1. Conner CM, White SW, Beck KB, Golt J, Smith IC, Mazefsky CA. {{Improving emotion regulation ability in autism: The Emotional Awareness and Skills Enhancement (EASE) program}}. {Autism : the international journal of research and practice}. 2018: 1362361318810709.
Emotion regulation impairments are common among individuals with autism spectrum disorder and are believed to often underlie commonly seen problems with aggression, depression, and anxiety. The Emotional Awareness and Skills Enhancement program was developed to reduce emotion regulation impairment and thereby improve behavioral disturbance, via mindfulness. Emotional Awareness and Skills Enhancement consists of a 16-week individual therapy treatment targeting emotion regulation impairments among individuals with autism spectrum disorder. We describe the conceptual framework and development of the program and present data on feasibility and preliminary efficacy from a pilot trial. The Emotional Awareness and Skills Enhancement manual was developed using a participatory action framework, based on emotion regulation research specific to autism spectrum disorder and input from individuals with autism spectrum disorder, therapists, and parents of children with autism spectrum disorder. Emotional Awareness and Skills Enhancement was piloted in a two-site open trial with 20 participants with autism spectrum disorder (12-17 years old, confirmed autism spectrum disorder diagnosis, IQ > 80).Outcome data support program feasibility and acceptability to participants, as well as significant improvement in emotion regulation impairments and related concerns.Findings offer preliminary support for both the feasibility and clinical effectiveness of the Emotional Awareness and Skills Enhancement program.
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2. Franz L, Adewumi K, Chambers N, Viljoen M, Baumgartner JN, de Vries PJ. {{Providing early detection and early intervention for autism spectrum disorder in South Africa: stakeholder perspectives from the Western Cape province}}. {Journal of child and adolescent mental health}. 2018: 1-17.
We set out to examine key stakeholder perspectives on early detection and intervention for autism spectrum disorder (ASD) in South Africa. Early detection and intervention improves child and family outcomes and lessens long-term costs. We focused on stakeholders in the Western Cape province, one of the better-resourced in terms of healthcare. Eight senior management level stakeholders, two each from government’s Health, Education, and Social Development, and the non-profit sector were identified using purposive sampling. In-depth interviews focused on key implementation- related themes. The National Integrated Early Childhood Development Policy was the most relevant to early detection and intervention. This policy, however, is not ASD specific. This lack of specificity is in keeping with an emerging theme: ASD was only seen within the context of other developmental disabilities, particularly by Health and Social Development. Specific ASD early detection and intervention may not currently align with Health and Social Development departmental goals. These departments are primarily responsible for identifying and providing services and financial support to young children with ASD. Increased ASD knowledge and local South African statistics on prevalence, burden and associated costs may alter this approach. At this time, ASD early intervention may be more closely aligned with Education department goals.
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3. Gotts SJ, Ramot M, Jasmin K, Martin A. {{Altered resting-state dynamics in autism spectrum disorder: Causal to the social impairment?}}. {Progress in neuro-psychopharmacology & biological psychiatry}. 2018.
Autism spectrum disorder (ASD) is characterized by profound impairments in social abilities and by restricted interests and repetitive behaviors. Much work in the past decade has been dedicated to understanding the brain-bases of ASD, and in the context of resting-state functional connectivity fMRI in high-functioning adolescents and adults, the field has established a set of reliable findings: decreased cortico-cortical interactions among brain regions thought to be engaged in social processing, along with a simultaneous increase in thalamo-cortical and striato-cortical interactions. However, few studies have attempted to manipulate these altered patterns, leading to the question of whether such patterns are actually causally involved in producing the corresponding behavioral impairments. We discuss a few such recent attempts in the domains of fMRI neurofeedback and overt social interaction during scanning, and we conclude that the evidence of causal involvement is somewhat mixed. We highlight the potential role of the thalamus and striatum in ASD and emphasize the need for studies that directly compare scanning during multiple cognitive states in addition to the resting-state.
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4. Kinnaird E, Stewart C, Tchanturia K. {{Investigating alexithymia in autism: A systematic review and meta-analysis}}. {European psychiatry : the journal of the Association of European Psychiatrists}. 2018; 55: 80-9.
BACKGROUND: New research suggests that, rather than representing a core feature of autism spectrum disorder (ASD), emotional processing difficulties reflect co-occurring alexithymia. Autistic individuals with alexithymia could therefore represent a specific subgroup of autism who may benefit from tailored interventions. The aim of this systematic review and meta-analysis was to explore the nature and prevalence of alexithymia in autism using the Toronto Alexithymia Scale (TAS). METHODS: Online scientific databases were searched systematically for studies on ASD popu lations using the TAS. Meta-analyses were performed to evaluate differences in scores between the ASD and neurotypical groups, and to determine the prevalence of alexithymia in these populations. RESULTS: 15 articles comparing autistic and neurotypical (NT) groups were identified. Autistic people scored significantly higher on all scores compared to the NT group. There was also a higher prevalence of alexithymia in the ASD group (49.93% compared to 4.89%), with a significantly increased risk of alexithymia in autistic participants. CONCLUSIONS: This review highlights that alexithymia is common, rather than universal, in ASD, supporting a growing body of evidence that co-occurring autism and alexithymia represents a specific subgroup in the ASD population that may have specific clinical needs. More research is needed to understand the nature and implications of co-occurring ASD and alexithymia.
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5. Leroy G, Gu Y, Pettygrove S, Galindo MK, Arora A, Kurzius-Spencer M. {{Automated Extraction of Diagnostic Criteria From Electronic Health Records for Autism Spectrum Disorders: Development, Evaluation, and Application}}. {Journal of medical Internet research}. 2018; 20(11): e10497.
BACKGROUND: Electronic health records (EHRs) bring many opportunities for information utilization. One such use is the surveillance conducted by the Centers for Disease Control and Prevention to track cases of autism spectrum disorder (ASD). This process currently comprises manual collection and review of EHRs of 4- and 8-year old children in 11 US states for the presence of ASD criteria. The work is time-consuming and expensive. OBJECTIVE: Our objective was to automatically extract from EHRs the description of behaviors noted by the clinicians in evidence of the diagnostic criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM). Previously, we reported on the classification of entire EHRs as ASD or not. In this work, we focus on the extraction of individual expressions of the different ASD criteria in the text. We intend to facilitate large-scale surveillance efforts for ASD and support analysis of changes over time as well as enable integration with other relevant data. METHODS: We developed a natural language processing (NLP) parser to extract expressions of 12 DSM criteria using 104 patterns and 92 lexicons (1787 terms). The parser is rule-based to enable precise extraction of the entities from the text. The entities themselves are encompassed in the EHRs as very diverse expressions of the diagnostic criteria written by different people at different times (clinicians, speech pathologists, among others). Due to the sparsity of the data, a rule-based approach is best suited until larger datasets can be generated for machine learning algorithms. RESULTS: We evaluated our rule-based parser and compared it with a machine learning baseline (decision tree). Using a test set of 6636 sentences (50 EHRs), we found that our parser achieved 76% precision, 43% recall (ie, sensitivity), and >99% specificity for criterion extraction. The performance was better for the rule-based approach than for the machine learning baseline (60% precision and 30% recall). For some individual criteria, precision was as high as 97% and recall 57%. Since precision was very high, we were assured that criteria were rarely assigned incorrectly, and our numbers presented a lower bound of their presence in EHRs. We then conducted a case study and parsed 4480 new EHRs covering 10 years of surveillance records from the Arizona Developmental Disabilities Surveillance Program. The social criteria (A1 criteria) showed the biggest change over the years. The communication criteria (A2 criteria) did not distinguish the ASD from the non-ASD records. Among behaviors and interests criteria (A3 criteria), 1 (A3b) was present with much greater frequency in the ASD than in the non-ASD EHRs. CONCLUSIONS: Our results demonstrate that NLP can support large-scale analysis useful for ASD surveillance and research. In the future, we intend to facilitate detailed analysis and integration of national datasets.
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6. Manor-Binyamini I. {{Listening to Bedouin fathers of children with autism spectrum disorder}}. {Transcultural psychiatry}. 2018: 1363461518808148.
Although children across the world experience autism spectrum disorder (ASD), most research on ASD has been conducted using Western cultural perspectives and has focused primarily on mothers, leaving significant gaps in the literature. This study aimed to address these gaps by exploring the experiences of fathers raising children with ASD in a Bedouin community. To this end, a sample of 19 fathers of children (aged 6-15 years) with ASD living in recognized and unrecognized Bedouin settlements in the Negev participated in ethnographic, semi-structured interviews designed to investigate their experiences with raising a child with ASD in their community. Two major themes emerged: the challenges that Bedouin fathers of children with ASD face, and the influence of socio-demographic and cultural characteristics on their experience. Findings reflect the complex experiences of fathers raising children with ASD in the Bedouin community, stemming from their socio-cultural context and the limited knowledge and support services that are available in the community for these children. This article concludes with recommendations on how to enhance professional sensitivity and provide more culturally tailored services for parents of children with ASD.
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7. Miller LE, Burke JD, Robins DL, Fein DA. {{Diagnosing Autism Spectrum Disorder in Children with Low Mental Age}}. {Journal of autism and developmental disorders}. 2018.
Autism Spectrum Disorder (ASD) diagnostic tools are not designed for mental ages (MA) below 12 months. Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS) were examined in 2-year-olds with ASD-low MA (n = 53), Global Developmental Delay (GDD; n = 175), and ASD-higher MA (n = 425). ADOS and CARS demonstrated similar agreement with clinical diagnosis, but ADOS over-classified ASD in low MA, whereas CARS both over- and under-classified. All ADOS items differentiated GDD from ASD. Elementary social behaviors (e.g., eye contact, social interest) were similar across ASD groups, although advanced skills (e.g., pointing, play) were more impaired in ASD-low MA. ASD-low MA, a severe presentation, may require a modified ADOS algorithm to account for developmental delays.
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8. Moy SS, Teng BL, Nikolova VD, Riddick NV, Simpson CD, Van Deusen A, Janzen WP, Sassano MF, Pedersen CA, Jarstfer MB. {{Prosocial effects of an oxytocin metabolite, but not synthetic oxytocin receptor agonists, in a mouse model of autism}}. {Neuropharmacology}. 2018.
Currently, there are no established pharmaceutical strategies that effectively treat social deficits in autism spectrum disorder (ASD). Oxytocin, a neurohormone that plays a role in multiple types of social behaviors, has been proposed as a possible therapeutic against social impairment and other symptoms in ASD. However, from the standpoint of pharmacotherapy, oxytocin has several liabilities as a standard clinical treatment, including rapid metabolism, low brain penetrance, and activity at the vasopressin (antidiuretic hormone) receptors. The present studies describe findings from a preclinical screening program to evaluate oxytocin receptor (OXTR) agonists and oxytocin metabolites for potential clinical use as more optimal treatments. We first investigated two synthetic oxytocin analogs, TC-OT-39 and carbetocin, using in vitro cell-based assays for pharmacological characterization and behavioral tests in the BALB/cByJ mouse model of ASD-like social deficits. Although both TC-OT-39 and carbetocin selectively activate the OXTR, neither synthetic agonist had prosocial efficacy in the BALB/cByJ model. We next evaluated two oxytocin metabolites: OT(4-9) and OT(5-9). While OT(5-9) failed to affect social deficits, the metabolite OT(4-9) led to significant social preference in the BALB/cByJ model, in a dose-dependent manner. The increased sociability was observed at both 24h and 12 days following the end of a subchronic regimen with OT(4-9) (2.0mg/kg). Overall, these results suggest that the prosocial effects of oxytocin could be mediated by downstream activity of oxytocin metabolites, raising the possibility of new pathways to target for drug discovery relevant to ASD.
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9. Park CB, Choi VN, Jun JB, Kim JH, Lee Y, Lee J, Lim G, Kim J, Jeong SY, Yim SY. {{Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder}}. {Biochemical and biophysical research communications}. 2018.
Mitochondrial dysfunction and subsequent enhanced oxidative stress is implicated in the pathogenesis of autism spectrum disorder (ASD). Mitochondrial transcription factor B2 (TFB2M) is an essential protein in mitochondrial gene expression. No reports have described TFB2M mutations and variations involved in any human diseases. We identified a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with ASD by whole-exome sequencing. The roles of the TFB2M variation in the pathogenesis of ASD were investigated. Patient fibroblasts revealed increased transcription of mitochondrial genes and mitochondrial function in terms of ATP, membrane potential, oxygen consumption, and reactive oxygen species (ROS). Overexpression of the TFB2M variant in primary-cultured fibroblasts demonstrated significantly increased transcription of mitochondrial genes and mitochondrial function compared with overexpression of wild-type TFB2M. Molecular dynamics simulation of the TFB2M variant protein suggested an increase in the rigidity of the hinge region, which may cause alterations in loading and/or unloading of TFB2M on target DNA. Our results suggest that augmentation of mitochondrial gene expression and subsequent enhancement of mitochondrial function may be associated with the pathogenesis of ASD in Korean patients.
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10. Penuelas-Calvo I, Sareen A, Sevilla-Llewellyn-Jones J, Fernandez-Berrocal P. {{The « Reading the Mind in the Eyes » Test in Autism-Spectrum Disorders Comparison with Healthy Controls: A Systematic Review and Meta-analysis}}. {Journal of autism and developmental disorders}. 2018.
We conducted a meta-analysis of 18 studies to establish whether a relation exists between Reading the Mind in the Eye Test (RMET) performance and intelligence quotient (IQ) in individuals diagnosed with autism-spectrum disorders (ASD) and controls, taking into account relevant characteristics such as age, gender, and autism quotient. Our findings indicate that RMET performance was better in controls compared with those diagnosed with ASD. We found that RMET performance is dependent on full and verbal IQ and age in controls. However, RMET performance is negatively correlated with performance IQ in individuals diagnosed with ASD. These results suggest that the methodology applied by ASD when taking the RMET is different from control individuals and might depend less on verbal abilities.
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11. Rea HM, Factor RS, Swain DM, Scarpa A. {{The Association of the Broader Autism Phenotype with Emotion-Related Behaviors in Mothers of Children With and Without Autism Spectrum Traits}}. {Journal of autism and developmental disorders}. 2018.
Broader autism phenotype (BAP) characteristics (pragmatic language deficits, aloofness, and rigidity) are prevalent in families of individuals with autism spectrum disorder (ASD) and may influence emotion-related behaviors. The current study analyzed associations among BAP characteristics with emotion-related behaviors in mothers of children with and without ASD. Twenty-seven mothers completed BAP and emotion regulation (ER) questionnaires. Maternal affect was coded during an interaction task. BAP rigidity negatively correlated with the ER strategy reappraisal. BAP total and pragmatic scores positively correlated with observed negative affect. Associations remained significant in step-wise regressions that controlled for other BAPQ subscale scores. Findings suggest that pragmatic difficulties may interfere with positive mother-child interactions and mothers with high rigidity may benefit from learning adaptive ER strategies.
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12. Schendel DE, Thorsteinsson E. {{Cumulative Incidence of Autism Into Adulthood for Birth Cohorts in Denmark, 1980-2012}}. {Jama}. 2018; 320(17): 1811-3.
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13. Tonnsen BL, Wheeler AC, Hamrick LR, Roberts JE. {{Infant Temperament in the FMR1 Premutation and Fragile X Syndrome}}. {Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53}. 2018: 1-11.
Although temperament has been studied for decades as a predictor of psychopathology in the general population, examining temperament in neurogenetic groups has unique potential to inform the genetic and biological factors that may confer risk for psychopathology in later development. The present study examined early temperament in two heritable neurogenetic conditions associated with atypical CGG repeat expansions on the FMR1 gene: the FMR1 premutation (FXpm; 55-200 repeats) and fragile X syndrome (FXS; > 200 repeats). We focus specifically on the FXpm, as the condition is highly prevalent (1:209-291 female individuals, 1:430-855 male individuals) and has been preliminarily associated with increased risk for pediatric psychopathology, including attention problems, autism, and anxiety. In contrast, FXS is a low-incidence disorder (1:7,143 males, 1:11,111 females) often associated with intellectual disability and severe co-occurring psychosocial conditions, particularly in male individuals. Given information on infant clinical phenotypes in the FXpm and FXS is sparse, we aimed to characterize parent-reported infant temperament in infants with the FXpm (n = 22) relative to FXS (n = 24) and controls (n = 24) assessed on 1 to 3 occasions each. Temperament in infants with the FXpm largely fell between TD and FXS groups, with trends toward suppressed negative affect in younger participants, similar to lower negative affect previously reported in FXS. The FXS group consistently demonstrated lower negative affect and surgency than TD controls. These data suggest that FMR1 gene mutations are associated with atypical temperament that emerges as early as infancy, particularly among infants with FXS, warranting further study of whether temperament may index emergent clinical risks in these populations.
