbiota and offer plausible clinical evidence for a promising autism treatment and biomarkers.
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11. Khan NA, Waheeb SA, Riaz A, Shang X. {{A Three-Stage Teacher, Student Neural Networks and Sequential Feed Forward Selection-Based Feature Selection Approach for the Classification of Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(10).
Autism disorder, generally known as Autism Spectrum Disorder (ASD) is a brain disorder characterized by lack of communication skills, social aloofness and repetitions in the actions in the patients, which is affecting millions of the people across the globe. Accurate identification of autistic patients is considered a challenging task in the domain of brain disorder science. To address this problem, we have proposed a three-stage feature selection approach for the classification of ASD on the preprocessed Autism Brain Imaging Data Exchange (ABIDE) rs-fMRI Dataset. In the first stage, a large neural network which we call a « Teacher » was trained on the correlation-based connectivity matrix to learn the latent representation of the input. In the second stage an autoencoder which we call a « Student » autoencoder was given the task to learn those trained « Teacher » embeddings using the connectivity matrix input. Lastly, an SFFS-based algorithm was employed to select the subset of most discriminating features between the autistic and healthy controls. On the combined site data across 17 sites, we achieved the maximum 10-fold accuracy of 82% and for the individual site-wise data, based on 5-fold accuracy, our results outperformed other state of the art methods in 13 out of the total 17 site-wise comparisons.
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12. Kildahl AN, Oddli HW, Helverschou SB. {{Potentially traumatic experiences and behavioural symptoms in adults with autism and intellectual disability referred for psychiatric assessment}}. {Res Dev Disabil}. 2020; 107: 103788.
BACKGROUND: Individuals with autism spectrum disorder (ASD) and intellectual disability (ID) more frequently experience potentially traumatic events (PTEs), and may be more vulnerable to trauma-related symptoms. However, it is unclear how such symptoms are captured on tools used for behavioural and psychiatric assessment in this population. AIMS: To explore whether and how PTEs are associated with symptom reports in adults with ASD and ID. METHODS AND PROCEDURES: Associations and group differences for death of a close relative and serious disease/injury in a close relative/caregiver/friend were explored in a clinical sample of 171 adults with ASD and ID referred for psychiatric assessment. Symptoms were measured using Aberrant Behavior Checklist (ABC) and Psychopathology in Autism Checklist (PAC). OUTCOMES AND RESULTS: Disease/injury was associated with higher scores on ABC irritability, ABC hyperactivity and self-injurious behaviour. Death was associated with lower scores on ABC lethargy and ABC stereotypic behaviour. Some associations reached significance only when controlling for ASD, ID, or verbal language skills, but the identified associations were not robust. No associations were found for PAC. CONCLUSIONS AND IMPLICATIONS: There is a risk of under-appreciating the impact of PTEs in this population unless ASD, ID and verbal language skills are taken into account.
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13. Koukouriki E, Soulis SG, Andreoulakis E. {{Depressive symptoms of autism spectrum disorder children’s siblings in Greece: Associations with parental anxiety and social support}}. {Autism}. 2020: 1362361320966847.
Typically developing siblings of children with autism spectrum disorders are often found to exhibit elevated levels of stress and depressive symptoms compared to siblings of typically developing children or siblings of children with other disabilities. Besides the behavioral problems of the child with autism and certain demographic characteristics that have been recognized as factors associated with typically developing siblings’ psychological distress, the role of parental mental health and the social support from the family has not been studied sufficiently. The goal of this study is to assess depressive symptoms in 85 Greek school-aged typically developing siblings of children with autism and to investigate for any associations between siblings’ depressive symptoms on one hand and demographics, parental mental health, and perceived social support on the other hand. It was found that typically developing siblings had higher levels of depressive symptoms compared to children from a general population sample. In addition, parental anxiety and social support from the family as perceived by the parents themselves were identified as independently associated with typically developing siblings’ depressive symptoms. Of note, perceived social support failed to attenuate the association between parental anxiety and siblings’ depressive symptoms. These results highlight the importance of assessing both parental and typically developing siblings’ psychological state to implement interventions addressed to the needs of all family members.
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14. Kraan CM, Baker EK, Arpone M, Bui M, Ling L, Gamage D, Bretherton L, Rogers C, Field MJ, Wotton TL, Francis D, Hunter MF, Cohen J, Amor DJ, Godler DE. {{DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome}}. {International journal of molecular sciences}. 2020; 21(20).
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis and the EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) and newly created dried blood spots (DBS) from 65 children with FXS (~2-17 years). A further 168 NBS from infants from the general population were used to establish control reference ranges, in both sexes. FREE2m analysis showed sensitivity and specificity approaching 100%. In FXS males, NBS FREE2m strongly correlated with intellectual functioning and autism features, however associations were not as strong for FXS females. Fragile X mental retardation 1 gene (FMR1) mRNA levels in blood were correlated with FREE2m in both NBS and DBS, for both sexes. In females, DNAm was significantly increased at birth with a decrease in childhood. The findings support the use of FREE2m analysis in newborns for screening, diagnostic and prognostic testing in FXS.
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15. Lui M, Li X, Sommer W, Hildebrandt A, Lau GK, Zhou C. {{Sex differences in behavioral and brain responses to incongruity in emotional speech controlling for autistic traits}}. {Biological psychology}. 2020: 107973.
Accurate interpretation of speech requires the integration of verbal and nonverbal signals. This study investigated sex differences in behavior and neural activities associated with the integration of semantic content and emotional speech prosody, while the level of autistic traits was controlled for. Adults listened to Cantonese words spoken with happy and sad prosody, and made judgments on semantic valence while event-related potentials (ERP) were recorded. Behaviorally, men were slower than women in making semantic valence judgments. At the neural level, men had a greater congruity effect in the N400 component, whereas women had a greater congruity effect in the 1150-1300 ms time window for happy prosodies. There was no effect of sex in case of sad prosodies. Our study reveals novel findings on sex differences in the timing of the integration between verbal and non-verbal signals that cannot be explained by differences in autistic traits.
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16. Manning J, Billian J, Matson J, Allen C, Soares N. {{Perceptions of Families of Individuals with Autism Spectrum Disorder during the COVID-19 Crisis}}. {J Autism Dev Disord}. 2020: 1-9.
Caring for an individual with autism spectrum disorder (ASD) in ideal circumstances can be stressful, and the Coronavirus disease (COVID-19) pandemic created a high degree of disruption to life and stress to families living with an individual with ASD. We conducted an online survey of families in Michigan that revealed higher levels of stress in caregivers of younger individuals with ASD and those with greater severity of ASD symptoms. Stress around therapeutic service disruption, finances, and illness predominated and greater stress was reported for caregivers of individuals receiving greater intensity of services pre-COVID-19. Respondents voiced concerns about receiving respite care during COVID-19, and those expressing interest in respite also reported greater symptom severity in the person with ASD.
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17. Markiewicz K, Kaczmarek BLJ, Filipiak S. {{Mediating Effect of Emotional and Social Competences on Interrelations Between Gender, Age and the Broad Autism Phenotype}}. {J Autism Dev Disord}. 2020.
The study aimed to identify the mediating role of emotional intelligence and social competences in the relationship between gender and broad autism phenotype (BAP) as well as between age and BAP. It comprised 85 parents of children with ASD. They completed the questionnaires of Autism-Spectrum Quotient, social competences, and emotional intelligence. The results revealed that emotional intelligence in general and its two dimensions: the ability to accept and express emotions and to empathize are important mediators of the relationship between gender and BAP. Also, social competences in general and two of their dimensions: the effectiveness of behavior in intimate situations and in social situations were significant mediators. The relationship between age and BAP could not be confirmed.
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18. Marton-Alper IZ, Gvirts-Provolovski HZ, Nevat M, Karklinsky M, Shamay-Tsoory SG. {{Herding in human groups is related to high autistic traits}}. {Sci Rep}. 2020; 10(1): 17957.
Herding is ubiquitous throughout all social life forms, providing beneficial outcomes. Here, we examine whether herding emerges spontaneously in human groups and whether it adheres to the core principles of herding observed in the animal kingdom. Using a computerized paradigm involving the movements of circles, we tested the emergence of spontaneous and intentional herding of 136 participants assigned into groups of four participants. Herding was assessed by measuring directional synchrony in the movements of the circles, level of cohesion, and separation between circles. We found that human groups tend to spontaneously herd, particularly in terms of directional synchrony, supporting the notion of a human herding instinct. We further asked whether individuals with high traits of Autism Spectrum Disorder (ASD) exhibit differences in their herding tendencies. Results indicated that individuals with high ASD traits showed greater social separation from the group, compared to individuals with low ASD traits. Moreover, we found diminished spontaneous synchrony, but intact instructed synchrony in the high vs. the low ASD traits group. We contend that humans spontaneously herd with their group and suggest that the spontaneous tendency to synchronize with others is diminished in individuals with high ASD traits, though it is recovered when synchronization is intentional.
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19. Mitroulaki S, Serdari A, Tripsianis G, Gundelfinger R, Arvaniti A, Vorvolakos T, Samakouri M. {{First Alarm and Time of Diagnosis in Autism Spectrum Disorders}}. {Comprehensive child and adolescent nursing}. 2020: 1-17.
Early diagnosis of autism spectrum disorder (ASD) is of paramount importance as it opens the road to early intervention, which is associated with better prognosis. However, early diagnosis is often delayed until preschool or school age. The purpose of the current retrospective study was to explore the age of recognition of first alarming symptoms in boys and girls as well as the age at diagnosis of different subtypes of ASD in a small sample. A total of 128 parents’ of children with ASDs were participated in the survey by completing a self-report questionnaire about early signs and symptoms that raised their concern. Parents of children with autism voiced concerns earlier and obtained diagnosis significantly earlier compared to parents of children with Asperger syndrome (p value <0.000). No significant difference (p value<0.05) has been detected between males and females in early manifestation of first signs and symptoms of ASD. The mean age at diagnosis was 3.8 years for autistic disorder, 6.2 years for children with Asperger syndrome and 6.4 years for other, e.g., PDD-NOS. The most commonly reported symptoms were speech and language problems (p value = 0.001) for children who were later diagnosed with autism, while behavior problems (p value = 0.046) as well as difficulties in education at school (p value = 0.013) for children with Asperger syndrome. The gap between early identification and diagnosis pinpoints the urgent need for national systematic early screening, the development of reliable and sensitive diagnostic instruments for infants and toddlers and heightened awareness of early signs of ASD among parents, teachers, and healthcare professionals and providers as well. Lien vers le texte intégral (Open Access ou abonnement)
20. Mukherjee SB. {{Identification, Evaluation, and Management of Children With Autism Spectrum Disorder: American Academy of Pediatrics 2020 Clinical Guidelines}}. {Indian pediatrics}. 2020; 57(10): 959-62.
The American Academy of Pediatrics recently published clinical guidelines for evaluation and management of children and adolescents with Autism Spectrum Disorder (ASD), nearly 12 years after the previous version. This article outlines salient features, highlights significant differences from the 2007 version, and discusses implications for Indian professionals dealing with affected families.
21. Saint-Georges C, Pagnier M, Ghattassi Z, Hubert-Barthelemy A, Tanet A, Clément MN, Soumille F, Crespin GC, Pellerin H, Cohen D. {{A developmental and sequenced one-to-one educational intervention (DS1-EI) for autism spectrum disorder and intellectual disability: A three-year randomized, single-blind controlled trial}}. {EClinicalMedicine}. 2020; 26: 100537.
BACKGROUND: Children with autism spectrum disorder (ASD) and intellectual disability (ID) are an understudied population whose school inclusion is challenging. METHODS: We assessed the effects of « Developmental and Sequenced one-to-one Educational Intervention » (DS1-EI), a ten-hour-per-week adapted instruction programme for five- to nine-year-old children with ASD and ID treated in outpatient health care institutions. A single-blind multisite randomized controlled trial was conducted to compare DS1-EI given for three years with treatment as usual (TAU)(trial registration numbers: ANSM130282B-31 (April 16, 2013) and ACTRN12616000592448). The primary outcome was the change in the psycho-educational profile (PEP). Secondary variables included the Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behaviour Scale-II (VABS-II), Children’s Global Assessment Scale (CGAS) and annual assessment of educational achievement. Statistical analyses used linear mixed models. FINDINGS: Seventy-two participants with severe ASD and ID were recruited. Intention-to-treat and per-protocol analyses showed no significant group*time interaction for the PEP, CARS, ADI-R, VABS-II and CGAS but a significant effect for educational achievement with a better improvement in the DS1-EI group. At the 36-month time point, more DS1-EI children were included in mainstream classrooms. Additional analyses using multivariate models taking into account moderating variables at the baseline (e.g., Developmental Quotient) confirmed that DS1-EI had a significant effect on educational outcomes. INTERPRETATION: DS1-EI did not improve communication or social skills in children with ASD and ID compared with TAU. However, DS1-EI enhanced school skills in four domains (language, mathematics, inter modality, and school autonomy) favouring inclusion in mainstream classrooms more than TAU. Providing such adapted instruction is feasible and should be encouraged. FUNDING: CNSA; Fondation Bettencourt-Schueller; Fondation EDF.
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22. Sato W, Uono S, Kochiyama T. {{Neurocognitive Mechanisms Underlying Social Atypicalities in Autism: Weak Amygdala’s Emotional Modulation Hypothesis}}. {Frontiers in psychiatry}. 2020; 11: 864.
Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with atypicalities in social interaction. Although psychological and neuroimaging studies have revealed divergent impairments in psychological processes (e.g., emotion and perception) and neural activity (e.g., amygdala, superior temporal sulcus, and inferior frontal gyrus) related to the processing of social stimuli, it remains difficult to integrate these findings. In an effort to resolve this issue, we review our psychological and functional magnetic resonance imaging (fMRI) findings and present a hypothetical neurocognitive model. Our psychological study showed that emotional modulation of reflexive joint attention is impaired in individuals with ASD. Our fMRI study showed that modulation from the amygdala to the neocortex during observation of dynamic facial expressions is reduced in the ASD group. Based on these findings and other evidence, we hypothesize that weak modulation from the amygdala to the neocortex-through which emotion rapidly modulates various types of perceptual, cognitive, and motor processing functions-underlies the social atypicalities in individuals with ASD.
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23. Subramaniam K, Prasad HK. {{An Unusual Case of Fragile X Associated Primary Ovarian Insufficiency}}. {Indian journal of endocrinology and metabolism}. 2020; 24(4): 373-4.
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24. Takahashi Y, Mikami K, Akama F, Onishi Y, Yamamoto K, Matsumoto H. {{Suicide Leap of an 11-Year-Old Girl with Autism Spectrum Disorder}}. {Global pediatric health}. 2020; 7: 2333794×20960278.
Autism Spectrum Disorder (ASD) has been linked with risk of suicide, and several cases of suicide attempts by adolescents with ASD have been reported. However, there is scant research on therapeutic approaches to prevent suicide re-attempts by children with ASD who have already attempted suicide. We report our experience of treating an 11-year-old girl with adjustment disorder comorbid with ASD who was transported to our hospital after sustaining injuries from the suicide leap. Initially, she was diagnosed with adjustment disorder brought on by poor interpersonal relationships at school, and, upon reviewing the patient’s personal history, her underlying ASD characteristics became apparent. To prevent a re-attempt, it was crucial to reduce her risk factors and enhance her protective factors. To reduce her risk factors, we manipulated the environmental factor that triggered the patient’s suicide attempt. In addition, to reinforce her protective factors, we intervened in the parent-child relationship and addressed her hesitation to ask for help, which we identified as a predisposing factor since early childhood. Over the course of her treatment, she did not exhibit suicidal ideation or re-attempt suicide.
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25. Thomas HR, Rooney T, Cohen M, Bishop SL, Lord C, Kim SH. {{Spontaneous Expressive Language Profiles in a Clinically Ascertained Sample of Children With Autism Spectrum Disorder}}. {Autism Res}. 2020.
Children with autism spectrum disorder (ASD) have varying degrees of language impairment across multiple domains, which may include deficits in syntactic, pragmatic, and/or semantic skills. The heterogeneity of language profiles within ASD, coupled with the limited scope of existing standardized language measures, makes a comprehensive assessment of language impairments in ASD challenging. The Observation of Spontaneous Expressive Language (OSEL) is a new measure developed to capture children’s spontaneous use of language in a naturalistic setting. The current study used the OSEL to examine the patterns of spontaneous expressive language abilities of 87 clinically ascertained children with ASD from 2 to 12 years. As expected, children with ASD were significantly more impaired in their spontaneous use of language compared to typically developing peers. Syntax and narrative skills continued to increase with age from toddler to elementary school years in cross-sectional comparisons. Pragmatic skills improved form toddler to preschool years but remained stable from preschool to elementary school years. Preliminary data also demonstrated significant improvements in OSEL syntax scores over time for a subset of children followed longitudinally (n = 8). Children with ASD consistently showed more impairments in spontaneous expressive language captured on the OSEL compared to language skills measured by other more structured standardized assessments, despite moderate convergent validity among those measures. Results suggest that impairments in the spontaneous and functional use of expressive language persist into middle childhood for many children with ASD, and a comprehensive assessment approach can lead to more precisely targeted treatment addressing specific language profiles. LAY SUMMARY: This study aimed to examine the variable language profiles in children with ASD. Children with ASD were shown to have impairments in the structure, meaning, and social use of language. These challenges were captured best by a measure that was created to assess the spontaneous use of language in a naturalistic environment. The results of this study emphasize the importance of a comprehensive assessment of language in ASD to inform treatment.
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26. Tortelli C, Turi M, Burr DC, Binda P. {{Pupillary Responses Obey Emmert’s Law and Co-vary with Autistic Traits}}. {J Autism Dev Disord}. 2020.
We measured the pupil response to a light stimulus subject to a size illusion and found that stimuli perceived as larger evoke a stronger pupillary response. The size illusion depends on combining retinal signals with contextual 3D information; contextual processing is thought to vary across individuals, being weaker in individuals with stronger autistic traits. Consistent with this theory, autistic traits correlated negatively with the magnitude of pupil modulations in our sample of neurotypical adults; however, psychophysical measurements of the illusion did not correlate with autistic traits, or with the pupil modulations. This shows that pupillometry provides an accurate objective index of complex perceptual processes, particularly useful for quantifying interindividual differences, and potentially more informative than standard psychophysical measures.
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27. Wang H, Hu X, Han ZR. {{Parental stress, involvement, and family quality of life in mothers and fathers of children with autism spectrum disorder in mainland China: A dyadic analysis}}. {Res Dev Disabil}. 2020; 107: 103791.
BACKGROUND: Research shows that parents of children with autism spectrum disorder (ASD) are burdened with childcare responsibilities and at increased risk for elevated stress and poor family quality of life (FQOL). Little is known, however, about the dynamic interactions between mothers’ and fathers’ perceived parenting stress in relating to parental involvement and FQOL, especially in the Chinese cultural context. AIMS: This study examined the intrapersonal and interpersonal effects of parenting stress on parental involvement and FQOL for families of children with ASD in mainland China. METHOD: A total of 210 Chinese couples (total N = 420) completed measures of caregiving involvement, perceived parenting stress, and FQOL. The Actor-Partner Interdependence Mediation Model (APIMeM) was employed to examine the dyadic relationships among the variables. RESULTS: Both parents’ parenting stress was negatively associated with their own involvement and FQOL. Moreover, fathers’ parenting stress was indirectly related to mothers’ perceptions of FQOL through their involvement in the care of their child with ASD. CONCLUSIONS: The findings highlight the important roles of fathers’ parenting stress and involvement in affecting their own and their partners’ satisfaction with FQOL within Chinese families raising a child with ASD.
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28. Wiklund M, Laakso M. {{Comparison of Disfluent and Ungrammatical Speech of Preadolescents with and without ASD}}. {J Autism Dev Disord}. 2020.
This paper analyses disfluencies and ungrammatical expressions in the speech of 11-13-year-old Finnish-speaking boys with ASD (N = 5) and with neurotypical development (N = 6). The ASD data were from authentic group therapy sessions and neurotypical data from teacher-led group discussions. The proportion of disfluencies and ungrammatical expressions was greater in the speech of participants with ASD (26.4%) than in the control group (15.5%). Furthermore, a qualitative difference was noted: The ASD group produced long, complex disfluent turns with word searches, self-repairs, false starts, fillers, prolongations, inconsistent syntactic structures and grammatical errors, whereas in the control group, the disfluencies were mainly fillers and sound prolongations. The disfluencies and ungrammatical expressions occurring in the ASD participants’ interactions also caused comprehension problems.
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29. Winkler M, Biswas S, Berger SM, Küchler M, Preisendörfer L, Choo M, Früh S, Rem PD, Enkel T, Arnold B, Komljenovic D, Sticht C, Goerdt S, Bettler B, von Bohlen Und Halbach O, Bartsch D, Géraud C. {{Autism-like behavior in Pianp-deficient mice is associated with decreased neuronal Erdr1 expression and altered GABA(B) receptor signaling}}. {Mol Psychiatry}. 2020; 25(11): 2645.
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30. Zhang M, Chu Y, Meng Q, Ding R, Shi X, Wang Z, He Y, Zhang J, Liu J, Zhang J, Yu J, Kang Y, Wang J. {{A quasi-paired cohort strategy reveals the impaired detoxifying function of microbes in the gut of autistic children}}. {Science advances}. 2020; 6(43).
Growing evidence suggests that autism spectrum disorder (ASD) is strongly associated with dysbiosis in the gut microbiome, with the exact mechanisms still unclear. We have proposed a novel analytic strategy-quasi-paired cohort-and applied it to a metagenomic study of the ASD microbiome. By comparing paired samples of ASD and neurotypical subjects, we have identified significant deficiencies in ASD children in detoxifying enzymes and pathways, which show a strong correlation with biomarkers of mitochondrial dysfunction. Diagnostic models based on these detoxifying enzymes accurately distinguished ASD individuals from controls, and the dysfunction score inferred from the model increased with the clinical rating scores of ASD. In summary, our results suggest a previously undiscovered potential role of impaired intestinal microbial detoxification in toxin accumulation and mitochondrial dysfunction, a core component of ASD pathogenesis. These findings pave the way for designing future therapeutic strategies to restore microbial detoxification capabilities for patients with ASD.
