1. Baumer N, Spence SJ. {{Evaluation and Management of the Child With Autism Spectrum Disorder}}. {Continuum (Minneapolis, Minn)}. 2018; 24(1, Child Neurology): 248-75.
PURPOSE OF REVIEW: Autism spectrum disorder is a neurodevelopmental disorder defined by deficits in social communication and the presence of restricted and repetitive behaviors and interests. This article provides the tools to diagnose and manage patients with autism spectrum disorder. RECENT FINDINGS: Autism spectrum disorder is a heterogeneous condition with varying presentations, multiple etiologies, and a number of comorbidities that impact the course and management of the disorder. This article defines the core features of social communication deficits, including problems with social reciprocity, decreased nonverbal communication, and difficulties in developing and maintaining relationships. The second domain of repetitive behaviors and restricted interests, which includes the presence of stereotyped behaviors or speech, insistence on sameness and behavioral rigidity, intense or out of the ordinary interests, and unusual responses to sensory stimulation, is also delineated. Comorbidities commonly seen with autism spectrum disorder include medical, neurologic, and psychiatric conditions. Despite intense research efforts, the etiology of autism spectrum disorder remains unknown in most cases, but it is clear that a strong genetic component exists that interacts with various environmental risk factors. Current research is identifying overlapping neurobiological pathways that are involved in pathogenesis. Treatment involves intensive behavioral therapy and educational programming along with traditional ancillary services, such as speech/language, occupational, and physical therapies. Psychopharmacologic treatments are also used to target certain symptoms and comorbid conditions. SUMMARY: Neurologists can play an important role in diagnosing autism spectrum disorder according to clinical criteria through a comprehensive evaluation that includes a thorough medical and developmental history, behavioral and play observations, and a review of standardized cognitive and language evaluations. Neurologists are also responsible for investigating etiologies, recommending and advocating for appropriate behavioral and educational interventions, and identifying and often managing comorbidities.
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2. Buja A, Volfovsky N, Krieger AM, Lord C, Lash AE, Wigler M, Iossifov I. {{Damaging de novo mutations diminish motor skills in children on the autism spectrum}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(8): E1859-e66.
In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaired motor skills. This correlation is not explained by a correlation between IQ and motor skills. We find that IQ and motor skills are distinctly associated with damaging mutations and, in particular, that motor skills are a more sensitive indicator of mutational severity than is IQ, as judged by mutational type and target gene. We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of either), moderate (impairment mainly to motor skills), and severe (impairment of both IQ and motor skills).
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3. Bullmann V, Granitzka M. {{[Blood management in complex reconstructive spine surgery in ASD patients : Do effective measures to reduce bleeding exist?]}}. {Der Orthopade}. 2018.
BACKGROUND: Blood management in reconstructive spine surgery is a challenge and must be managed interdisciplinarily. An experienced team of anesthesiologists and spine surgeons needs to work closely together. THERAPY: After optimal preoperative preparation, the patient is given an initial dose of 1000mg tranexamic acid. The most adequate medium blood pressure is about 80mmHg during surgery. The surgeon must watch for subperiosteal preparation and subtle stypsis. A cell saver is used. If the expected blood loss exceeds 1000ml, additional tranexamic acid of 1000mg/6h will be infused. Epidural bleeding as well as bony hemorrhage are challenges for the spine surgeon. Epidural veins should be coagulated under the microscope before they bleed. Bone wax should be used in bony bleeding. If bleeding is uncontrollable, industrially produced hemostyptics can be used. POST-TREATMENT: Postoperatively the risk of bleeding should be minimized under critical observation of coagulation and blood pressure. Also, a critical assessment of the anticoagulation is to be made. The drainage rate should be well documented. The surgeon must decide whether the drain is to be put on suction or on overflow. He must also decide when to remove the drainage.
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4. Cashin A, Yorke J. {{The Relationship between Anxiety, External Structure, Behavioral History and Becoming Locked into Restricted and Repetitive Behaviors in Autism Spectrum Disorder}}. {Issues in mental health nursing}. 2018: 1-5.
Restricted and repetitive behaviors (RRBs) are central to the diagnosis of autism spectrum disorder (ASD), yet there remains a paucity of research in this domain. What is clear is that people with ASD are vulnerable to getting locked into rigid patterns of thought and behavior that contribute to a lack of adaptation. This study utilized an online survey to explore the relationship between anxiety, external structure, the measurement of RRBs and behavioral history of being locked into RRBs. A significant relationship was identified between level of anxiety and a history of becoming locked into RRBs. The likelihood of becoming locked into RRBs increased at times of decreased external structure in the routine of people with ASD.
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5. Cataldo I, Azhari A, Esposito G. {{A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder}}. {Front Mol Neurosci}. 2018; 11: 27.
Oxytocin (OXT) and arginine-vasopressin (AVP) play a key regulatory part in social and affiliative behaviors; two aspects highly compromised in Autism Spectrum Disorder (ASD). Furthermore, variants in the adjacent oxytocin-vasopressin gene regions have been found to be associated with ASD diagnosis and endophenotypes. This review focuses mainly on common OXTr single nucleotide polymorphisms (SNPs), AVPR1a microsatellites and AVPR1b polymorphisms in relation to the development of autism. Although these genes did not surface in genome-wide association studies, evidence supports the hypothesis that these receptors and their polymorphisms are widely involved in the regulation of social behavior, and in modulating neural and physiological pathways contributing to the etiology of ASD. With a specific focus on variants considered to be among the most prevalent in the development of ASD, these issues will be discussed in-depth and suggestions to approach inconsistencies in the present literature will be provided. Translational implications and future directions are deliberated from a short-term and a forward-looking perspective. While the scientific community has made significant progress in enhancing our understanding of ASD, more research is required for the ontology of this disorder to be fully elucidated. By supplementing information related to genetics, highlighting the differences across male and female sexes, this review provides a wider view of the current state of knowledge of OXTr and AVPr mechanisms of functioning, eventually addressing future research in the identification of further risk factors, to build new strategies for early interventions.
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6. Dando CJ, Ormerod TC, Cooper P, Marchant R, Mattison M, Milne R, Bull R. {{No Evidence Against Sketch Reinstatement of Context, Verbal Labels or the Use of Registered Intermediaries for Children with Autism Spectrum Disorder: Response to Henry et al. (2017)}}. {J Autism Dev Disord}. 2018.
Recently, Henry et al. (J Autism Dev Disord 8:2348-2362, 2017) found no evidence for the use of Verbal Labels, Sketch Reinstatement of Context and Registered Intermediaries by forensic practitioners when interviewing children with a diagnosis of autism spectrum disorder. We consider their claims, noting the limited ecological validity of the experimental paradigm, the impacts of repeated interviewing where retrieval support is not provided at first retrieval, question the interviewer/intermediary training and their population relevant experience, and comment on the suppression of population variances. We submit that rejecting these techniques on the basis of this study is completely unwarranted and potentially damaging, particularly if used in legal proceedings to undermine the value of testimony from children with ASD, who continually struggle to gain access to justice.
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7. D’Annessa I, Gandaglia A, Brivio E, Stefanelli G, Frasca A, Landsberger N, Di Marino D. {{Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation}}. {Biochimica et biophysica acta}. 2018; 1862(5): 1180-9.
Mutations in the X-linked MECP2 gene represent the main origin of Rett syndrome, causing a profound intellectual disability in females. MeCP2 is an epigenetic transcriptional regulator containing two main functional domains: a methyl-CpG binding domain (MBD) and a transcription repression domain (TRD). Over 600 pathogenic mutations were reported to affect the whole protein; almost half of missense mutations affect the MBD. Understanding the impact of these mutations on the MBD structure and interaction with DNA will foster the comprehension of their pathogenicity and possibly genotype/phenotype correlation studies. Herein, we use molecular dynamics simulations to obtain a detailed view of the dynamics of WT and mutated MBD in the presence and absence of DNA. The pathogenic mutation Y120D is used as paradigm for our studies. Further, since the Y120 residue was previously found to be a phosphorylation site, we characterize the dynamic profile of the MBD also in the presence of Y120 phosphorylation (pY120). We found that addition of a phosphate group to Y120 or mutation in aspartic acid affect domain mobility that samples an alternative conformational space with respect to the WT, leading to impaired ability to interact with DNA. Experimental assays showing a significant reduction in the binding affinity between the mutated MBD and the DNA confirmed our predictions.
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8. Davidson D, Hilvert E, Misiunaite I, Giordano M. {{Proneness to guilt, shame, and pride in children with Autism Spectrum Disorders and neurotypical children}}. {Autism Res}. 2018.
Self-conscious emotions (e.g., guilt, shame, and pride) are complex emotions that require self-reflection and self-evaluation, and are thought to facilitate the maintenance of societal norms and personal standards. Despite the importance of self-conscious emotions, most research has focused on basic emotion processing in children with Autism Spectrum Disorders (ASD). Therefore, in the present study, we used the Test of Self-Conscious Affect for Children (TOSCA-C) to assess proneness to, or propensity to experience, the self-conscious emotions guilt, shame, and pride in children with ASD and neurotypical children. The TOSCA-C is designed to capture a child’s natural tendency to experience a given emotion across a range of everyday situations [Tangney, Stuewig, & Mashek, 2007]. We also assessed how individual characteristics contribute to the development of proneness to self-conscious emotions, including theory of mind (ToM) and ASD symptomatology. In comparison to neurotypical children, children with ASD showed less proneness to guilt, although all children showed relatively high levels of proneness to guilt. Greater ToM ability was related to more proneness to guilt and authentic pride in children with ASD. Additionally, we found that children with ASD with more severe symptomatology were more prone to hubristic pride. Our results provide evidence of differences in proneness to self-conscious emotions in children with ASD, as well as highlight important mechanisms contributing to how children with ASD may experience self-conscious emotions. Autism Res 2017,4. (c)2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This research examined proneness to guilt, shame, and pride in children with Autism Spectrum Disorders (ASD) and neurotypical children. We found that children with ASD showed less proneness to guilt than neurotypical children. Better understanding of theory of mind was related to greater proneness to guilt and pride, but only for children with ASD. These findings are important because these complex emotions are linked with both positive and negative social behaviors towards others and oneself.
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9. Freeth M, Bugembe P. {{Social partner gaze direction and conversational phase; factors affecting social attention during face-to-face conversations in autistic adults?}}. {Autism}. 2018: 1362361318756786.
Social attention is atypical in autism. However, the majority of evidence for this claim comes from studies where the social partner is not physically present and the participants are children. Consequently, to ensure acquisition of a comprehensive overview of social attention in autism, systematic analysis of factors known to influence face-to-face social attention in neurotypicals is necessary and evidence from adulthood is required. This study assessed the influence of experimenter gaze direction (direct or averted) and conversational phase (speaking or listening) on social attention during a face-to-face conversation. Eye-tracking analyses indicated that when the experimenter looked directly at the participant, autistic adults looked at the experimenter’s face less than did neurotypical adults. However, this between-group difference was significantly reduced when the experimenter’s gaze was averted. Therefore, opportunities for reciprocal social gaze are missed by autistic adults when the social partner makes direct eye contact. A greater proportion of time was spent fixating the experimenter’s eye region when participants were speaking compared to listening in both neurotypical and autistic adults. Overall, this study provides a rich picture of the nature of social attention in face-to-face conversations adopted by autistic adults and demonstrates individual variation in social attention styles.
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10. Hotez E, Shane-Simpson C, Obeid R, DeNigris D, Siller M, Costikas C, Pickens J, Massa A, Giannola M, D’Onofrio J, Gillespie-Lynch K. {{Designing a Summer Transition Program for Incoming and Current College Students on the Autism Spectrum: A Participatory Approach}}. {Front Psychol}. 2018; 9: 46.
Students with Autism Spectrum Disorder (ASD) face unique challenges transitioning from high school to college and receive insufficient support to help them navigate this transition. Through a participatory collaboration with incoming and current autistic college students, we developed, implemented, and evaluated two intensive week-long summer programs to help autistic students transition into and succeed in college. This process included: (1) developing an initial summer transition program curriculum guided by recommendations from autistic college students in our ongoing mentorship program, (2) conducting an initial feasibility assessment of the curriculum [Summer Transition Program 1 (STP1)], (3) revising our initial curriculum, guided by feedback from autistic students, to develop a curriculum manual, and (4) pilot-testing the manualized curriculum through a quasi-experimental pre-test/post-test assessment of a second summer program [Summer Transition Program 2 (STP2)]. In STP2, two autistic college students assumed a leadership role and acted as « mentors » and ten incoming and current autistic college students participated in the program as « mentees. » Results from the STP2 pilot-test suggested benefits of participatory transition programming for fostering self-advocacy and social skills among mentees. Autistic and non-autistic mentors (but not mentees) described practicing advanced forms of self-advocacy, specifically leadership, through their mentorship roles. Autistic and non-autistic mentors also described shared (e.g., empathy) and unique (an intuitive understanding of autism vs. an intuitive understanding of social interaction) skills that they contributed to the program. This research provides preliminary support for the feasibility and utility of a participatory approach in which autistic college students are integral to the development and implementation of programming to help less experienced autistic students develop the self-advocacy skills they will need to succeed in college.
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11. Kiami SR, Goodgold S. {{Support Needs and Coping Strategies as Predictors of Stress Level among Mothers of Children with Autism Spectrum Disorder}}. {Autism research and treatment}. 2017; 2017: 8685950.
This study examined maternal stress, coping strategies, and support needs among mothers of children with Autism Spectrum Disorder (ASD). A convenience sample of 70 mothers completed the Parent Stress Index Short Form (PSI-SF), Coping Health Inventory for Parents (CHIP), and Modified Family Needs Questionnaire (FNQ). PSI-SF scores reflected clinically significant levels of stress for 77% of mothers, and mothers identified 62.4% of important needs as unmet. The five most frequently reported important unmet needs were (1) financial support; (2) break from responsibilities; (3) understanding of other after-school program children; (4) rest/sleep; (5) help remaining hopeful about the future. Most coping strategies (81%) were identified as helpful. Additionally, both coping strategies and support needs served as predictors for maternal stress. Maternal stress scores decreased by .402 points for each percent increase in helpful coping strategy, and stress scores increased by .529 points with each percent increase in unmet needs. Given large variation in questionnaire responses across participants and studies, utilization of user-friendly questionnaires, such as the PSI-SF, CHIP, and FNQ, is advocated to determine the evolving important needs unique to each family over the child’s lifetime as well as guide prioritization of care, compilation of resources, and referrals for additional services.
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12. Knuppel A, Jakobsen H, Lauritsen MB, Telleus GK. {{Psychometric properties of the INICO-FEAPS scale in a Danish sample with autism spectrum disorders}}. {Res Dev Disabil}. 2018; 75: 11-21.
BACKGROUND: There is a need to evaluate subjective perspectives of outcomes, such as quality of life (QoL), in individuals with autism spectrum disorders (ASD), but to date, there is no specific instrument available to assess this population. While the INICO-FEAPS scale is customized for studying QoL in adolescents and adults with intellectual and/or developmental disabilities, this scale has not been previously evaluated in an ASD population. AIMS: To examine the usability of the INICO-FEAPS scale in a Danish population of adolescents and adults with ASD. METHODS: In a nationwide survey, 875 adolescents and adults with ASD and 1573 parents completed the INICO-FEAPS scale. Internal consistency was evaluated through several indices. Confirmatory factor analysis (CFA) was conducted to investigate the fit of the model with eight correlated first-order factors, and convergent validity was explored comparing the results of different QoL measures through correlation analysis. RESULTS: Internal consistency was adequate for the indices applied, and the CFA model tested indicated an acceptable fit to the data. Generally, comparisons of results of different QoL measures resulted in moderate to high correlations. CONCLUSION: Overall, it was concluded that due to the psychometric properties found, the INICO-FEAPS scale is applicable for use in ASD populations.
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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. Li EH, Zhao X, Zhang C, Liu W. {{Fragile X mental retardation protein participates in non-coding RNA pathways}}. {Yi chuan = Hereditas}. 2018; 40(2): 87-94.
Fragile X syndrome is one of the most common forms of inherited intellectual disability. It is caused by mutations of the Fragile X mental retardation 1(FMR1) gene, resulting in either the loss or abnormal expression of the Fragile X mental retardation protein (FMRP). Recent research showed that FMRP participates in non-coding RNA pathways and plays various important roles in physiology, thereby extending our knowledge of the pathogenesis of the Fragile X syndrome. Initial studies showed that the Drosophila FMRP participates in siRNA and miRNA pathways by interacting with Dicer, Ago1 and Ago2, involved in neural activity and the fate determination of the germline stem cells. Subsequent studies showed that the Drosophila FMRP participates in piRNA pathway by interacting with Aub, Ago1 and Piwi in the maintenance of normal chromatin structures and genomic stability. More recent studies showed that FMRP is associated with lncRNA pathway, suggesting a potential role for the involvement in the clinical manifestations. In this review, we summarize the novel findings and explore the relationship between FMRP and non-coding RNA pathways, particularly the piRNA pathway, thereby providing critical insights on the molecular pathogenesis of Fragile X syndrome, and potential translational applications in clinical management of the disease.
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15. Lin QX, Wu GH, Zhang L, Wang ZJ, Pan N, Xu CJ, Jing J, Jin Y. {{[Abnormal processing characteristics to basic emotional faces in the early phase in children with autism spectrum disorder]}}. {Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics}. 2018; 20(2): 134-9.
OBJECTIVE: To explore the recognition ability and abnormal processing characteristics to basic emotional faces in the early phase in children with autism spectrum disorders (ASD). METHODS: Photos of Chinese static faces with four basic emotions (fearful, happy, angry and sad) were used as stimulus. Twenty-five ASD children and twenty-two age- and gender-matched typical developed children (normal controls) were asked to match the emotional faces with words. Event-related potential (ERP) data were recorded concurrently. RESULTS: N170 latencies for total emotion and fearful face in the left temporal region were faster than in the right one in normal controls (P<0.05), but the results were not noted in ASD children. Further, N170 latencies in the left temporal region of ASD children were slower than normal controls for total emotion, fearful and happy faces (P<0.05), and their N170 latencies in the right temporal region were prone to slower than normal controls for angry and fearful faces. CONCLUSIONS: The holistic perception speed of emotional faces in the early cognitive processing phase in ASD children is slower than normal controls. The lateralized response in the early phase of recognizing emotional faces may be aberrant in children with ASD. Lien vers Pubmed
16. Manor-Binyamini I, Shoshana A. {{Listening to Bedouin Mothers of Children with Autism}}. {Culture, medicine and psychiatry}. 2018.
This article examines how Bedouin mothers in Israel describe, perceive, and interpret their experiences raising a child with autism. Data were collected using semi-structured ethnographic interviews with 18 Bedouin mothers of children with autism, aged 6-16, living in recognized and unrecognized settlements in the Negev. Analysis of the study findings shows how the subaltern status of Bedouin women, which includes their husbands’ constant threats of divorce or taking a second wife, makes it difficult for them to be mobile and interact in the public sphere without the presence of a man and creates an experience unique to these mothers, which we call « Exclusion within Exclusion ». The Bedouin mothers report not only stigmatization, a lack of social support and loneliness but also structural-cultural characteristics that prevent them from obtaining information and participating in decision-making about the child with autism and that restrict their agency in dealing with and coping with their child’s autism. In light of this situation, the discussion highlights the unique connection between local cultural scripts and the phenomenology of autism.
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17. Mehrazad-Saber Z, Kheirouri S, Noorazar SG. {{Effects of L- Carnosine Supplementation on Sleep Disorders and Disease Severity in Autistic Children: A Randomized, Controlled Clinical Trial}}. {Basic & clinical pharmacology & toxicology}. 2018.
Sleep disorders are frequently reported in autistic patients. Evidences suggest that increased oxidative stress and reduced antioxidants may play a major role in the pathogenesis of these disorders. Carnosine acts as an antioxidant, antitoxic and neuroprotective agent. The aim of this trial study was to examine the effects of carnosine supplementation on the sleep disorders and severity of autism core symptoms in autistic patients. In this double-blind, randomized clinical trial, 43 autistic patients (31 boys and 12 girls; aged 4 to 16 years) were divided into two groups of carnosine and control that received 500 mg of carnosine and 500 mg of placebo per day for two months, respectively. Sleep disorders was measured using Children’s Sleep Habits Questionnaires. Gilliam Autism Rating Scale 2 was used to assess the effects of carnosine supplementation on the autism severity. Carnosine supplementation did not change anthropometric indices (p>0.05) and showed no effect on autism severity (p>0.05), whereas it significantly reduced sleep duration (p=0.04), parasomnias (p=0.02) and total sleep disorders score by 7.59% (p=0.006) when compared with the control group. The results suggest that carnosine supplementation could be effective in improving sleep disturbances, in particular sleep duration and parasomnias subscales. This article is protected by copyright. All rights reserved.
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18. Montes G. {{Having Older Siblings Is Associated with Lower Rates of Depression, ADD/ADHD, Anxiety and Behavior Problems Among Children with ASD}}. {Maternal and child health journal}. 2018.
Objective Within the social determinants of mental health framework, this article investigated whether children with ASD who have older siblings are less likely to experience depression, anxiety, behavior problems or have ADD/ADHD after controlling for standard social determinants of mental health such as household income, parental education and adverse childhood experiences (ACEs). Methods Using the National Survey of Children’s Health 2011-2012, children with ASD spectrum disorders (n = 1624) were categorized into three groups: only child, oldest child and has older siblings. Design corrected cross-tabulations, univariate and multivariate logistic regressions were estimated. Results The three groups of children with ASD were comparable in demographic characteristics (except age), ACEs, and parent-reported ASD severity. Children with ASD who had older siblings were significantly less likely to experience depression, anxiety or behavior problems. They were also less likely to have been diagnosed with ADD or ADHD. Adjusted odds ratios ranged from 0.12 to 0.53 indicating robust associations. Conclusions for Practice Children with ASD who have older siblings were less likely to have comorbid mental health disorders than other children with ASD. Conversely, oldest and only children with ASD were at increased risk for these disorders. Further research is needed to understand how this protection is conferred on children with ASD, and whether it can be adapted into interventions for only and oldest children with ASD.
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19. Ninci J, Rispoli M, Neely LC, Guz S. {{Transferring picture exchange requests to receptive identification for children with ASD}}. {Dev Neurorehabil}. 2018; 21(3): 178-87.
The purpose of this study was to evaluate a procedure to transfer stimulus control from picture exchange requests to receptive identification. Three children with autism spectrum disorder (ASD) and absent receptive identification repertoires participated. An adapted alternating treatment design was used. During intervention, two high-preferred and two low-preferred targets were available during picture exchange requesting sessions. Participants requested primarily for one or both high-preferred targets. During receptive identification instructional sessions, one participant acquired one high-preferred target, one participant acquired all targets, and one participant demonstrated no improvements. Generalization to novel examples of targets was assessed pre- and post-intervention and programmed if necessary. One participant generalized his acquired high-preferred target without programming. Another participant generalized a high-preferred and a low-preferred target without programming, and acquired a high-preferred target with programming. Potential benefits of this intervention and suggestions for future research are presented.
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20. Ocakoglu FT, Kose S, Ozbaran B, Onay H. {{The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study}}. {Asian J Psychiatr}. 2018.
INTRODUCTION: Previous studies showed the association of Autism Spectrum Disorder (ASD) and oxytocin receptor (OXTR) gene. We aimed to explore the OXTR gene single nucleotide polymorphisms (SNPs) across the ASD severity categories based on DSM-5. METHOD: The whole encoding regions of the human OXTR gene were sequenced to identify the SNPs in 100 Turkish children with ASD. Genotypes of detected SNPs were also compared with the Childhood Autism Rating Scale (CARS) scores. RESULTS: Disease severity of the patients carrying GA and AA genotypes (GA/AA) of rs237902 were found more severe compared to those carrying GG genotype (chi(2)=6.456, df=2, p=.040). This finding was more powerful in boys (chi(2)=9.288, df=2, p=.010). Similarly, GA/AA genotypes of rs237902 were found associated with higher CARS scores in boys (U=650.5, r=0.24, p=.021). CONCLUSION: Significant relationship between the ASD severity categories of DSM-5 and rs237902 was shown for the first time.
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21. Ouellette-Kuntz H, Martin L, McKenzie K. {{Rate of deficit accumulation in home care users with intellectual and developmental disabilities}}. {Annals of epidemiology}. 2018.
PURPOSE: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD). METHODS: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015. Rates of deficit accumulation were calculated across variables of interest. Incidence rate ratios and 95% confidence intervals are presented. Negative binomial regression models using a generalized estimating equation (GEE) approach were developed. RESULTS: Increasing age, Down syndrome, and living in a group home were significant predictors of deficit accumulation. Rates of deficit accumulation tended to be higher among prefrail and frail individuals; however, impaired cognition and impairment in activities of daily living were associated with slower deficit accumulation. The relationship between provision of nursing and therapy services and deficit accumulation is unclear. CONCLUSIONS: Frailty should be monitored among adults with IDD starting at age 40 years, those with Down syndrome, and those who live in group homes.
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22. Quartier A, Chatrousse L, Redin C, Keime C, Haumesser N, Maglott-Roth A, Brino L, Le Gras S, Benchoua A, Mandel JL, Piton A. {{Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder}}. {Biol Psychiatry}. 2018.
BACKGROUND: Prenatal exposure to androgens during brain development in male individuals may participate to increase their susceptibility to develop neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability. However, little is known about the action of androgens in human neural cells. METHODS: We used human neural stem cells differentiated from embryonic stem cells to investigate targets of androgens. RESULTS: RNA sequencing revealed that treatment with dihydrotestosterone (DHT) leads to subtle but significant changes in the expression of about 200 genes, encoding proteins of extracellular matrix or involved in signal transduction of growth factors (e.g., insulin/insulin growth factor 1). We showed that the most differentially expressed genes (DEGs), RGCC, RNF144B, NRCAM, TRIM22, FAM107A, IGFBP5, and LAMA2, are reproducibly regulated by different androgens in different genetic backgrounds. We showed, by overexpressing the androgen receptor in neuroblastoma cells SH-SY5Y or knocking it down in human neural stem cells, that this regulation involves the androgen receptor. A chromatin immunoprecipitation combined with direct sequencing analysis identified androgen receptor-bound sequences in nearly half of the DHT-DEGs and in numerous other genes. DHT-DEGs appear enriched in genes involved in ASD (ASXL3, NLGN4X, etc.), associated with ASD (NRCAM), or differentially expressed in patients with ASD (FAM107A, IGFBP5). Androgens increase human neural stem cell proliferation and survival in nutrient-deprived culture conditions, with no detectable effect on regulation of neurite outgrowth. CONCLUSIONS: We characterized androgen action in neural progenitor cells, identifying DHT-DEGs that appear to be enriched in genes related to ASD. We also showed that androgens increase proliferation of neuronal precursors and protect them from death during their differentiation in nutrient-deprived conditions.
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23. Rosman NP, Vassar R, Doros G, DeRosa J, Froman A, DiMauro A, Santiago S, Abbott J. {{Association of Prenatal Ultrasonography and Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
Importance: The prevalence of autism spectrum disorder (ASD) has been increasing rapidly, with current estimates of 1 in 68 children affected. Simultaneously, use of prenatal ultrasonography has increased substantially, with limited investigation into its safety and effects on brain development. Animal studies have demonstrated that prenatal ultrasonography can adversely affect neuronal migration. Objective: To quantify prenatal ultrasound exposure by the frequency, timing, duration, and strength of ultrasonographic scans in children with later ASD, developmental delay, and typical development. Design, Setting, and Participants: This case-control study included 107 patients with ASD, 104 control individuals with developmental delay, and 209 controls with typical development. Participants were identified from medical records based on prenatal care and delivery at Boston Medical Center, a diverse, academic, safety-net medical center, from July 1, 2006, through December 31, 2014, with a gestational age at birth of at least 37 weeks. Data were analyzed from May 1, 2015, through November 30, 2017. Exposures: Ultrasonographic exposure was quantified by the number and timing of scans, duration of exposure, mean strength (depth, frame rate, mechanical index, and thermal index), and time of Doppler and 3- and 4-dimensional imaging. Main Outcomes and Measures: Among participants with ASD and controls with developmental delay and typical development, ultrasound exposure was quantified and compared per trimester and for the entire pregnancy, with adjustment for infant sex, gestational age at birth, and maternal age. Results: A total of 420 participants were included in the study (328 boys [78.1%] and 92 girls [21.9%]; mean age as of January 1, 2016, 6.6 years; 95% CI, 6.5-6.8 years). The ASD group received a mean of 5.9 scans (95% CI, 5.2-6.6), which was not significantly different from the 6.1 scans (95% CI, 5.4-6.8) in the developmental delay group or the 6.3 scans (95% CI, 5.8-6.8) in the typical development group. Compared with the typical development group, the ASD group had shorter duration of ultrasound exposure during the first (290.4 seconds [95% CI, 212.8-368.0 seconds] vs 406.4 seconds [95% CI, 349.5-463.3 seconds]) and second (1687.6 seconds [95% CI, 1493.8-1881.4 seconds] vs 2011.0 seconds [95% CI, 1868.9-2153.1 seconds]) trimesters but no difference in the number of scans. The ASD group had greater mean depth of ultrasonographic penetration than the developmental delay group in the first trimester (12.5 cm [95% CI, 12.0-13.0 cm] vs 11.6 cm [95% CI, 11.1-12.1 cm]). The ASD group had greater mean depth than the typical development group during the first (12.5 cm [95% CI, 12.0-13.0 cm] vs 11.6 cm [95% CI, 11.3-12.0 cm]) and the second (12.9 cm [95% CI, 12.6-13.3 cm] vs 12.5 cm [95% CI, 12.2-12.7 cm]) trimesters. Conclusions and Relevance: This study found significantly greater mean depth of ultrasonographic penetration in the ASD group compared with the developmental delay group in the first trimester and compared with the typical development group in the first and second trimesters. Further research is needed to determine whether other variables of ultrasound exposure also have adverse effects on the developing fetus.
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24. Samad MD, Diawara N, Bobzien JL, Harrington JW, Witherow MA, Iftekharuddin KM. {{A Feasibility Study of Autism Behavioral Markers in Spontaneous Facial, Visual, and Hand Movement Response Data}}. {IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society}. 2018; 26(2): 353-61.
Autism spectrum disorder (ASD) is a neurodevelopmental disability with atypical traits in behavioral and physiological responses. These atypical traits in individuals with ASD may be too subtle and subjective to measure visually using tedious methods of scoring. Alternatively, the use of intrusive sensors in the measurement of psychophysical responses in individuals with ASD may likely cause inhibition and bias. This paper proposes a novel experimental protocol for non-intrusive sensing and analysis of facial expression, visual scanning, and eye-hand coordination to investigate behavioral markers for ASD. An institutional review board approved pilot study is conducted to collect the response data from two groups of subjects (ASD and control) while they engage in the tasks of visualization, recognition, and manipulation. For the first time in the ASD literature, the facial action coding system is used to classify spontaneous facial responses. Statistical analyses reveal significantly (p <0.01) higher prevalence of smile expression for the group with ASD with the eye-gaze significantly averted (p<0.05) from viewing the face in the visual stimuli. This uncontrolled manifestation of smile without proper visual engagement suggests impairment in reciprocal social communication, e.g., social smile. The group with ASD also reveals poor correlation in eye-gaze and hand movement data suggesting deficits in motor coordination while performing a dynamic manipulation task. The simultaneous sensing and analysis of multimodal response data may provide useful quantitative insights into ASD to facilitate early detection of symptoms for effective intervention planning. Lien vers le texte intégral (Open Access ou abonnement)
25. Soke GN, Rosenberg SA, Rosenberg CR, Vasa RA, Lee LC, DiGuiseppi C. {{Brief Report: Self-Injurious Behaviors in Preschool Children with Autism Spectrum Disorder Compared to Other Developmental Delays and Disorders}}. {J Autism Dev Disord}. 2018.
We compared the prevalence of self-injurious behaviors (SIB) in preschoolers aged 30-68 months with autism spectrum disorder (ASD) (n = 691) versus other developmental delays and disorders (DD) (n = 977) accounting for sociodemographic, cognitive, and medical factors. SIB prevalence was higher in ASD versus all DD [adjusted odds-ratio (aOR) 2.13 (95% confidence interval (95% CI) 1.53, 2.97)]. In subgroup analyses, SIB prevalence was higher in ASD versus DD without ASD symptoms [aOR 4.42 (95% CI 2.66, 7.33)], but was similar between ASD and DD with ASD symptoms [aOR 1.09 (95% CI 0.68, 1.77)]. We confirmed higher prevalence of SIB in ASD versus DD, independent of confounders. In children with DD, SIB prevalence increased with more ASD symptoms. These findings are informative to clinicians, researchers, and policymakers.
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26. Sparaci L, Northrup JB, Capirci O, Iverson JM. {{From Using Tools to Using Language in Infant Siblings of Children with Autism}}. {J Autism Dev Disord}. 2018.
Forty-one high-risk infants (HR) with an older sibling with autism spectrum disorder (ASD) were observed longitudinally at 10, 12, 18 and 24 months of age during a tool use task in a play-like scenario. Changes in grasp types and functional actions produced with a spoon were assessed during elicited tool use. Outcome and vocabulary measures were available at 36 months, distinguishing: 11 HR-ASD, 15 HR-language delay and 15 HR-no delay. Fewer HR-ASD infants produced grasp types facilitating spoon use at 24 months and functional actions at 10 months than HR-no delay. Production of functional actions in HR infants at 10 months predicted word comprehension at 12 months and word production at 24 and 36 months.
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27. Thabtah F. {{Machine learning in autistic spectrum disorder behavioral research: A review and ways forward}}. {Informatics for health & social care}. 2018: 1-20.
Autistic Spectrum Disorder (ASD) is a mental disorder that retards acquisition of linguistic, communication, cognitive, and social skills and abilities. Despite being diagnosed with ASD, some individuals exhibit outstanding scholastic, non-academic, and artistic capabilities, in such cases posing a challenging task for scientists to provide answers. In the last few years, ASD has been investigated by social and computational intelligence scientists utilizing advanced technologies such as machine learning to improve diagnostic timing, precision, and quality. Machine learning is a multidisciplinary research topic that employs intelligent techniques to discover useful concealed patterns, which are utilized in prediction to improve decision making. Machine learning techniques such as support vector machines, decision trees, logistic regressions, and others, have been applied to datasets related to autism in order to construct predictive models. These models claim to enhance the ability of clinicians to provide robust diagnoses and prognoses of ASD. However, studies concerning the use of machine learning in ASD diagnosis and treatment suffer from conceptual, implementation, and data issues such as the way diagnostic codes are used, the type of feature selection employed, the evaluation measures chosen, and class imbalances in data among others. A more serious claim in recent studies is the development of a new method for ASD diagnoses based on machine learning. This article critically analyses these recent investigative studies on autism, not only articulating the aforementioned issues in these studies but also recommending paths forward that enhance machine learning use in ASD with respect to conceptualization, implementation, and data. Future studies concerning machine learning in autism research are greatly benefitted by such proposals.
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28. Tonnsen BL, Richards JE, Roberts JE. {{Heart rate-defined sustained attention in infants at risk for autism}}. {J Neurodev Disord}. 2018; 10(1): 7.
BACKGROUND: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone. The present study aimed to examine the characteristics and clinical correlates of HRDSA in high-risk infants, informing whether HRDSA may operate as a promising biological measure of attention and clinical symptoms in this population. METHODS: We examined age-related patterns of HRDSA during a passive looking task in 5- to 14-month-old high-risk infant siblings of children with autism (n = 21) compared to low-risk controls (n = 21), with most participants contributing multiple assessments. Emergent autism features were measured using the Autism Diagnostic Observation Schedule at 24 months. Primary dependent variables included the proportion of time in behavioral attention, proportion of time in HRDSA, and average heart rate deceleration during HRDSA. For each variable, we used nested multilevel models to examine whether attention differed by group, as well as whether attention predicted emergent autism features among high-risk infant siblings. RESULTS: As expected, HRDSA served as a global biological measure of attention in high-risk infants, predicting greater variability in group risk status than behavioral looking alone. Among high-risk infants, more severe ASD features were also associated with increasingly shallow heart rate deceleration during HRDSA across development, suggesting abnormal qualities of HRDSA may inform individual differences within this population. CONCLUSIONS: These preliminary findings provide initial evidence that HRDSA may offer a sensitive, affordable, and portable biological measure of attention that may enhance understanding of atypical attention in high-risk infants. Using this method, we also provide initial evidence that atypical patterns of heart activity previously reported in children and adults with autism may emerge in the first year of life, warranting further study of how HRDSA may specifically inform attention profiles in ASD.
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29. Webb SJ, Mourad PD. {{Prenatal Ultrasonography and the Incidence of Autism Spectrum Disorder}}. {JAMA Pediatr}. 2018.
