1. Arnett AB, Rhoads CL, Hoekzema K, Turner TN, Gerdts J, Wallace AS, Bedrosian-Sermone S, Eichler EE, Bernier RA. {{The autism spectrum phenotype in ADNP syndrome}}. {Autism Res}. 2018.
Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.
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2. Bal VH, Kim SH, Fok M, Lord C. {{Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adults}}. {Autism Res}. 2018.
This study explored change in social-communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver-reported social-communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social-communicative impairment at 2 years and significant decreases in overall symptom levels across the 17-year period (P < .001). Across three subdomains, main effects of time and language (P < .001) reflected patterns of overall improvement, although children with more impaired language tended to have more caregiver-reported symptoms relative to verbal peers. A significant time-by-language interaction (P < .001) reflected that trajectories of socioemotional reciprocity symptoms differed according to patterns of language development. In contrast, improvements in the nonverbal communication domain were seen across language groups, whereas deficits in the development and maintenance of relationships improved for only verbal children. Verbal adults showed significant reductions in the prevalence of kseveral symptoms exhibited during childhood. Improvements suggest that symptoms indicative of ASD in young children may no longer be diagnostic markers in adolescents and adults. Relative stability of several items suggests that impaired facial expression may be a core ASD symptom that warrants more systematic study across the lifespan. Research investigating the manifestation of ASD in older individuals is needed to foster development of appropriate assessment tools and interventions. Differential relationships to developmental factors within the broader social-communication domain underscores a need to focus on more narrowly defined symptom constructs when exploring links between pathophysiology and observable phenotypes. LAY SUMMARY: In a sample of 140 participants with autism spectrum disorder (ASD) followed from 2 to 19 years old, this study found that overall social-communicative symptoms improve across childhood and adolescence. However, timing and amount of change varied for different symptom categories and participants with different language abilities. Findings suggest that some older adolescents and adults with ASD may not exhibit the same difficulties observed in young children with ASD. More research is needed to better understand the strengths and needs of young adults with ASD. Lien vers le texte intégral (Open Access ou abonnement)
3. Bellesheim KR, Cole L, Coury DL, Yin L, Levy SE, Guinnee MA, Klatka K, Malow BA, Katz T, Taylor J, Sohl K. {{Family-Driven Goals To Improve Care for Children With Autism Spectrum Disorder}}. {Pediatrics}. 2018.
OBJECTIVES: Constipation and insomnia are not consistently identified and treated in children with autism spectrum disorder (ASD) despite their high prevalence and deleterious impact in this population. To standardize care, a constipation practice pathway and an insomnia practice pathway were previously developed by Autism Treatment Network clinicians. Our objective was to implement and refine these practice pathways in clinical settings. METHODS: Eleven Autism Treatment Network sites participated in a Learning Collaborative (ie, multidisciplinary quality improvement team) and chose to implement either the constipation or insomnia practice pathway in the clinical setting. Families set intervention goals (eg, increase stool frequency, decrease nighttime awakenings) before treatment. Each site began implementation with 1 patient and then increased implementation by factors of 5. Before each increase, the Learning Collaborative evaluated progress and refined the practice pathways. Process improvement was measured primarily by duration until goal attainment and by percentage of families who meet their goals. RESULTS: Across sites, 82 children with ASD and constipation and 101 children with ASD and insomnia were managed. Difficulties with intervention adherence and communication between providers and families were reported and were subsequently improved with parallel refinements to both practice pathways. The most notable modification was incorporating a goal-setting session in which families generated their own intervention goals (ie, family-driven goals). In this quality improvement initiative, 75% of families met at least 1 constipation or insomnia goal, with the median time to improvement being 6 weeks. CONCLUSIONS: By integrating a family-centered approach into the standardization of care, constipation and insomnia practice pathways may improve engagement, adherence, and management of medical conditions in children with ASD.
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4. Chez M, Kile S, Lepage C, Parise C, Benabides B, Hankins A. {{A Randomized, Placebo-Controlled, Blinded, Crossover, Pilot Study of the Effects of Dextromethorphan/Quinidine for the Treatment of Neurobehavioral Symptoms in Adults with Autism}}. {J Autism Dev Disord}. 2018.
Prior studies have demonstrated successful irritability treatment using dopaminergic antagonists in autistic patients. The purpose of this pilot study was to assess the effect of dextromethorphan/quinidine (DM/Q) in autistic adults (18-60 years of age). This was a randomized, blinded, crossover, study of 14 patients randomized to DM/Q or a placebo for 8 weeks, washed out for 4 weeks, then crossed over to the opposite treatment. There were no serious adverse events. Subjects were significantly lower on the Aberrant Behavioral Checklist for Irritability (ABC-IR) (F1,10 = 7.42; p = 0.021). Improvements in aggression and Clinical Global Impression were also seen. The findings suggest that DM/Q is well-tolerated and associated with improvements in irritability and aggression in adults with autism.
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5. de Vaan G, Vervloed MPJ, Peters-Scheffer NC, van Gent T, Knoors H, Verhoeven L. {{Assessing Autism Spectrum Disorder in People with Sensory Impairments Combined with Intellectual Disabilities}}. {Journal of developmental and physical disabilities}. 2018; 30(4): 471-87.
People with sensory impairments combined with intellectual disabilities show behaviours that are similar to Autism Spectrum Disorder (ASD). The instrument Observation of Autism in people with Sensory and Intellectual Disabilities (OASID) was developed to diagnose ASD in this target group. The current study focuses on the psychometric properties of OASID. Sixty individuals with intellectual disabilities in combination with visual impairments and/or deafblindness participated in this study. The OASID assessment was administered and rated by three independent observers. By means of expert consensus cut-off scores for OASID were created. To determine the concurrent validity OASID was compared with the Pervasive Developmental Disorder for People with Mental Retardation (PDD-MRS) and the Childhood Autism Rating Scale second edition (CARS-2). The intra-rater reliability, the inter-rater reliability, internal consistency and concurrent validity of OASID were good to excellent. Cut-off scores were established based on criteria from the DSM-5. OASID was able to differentiate between four severity levels of ASD.
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6. Frye RE. {{Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents}}. {CNS drugs}. 2018.
Autism spectrum disorder is defined by two core symptoms: a deficit in social communication and the presence of repetitive behaviors and/or restricted interests. Currently, there is no US Food and Drug Administration-approved drug for these core symptoms. This article reviews the biological origins of the social function deficit associated with autism spectrum disorder and the drug therapies with the potential to treat this deficit. A review of the history of autism demonstrates that a deficit in social interaction has been the defining feature of the concept of autism from its conception. Abnormalities identified in early social skill development and an overview of the pathophysiology abnormalities associated with autism spectrum disorder are discussed as are the abnormalities in brain circuits associated with the social function deficit. Previous and ongoing clinical trials examining agents that have the potential to improve social deficits associated with autism spectrum disorder are discussed in detail. This discussion reveals that agents such as oxytocin and propranolol are particularly promising and undergoing active investigation, while other agents such as vasopressin agonists and antagonists are being activity investigated but have limited published evidence at this time. In addition, agents such as bumetanide and manipulation of the enteric microbiome using microbiota transfer therapy appear to have promising effects on core autism spectrum disorder symptoms including social function. Other pertinent issues associated with developing treatments in autism spectrum disorder, such as disease heterogeneity, high placebo response rates, trial design, and the most appropriate way of assessing effects on social skills (outcome measures), are also discussed.
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7. Fuld S. {{Autism Spectrum Disorder: The Impact of Stressful and Traumatic Life Events and Implications for Clinical Practice}}. {Clinical social work journal}. 2018; 46(3): 210-9.
Research findings suggest that behavioral interventions are effective in improving educational outcomes and fostering skill development in people with autism spectrum disorder (ASD). However, high rates of comorbidity between ASD and other psychological disorders, including depression and anxiety, indicate that standard behavioral approaches are not adequately addressing issues related to mental health in this population. Research emerging since the publication of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) is advancing our understanding of the nature of childhood stress and trauma in people with ASD and its subsequent impact on mental health and wellbeing. Mounting evidence for stress and trauma as a risk factor for comorbidity and the worsening of core ASD symptoms may intimate a shift in the way clinical social workers and other clinical practitioners conceptualize and approach work with this population to include trauma-focused assessment strategies and clinical interventions. Future directions for research to better understand the nature of childhood stress and trauma and improve mental health in this population are also discussed.
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8. Hacohen-Kleiman G, Sragovich S, Karmon G, Gao AYL, Grigg I, Pasmanik-Chor M, Le A, Korenkova V, McKinney RA, Gozes I. {{Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome}}. {The Journal of clinical investigation}. 2018.
Previous findings showed that in mice, complete knockout of activity-dependent neuroprotective protein (ADNP) abolishes brain formation, while haploinsufficiency (Adnp+/-) causes cognitive impairments. We hypothesized that mutations in ADNP lead to a developmental/autistic syndrome in children. Indeed, recent phenotypic characterization of children harboring ADNP mutations (ADNP syndrome children) revealed global developmental delays and intellectual disabilities, including speech and motor dysfunctions. Mechanistically, ADNP includes a SIP motif embedded in the ADNP-derived snippet, drug candidate NAP (NAPVSIPQ also known as CP201), which binds to microtubule end binding protein 3, essential for dendritic spine formation. Here, we established a unique neuronal membrane tagged green fluorescent protein expressing Adnp+/- mouse line allowing in vivo synaptic pathology quantification. We discovered that Adnp deficiency reduced dendritic spine density and altered synaptic gene expression, both of which were partly ameliorated by NAP treatment. Adnp+/- mice further exhibited global developmental delays, vocalization impediments, gait/motor dysfunctions and social/object memory impairments, all partially reversed by daily NAP administration (systemic/nasal). In conclusion, we now connected ADNP-related synaptic pathology to developmental/behavioral outcomes, establishing NAP in vivo target engagement and identifying potential biomarkers. Together, these studies pave the path toward clinical development of NAP (CP201) in the ADNP syndrome.
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9. Hamad AF, Alessi-Severini S, Mahmud SM, Brownell M, Kuo IF. {{Early childhood antibiotics use and autism spectrum disorders: a population-based cohort study}}. {International journal of epidemiology}. 2018.
Background: Changes in microbiota composition as a result of antibiotics use in early life has been proposed as a possible contributor in the aetiology of autism spectrum disorders (ASD). We aimed to examine the association between early life antibiotic exposure and risk of ASD. Methods: This was a population-based cohort study which included all live births in Manitoba, Canada, between 1 April 1998 and 31 March 2016. We used administrative health data from the Manitoba Population Research Data Repository. Exposure was defined as having filled one or more antibiotic prescription during the first year of life. The main outcome was ASD diagnosis. Cox proportional hazards regression models were used to estimate the risk of developing ASD in the overall population and in a sibling cohort. Results: Of all subjects in the cohort (n = 214 834), 94 024 (43.8%) filled an antibiotic prescription during the first year of life. During follow-up, 2965 children received an ASD diagnosis. Compared with children who did not use antibiotics during the first year of life, those who received antibiotics had a reduced risk of ASD [adjusted hazardz ratio (HR) 0.91, 95% confidence interval (CI) 0.84-0.99). Number of treatment courses and cumulative duration of antibiotic exposure were not associated with ASD. In the sibling-controlled analysis, early life antibiotic exposure was not associated with ASD (adjusted HR 1.03, 95% CI 0.86-1.23). Conclusions: Our findings suggested no clinically significant association between early life antibiotics exposure and risk of autism spectrum disorders, and should provide reassurance to concerned prescribers and parents.
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10. Healy S, Aigner CJ, Haegele JA. {{Prevalence of overweight and obesity among US youth with autism spectrum disorder}}. {Autism}. 2018: 1362361318791817.
The purpose of this study was to examine current overweight and obesity prevalence rates among US youth (aged 10-17 years) with and without autism spectrum disorder, based on the 2016 National Survey of Children’s Health. Analyses of weight status, derived from parent-reported height and weight measures, were conducted for a weighted sample of 875,963 youth with autism spectrum disorder and 31,913,657 typically developing youth. Controlling for age, race/ethnicity, income, and sex, youth with autism spectrum disorder had significantly higher odds of overweight (odds ratio = 1.48, p = 0.04) and obesity (odds ratio = 1.49, p = 0.02) compared to typically developing youth. Among youth with autism spectrum disorder, 19.4% were overweight and 23.05% were obese. Among typically developing youth, 14.9% were overweight and 15.91% were obese. Higher odds of obesity were reported for youth with severe autism spectrum disorder (odds ratio = 3.35, p < 0.01), compared to those with mild autism spectrum disorder. Lien vers le texte intégral (Open Access ou abonnement)
11. Hicks SD, Uhlig R, Afshari P, Williams J, Chroneos M, Tierney-Aves C, Wagner K, Middleton FA. {{Oral microbiome activity in children with autism spectrum disorder}}. {Autism Res}. 2018.
Autism spectrum disorder (ASD) is associated with several oropharyngeal abnormalities, including buccal sensory sensitivity, taste and texture aversions, speech apraxia, and salivary transcriptome alterations. Furthermore, the oropharynx represents the sole entry point to the gastrointestinal (GI) tract. GI disturbances and alterations in the GI microbiome are established features of ASD, and may impact behavior through the « microbial-gut-brain axis. » Most studies of the ASD microbiome have used fecal samples. Here, we identified changes in the salivary microbiome of children aged 2-6 years across three developmental profiles: ASD (n = 180), nonautistic developmental delay (DD; n = 60), and typically developing (TD; n = 106) children. After RNA extraction and shotgun sequencing, actively transcribing taxa were quantified and tested for differences between groups and within ASD endophenotypes. A total of 12 taxa were altered between the developmental groups and 28 taxa were identified that distinguished ASD patients with and without GI disturbance, providing further evidence for the role of the gut-brain axis in ASD. Group classification accuracy was visualized with receiver operating characteristic curves and validated using a 50/50 hold-out procedure. Five microbial ratios distinguished ASD from TD participants (79.5% accuracy), three distinguished ASD from DD (76.5%), and three distinguished ASD children with/without GI disturbance (85.7%). Taxonomic pathways were assessed using the Kyoto Encyclopedia of Genes and Genomes microbial database and compared with one-way analysis of variance, revealing significant differences within energy metabolism and lysine degradation. Together, these results indicate that GI microbiome disruption in ASD extends to the oropharynx, and suggests oral microbiome profiling as a potential tool to evaluate ASD status. LAY SUMMARY: Previous research suggests that the bacteria living in the human gut may influence autistic behavior. This study examined genetic activity of microbes living in the mouth of over 300 children. The microbes with differences in children with autism were involved in energy processing and showed potential for identifying autism status.
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12. Horvath S, McDermott E, Reilly K, Arunachalam S. {{Acquisition of Verb Meaning From Syntactic Distribution in Preschoolers With Autism Spectrum Disorder}}. {Language, speech, and hearing services in schools}. 2018; 49(3s): 668-80.
Purpose: Our goal was to investigate whether preschool children with autism spectrum disorder (ASD) can begin to learn new word meanings by attending to the linguistic contexts in which they occur, even in the absence of visual or social context. We focused on verbs because of their importance for subsequent language development. Method: Thirty-two children with ASD, ages 2;1-4;5 (years;months), participated in a verb-learning task. In a between-subjects design, they were randomly assigned to hear novel verbs in either transitive or intransitive syntactic frames while watching an unrelated silent animation or playing quietly with a toy. In an eye-tracking test, they viewed two video scenes, one depicting a causative event (e.g., boy spinning girl) and the other depicting synchronous events (e.g., boy and girl waving). They were prompted to find the referents of the novel verbs, and their eye gaze was measured. Results: Like typically developing children in prior work, children with ASD who had heard the verbs in transitive syntactic frames preferred to look to the causative scene as compared to children who had heard intransitive frames. Conclusions: This finding replicates and extends prior work on verb learning in children with ASD by demonstrating that they can attend to a novel verb’s syntactic distribution absent relevant visual or social context, and they can use this information to assign the novel verb an appropriate meaning. We discuss points for future research, including examining individual differences that may impact success and contrasting social and nonsocial word-learning tasks directly.
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13. Johnson CR, Brown K, Hyman SL, Brooks MM, Aponte C, Levato L, Schmidt B, Evans V, Huo Z, Bendixen R, Eng H, Sax T, Smith T. {{Parent Training for Feeding Problems in Children With Autism Spectrum Disorder: Initial Randomized Trial}}. {Journal of pediatric psychology}. 2018.
Objective: Many children with autism spectrum disorder (ASD) have feeding and mealtime problems. To address these, we conducted a pilot randomized trial of a new 11-session, individually delivered parent training program that integrated behavioral strategies and nutritional guidance (PT-F). Methods: Forty-two young children (age: 2 to 7-11 years) with ASD and feeding problems were assigned to 11 sessions of PT-F intervention over 20 weeks or a waitlist control. Outcomes included attendance, parent satisfaction, therapist fidelity, and preliminary assessments of child and parent outcomes. Results: Of the 21 PT-F families, attendance was high (85%) as was parent satisfaction (94% would recommend to others). Treatment fidelity was also high (97%-therapist integrity; 94%-parent adherence). Compared with waitlist, children whose parents participated in PT-F showed significantly greater reductions on the two parent-completed primary outcomes (Brief Autism Mealtime Behavior Inventory-Revised; Twald = -2.79; p = .003; About Your Child’s Eating; Twald = -3.58; p = .001). On the independent evaluator-completed secondary eating outcome, the Clinical Global Impression-Improvement, 48.8% of the participants in PT-F were rated as « responders » compared with 0% in waitlist (p = .006). General child disruptive behavior outcomes decreased more in PT-F but not significantly. Parent outcomes of caregiver stress showed nonsignificant trends favoring PT-F with moderate to small effect sizes. Conclusions: This trial provides evidence for feasibility, satisfaction, and fidelity of implementation of PT-F for feeding problems in young children with ASD. Feeding outcomes also appeared favorable and lends support for conducting a larger efficacy trial.
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14. Kerub O, Haas EJ, Meiri G, Davidovitch N, Menashe I. {{A Comparison Between Two Screening Approaches for ASD Among Toddlers in Israel}}. {J Autism Dev Disord}. 2018.
Systematic screening of autism spectrum disorder (ASD) can improve early diagnosis of ASD. We compared the efficacy of two ASD screening methods, the Global Developmental Screening (GDS), and the Modified Checklist for Autism in Toddlers-Revised, with Follow-Up (M-CHAT/F) in 1591 toddlers of ages 18-36 months from 35 government-funded clinics in south Israel. The M-CHAT/F performed better than the GDS in detecting toddlers with ASD (sensitivity: 70.0% vs. 50.0%, and specificity: 98.2% vs. 96.6% respectively). Both methods had an equivalent performance in detecting other forms of developmental delays (sensitivity = 63%; and specificity ~ 98%). In addition, remarkable inter-nurse variation was observed in the GDS referral decisions. Thus, employment of the M-CHAT/F in the Israeli health system may improve early detection of ASD among toddlers.
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15. Knight E, Blacher J, Eisenhower A. {{Predicting reading comprehension in young children with autism spectrum disorder}}. {School psychology quarterly : the official journal of the Division of School Psychology, American Psychological Association}. 2018.
Relationships between early literacy measures (i.e., curriculum-based measurement) and advanced literacy measures (i.e., reading comprehension) were examined in young children with autism spectrum disorders (ASDs). Participants in this study were 167 children between the ages of 4 and 7 years (M = 5 years 8 months), who were assessed at 2 time points during 1 school year. Results indicated that, compared to other measures of early literacy skills, curriculum-based measurements (CBMs) accurately assessed skills in students with ASD. Furthermore, early literacy skills predicted reading comprehension approximately six months later in this sample. The reading development of children with ASD compared to typically developing children appears to be similar in the predictive capacity of decoding skills on later reading skills and dissimilar in the variability and range of skills. CBM tools can provide educators with information about the early reading skills of children with ASD to help address reading and language difficulties seen in this population. (PsycINFO Database Record
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16. Lee CE, Burke MM, Arnold CK, Owen A. {{Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: Parents often face many barriers when taking care of their offspring with disabilities. In childhood, support needs vary with families of children with Down syndrome often reporting less caregiving challenges. However, it is unclear whether support needs vary in adulthood. This study compared parents of adults with Down syndrome (DS), autism spectrum disorder (ASD) and cerebral palsy (CP) regarding support needs of their offspring with intellectual and developmental disabilities (IDD) and their families. METHOD: Data were collected via a national survey in the United States with 189 parents of adults with IDD. RESULTS: Across the quantitative and qualitative analyses, parents of adults with DS (versus CP and ASD) reported significantly greater recreational, natural supports, more formal services and less future planning barriers. CONCLUSION: The results indicate that the DS advantage may persist in adulthood regarding support needs. More research is needed to understand different types of support needs.
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17. Nicholson TM, Williams DM, Grainger C, Christensen JF, Calvo-Merino B, Gaigg SB. {{Interoceptive impairments do not lie at the heart of autism or alexithymia}}. {Journal of abnormal psychology}. 2018; 127(6): 612-22.
Quattrocki and Friston (2014) argued that abnormalities in interoception-the process of representing one’s internal physiological states-could lie at the heart of autism, because of the critical role interoception plays in the ontogeny of social-affective processes. This proposal drew criticism from proponents of the alexithymia hypothesis, who argue that social-affective and underlying interoceptive impairments are not a feature of autism per se, but of alexithymia (a condition characterized by difficulties describing and identifying one’s own emotions), which commonly co-occurs with autism. Despite the importance of this debate for our understanding of autism spectrum disorder (ASD), and of the role of interoceptive impairments in psychopathology, more generally, direct empirical evidence is scarce and inconsistent. Experiment 1 examined in a sample of 137 neurotypical (NT) individuals the association among autistic traits, alexithymia, and interoceptive accuracy (IA) on a standard heartbeat-tracking measure of IA. In Experiment 2, IA was assessed in 46 adults with ASD (27 of whom had clinically significant alexithymia) and 48 NT adults. Experiment 1 confirmed strong associations between autistic traits and alexithymia, but yielded no evidence to suggest that either was associated with interoceptive difficulties. Similarly, Experiment 2 provided no evidence for interoceptive impairments in autistic adults, irrespective of any co-occurring alexithymia. Bayesian analyses consistently supported the null hypothesis. The observations pose a significant challenge to notions that interoceptive impairments constitute a core feature of either ASD or alexithymia, at least as far as the direct perception of interoceptive signals is concerned. (PsycINFO Database Record
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18. Ozyurt G, Dinsever C, Tufan AE, Baykara B. {{Are language features and emotional regulation related with maternal depression in autism and language delay?}}. {Pediatrics international : official journal of the Japan Pediatric Society}. 2018.
OBJECTIVE: Language and communication is very important in social, emotional and cognitive development of children. Delay in language is usually the first complaint for children diagnosed with autism spectrum disorder (ASD) or developmental language delays (DLDs). This study evaluated language features and emotional regulation skills of children diagnosed with ASD and DLDs and their relationships with maternal depression levels METHOD: The sample included children aged 24- 54 months diagnosed with ASD (n=31), or with DLDs (n=45) and 52 healthy controls. The Test of Early Language Development (TELD-3) was used to evaluate language profiles and the Beck Depression Inventory (BDI) was used to examine maternal depression. Children’s emotion regulation skills were evaluated with Emotion Regulation Checklist. RESULTS: As a result it was found that children with DLDs had significantly higher developmental ages, were linguistically more developed and had better emotion regulation compared to the ASD group. All domains of language in TELD-3 except expressive syntax were more developed in DLD. Maternal BDI scores did not differ significantly between DLDs and ASD. Both of these disorders were not related with maternal depression. CONCLUSION: In this study; it was found that children with DLDs were less impaired than children with ASDs both in terms of language and emotion regulation areas. This article is protected by copyright. All rights reserved.
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19. Raz R, Kioumourtzoglou MA, Weisskopf MG. {{Live Birth Bias and Observed Associations between Air Pollution and Autism}}. {American journal of epidemiology}. 2018.
A recent analysis found that exposure to air pollution in specific pregnancy weeks is negatively associated with risk of autism spectrum disorder (ASD) when mutually adjusted for postnatal air pollution exposure. In this commentary, we describe two possible selection bias processes that may lead to such results, both related to live birth bias, i.e. the inevitable restriction of the analyzed sample to live births. The first mechanism is described using a directed acyclic graph and relates to the chance of live birth being a common consequence of both exposure to air pollution and another risk factor of ASD. The second mechanism involves preferential depletion of fetuses susceptible to ASD in the higher air pollution exposure group. We further discuss the assumptions underlying these processes and their causal structures, their plausibility, and other studies where similar phenomenon may have occurred.
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20. Robinson A. {{Emotion-Focused Therapy for Autism Spectrum Disorder: A Case Conceptualization Model for Trauma-Related Experiences}}. {Journal of contemporary psychotherapy}. 2018; 48(3): 133-43.
People with autism spectrum disorder (ASD) report painful experiences through emotional misunderstandings with typically developing peers. There are limited intervention methodologies for ASD on the impact of emotional injuries and how to work with resulting trauma. This paper presents a rational-empirical model of trauma-related experiences with the first presentation of a new case conceptualization model for emotion-focused therapy for ASD. It describes the transformation of problematic emotion schemes through a sequence of emotional processing steps illustrated with a case example. These steps include: overcoming differentiation of core painful feelings (such as loneliness, shame, and fear); autobiographical memory recall of distanced trauma, using a novel method of video Interpersonal Process Recall; and articulation of the unmet needs contained in core painful feelings. This is followed by the expression of an emotional response to those feelings/needs; typically, self-soothing, protective anger and compassion responses offered interpersonally by group members. These emerging adaptive emotions facilitate mentalization of self and other that strengthens intrapersonal and interpersonal agency. This rational-empirical case conceptualization acts as a hypothesis for testing in subsequent trials.
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21. Sajdel-Sulkowska EM, Makowska-Zubrycka M, Czarzasta K, Kasarello K, Aggarwal V, Bialy M, Szczepanska-Sadowska E, Cudnoch-Jedrzejewska A. {{Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism}}. {Cerebellum (London, England)}. 2018.
This review considers a link between prematurity and autism by comparing symptoms, physiological abnormalities, and behavior. It focuses on the bidirectional signaling between the microbiota and the brain, here defined as the microbiota-gut-vagus-heart-brain (MGVHB) axis and its systemic disruption accompanying altered neurodevelopment. Data derived from clinical and animal studies document increased prevalence of gastrointestinal, cardiovascular, cognitive, and behavioral symptoms in both premature and autistic children and suggest an incomplete maturation of the gut-blood barrier resulting in a « leaky gut, » dysbiosis, abnormalities in vagal regulation of the heart, altered development of specific brain regions, and behavior. Furthermore, this review posits the hypothesis that common genetic variants link the abnormalities in the MGVHB axis in premature and autistic pathologies. This hypothesis is based on the recently identified common genetic variants: early B cell factor 1 (EBF1), selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC), and angiotensin II receptor type 2 (AGTR2), in the maternal and infant DNA samples, associated with risk of preterm birth and independently implicated in a risk of autism. We predict that the AGTR2 variants involved in the brain maturation and oxytocin-arginine-vasopressin (OXT-AVP) pathways, related to social behavior, will contribute to our understanding of the link between prematurity and autism paving a way to new therapies.
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22. Wang L, Li J, Shuang M, Lu T, Wang Z, Zhang T, Yue W, Jia M, Ruan Y, Liu J, Wu Z, Zhang D, Wang L. {{Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population}}. {Translational psychiatry}. 2018; 8(1): 152.
Cytogenetic studies suggested that chromosome 15q11-q13 might be a candidate region that increases the risk of autism. Previous association studies in Caucasian populations identified the risk variants of genes in this region. However, the association of these genes with autism in Chinese Han population remains unclear. Herein, 512 autism trios were utilized for a family-based association study of 41 tag single nucleotide polymorphisms (SNPs) in this region to explore the association between protein-coding genes on chromosome 15q11-q13 and autism in Chinese Han population. Furthermore, we sequenced these autism-related genes to detect rare variants in 512 autism trios and 575 healthy controls. Our results showed that the C allele of rs7180500 in GABRG3 was a risk variant for autism (p = 0.00057). The expression quantitative trait loci (eQTL) analysis revealed that the C allele of rs7180500 might be associated with the expression of GABRG3 in the cerebellum (Braineac: p = 0.0048; GTEx: p = 0.0010). Moreover, the sequencing identified two rare variants rs201602655 (p.Val233Met) and rs201427468 (p.Pro365Ser) in GABRG3 and six rare variants in GABRB3 in autistic patients. Among these variants, rs201602655 (p.Val233Met) in GABRG3 were observed in 9 of 512 autistic children and 2 of 575 healthy controls (Pearson chi(2)-test, chi(2) = 5.375, p = 0.020). The functional prediction indicated that rs201602655 (p.Val233Met) might be deleterious. Thus, these findings demonstrated that GABRG3 might contribute to the pathogenesis of autism in Chinese Han population.
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23. Wegiel J, Brown WT, La Fauci G, Adayev T, Kascsak R, Kascsak R, Flory M, Kaczmarski W, Kuchna I, Nowicki K, Martinez-Cerdeno V, Wisniewski T, Wegiel J. {{The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13)}}. {Autism Res}. 2018.
Fragile X syndrome (FXS), caused by lack of fragile X mental retardation protein (FMRP), is associated with a high prevalence of autism. The deficit of FMRP reported in idiopathic autism suggests a mechanistic overlap between FXS and autism. The overall goal of this study is to detect neuropathological commonalities of FMRP deficits in the brains of people with idiopathic autism and with syndromic autism caused by dup15q11.2-q13 (dup15). This study tests the hypothesis based on our preliminary data that both idiopathic and syndromic autism are associated with brain region-specific deficits of neuronal FMRP and structural changes of the affected neurons. This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism. Neuronal FMRP deficit coexists with surprising infiltration of the brains of autistic children and adults with FMRP-positive astrocytes known to be typical only for the fetal and short postnatal periods. In the examined autistic subjects, these astrocytes selectively infiltrate the border between white and gray matter in the cerebral and cerebellar cortex, the molecular layer of the cortex, part of the amygdala and thalamus, central cerebellar white matter, and dentate nucleus. Astrocyte pathology results in an additional local loss of FMRP in neurons and their shrinkage. Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP-positive astrocytes and regions infiltrated with FMRP-expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder. LAY SUMMARY: Immunocytochemistry reveals a deficit of fragile X mental retardation protein (FMRP) in neurons of cortical and subcortical brain structures but increased FMRP expression in astrocytes infiltrating gray and white matter. The detected shrinkage of FMRP-deficient neurons may provide a mechanistic explanation of reported neuronal structural and functional changes in autism. This study contributes to growing evidence of mechanistic commonalities between fragile X syndrome and autism spectrum disorder.
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24. White RC, Remington A. {{Object personification in autism: This paper will be very sad if you don’t read it}}. {Autism}. 2018: 1362361318793408.
Object personification is the attribution of human characteristics to non-human agents. In online forums, autistic individuals commonly report experiencing this phenomenon. Given that approximately half of all autistic individuals experience difficulties identifying their own emotions, the suggestion that object personification may be a feature of autism seems almost paradoxical. Why would a person experience sympathy for objects, when they struggle to understand and verbalise the emotions of other people as well as their own? An online survey was used to assess tendency for personification in 87 autistic and 263 non-autistic adults. Together, our results indicate that object personification occurs commonly among autistic individuals, and perhaps more often (and later in life) than in the general population. Given that in many cases, autistic people report their personification experiences as distressing, it is important to consider the reasons for the increased personification and identify structures for support.
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25. Zengin-Akkus P, Taskiran EZ, Kabacam S, Simsek-Kiper PO, Haliloglu G, Boduroglu K, Utine GE. {{Clinical and molecular evaluation of 16 patients with Rett syndrome}}. {The Turkish journal of pediatrics}. 2018; 60(1): 1-9.
Zengin-Akkus P, Taskiran EZ, Kabacam S, Simsek-Kiper PO, Haliloglu G, Boduroglu K, Utine GE. Clinical and molecular evaluation of 16 patients with Rett syndrome. Turk J Pediatr 2018; 60: 1-9. Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2. The disease is characterized by early neurological regression following a normal initial development. The diagnosis is a clinical one, based on major and minor diagnostic criteria. This study, in a group of patients from a single tertiary center, aimed to evaluate the efficiency of clinical diagnosis and to see if there was a diagnostic delay. A second aim was to investigate genotype-phenotype correlations, based on Pineda scores. In this study, sixteen patients with a median age of 6.5 years (2.5-22 years) were included, following molecular confirmation of clinical diagnosis. The median age at the onset of symptoms and the median age at clinical diagnosis was 1.5 years and 2.5 years, respectively, the difference being statistically significant. Considering the Rett syndrome diagnostic criteria, initially regulated in 2002 and revised in 2010, seven and two patients in our group, respectively, did not meet the main criteria. Pineda scores among mutation groups were statistically not different. To conclude, the present study revealed presence of a diagnostic delay. The challenge may be that the patients do not exhibit full-blown clinical picture initially. No genotype-phenotype correlations were detected in clinical severity, as measured by Pineda scores. Moreover, the diagnostic criteria revised in 2010 are more comprehensive as compared to the 2002 criteria; however, further revision may increase diagnostic sensitivity.
