1. Afsharnejad B, Falkmer M, Black MH, Alach T, Lenhard F, Fridell A, Coco C, Milne K, Chen NTM, Bolte S, Girdler S. {{KONTAKT(c) for Australian adolescents on the autism spectrum: protocol of a randomized control trial}}. {Trials}. 2019; 20(1): 687.
BACKGROUND: Individuals diagnosed with autism spectrum disorder (ASD) experience impairing challenges in social communication and interaction across multiple contexts. While social skills group training (SSGT) has shown moderate effects on various sociability outcomes in ASD, there is a need for (1) replication of effects in additional clinical and cultural contexts, (2) designs that employ active control groups, (3) calculation of health economic benefits, (4) identification of the optimal training duration, and (5) measurement of individual goals and quality of life outcomes. METHOD/DESIGN: With the aim of investigating the efficacy and cost-effectiveness of a SSGT, KONTAKT(c), a two-armed randomized control trial with adolescents aged 12-17 years (N = 90) with ASD and an intelligence quotient (IQ) of over 70 will be undertaken. Following stratification for centre and gender, participants will be randomly assigned to either KONTAKT(c) or to an active control group, a group-based cooking programme. Participants will attend both programmes in groups of 6-8 adolescents, over 16 one-and-a-half-hour sessions. The primary outcome examined is adolescent self-rated achievement of personally meaningful social goals as assessed via the Goal Attainment Scaling during an interview with a blinded clinician. Secondary outcomes include adolescent self-reported interpersonal efficacy, quality of life, social anxiety, loneliness, face emotion recognition performance and associated gaze behaviour, and parent proxy reports of autistic traits, quality of life, social functioning, and emotion recognition and expression. Cost-effectiveness will be investigated in relation to direct and indirect societal and healthcare costs. DISCUSSION: The primary outcomes of this study will be evidenced in the anticipated achievement of adolescents’ personally meaningful social goals following participation in KONTAKT(c) as compared to the active control group. This design will enable rigorous evaluation of the efficacy of KONTAKT(c), exercising control over the possibly confounding effect of exposure to a social context of peers with a diagnosis of ASD. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12617001117303. Registered on 31 July 2017. anzctr.org.au ClinicalTrials.gov, NCT03294668. Registered on 22 September 2017. https://clinicaltrials.gov.
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2. Ames JL, Windham GC, Lyall K, Pearl M, Kharrazi M, Yoshida CK, Van de Water J, Ashwood P, Croen LA. {{Neonatal Thyroid Stimulating Hormone and Subsequent Diagnosis of Autism Spectrum Disorders and Intellectual Disability}}. {Autism Res}. 2019.
Hypothyroid conditions in early life, if left untreated, are associated with adverse neurodevelopmental outcomes, including intellectual disability (ID). However, evidence addressing the role of neonatal thyroid hormone insufficiencies in the altered neurobiology underlying autism spectrum disorders (ASD), particularly among its subphenotypes, is limited. We conducted a population-based, case-control study among a sample of children born during 2000-2003 in Southern California. We examined neonatal thyroid-stimulating hormone (TSH) measured during routine newborn screening among children later diagnosed with ASD (n = 518) or ID (n = 145) and general population (GP) controls (n = 399). TSH was further analyzed in relation to ASD subgroups of intellectual ability and onset type (early-onset ASD vs. ASD with regression) ascertained by expert review of developmental services records. Odds ratios (ORs) of the differences in TSH between groups were obtained from multivariate logistic regression. We examined neonatal TSH as continuous (ln-transformed) and as quartiles. We found no association between continuous neonatal TSH levels and ASD (adj-OR: 1.00, 95% CI: 0.79-1.26) nor ID (adj-OR = 1.01, 95% CI: 0.73-1.40). Among ASD subphenotypes, we observed a suggestive inverse trend between ASD with regression and TSH, though the association only reached statistical significance in the highest TSH quartile (adj-OR: 0.50, 95% CI: 0.26-0.98). While there was little evidence that neonatal TSH is related to overall ASD risk, more work is needed to understand the influence of thyroid hormones on ASD subphenotypes. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Low levels of thyroid hormone at birth can negatively impact brain development. We studied whether newborn levels of thyroid stimulating hormone (TSH) were associated with autism spectrum disorder (ASD) and its subtypes in a sample of children born in California. Newborn TSH was not related to the overall risk of ASD or intellectual disability. However, the relationships of thyroid hormone levels at birth and specific subtypes of ASD, particularly ASD with developmental regression, may need more research.
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3. Arabi M, Saberi Kakhki A, Sohrabi M, Soltani Kouhbanani S, Jabbari Nooghabi M. {{Is visuomotor training an effective intervention for children with autism spectrum disorders?}}. {Neuropsychiatr Dis Treat}. 2019; 15: 3089-102.
Purpose: Investigation of autism spectrum disorder (ASD) is somewhat dependent on addressing main core features of ASD. But it is not clear which kind of investigation can effect on more difficulties features. So, this study examines the effect of the visuomotor, motor, and computer-based training programs on social behavior, motor skills, and repetitive behaviors of children with ASD. Patients and methods: Sixty children with ASD aged 6-12 years were recruited and assigned to one of the three experimental groups and the control group (each group n=15). Training was provided in 30 sessions, scheduled 3 times a week. Social behavior and repetitive behaviors were determined objectively using the observation method, and motor skills were evaluated by the Test of Gross Motor Development-2. Results: Our results suggested that children in the visuomotor group showed a significant reduction in the repetitive behaviors and an increase in gross motor skill scores in the post-test and follow-up. Also, the results exhibited that motor training group significantly improved in social behavior either in the post-test or follow-up. Although the post-test illustrated a considerable improvement of gross motor skills, this difference was not significant in follow-up. Similarly, no significant change was observed in visual training and control groups in relation to study variables. Conclusion: Given the improvement of repetitive behaviors and gross motor skills in post-test and follow-up, it seems that this investigation had a positive effect with a good retention effect on two core features of children with ASD. But according to group-based training protocol in motor training group and improvement in social communication, and mutual effect on gross motor skills, it seems that group-based practice can also be used to achieve the benefits of social communication in the investigations.
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4. Chlebowski C, Hurwich-Reiss E, Wright B, Brookman-Frazee L. {{Using stakeholder perspectives to guide systematic adaptation of an autism mental health intervention for Latinx families: A qualitative study}}. {Journal of community psychology}. 2019.
Embedded within a Hybrid Type 1 randomized effectiveness-implementation trial in publicly funded mental health services, the current study identified stakeholder recommendations to inform cultural adaptations to An Individualized Mental Health Intervention for Autism Spectrum Disorder (AIM HI) for Latinx and Spanish-speaking families. Recommendations were collected through focus groups with therapists (n = 17) and semi-structured interviews with Latinx parents (n = 29). Relevant themes were identified through a rapid assessment analysis process and thematic coding of interviews. Adaptations were classified according to the Framework for Reporting Adaptations and Modifications-Enhanced (FRAME) to facilitate fit, acceptability, and sustained implementation of AIM HI and classify the content, nature, and goals of the adaptations. Recommended adaptations were classified through FRAME as tailoring training and intervention materials, changing packaging or materials, extending intervention pacing, and integrating supplemental training strategies. Goals for adaptations included improving fit for stakeholders, increasing parent engagement, and enhancing intervention effectiveness. The current study illustrates the process of embedding an iterative process of intervention adaptation within a hybrid effectiveness-implementation trial. The next steps in this study are to integrate findings with implementation process data from the parent trial to develop a cultural enhancement to AIM HI and test the enhancement in a Hybrid Type 3 implementation-effectiveness trial.
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5. Dean DC, 3rd, Freeman A, Lainhart J. {{The development of the social brain in baby siblings of children with autism}}. {Curr Opin Psychiatry}. 2019.
PURPOSE OF REVIEW: Impairments in social interaction/communication become apparent after 12 months of age in children who develop Autism spectrum disorder (ASD). Studies of baby siblings of children with ASD provide the means to detect changes in the brain that are present before behavioral symptoms appear. In this review, advances from brain imaging studies of infant siblings over the past 18 months are highlighted. RECENT FINDINGS: During the first 2 months of life, functional differences in social brain regions and microstructural differences in dorsal language tracks are found in some high-risk baby siblings. At 4-6 months of age, differences in subcortical and cerebellum volumes and atypical cortical responses to social stimuli are evident. At 6 months, extra-axial cerebrospinal fluid is increased, and at 8 months there is evidence of cortical hyper-reactivity. Patterns of functional connectivity are distinct in infant siblings and suggest dysfunctional activation and integration of information across the cortex and neural networks underlying social behaviors. SUMMARY: Further replication in very large independent samples is needed to verify the majority of the findings discussed and understand how they are related within individual infants. Much more research is needed before translation to clinical practice.
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6. Delobel-Ayoub M, Saemundsen E, Gissler M, Ego A, Moilanen I, Ebeling H, Rafnsson V, Klapouszczak D, Thorsteinsson E, Arnaldsdottir KM, Roge B, Arnaud C, Schendel D. {{Prevalence of Autism Spectrum Disorder in 7-9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Based Registries Approach Within the ASDEU Project}}. {J Autism Dev Disord}. 2019.
We estimated autism spectrum disorder (ASD) prevalence in 7-9 year-old children in 2015 using data from three nationwide health registry systems (Denmark, Finland, Iceland) and two French population-based regional registries. Prevalence ranged from 0.48% in South-East France to 3.13% in Iceland (South-West France: 0.73%, Finland: 0.77%, Denmark: 1.26%). Male/female ratios ranged from 3.3 in Finland to 5.4 in South-West France. Between 12% (Denmark) and 39% (South-West France) of cases were diagnosed with intellectual disability. The variations in population-based ASD prevalence across four European countries with universal health care practices likely reflect variation in detection, referral and diagnosis practices and autism awareness across these areas. Using established population-based data systems is an efficient approach to monitor ASD prevalence trends over time.
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7. Epstein S, Elefant C, Thompson G. {{Music Therapists’ Perceptions of the Therapeutic Potentials Using Music When Working With Verbal Children on the Autism Spectrum: A Qualitative Analysis}}. {Journal of music therapy}. 2019.
While there are numerous descriptions of the use of music and its therapeutic potential by music therapists working with nonverbal children on the autism spectrum, only limited literature focuses on exploring how music therapists use music and perceive its therapeutic potential when working with children on the spectrum who have verbal skills. This qualitative study aimed to explore music therapists’ descriptions of the use of music and its therapeutic potential in their work with children on the autism spectrum who have verbal skills. Semi-structured interviews were conducted with six qualified music therapists from Israel and then analyzed according to the principles of interpretative phenomenological analysis (IPA). Three main themes were identified: (a) musical infrastructure, which describes how the music therapists facilitated musical experiences to support the children’s ability to regulate their arousal, attention and emotions; (b) the meeting point between musical and verbal playfulness, which reflects the music therapists’ beliefs about how musical experiences add vitality and support the development of both verbal and nonverbal imaginative play; and (c) musical responses, which describes the different ways music therapists use their voice and songs to interact musically with verbal children. The experiences described by the participants emphasize the importance of the therapist musically attuning to the child’s emotional, physiological, creative, and playful qualities, even when the child has verbal skills. These musical interactions help to create a shared experience between the child and therapist that are perceived to help the child’s different forms of regulation, continuity, and vitality within the play.
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8. Gollwitzer A, Martel C, McPartland JC, Bargh JA. {{Reply to Taylor et al.: Acknowledging the multidimensionality of autism when predicting social psychological skill}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2019.
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9. Gonzalez-Domenech PJ, Diaz Atienza F, Garcia Pablos C, Fernandez Soto ML, Martinez-Ortega JM, Gutierrez-Rojas L. {{Influence of a Combined Gluten-Free and Casein-Free Diet on Behavior Disorders in Children and Adolescents Diagnosed with Autism Spectrum Disorder: A 12-Month Follow-Up Clinical Trial}}. {J Autism Dev Disord}. 2019.
The use of alternative interventions, such as gluten-free and casein-free (GFCF) diets, is frequent due to limited therapies for Autism Spectrum Disorder (ASD). Our aims were to determine the influence of a GFCF diet on behavior disorders in children and adolescents diagnosed with ASD and the potential association with urinary beta-casomorphin concentrations. Thirty-seven patients were recruited for this crossover trial. Each patient consumed a normal diet (including gluten and casein) for 6 months and a GFCF diet for another 6 months. The order of the intervention (beginning with normal diet or with GFCF diet) was assigned randomly. Patients were evaluated at three time-points (at the beginning of the study, after normal diet and after GFCF diet). Questionnaires regarding behavior and autism and dietary adherence were completed and urinary beta-casomorphin concentrations were determined at each time-point. No significant behavioral changes and no association with urinary beta-casomorphin concentrations were found after GFCF diet. A 6-month GFCF diet do not induce significant changes in behavioral symptoms of autism and urinary beta-casomorphin concentrations. Further studies with a long follow-up period similar to ours and including placebo and blinding elements are needed to identify better those respondents to GFCF diets.
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10. Johnson HL. {{The promise of autism genetics: Still waiting}}. {Journal of the American Association of Nurse Practitioners}. 2019; 31(12): 687-9.
The condition presently known as autism spectrum disorder was first described in the literature nearly 80 years ago. Since then, the research community has mounted a quest to discover the etiology of the condition in hopes of discovering prevention, treatment, and cures for this developmental disorder. The field of autism genetics has made progress in understanding what genes are and what are not associated with autism. This article provides a brief overview of the evolution of autism genetics and describes the current state of science in realizing genetically informed prevention and treatments.
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11. Kana RK, Hudac CM, White SW. {{Developmental Considerations of Comorbidity in Autism Spectrum Disorder: The Need for Science Across Multiple Units of Analysis}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2019; 4(12): 1016-7.
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12. Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S. {{A Novel de novoKIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, And Spastic Paraplegia}}. {Internal medicine (Tokyo, Japan)}. 2019.
Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in KIF1A (c.37C>T [p.R13C]). Autism and hyperactivity have only previously been reported in a patient with c.38 G>A (R13H) mutation. This case suggests that alterations in this arginine at codon 13 might lead to a common clinical spectrum and further expand the genetic and clinical spectra associated with KIF1A mutations.
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13. Lai MC, Szatmari P. {{Sex and gender impacts on the behavioural presentation and recognition of autism}}. {Curr Opin Psychiatry}. 2019.
PURPOSE OF REVIEW: With increasing awareness of potential differences of autism presentation in nonmale versus male individuals, this review summarizes the rapidly evolving literature on sex and gender impacts on autism across nosology, behavioural presentation, developmental change and contextual recognition biases. RECENT FINDINGS: Most studies have not differentiated sex versus gender impacts. Regarding behavioural presentation, measurement invariance across sex/gender was found in several standard measures. On this basis, diagnosed females overall showed lower restricted/repetitive behaviour/interests/activities (RRBI) than males, with small and variable effects depending on age, developmental level and kinds of RRBI. Differences insufficiently captured by standard measures may include autistic females displaying female-gender-typical narrow interests, higher social attention, linguistic abilities, motivation for friendship and more camouflaging than autistic males. Regarding developmental change, diagnosed young girls were more likely to have better cognitive development, less intense autistic symptoms and reduction of symptoms over time. Difficulties in adaptive functioning and social challenges, however, may emerge more for females in adolescence. Regarding diagnosis, general expectancy biases and gender-stereotypes may impede timely recognition of autism in females. SUMMARY: Appreciating the multilevel sex and gender impacts on presentation, development, and diagnosis is key to sex-equitable and gender-equitable care for autistic individuals. A holistic approach to understanding the person in the contexts of sex and gender is essential for timely and accurate diagnosis and support.
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14. Miller DE, Squire A, Bennett JT. {{A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing}}. {Am J Med Genet A}. 2019.
We describe a 5-year-old male with developmental delay, behavioral problems, and dysmorphic features who was found by microarray to have a 93-kb duplication of uncertain significance that fully encompasses the third exon of CTNND2 (delta catenin). Mate-pair sequencing was used to determine that the duplication is tandem and is predicted to lead to CTNND2 haploinsufficiency. Haploinsufficiency for CTNND2 has been shown to result in developmental delay and intellectual disability, providing a unifying diagnosis for this patient. His features overlap those associated with the larger cri-du-chat deletion of this region, expanding the clinical phenotype of isolated CTNND2 variants. The use of mate-pair sequencing to determine the orientation of the small duplication was essential to the diagnosis and avoided the use of exome sequencing, which would not have defined the arrangement of the duplication. This is only the second reported patient, to our knowledge, with a single exon duplication of CTNND2.
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15. Paynter J, Luskin-Saxby S, Keen D, Fordyce K, Frost G, Imms C, Miller S, Sutherland R, Trembath D, Tucker M, Ecker U. {{Brief Report: Perceived Evidence and Use of Autism Intervention Strategies in Early Intervention Providers}}. {J Autism Dev Disord}. 2019.
Use of empirically unsupported practices is a challenge in the field of autism spectrum disorder (ASD). We explored whether attitudes and perceived evidence were linked to intended practice use in early intervention staff. Seventy-one participants completed ratings of the evidence base, current and future use of six ASD intervention practices, and reported attitudes to research and evidence-based practice. Participants reported greater use and rated the evidence base higher for the empirically supported practices. However, variability in accuracy of evidence base ratings was observed across individuals. Higher perceived evidence was linked to greater future use intentions for empirically supported and unsupported practices. The need for accurate information across practice types is highlighted. Self-report methodology limitations and future research directions are discussed.
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16. Prieto M, Folci A, Martin S. {{Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction}}. {Mol Psychiatry}. 2019.
The Fragile X Mental Retardation Protein (FMRP) is an RNA-binding protein essential to the regulation of local translation at synapses. In the mammalian brain, synapses are constantly formed and eliminated throughout development to achieve functional neuronal networks. At the molecular level, thousands of proteins cooperate to accomplish efficient neuronal communication. Therefore, synaptic protein levels and their functional interactions need to be tightly regulated. FMRP generally acts as a translational repressor of its mRNA targets. FMRP is the target of several post-translational modifications (PTMs) that dynamically regulate its function. Here we provide an overview of the PTMs controlling the FMRP function and discuss how their spatiotemporal interplay contributes to the physiological regulation of FMRP. Importantly, FMRP loss-of-function leads to Fragile X syndrome (FXS), a rare genetic developmental condition causing a range of neurological alterations including intellectual disability (ID), learning and memory impairments, autistic-like features and seizures. Here, we also explore the possibility that recently reported missense mutations in the FMR1 gene disrupt the PTM homoeostasis of FMRP, thus participating in the aetiology of FXS. This suggests that the pharmacological targeting of PTMs may be a promising strategy to develop innovative therapies for patients carrying such missense mutations.
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17. Ramirez-Celis A, Edmiston E, Schauer J, Vu T, Van de Water J. {{Peptides of neuron specific enolase as potential ASD biomarkers: from discovery to epitope mapping}}. {Brain, behavior, and immunity}. 2019.
Autism spectrum disorder (ASD) is an important health issue and affects 1 in 59 children in the US. Prior studies determined that maternal autoantibody related (MAR) autism is thought to be associated with approximately 23% of ASD cases. We previously identified seven MAR-specific autoantigens including CRMP1, CRMP2, GDA, LDHA, LDHB, STIP1, and YBX1. We subsequently described the epitope peptide sequences recognized by maternal autoantibodies for each of the seven ASD-specific autoantigens. The aim of the current study was to expand upon our previous work and identify additional antigens recognized by the ASD-specific maternal autoantibodies, as well as to map the unique ASD-specific epitopes using microarray technology. Fetal Rhesus macaque brain tissues were separated by molecular weight and a fraction containing bands between 37 and 45 kDa was analyzed using 2-D gel electrophoresis, followed by peptide mass mapping using MALDI-TOF MS and TOF/TOF tandem MS/MS. Using this methodology, Neuron specific enolase (NSE) was identified as a target autoantigen and selected for epitope mapping. The full NSE sequence was translated into 15-mer peptides with an overlap of 14 amino acids onto microarray slides and probed with maternal plasma from mothers with an ASD child and from mothers with a Typically Developing child (TD) (ASD= 27 and TD=21). The resulting data were analyzed by T-test. We found 16 ASD-specific NSE-peptide sequences for which four sequences were statistically significant (p<0.05) using both the t-test and SAM t-test: DVAASEFYRDGKYDL (p=0.047; SAM score 1.49), IEDPFDQDDWAAWSK (p=0.049; SAM score 1.49), ERLAKYNQLMRIEEE (p=0.045; SAM score 1.57), and RLAKYNQLMRIEEEL (p=0.017; SAM score 1.82). We further identified 5 sequences that were recognized by both ASD and TD antibodies suggesting a large immunodominant epitope (DYPVVSIEDPFDQDDWAAW). While maternal autoantibodies against the NSE protein are present both in mothers with ASD and mothers of TD children, there are several ASD-specific epitopes that can potentially be used as MAR ASD biomarkers. Further, studies including analysis of NSE as a target protein in combination with the previously identified MAR ASD autoantigens are currently underway. Lien vers le texte intégral (Open Access ou abonnement)
18. Scherrer B, Prohl AK, Taquet M, Kapur K, Peters JM, Tomas-Fernandez X, Davis PE, E MB, Krueger DA, Northrup H, J YW, Sahin M, Warfield SK. {{The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex}}. {Cereb Cortex}. 2019.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.
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19. Sokolowski MB. {{Functional testing of ASD-associated genes}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2019.
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20. Susac A. {{Neuromagnetic Measurements of Emotional Face Processing in Children With Autism Spectrum Disorder}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2019; 4(12): 1014-5.
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21. Takeguchi R, Takahashi S, Kuroda M, Tanaka R, Suzuki N, Tomonoh Y, Ihara Y, Sugiyama N, Itoh M. {{MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome}}. {Molecular genetics & genomic medicine}. 2019: e1088.
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X-linked MECP2 encoding the methyl-CpG-binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains unclear whether both MeCP2 isoforms have similar function in the brain. METHODS: We report a case of a boy with typical RTT. Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. Whole-exome sequencing was performed to search for the genetic background. RESULTS: A novel nonsense and mosaic variant was identified in exon 1 of MECP2, and the variant allele fraction (VAF) was 28%. Our patient had the same level of VAF as that in reported male cases with mosaic variants in MECP2 exon 3 or 4, but manifested RTT symptoms that were milder in severity compared to those in these patients. CONCLUSION: This is probably because the variants in MECP2 exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1.
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22. Taylor EC, Livingston LA, Callan MJ, Shah P. {{Divergent contributions of autistic traits to social psychological knowledge}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2019.
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23. Yamada T, Miura Y, Oi M, Akatsuka N, Tanaka K, Tsukidate N, Yamamoto T, Okuno H, Nakanishi M, Taniike M, Mohri I, Laugeson EA. {{Examining the Treatment Efficacy of PEERS in Japan: Improving Social Skills Among Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
This study examines the efficacy of the Japanese version of the Program for the Education and Enrichment of Relational Skills (PEERS), which focuses on improving social functioning through making friends and maintaining good relationships for adolescents with autism spectrum disorder (ASD) without intellectual disabilities. Originally developed in the United States, PEERS is one of the few evidence-based social skills training programs for youth with ASD. The present study shows that with linguistic and cultural modifications, PEERS is effective in improving social functioning for adolescents with ASD in Japan. Positive results were found specifically in the areas of socialization, communication, knowledge of social skills, autistic mannerisms, and behavioral and emotional problems. In addition, most treatment gains were maintained at a 3-month follow-up assessment. These findings suggest that the Japanese version of PEERS is beneficial across multiple socio-emotional and behavioral domains for adolescents with ASD.
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24. Zilli C, Parsons S, Kovshoff H. {{Keys to engagement: A case study exploring the participation of autistic pupils in educational decision-making at school}}. {The British journal of educational psychology}. 2019.
BACKGROUND: The UNCRC (1989) established the importance of listening to children’s views globally. In England, seeking the views of pupils with special educational needs and disability about their education, and involving them in decision-making, has been mandatory since 2015. Autistic children’s views and experiences are particularly underrepresented in this context. AIMS: To provide a detailed exploratory analysis of practices that enable autistic pupils to participate in educational decision-making, and to generate new knowledge about pupil participation in a school context, using the Framework for Participation (Black-Hawkins, 2010) as an analytical frame. SAMPLE: Four male pupils aged 11-15, with autism spectrum diagnoses, and 11 staff members from a specialist, independent school took part in this case study. METHODS: Observations were made of pupils in lessons, and pupils completed a photo-voice activity focusing on where they felt ‘most listened to’ in the school. Staff members participated in semi-structured interviews. RESULTS: A range of practices supported pupils’ participation in everyday decision-making, underpinned by a respectful and positive culture led by the senior management team. The focus was on what learners can do and how they make decisions to facilitate achievement. Pupils and staff developed mutually respectful relationships, within which boundaries were negotiated and compromises offered. Flexibility through decision-making was provided within the timetabling and content of the curriculum. Pupils’ special interests and expertise were valued as ‘keys’ to supporting their engagement. CONCLUSIONS: These insights provide a tool for reflection by educators and educational psychologists for considering how they might promote the participation of autistic pupils in different educational contexts.
