1. {{SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research}}. {Neuron}. 2018; 97(3): 488-93.
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Akgul GY, Ayaz AB, Yildirim B, Perdahli Fis N. {{Autistic Traits and Executive Functions in Children and Adolescents with Gender Dysphoria}}. {Journal of sex & marital therapy}. 2018: 0.
OBJECTIVE: We aimed to examine the autistic traits and executive functions that may require clinical attention in children and adolescents with gender dysphoria (GD). METHOD: The study sample consisted of 25 patients with GD, and 50 controls (aged 5-17 years). The instruments were Social Responsiveness Scale (SRS), and the Behavior Rating Inventory of Executive Function (BRIEF). RESULTS: The GD (mean age: 11.56+/-4.15 years) and control (mean age: 11.42+/-3.91 years) groups were similar with respect to age and sex; around 50% of the GD group (n=13) and control groups were male (n=26). The BRIEF metacognitive index (t= 7.023, p<0.001), behavioral regulation index (t= 6.340, p<0.001), and global executive composite (t= 7.268, p<0.001) scores were significantly higher in the GD group when compared with the controls. Similarly, mean SRS scores were significantly higher in the GD group (t= 4.978, p<0.001). The GD group had statistically significant higher BRIEF global scores even after controlling for SRS-key autism scores (p<0.001). CONCLUSION: Young people with GD had relatively more disturbed behavior related to executive functions and social impairment associated with autistic traits when compared with their control counterparts. Although preliminary, our results may indicate a possible neurodevelopmental background for individuals with GD. Lien vers le texte intégral (Open Access ou abonnement)
3. Chang JP, Lai MC, Chou MC, Shang CY, Chiu YN, Tsai WC, Wu YY, Gau SS. {{Maternal and Family Processes in Different Subgroups of Youth with Autism Spectrum Disorder}}. {Journal of abnormal child psychology}. 2018.
We compared the maternal reports on mothering and family processes between 160 youth with autism spectrum disorder (ASD) and 160 age and gender-matched typically developing (TD) youth stratified by personal characteristics from Taiwan. The ASD groups consisted of 51 ‘typical autism’ (TA), 52 ‘high-functioning autism’ (HFA), and 57 ‘Asperger syndrome (AS).’ Maternal reports showed that youth with ASD obtained less affection and more protection from the mother, and had less active mother-child interactions and more behavioral problems at home. Their mothers perceived less family support when compared to mothers of TD youth. Moreover, both TA and AS groups had more maternal protection and less maternal perceived family support, whereas HFA and co-occurring ADHD were only associated with more behavioral problems at home. The maternal and family process may vary across different ASD subgroups.
Lien vers le texte intégral (Open Access ou abonnement)
4. Crane L, Adams F, Harper G, Welch J, Pellicano E. {{‘Something needs to change’: Mental health experiences of young autistic adults in England}}. {Autism}. 2018: 1362361318757048.
There is a high incidence and prevalence of mental health problems among young people, with several barriers to help-seeking noted in this group. High rates of mental health problems have also been reported in children and adults on the autism spectrum. Taken together, young autistic people may be a particularly vulnerable group when it comes to mental health. Yet, there has been remarkably little work on the mental health needs and experiences of young autistic adults (16-25 years). Adopting a community-based participatory research (CBPR) approach – in which academic researchers and young autistic adults collaborated in an equitable research partnership – we explored young autistic people’s experiences of mental health problems and their perspectives on the support they sought, if any, for these problems. A total of 130 young autistic adults took part in the research: 109 completed an online survey and 21 took part in detailed interviews. The results highlight how young autistic people find it difficult to evaluate their mental health, experience high levels of stigma and often face severe obstacles when trying to access mental health support. The findings also demonstrate how listening to – and learning from – young autistic people is crucial in ensuring that their mental health needs are met.
Lien vers le texte intégral (Open Access ou abonnement)
5. de Boer A, Vermeulen K, Egger JIM, Janzing JGE, de Leeuw N, Veenstra-Knol HE, den Hollander NS, van Bokhoven H, Staal W, Kleefstra T. {{EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction}}. {Mol Autism}. 2018; 9: 5.
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. A few parents with a mosaic EHMT1 mutation have been detected upon testing after a child was diagnosed with a germline EHMT1 defect. At first glance, carriers of a mosaic EHMT1 mutation appeared to function normally. However, recent studies have shown that de novo, postzygotic mutations in important developmental genes significantly contribute to autism spectrum disorder (ASD). Therefore, we hypothesized that EHMT1 mosaicism could cause neuropsychiatric defects. To investigate this, we performed a detailed investigation of cognitive neuropsychiatric parameters in parents identified with EHMT1 mosaicism. Methods: Three adults (two males, one female) with a genetically confirmed diagnosis of EHMT1 mosaicism were examined by means of a battery of tests and observational instruments covering both neurocognitive and psychiatric features. The battery included the following instruments: the Autism Diagnostic Observation Schedule (ADOS), the mini Psychiatric Assessment Schedules for Adults with Developmental Disabilities (mini PAS-ADD), the Vineland Adaptive Behavior Scales (VABS), and the Cambridge Neuropsychological Test Automated Battery (CANTAB). These measures were compared with our previously reported data from Kleefstra syndrome patients with confirmed (germline) EHMT1 defects. Results: All three subjects achieved maximum total scores on the VABS, indicative of adequate (adaptive) functioning. In all, scores above cutoff were found on the ADOS for ASD and on the mini PAS-ADD for major depressive disorder (lifetime). Finally, results on the CANTAB showed impaired cognitive flexibility in all subjects. Conclusion: Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD and mood disorders. Although at first glance they appear to be well-adapted in their daily functioning, they may experience significant psychiatric symptoms and show reduced cognitive flexibility in comparison to the general population.
Lien vers le texte intégral (Open Access ou abonnement)
6. Field LM. {{ASDS International Surgical Fellowship Venues Being Established in New Program}}. {Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al]}. 2018.
Lien vers le texte intégral (Open Access ou abonnement)
7. Ghorbel R, Ghorbel R, Rouissi A, Fendri-Kriaa N, Ben Salah G, Belguith N, Ammar-Keskes L, Gouider-Khouja N, Fakhfakh F. {{First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation}}. {Biochemical and biophysical research communications}. 2018; 497(1): 93-101.
Rett syndrome is an X-linked neurodevelopmental disorder that develops a profound intellectual and motor disability and affects 1 from 10000 to 15000 live female births. This disease is characterized by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress which is caused by mutations occurred in the X-linked MECP2 gene, encoding the methyl-CpG binding protein 2. This research study reports a molecular analysis via an exhaustive gene sequencing which reveals an unusual novel double mutation (c.695G>T; c.880C>T) located in a highly conserved region in MECP2 gene affecting the transcription repression domain (TRD) of MeCP2 protein and leading for the first time to a severe phenotype of Rett syndrome. Moreover, a computational investigation of MECP2 mutations demonstrates that the novel mutation c.695G>T is highly deleterious which affects the MeCP2 protein showing also an adverse impact on MECP2 gene expression and resulting in an affected folding and decreased stability of MECP2 structures. Thus, the altered TRD domain engenders a disrupted process of MECP2 functions. Therefore, this is the first study which highlights a novel double mutation among the transcription repression domain (TRD) of MeCP2 protein in Rett patient with a severe clinical phenotype in North Africa region.
Lien vers le texte intégral (Open Access ou abonnement)
8. Goldsmith SF, Kelley E. {{Associations Between Emotion Regulation and Social Impairment in Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
In typically-developing (TD) individuals, effective emotion regulation strategies have been associated with positive outcomes in various areas, including social functioning. Although impaired social functioning is a core criterion of Autism Spectrum Disorder (ASD), the role of emotion regulation ability in ASD has been largely ignored. This study investigated the association between emotion regulation and ASD symptomatology, with a specific emphasis on social impairment. We used parent-report questionnaires to assess the regulatory strategies and symptom severity of 145 youth with ASD. Results showed that: (1) more effective emotion regulation, defined by greater use of reappraisal, predicted less severe ASD symptomatology, and (2) greater use of reappraisal predicted less severe social impairment. Suppression was not predictive of general symptomatology or social functioning.
Lien vers le texte intégral (Open Access ou abonnement)
9. Hansel C. {{Deregulation of synaptic plasticity in autism}}. {Neurosci Lett}. 2018.
A puzzling observation in the study of autism spectrum disorder (ASD) in mouse models has been the deregulation of long-term synaptic depression (LTD), a form of experience-dependent synaptic plasticity, across brain areas and across syndromic and non-syndromic forms of autism. This review attempts to approach this phenomenon from a largely, but not exclusively, cerebellar perspective. Three potential consequences of LTD deregulation are discussed that are relevant for ASD phenotypes: resulting impairment of proper developmental synaptic pruning, impairment of motor coordination and motor learning, and impairment of the processing of sensory input.
Lien vers le texte intégral (Open Access ou abonnement)
10. Heylens G, Aspeslagh L, Dierickx J, Baetens K, Van Hoorde B, De Cuypere G, Elaut E. {{The Co-occurrence of Gender Dysphoria and Autism Spectrum Disorder in Adults: An Analysis of Cross-Sectional and Clinical Chart Data}}. {J Autism Dev Disord}. 2018.
Quantitative studies indicate an overrepresentation of ASD in individuals with GD. This study aims to determine the prevalence of autistic traits or ASD in adults with GD using two different data collection methods: (1) cross-sectional data using the social responsiveness scale-adults (SRS-A) and the autism quotient (AQ) (n = 63). (2) Clinical chart data (n = 532). Mean SRS-A scores were significantly higher compared to a norm population. Almost 5% of the patients with GD scored above the cut-off as measured by the AQ. In 32 patients (6%), a certain ASD diagnosis was found in the patient files, which is sixfold higher compared to the general population. Significantly more « birth assigned male » were affected compared to « birth assigned female ».
Lien vers le texte intégral (Open Access ou abonnement)
11. Kolacz J, Raspa M, Heilman KJ, Porges SW. {{Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS)}}. {J Autism Dev Disord}. 2018.
Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center Sensory Scales (BBCSS), based on Polyvagal Theory. Parents/guardians reported on 333 individuals with FXS, 41% with ASD features. Factor structure using a split-sample exploratory-confirmatory design conformed to neurophysiological predictions. Internal consistency, test-retest, and inter-rater reliability were good to excellent. BBCSS subscales converged with the Sensory Profile and Sensory Experiences Questionnaire. However, data also suggest that BBCSS subscales reflect unique features related to sensory processing. Individuals with FXS and ASD features displayed more sensory challenges on most subscales.
Lien vers le texte intégral (Open Access ou abonnement)
12. Kumazaki H, Warren Z, Swanson A, Yoshikawa Y, Matsumoto Y, Takahashi H, Sarkar N, Ishiguro H, Mimura M, Minabe Y, Kikuchi M. {{Can Robotic Systems Promote Self-Disclosure in Adolescents with Autism Spectrum Disorder? A Pilot Study}}. {Frontiers in psychiatry}. 2018; 9: 36.
Research suggests that many individuals with autism spectrum disorder (ASD) often demonstrate challenges providing appropriate levels of information during conversational interchanges. Considering the preference of individuals with ASD, and recent rapid technological advances, robotic systems may yield promise in promoting certain aspects of conversation and interaction such as self-disclosure of appropriate personal information. In the current work, we evaluated personal disclosures of events with specific emotional content across two differing robotic systems (android and simplistic humanoid) and human interactions. Nineteen participants were enrolled in this study: 11 (2 women and 9 men) adolescents with ASD and 8 (4 women and 4 men) adolescents with TD. Each participant completed a sequence of three interactions in a random order. Results indicated differences regarding comfort level and length of disclosures between adolescents with ASD and typically developing (TD) controls in relation to system interactions. Specifically, adolescents with ASD showed a preference for interacting with the robotic systems compared to TD controls and demonstrated lengthier disclosures when interacting with the visually simple humanoid robot compared to interacting with human interviewer. The findings suggest that robotic systems may be useful in eliciting and promoting aspects of social communication such as self-disclosure for some individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
13. Lallar M, Rai A, Srivastava P, Mandal K, Gupta N, Kabra M, Phadke SR. {{Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls}}. {Indian pediatrics}. 2018.
OBJECTIVE: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN: Descriptive study. SETTING: Tertiary-care medical genetics center. PATIENTS: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010. Group II included girls with neuroregression and postnatal microcephaly and other Rett like features but not fulfilling the above criteria. PROCEDURE: Sanger sequencing of coding regions and large deletional analysis of MECP2 gene. MAIN OUTCOME MEASURE: Identification of mutation in MECP2 gene. RESULTS: Mutation in MECP2 gene was identified in 74% (14/19) in group I and none (0/17) in group II. The mutation detection rate was 92% (13/14) in group I classical Rett syndrome girls (2 with large deletions identified with Multiplex ligation dependent probe amplification) and 20% (1/5) in group I atypical Rett syndrome girls. One novel MECP2 sequence variation was identified in group I classical Rett syndrome. CONCLUSION: The yield of the mutation detection in MECP2 is much higher in classical than in atypical Rett syndrome. In girls with some Rett like features, but not fulfilling revised Rett syndrome diagnostic criteria, mutation testing for MECP2 gene has a low yield.
14. Lee RWY, Corley MJ, Pang A, Arakaki G, Abbott L, Nishimoto M, Miyamoto R, Lee E, Yamamoto S, Maunakea AK, Lum-Jones A, Wong M. {{A modified ketogenic gluten-free diet with MCT improves behavior in children with autism spectrum disorder}}. {Physiol Behav}. 2018; 188: 205-11.
Lien vers le texte intégral (Open Access ou abonnement)
15. Lo BH, Klopper F, Barnes E, Williams K. {{Autism Spectrum Disorder}}. {Journal of paediatrics and child health}. 2018; 54(2): 212-3.
Lien vers le texte intégral (Open Access ou abonnement)
16. Naguy A, Yahya B. {{Restricted and repetitive behaviours in autism spectrum disorder through a clinical lens!}}. {Asian J Psychiatr}. 2018; 31: 79-80.
Lien vers le texte intégral (Open Access ou abonnement)
17. Nah YH, Young RL, Brewer N. {{Development of a brief version of the Autism Detection in Early Childhood}}. {Autism}. 2018: 1362361318757563.
While autism spectrum disorder screening tools provide a useful resource for practitioners, the reality is they are underused. The justifications often provided include the time required for administration and the training involved. A brief tool with good psychometric properties that require minimal training is required. This study examined the development and the psychometric properties of a brief version of the Autism Detection in Early Childhood. The data showed the potential of the brief version of Autism Detection in Early Childhood for screening children age 12-36 months. Our dataset comprised 106 Diagnostic and Statistical Manual of Mental Disorders, 5th edition autism spectrum disorder, 86 non-typical development and 78 typical development participants age 12-36 months. Analyses comparing autism spectrum disorder and non-typical development groups supported the use of five critical items (i.e. response to name, social smiling, gaze switch, response to verbal command and use of gestures) to form the brief version Autism Detection in Early Childhood. The brief version of Autism Detection in Early Childhood’s optimal cutoff score of 4 had sensitivity of 0.81, specificity of 0.78, positive predictive value of 0.81 and negative predictive value of 0.78. However, the results would need to be viewed as preliminary given the nature of the study sample and the findings might not be generalisable to samples with higher levels of cognitive functioning.
Lien vers le texte intégral (Open Access ou abonnement)
18. Plavnick JB, Duenas AD. {{Brief Report: Effects of Video-Based Group Instruction on Spontaneous Social Interaction of Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
Four adolescents with autism spectrum disorder (ASD) were taught to interact with peers by asking social questions or commenting about others during game play or group activities. Participants were shown a video model and then given an opportunity to perform the social behavior depicted in the model when playing a game with one another. All participants demonstrated an increase in both social interaction skills, replicating previous research on video-based group instruction for adolescents with ASD. The results suggest the procedure may be useful for teaching social skills that occur under natural conditions.
Lien vers le texte intégral (Open Access ou abonnement)
19. Raz A, Jongsma KR, Rimon-Zarfaty N, Spath E, Bar-Nadav B, Vaintropov E, Schicktanz S. {{Representing autism: Challenges of collective representation in German and Israeli associations for and of autistic people}}. {Social science & medicine (1982)}. 2018; 200: 65-72.
The important work done by various associations of and for people with disabilities is legitimated by their claim for collective representation. However, there is little empirical research that examines the organizational basis for such claims. We focus on patient/disability advocacy associations that illustrate a split of representation between organizations of and for autism. Drawing on documentary analysis and semi-structured interviews conducted in 2015-2017 with members and office-holders of autism associations in Germany and Israel, we highlight several common gaps and their relations to the organizational characteristics of the associations: Representing only part of the autism spectrum, and lack of efficient procedures for including the variety of members. We conclude by discussing the language and epistemology of « high-functioning »/ »Aspies » vs. « low-functioning »/ »Kanners » as politically and culturally embedded, highlighting the significance and difficulties of dialogue amidst autism-related epistemic communities.
Lien vers le texte intégral (Open Access ou abonnement)
20. Sasson NJ, Morrison KE, Pinkham AE, Faso DJ, Chmielewski M. {{Brief Report: Adults with Autism are Less Accurate at Predicting How Their Personality Traits are Evaluated by Unfamiliar Observers}}. {J Autism Dev Disord}. 2018.
Social cognitive impairments in autism spectrum disorder (ASD) are well-documented, yet little research has examined whether ASD is also characterized by difficulties in meta-perception, or the ability to gauge how one is perceived. In this study, ASD and TD adults (N = 22) largely did not differ on the self-perception of their personality traits or on how they expected to be perceived by unfamiliar observers. However adults with ASD were rated less favorably by TD observers (N = 412) on 19 out of 20 personality items, and adults with ASD were less accurate at predicting how they would be perceived. These findings suggest impaired meta-perception in ASD that may serve as a potential mechanism through which reduced social cognitive ability contributes to social impairment.
Lien vers le texte intégral (Open Access ou abonnement)
21. Tomchek SD, Little LM, Myers J, Dunn W. {{Sensory Subtypes in Preschool Aged Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Given the heterogeneity of autism spectrum disorder (ASD), research has investigated how sensory features elucidate subtypes that enhance our understanding of etiology and tailored treatment approaches. Previous studies, however, have not integrated core developmental behaviors with sensory features in investigations of subtypes in ASD. Therefore, we used latent profile analysis to examine subtypes in a preschool aged sample considering sensory processing patterns in combination with social-communication skill, motor performance, and adaptive behavior. Results showed four subtypes that differed by degree and quality of sensory features, age and differential presentation of developmental skills. Findings partially align with previous literature on sensory subtypes and extends our understanding of how sensory processing aligns with other developmental domains in young children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
22. Wang W, Hu C, Bi X, Yuan H. {{[Analysis of 10 patients with duplications of 15q11q13 region and autism features]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2018; 35(1): 23-8.
OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features.METHODS Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for the patients and their parents.RESULTS Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and triplication of the 15q11q13 region by high-resolution CMA analysis. Two remaining patients had normal karyotypes but duplications of the 15q11q13 region. All duplications have encompassed the Prader Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number were not detected among the parents of the patients,suggesting a de novo origin for them. Analysis of SNP-array data of the family trios using Chromosome Analysis Suite Software found that the copy number gains have originated from the mothers.The diagnosis of 15q11q13 duplication syndrome was ascertained. For patients with SMC detected by karyotyping analysis,a FISH assay using probes specific for the 15q11q13 region showed that such SMC also derived from chromosome 15q11q13 region and contained two copy numbers, which was consistent with the result of CMA.CONCLUSION Ten patients with autism and 15q11q13 duplications were identified with combined karyotyping, CMA and FISH analysis. A phenotype – genotype correlation was established.
Lien vers le texte intégral (Open Access ou abonnement)
23. Xu RT, Chang QX, Wang QQ, Zhang J, Xia LX, Zhong N, Yu YH, Zhong M, Huang QT. {{Association between hypertensive disorders of pregnancy and risk of autism in offspring: a systematic review and meta-analysis of observational studies}}. {Oncotarget}. 2018; 9(1): 1291-301.
Background: Autism spectrum disorder (ASD) is a common severe pervasive neurodevelopmental disorder of undetermined etiology. Environmental exposures, especially pregnancy complications, have been increasingly recognized as a potential risk factor for ASD. Our aim was to (1) systematically evaluate the association between hypertensive disorders of pregnancy (HDP) and the risk of ASD in offspring, (2) specifically draw a subgroup analysis of disease severity in patients with HDP to achieve more sufficient evidence on this issue. Results: A total of 21 studies were identified with more than 6.5 million participants, including 31,027 ASD probands. A comparative meta-analysis established that offspring born premature to HDP were significantly associated with ASD than matched controls (OR = 1.42, 95% CI: 1.34-1.50). Subgroup analysis of clinical classification include: (1) gestational hypertension, (2) pre-eclampsia, (3) chronic hypertension complicating pregnancy (CHP). The offspring of mothers with pre-eclampsia and CHP have slightly higher risk (OR = 1.43; OR = 1.48, respectively) of ASD than those of mothers with gestational hypertension (OR = 1.37). In consistence with most previous researches, higher ASD prevalence was observed in male than female (OR = 1.38), indicating a potential role for gender in the pathophysiology of ASD. Materials and Methods: We conducted a systematic literature search on PubMed, EMBASE, Web of Science, PsycINFO database and China National Knowledge Infrastructure up to Jun. 2017. Statistical analysis was performed using Stata 10.0. Conclusions: This meta-analysis implies a possible link between HDP and the risk of ASD in offspring. However, further investigation should be conducted to confirm this conclusion, and intensive prenatal surveillance and early prediction for ASD is needed.
Lien vers le texte intégral (Open Access ou abonnement)
24. Zapata-Fonseca L, Froese T, Schilbach L, Vogeley K, Timmermans B. {{Sensitivity to Social Contingency in Adults with High-Functioning Autism during Computer-Mediated Embodied Interaction}}. {Behav Sci (Basel)}. 2018; 8(2).
Autism Spectrum Disorder (ASD) can be understood as a social interaction disorder. This makes the emerging « second-person approach » to social cognition a more promising framework for studying ASD than classical approaches focusing on mindreading capacities in detached, observer-based arrangements. According to the second-person approach, embodied, perceptual, and embedded or interactive capabilities are also required for understanding others, and these are hypothesized to be compromised in ASD. We therefore recorded the dynamics of real-time sensorimotor interaction in pairs of control participants and participants with High-Functioning Autism (HFA), using the minimalistic human-computer interface paradigm known as « perceptual crossing » (PC). We investigated whether HFA is associated with impaired detection of social contingency, i.e., a reduced sensitivity to the other’s responsiveness to one’s own behavior. Surprisingly, our analysis reveals that, at least under the conditions of this highly simplified, computer-mediated, embodied form of social interaction, people with HFA perform equally well as controls. This finding supports the increasing use of virtual reality interfaces for helping people with ASD to better compensate for their social disabilities. Further dynamical analyses are necessary for a better understanding of the mechanisms that are leading to the somewhat surprising results here obtained.
Lien vers le texte intégral (Open Access ou abonnement)
25. Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL, Jr., Bi W. {{Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability}}. {Am J Med Genet A}. 2018.
SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14-year-old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias. Both changes are within the CpG island in exon 21, separated by a 375 bp sequence. Next generation sequencing of PCR products revealed that the two variants are most frequently associated with each other. Sanger sequencing of the cloned PCR products further confirmed that both changes were on a single allele. The clinical presentation in this individual is consistent with other patients with a truncating mutation in exon 21, suggesting that the missense change contributes none or minimally to the phenotypes. This is the first report of two de novo mutations in one SHANK3 allele.
