1. Adams LW. {{B. Siegel: The Politics of Autism : Oxford University Press, 2018, xix + 325 pp including bibliographic references and index, ISBN 9780199360994, $29.95 (hardcover)}}. {J Autism Dev Disord}. 2019.
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2. Alzrayer NM, Banda DR, Koul RK. {{The Effects of Systematic Instruction in Teaching Multistep Social-Communication Skills to Children with Autism Spectrum Disorder Using an iPad}}. {Dev Neurorehabil}. 2019: 1-15.
OBJECTIVE: Tablets have successfully been used with individuals with autism spectrum disorder (ASD) and other developmental disabilities to request preferred items, label objects, share information, and engage in social interactions. However, there are limited data on the efficacy of utilizing such devices to teach multistep social-communication skills. METHOD: We used nonconcurrent multiple baseline design across behaviors to examine the effectiveness of systematic instruction on teaching multistep social-communication skills using an iPad((R)) loaded with Proloquo2Go. Three children between the ages of 7 and 10 years diagnosed with ASD and other developmental disabilities participated in the study. RESULTS: To varying degrees, the participants were successful in using the iPad((R)) to perform a multistep sequence in requesting, saying « thank you, » and answering personal questions. Procedural modifications were made during the intervention phase for two participants so that they were able to acquire social-communication skills using AAC. CONCLUSIONS: The findings indicate that systematic instruction is effective in developing advanced social-communication skills.
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3. Bicikova M, Macova L, Ostatnikova D, Hanzlikova L. {{Vitamin D in autistic children and healthy controls}}. {Physiol Res}. 2019; 68(2): 317-20.
Insufficient levels of vitamin D have been demonstrated by many authors as a risk factor for autistic patients, however, the causality has not been reliably elucidated. In the present study, levels of calcidiol were determined in group of autistic children and compared with age matched healthy children as controls. Suboptimal levels of calcidiol in more than 60 % of both autistic patients as well as of control group were found. No significant differences in vitamin D between autistic children and healthy controls were observed.
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4. Bradley EA, Ammash N, Martinez SC, Chin K, Hebson C, Singh HS, Aboulhosn J, Grewal J, Billadello J, Chakinala MM, Daniels CJ, Zaidi AN. {{« Treat-to-close »: Non-repairable ASD-PAH in the adult: Results from the North American ASD-PAH (NAAP) Multicenter Registry}}. {International journal of cardiology}. 2019.
BACKGROUND: Adults presenting with an unrepaired atrial septal defect and pulmonary arterial hypertension (ASD-PAH) are typically classified as « correctable » or « non-correctable ». The use of directed PAH medical therapy in non-correctable ASD-PAH leading to favorable closure candidacy, repair status and long-term follow-up is not well studied. We therefore sought to characterize response to PAH targeted therapy in ‘non-correctable’ ASD-PAH. METHODS AND RESULTS: Nine North American tertiary care centers submitted retrospective data from adults with unrepaired ASD-PAH that did not meet recommendations for repair at initial presentation (1996-2017). Sixty-nine patients (women 51(74%), 40+/-15years, mean pulmonary artery pressure (mPA) 51+/-13mmHg, pulmonary vascular resistance (PVR) 8.7+/-4.9 Wood units, Qp:Qs 1.6+/-0.4) were enrolled. All patients were prescribed PAH targeted therapy and late shunt repair occurred in 19(28%) (Women 15(29%) vs. Men 4(22%), p=0.6). At late follow-up (4.4+/-2.9years) 6-minute walk test distance (6MWTD) was significantly better in the group that underwent repair (486+/-89m vs. 375+/-139m, p<0.05). Transthoracic echo showed significant improvement in right ventricular (RV) function (severe dysfunction in repaired 8(40%) vs. unrepaired groups 35(69%), p<0.05). Divergent survival curves suggest that with larger studies and more follow-up, differences in survival between repaired and unrepaired groups may be important. (repaired: 17(94%) vs. unrepaired: 32(81%), p=0.18). CONCLUSIONS: This is the first and largest multicenter study evaluating the "treat-to-close" approach in non-correctable ASD-PAH. Our new data supports further study of this strategy in patients who have reversibility of PAH in response to targeted therapy. We demonstrate that in the carefully selected patient with non-correctable ASD-PAH, successful shunt repair is possible if post-therapy PVR is Lien vers le texte intégral (Open Access ou abonnement)
5. Callaghan DB, Rogic S, Tan PPC, Calli K, Qiao Y, Baldwin R, Jacobson M, Belmadani M, Holmes N, Yu C, Li Y, Li Y, Kurtzke FE, Kuzeljevic B, Yu A, Hudson M, McNaughton AJM, Xu Y, Dionne-Laporte A, Girard S, Liang P, Separovic ER, Liu X, Rouleau G, Pavlidis P, Lewis MES. {{Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort}}. {Clinical genetics}. 2019.
Autism Spectrum Disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD-association currently available only for a small number of genes. This makes it challenging to identify the underlying genetic cause in many cases of ASD, and there is a continuing need for further discovery efforts. We sequenced whole genomes of 119 deeply phenotyped ASD probands in order to identify likely pathogenic variants. We prioritised variants found in each subject by predicted damage, population frequency, literature evidence, and phenotype concordance. We used Sanger sequencing to determine the inheritance status of high-priority variants where possible. We report five novel de novo damaging variants as well as several likely damaging variants of unknown inheritance; these include two novel de novo variants in the well-established ASD gene SCN2A. The availability of rich phenotypic information and its concordance with the literature allowed us to increase our confidence in pathogenicity of discovered variants, especially in probands without parental DNA. For identified de novo variants, we were able to corroborate and extend the knowledge of associated phenotypes and their variability. Our results contribute to the documentation of potential pathogenic variants and their associated phenotypes in individuals with ASD. This article is protected by copyright. All rights reserved.
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6. Chamak B. {{Lobbying by association: The case of autism and the controversy over packing therapy in France}}. {Social science & medicine (1982)}. 2019; 230: 256-63.
The controversy over packing therapy used in psychiatry was studied here to illustrate how leading associations can influence public health policies. The main French associations of parents with autistic children succeeded in obtaining the prohibition of packing, announced by the French Secretary of State to the Ministry of Health in April 2016. Parents and professionals who had observed the positive effects of packing when nothing else worked for their part wondered what could be done for self-harming patients. The political authorities followed the opinion of the main associations of parents with autistic children at the expense of that of professionals. In this paper, the actions and discourse of the associations against packing are explored, as are the arguments of the psychiatrists who defend packing therapy. The different phases in the controversy from the first opposition in 2005 and the role of opinion leaders in associations are analyzed. The strategies to discredit psychiatry and to promote behavioral methods are also studied to understand the shift in the balance of power from professionals to association leaders. The mobilization of the associations prompted some psychiatrists to conduct evidence-based research and to formalize their practice. The controversy over packing, involving political decision-making processes, ethical issues and clinical questions, enables us to illustrate a case of lobbying by associations.
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7. Chen L, Abrams DA, Rosenberg-Lee M, Iuculano T, Wakeman HN, Prathap S, Chen T, Menon V. {{Quantitative analysis of heterogeneity in academic achievement of children with autism}}. {Clinical psychological science : a journal of the Association for Psychological Science}. 2019; 7(2): 362-80.
Autism spectrum disorders (ASD) represent a quintessential example of a clinical population with diverse symptom presentations and marked variation in cognitive abilities. However, the extent literature lacks rigorous quantitative procedures for characterizing heterogeneity of cognitive abilities in these individuals. Here we employ novel clustering and cross-validation procedures to investigate the stability of heterogeneous patterns of cognitive abilities in reading and math in a relatively large sample (N=114) of children with ASD and matched controls (N=96). Our analysis revealed a unique profile of heterogeneity in ASD, consisting of a low-achieving subgroup with poor math skills compared to reading, and a high-achieving subgroup who showed superior math skills compared to reading. Verbal and central executive working memory skills further differentiated these subgroups. Findings provide insights into distinct profiles of academic achievement in children with ASD, with implications for educational practice and intervention, and provide a novel framework for quantifying heterogeneity in the disorder.
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8. Habib A, Harris L, Pollick F, Melville C. {{A meta-analysis of working memory in individuals with autism spectrum disorders}}. {PLoS One}. 2019; 14(4): e0216198.
BACKGROUND: Autism spectrum disorders (ASD) are lifelong neurodevelopmental disorders. It is not clear whether working memory (WM) deficits are commonly experienced by individuals with ASD. AIM: To determine whether individuals with ASD experience significant impairments in WM and whether there are specific domains of working memory that are impaired. METHODS: We conducted a meta-analysis using four electronic databases EMBASE (OVID), MEDLINE (OVID), PsychINFO (EBSCOHOST), and Web of Science, to examine the literature to investigate whether people with ASD experience impairments related to WM. Meta-analyses were conducted separately for phonological and visuospatial domains of WM. Subgroup analyses investigated age and intelligence quotient as potential moderators. RESULTS: A total of 29 papers containing 34 studies measuring phonological and visuospatial domains of WM met the inclusion criteria. WM scores were significantly lower for individuals with ASD compared to typically developed (TD) controls, in both the visuospatial domain when investigating accuracy (d: -0.73, 95% CI -1.04 to -0.42, p < 0.05) and error rates (d: 0.56, 95% CI 0.25 to 0.88, p<0.05), and the phonological domain when investigating accuracy (d:-0.67, 95% CI -1.10 to -0.24, p>0.05) and error rate (d: 1.45, 95% CI -0.07 to 2.96, p = 0.06). Age and IQ did not explain the differences in WM in ASD. CONCLUSIONS: The findings of this meta-analysis indicate that across the lifespan, individuals with ASD demonstrate large impairments in WM across both phonological and visuospatial WM domains when compared to healthy individuals.
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9. Hefter D, Topor CE, Gass P, Hirjak D. {{Two Sides of the Same Coin: A Case Report of First-Episode Catatonic Syndrome in a High-Functioning Autism Patient}}. {Frontiers in psychiatry}. 2019; 10: 224.
Background: Catatonic phenomena such as stupor, mutism, stereotypy, echolalia, echopraxia, affective flattening, psychomotor deficits, and social withdrawal are characteristic symptoms of both schizophrenia and autism spectrum disorders (ASD), suggesting overlapping pathophysiological similarities such as altered glutamatergic and dopaminergic synaptic transmission and common genetic mutations. In daily clinical practice, ASD can be masked by manifest catatonic or psychotic symptoms and represent a diagnostic challenge, especially in patients with unknown or empty medical history. Unclear diagnosis is one of the main factors for delayed treatment. However, we are still missing diagnostic recommendations when dealing with ASD patients suffering from catatonic syndrome. Case presentation: A 31-year-old male patient without history of psychiatric disease presented with a severe catatonic syndrome and was admitted to our closed psychiatric ward. After the treatment with high-dose lorazepam and intramuscular olanzapine, catatonic symptoms largely remitted, but autistic traits persisted. Following a detailed anamnesis and a thorough neuropsychological testing, we diagnosed the patient with high-functioning autism and catatonic schizophrenia. The patient was discharged in a remitted state with long-acting injectable olanzapine. Conclusion: This case represents an example of diagnostic and therapeutic challenges of catatonic schizophrenia in high-functioning autism due to clinical and neurobiological overlaps of these conditions. We discuss clinical features together with pathophysiological concepts of both conditions. Furthermore, we tackle social and legal hurdles in Germany that naturally arise in these patients. Finally, we present diagnostic « red flags » that can be used to rationally select and conduct current recommended diagnostic assessments if there is a suspicion of ASD in patients with catatonic syndrome in order to provide them with the most appropriate treatment.
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10. Ismail S, Senna AA, Behiry EG, Ashaat EA, Zaki MS, Ashaat NA, Salah DM. {{Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children}}. {Am J Med Genet B Neuropsychiatr Genet}. 2019.
BACKGROUND: Autism spectrum disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate-methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylene tetrahydrofolate reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR gene C677T variant accounted as a risk factor of autism. OBJECTIVE: The present study aimed to investigate the association of MTHFR gene rs1801133(C677T) variant among Egyptian autistic children. METHODS: The study included 78 autistic children, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR genetic variant, rs1801133(C677T) was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods followed by direct sequencing technique. RESULTS: MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children. Also, we had a higher distribution of combined CT + TT genotypes among autistic patients with consanguinity and family history of psychological disease. In Gastrointestinal tract (GIT) and sleep disorders showed a higher distribution of hetero CT genotype as well as combined CT + TT genotypes. CONCLUSION: This study demonstrated a role of MTHFR gene (C667T) variant with the increased risk for ASD.
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11. Kabiyea F, Manor-Binyamini I. {{The relationship between stress and stigma, somatization and parental self-efficacy among fathers of adolescents with developmental disabilities in the Bedouin community in Israel}}. {Res Dev Disabil}. 2019; 90: 31-40.
BACKGROUND: Although children across the world experience Developmental Disabilities, most research on DD has been conducted using Western cultural perspectives and has primarily focused on mothers, leaving significant gaps in the literature. This study intends to fill some of these gaps by exploring and gaining an understanding of the experiences of fathers raising children with DD. Thus, the aim of this study was: to examine whether stigma, somatization, and parental self-efficacy were associated with stress among Bedouin fathers of adolescents with DD. Besides, the relationship between somatization and stress was examined in this study, as it is mediated by the sense of stigma, as well as the intensity of the mediation of the knowledge of shame, between paternal self-efficacy and stress. METHODOLOGY: Notably, ninety Bedouin fathers of adolescents with DD completed five questionnaires. These questionnaires included demographic, stigma, parental self-efficacy, and stress and somatization questionnaires. RESULTS: Significantly, the study findings indicate significant negative relationships between general stress and parental self-efficacy, parental and economic stress and parental self-efficacy, and sense of stigma and parental self-efficacy. Also, the findings indicate significant positive relationships between stigma and anxiety, fear and somatization, and stigma and somatization. CONCLUSIONS: Arguably, concerning the findings of the study, intervention programs that are culturally tailored and that concern cognitive-behavioral foundations are recommended to help fathers cope with their sense of stigma. Further, the intervention programs help to deal with stress and somatization and to increase their understanding of parental self-efficacy in raising their child. Therefore, these cultural intervention programs should take into account the individual and his extended family, and place of the family in his life, considering the cultural values and the honor of the family. Further, the programs should take into account the centrality of religion and an awareness of the impact of the social hierarchy and the status of the fathers in the community and on the child with disabilities. In essence, these areas are focal points of power that can assist in providing solutions for the intervention program. Also, it is essential to refer to the living and economic conditions of this community.
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12. Kumazaki H, Muramatsu T, Yoshikawa Y, Matsumoto Y, Ishiguro H, Mimura M, Kikuchi M. {{Role-Play-Based Guidance for Job Interviews Using an Android Robot for Individuals With Autism Spectrum Disorders}}. {Frontiers in psychiatry}. 2019; 10: 239.
Interventions for job interviews targeting the impaired theory of mind observed in individuals with autism spectrum disorders (ASD) are limited. We developed a role-play-based guidance system for job interviews using an android robot resembling a real person. Individuals with ASD worked in pairs and played dual roles in mock job interviews. Specifically, one participant acted as the interviewee, while the other participant operated the android robot and acted as the interviewer. Eight individuals with high-functioning ASD participated in this study. After the training sessions, participants learned to understand the point of view of the interviewer, which may contribute to increased recognition of the importance of gestures and the motivation to learn how to behave in a job interview. In addition, participants reported improved self-confidence. These results provide preliminary support for the efficacy of playing dual roles using android robots.
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13. Larcombe TJ, Joosten AV, Cordier R, Vaz S. {{Preparing Children with Autism for Transition to Mainstream School and Perspectives on Supporting Positive School Experiences}}. {J Autism Dev Disord}. 2019.
School readiness is important to a positive start and success in school but children with Autism Spectrum Disorder (ASD) are at risk of not being school-ready. This study aimed to explore parent and therapist perspectives on school readiness skills of children with ASD and factors impacting on a positive mainstream school experience. A mixed methods design was used. Key findings were that school readiness depends on child and school factors, with social skills the most important child factor. The child’s experience was largely reliant on teacher and education assistant attitudes and highlighted a need for further training and support. This study identified areas of focus for early intervention as well as school-aged intervention and the need for collaborative practice.
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14. Laxman DJ, Taylor JL, DaWalt LS, Greenberg JS, Mailick MR. {{Loss in Services Precedes High School Exit for Teens with Autism Spectrum Disorder: A Longitudinal Study}}. {Autism Res}. 2019.
The present longitudinal study investigated changes in service receipt and unmet service needs spanning 14 years before and after high school exit in a large community-based sample of individuals with autism spectrum disorder (ASD) (n = 204), of whom 59% had co-occurring intellectual disability (ID). Using multilevel models, potential discontinuity of service patterns at the point of high school exit was examined, as well as the rate of change in services received and needed during the high school years and into the post-high school period. Differences between those with and without ID were probed. Study findings indicated that overall, sample members experienced a reduction in receipt of services during high school, particularly for those without co-occurring ID. After high school exit, sample members experienced a decline in services received; for those without ID, there was a continuous rate of loss of services after leaving high school but for those with ID, there was a sharp decline in services received. Unmet service needs increased right after high school exit for both those with and without ID. These patterns reflect loss of entitlement for services that accompanies high school exit, and the limited availability of adult services for individuals with ASD. This study documented not only the post-high school service cliff that has been the subject of much concern, but also that the loss of services begins long before high school exit and that subgroups of the population with ASD are particularly vulnerable. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this research, we studied changes in the number of services received before and after high school exit in a large sample of individuals with autism spectrum disorder (ASD). With each passing year during high school, individuals with ASD received fewer services. At the time of high school exit, there was a sharp drop in the number of services received, particularly for those with co-occurring intellectual disability. This study found not only that there is a post-high school service cliff, but also that the loss of services begins long before high school exit.
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15. Luo Y, Zhou B, Liu F, Ai R, Wen M, Tong X. {{[Enhanced autophagy activates p38/MEF2C pathway to regulate the expression of synapse-associated proteins and improve the symptoms of autistic rats]}}. {Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology}. 2019; 35(3): 236-42.
Objective To study the mechanism of p38/myocyte enhancer factor 2C (p38/MEF2C) pathway regulating synapse before and after autophagy intervention in the prefrontal cortex of autistic rats. Methods An animal model of autism was induced by intraperitoneal injection of valproic acid (VPA) at 12.5 days of gestation in Wistar rats. They were treated with normal saline or VPA. The offspring of the saline treatment group served as a control group. The offspring of the VPA treatment group were randomly divided into the model group, 5 mg/kg 3-methyladenine (3-MA) group, and 5 mg/kg rapamycin (Rap) autophagy enhanced group, and the treatment time of each group was from the 35th day of birth to the 42nd day of birth. Western blot analysis was used to detect the protein levels of p38, phosphorylated p38 (p-p38), MEF2C, synaptic vesicle protein (SYN), postsynaptic density 95 (PSD-95), and gephyrin protein in the prefrontal cortex of rats; immunohistochemical staining was used to detect the expression and distribution of SYN, PSD-95 and gephyrin in the prefrontal cortex, and semi-quantitative analysis was performed then. Results Compared with the control group, the developmental and behavioral test showed that the model group had developmental lag and social disorder. Compared with the model group, the Rap group shoed improved social disorder, and the 3-MA group could aggravate social disorder. Compared with the control group, the expression of p38, p-p38, MEF2C was down-regulated, the expression of SYN and PSD-95 protein was up-regulated, and the expression of gephyrin was down-regulated. Compared with the model group, the expression of p38, p-p38, MEF2C in the Rap group was up-regulated, the levels of SYN and PSD-95 protein were down-regulated, and the level of gephyrin protein was up-regulated, while that in 3-MA group was opposite. Compared with the control group, the number of SYN and PSD-95 positive cells in the model group increased, and the number of gephyrin positive cells decreased. Compared with the model group, the number of SYN and PSD-95 positive cells in the Rap group decreased, and the number of gephyrin-positive cells increased, and the 3-MA group was opposite. Conclusion The p38/MEF2C signaling pathway is inhibited in the prefrontal cortex of rats with autism, which can regulate the expression of synaptic related proteins and improve autistic behavior by enhancing autophagy to activate the p38/MEF2C signaling pathway.
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16. Maskey M, Rodgers J, Ingham B, Freeston M, Evans G, Labus M, Parr JR. {{Using Virtual Reality Environments to Augment Cognitive Behavioral Therapy for Fears and Phobias in Autistic Adults}}. {Autism in adulthood : challenges and management}. 2019; 1(2): 134-45.
Fears and phobias are common in people on the autism spectrum and can impact on their ability to undertake usual daily activities. Graded exposure to the anxiety-provoking stimulus is a recognized method of treatment for fears/phobias in the nonautistic population but may pose specific difficulties for autistic people. For example, real-life exposure can be too anxiety-provoking to allow treatment to take place, and imaginal exposure can be problematic. To address this, we developed an intervention that combines cognitive behavioral therapy (CBT) with immersive virtual reality (VR) exposure to reduce anxiety. Following successful trials of this intervention with young people on the autism spectrum, we report a pilot study using the same intervention with autistic adults. Eight adults (aged 18-57 years) received one psychoeducation session and then four 20-minute sessions of graded exposure with a therapist in an immersive VR room (known as the Blue Room). Each participant completed all sessions showing that the intervention is feasible and acceptable. Outcomes were monitored at 6 weeks and 6 months postintervention. Five of the eight participants were classified as intervention responders and at 6 months after the end of intervention were experiencing real-life functional improvements. These preliminary findings show that VR-graded exposure alongside CBT may be an effective treatment for autistic people with phobias. Lay Summary: Why was this study done?Anxiety is common in autistic adults. For some people, fears and phobias regarding everyday objects and situations occur frequently affecting everyday life. The main method to treat fears and phobias for people without autism is gradual exposure to the situation that causes anxiety. However, this method may be challenging for people on the autism spectrum. We wanted to test a new method of treatment that uses cognitive behavioral therapy (CBT) delivered with gradual exposure in a fully immersive virtual reality (VR) environment.What was the purpose of this study?We have already delivered this treatment successfully with autistic children. We wanted to test if this treatment would work for autistic adults. Changing traditional psychological treatments, such as CBT, to make it more suitable for autistic people is recommended by the National Institute for Health and Care Excellence.What did the researchers do?We recruited eight autistic adults (aged 18-57 years) with a fear/phobia and their supporter (parent/friend/support worker). Each adult had one session with a therapist to learn anxiety management techniques. They then had four 20-minute sessions of graded exposure with a therapist in an immersive VR room (known as the Blue Room). Each participant had a computer-generated scene designed for their specific anxiety-provoking situation. After four sessions, the participant tried real-life exposure with their supporter. We measured progress at 6 weeks and 6 months after the last VR session.What were the results of this study?Each participant completed all four sessions. This shows that the intervention was possible to deliver and acceptable to autistic people and therapists. Participants completed assessments at 6 weeks and 6 months after the VR sessions. Five of the eight participants were « responders » to the intervention. This means that 6 months after the last VR session, they still had real-life day-to-day improvements in relation to their phobia.What do these findings add to what was already known?We had not delivered this intervention to autistic adults previously. The findings show that this VR intervention has the potential to be an effective treatment for anxiety in autistic adults.What are the potential weaknesses in the study?This is a small study and future work will be a larger trial of this treatment-comparing results from people who get the intervention with people who do not. We would also want to have an outcome assessor who did not know whether people had received the intervention or not.How will these findings help autistic adults now or in the future?This new intervention has the potential to help autistic adults manage their anxiety in stressful situations and therefore may improve their quality of life.
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17. Micheletti M, McCracken C, Constantino JN, Mandell D, Jones W, Klin A. {{Research Review: Outcomes of 24- to 36-month-old children with autism spectrum disorder vary by ascertainment strategy: a systematic review and meta-analysis}}. {J Child Psychol Psychiatry}. 2019.
BACKGROUND: Despite widespread recommendations for early surveillance of risk for autism spectrum disorder (ASD), no research to date has shown that early surveillance leads to better clinical outcomes. Preliminary research has suggested that children with ASD ascertained via prospective follow-up have better outcomes than those ascertained via community referral. Because prospective studies include early surveillance, by comparing outcomes of children with ASD across ascertainment strategies, we may gain insight into the effects of early surveillance relative to its absence. METHODS: A systematic review was conducted to identify studies reporting outcomes of 24- to 36-month-olds with ASD ascertained via prospective follow-up, community referral, or universal screening. A meta-analysis using a random effects model was used to calculate overall effect size estimates for developmental level and symptom severity across ascertainment cohorts. RESULTS: Eleven prospective, ten community referral, and eight universal screening studies were identified, reporting on 1,658 toddlers with ASD. We found no differences in outcomes between community referral and universal screening studies. Relative to both, prospective studies reported significantly higher developmental levels and lower symptom severities. CONCLUSIONS: Outcomes of young children with ASD ascertained via prospective follow-up are better than those of children with ASD recruited via community referral or universal screening. Although we discuss why sampling bias is not likely the driving force behind these findings, we cannot rule out the possibility that sampling bias contributes to the observed differences; future studies should probe the effects of sociodemographic variables on clinical outcomes as a function of ascertainment strategy. This limitation notwithstanding, our results raise the possibility that prospective follow-up may confer a ‘surveillance effect’ that contributes to improved developmental and diagnostic outcomes in children with ASD. Future research should test this hypothesis and determine the specific mechanism by which surveillance may improve outcomes.
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18. Montes R, Mollinedo P, Perales S, Gonzalez-Lamuno D, Ramos-Mejia V, Fernandez-Luna JL, Real PJ. {{GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation}}. {Stem cell research}. 2019; 37: 101446.
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuclear cells were reprogrammed using a non-transmissible form of Sendai viruses expressing the four Yamanaka factors (Oct3/4, SOX2, KLF4 and c-MYC). Characterization of GENYOi004-A included mutation analysis of ADNP by allele-specific PCR, genetic identity by Short Tandem Repeats polymorphism profiling, alkaline phosphatase enzymatic activity, expression of pluripotency-associated factors and pluripotency studies in vivo. GENYOi004-A will be useful to evaluate ADNP syndrome alterations at early developmental stages.
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19. Park SH, Demetriou EA, Pepper KL, Song YJC, Thomas EE, Hickie IB, Glozier N, Guastella AJ. {{Validation of the 36-item and 12-item self-report World Health Organization Disability Assessment Schedule II (WHODAS-II) in individuals with autism spectrum disorder}}. {Autism Res}. 2019.
The World Health Organization Disability Assessment Schedule II (WHODAS-II) is one of the most widely used generic assessments for measuring disability levels in both clinical and nonclinical populations, with sound psychometrics that is also aligned with the International Classification of Functioning framework. However, its psychometric properties have not been explored extensively in individuals with autism spectrum disorder (ASD). This study examined the psychometric properties of the 36-item and 12-item Self-Report WHODAS-II from 109 individuals diagnosed with ASD and without intellectual disability (IQ >/= 70). Participants were consecutively recruited from the Brain and Mind Centre in New South Wales, Australia. The WHODAS-II showed adequate internal consistency for all domain scores (alpha = 0.78-0.97 for 36-item) and for the summary scale (alpha = 0.95 for 36-item; 0.86 for 12-item). All items also exhibited satisfactory correlations with their respective domain (r = 0.39-0.94 for 36-item) and summary scores (r = 0.42-0.71 for 36-item; 0.42-0.67 for 12-item), except item 4.5 « sexual activity » from the 36-item WHODAS-II (r = 0.19). Concurrent validity was shown by moderate correlations between similar constructs across the WHODAS-II and the World Health Organization Quality of Life BREF (Ps < 0.05). The second-order 7-factor model showed the best fit for the 36-item WHODAS-II, while the second-order 6-factor model demonstrated an acceptable fit for the 12-item WHODAS-II. The model fit could be improved with some modifications. The Schmid-Leiman transformation further confirmed the appropriateness of the second-order factor structure. Overall, the results indicated that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals without ID. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The majority of autistic people have a disability with a profound or severe limitation in their core activities. However, there is currently limited research identifying reliable and valid self-report measures for disability in the autistic population. This study examined the psychometric properties of the World Health Organization Disability Assessment Schedule II (WHODAS-II) from 109 autistic individuals without intellectual disability. Our results suggest that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals. Lien vers le texte intégral (Open Access ou abonnement)
20. Pereira-Smith S, Boan A, Carpenter LA, Macias M, LaRosa A. {{Preventing elopement in children with autism spectrum disorder}}. {Autism Res}. 2019.
Reports of missing children with autism spectrum disorder (ASD) are common in the media, and elopement can lead to dire consequences. This study quantified the use of preventive measures that target elopement, plus identified child/family characteristics associated with elopement and the use of preventive measures. This cross-sectional study included 394 caregivers of children ages 2-17 years with ASD followed in an academic medical center’s Developmental-Behavioral Pediatrics clinic. Details about elopement, preventive measure use, and sociodemographic characteristics were assessed via an investigator-designed, parent advocate-approved questionnaire, while pertinent clinical factors were extracted from patients’ electronic health records. Two hundred and sixty-seven caregivers (68%) reported elopement by their child. Elopement risk was not associated with sociodemographic characteristics, nor with any specific comorbidity or neurobehavioral medication. Children with limited communication skills were more likely to have a history of elopement (OR 2.24, 95% CI 1.30-3.84; P = 0.004). The most common preventive measure used was lock(s) at top of doors (51%), while less than a quarter of families were using handicap permits, signs/visual markers, or tracking devices. Implementation of certain modifications was statistically associated with socioeconomic status and comorbidities of interest. In addition to supporting previous literature about the increased elopement risk in children with limited communication skills, this study is the first to reveal that caregiver use of numerous preventive measures varies widely. The associations noted with use of specific preventive measures can help guide recommendations for this dangerous comorbid symptom, and provide information needed for future studies to assess the efficacy of various preventive measures. Autism Res 2019, 00: 1-17. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Elopement, defined as leaving an area without permission and placing oneself in a potentially dangerous situation, is a behavior exhibited by many children with autism. There is little information about the use of various modifications that target elopement in the pediatric population. This study identifies child/family characteristics that were related to elopement and the use of modifications, and stresses the importance of counseling families of children with autism about elopement.
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21. Pierce K, Gazestani VH, Bacon E, Barnes CC, Cha D, Nalabolu S, Lopez L, Moore A, Pence-Stophaeros S, Courchesne E. {{Evaluation of the Diagnostic Stability of the Early Autism Spectrum Disorder Phenotype in the General Population Starting at 12 Months}}. {JAMA Pediatr}. 2019.
Importance: Universal early screening for autism spectrum disorder (ASD) in primary care is becoming increasingly common and is believed to be a pivotal step toward early treatment. However, the diagnostic stability of ASD in large cohorts from the general population, particularly in those younger than 18 months, is unknown. Changes in the phenotypic expression of ASD across early development compared with toddlers with other delays are also unknown. Objectives: To examine the diagnostic stability of ASD in a large cohort of toddlers starting at 12 months of age and to compare this stability with that of toddlers with other disorders, such as developmental delay. Design, Setting, and Participants: In this prospective cohort study performed from January 1, 2006, to December 31, 2018, a total of 2241 toddlers were referred from the general population through a universal screening program in primary care or community referral. Eligible toddlers received their first diagnostic evaluation between 12 and 36 months of age and had at least 1 subsequent evaluation. Exposures: Diagnosis was denoted after each evaluation visit as ASD, ASD features, language delay, developmental delay, other developmental issue, typical sibling of an ASD proband, or typical development. Main Outcomes and Measures: Diagnostic stability coefficients were calculated within 2-month age bands, and logistic regression models were used to explore the associations of sex, age, diagnosis at first visit, and interval between first and last diagnosis with stability. Toddlers with a non-ASD diagnosis at their first visit diagnosed with ASD at their last were designated as having late-identified ASD. Results: Among the 1269 toddlers included in the study (918 [72.3%] male; median age at first evaluation, 17.6 months [interquartile range, 14.0-24.4 months]; median age at final evaluation, 36.2 months [interquartile range, 33.4-40.9 months]), the overall diagnostic stability for ASD was 0.84 (95% CI, 0.80-0.87), which was higher than any other diagnostic group. Only 7 toddlers (1.8%) initially considered to have ASD transitioned into a final diagnosis of typical development. Diagnostic stability of ASD within the youngest age band (12-13 months) was lowest at 0.50 (95% CI, 0.32-0.69) but increased to 0.79 by 14 months and 0.83 by 16 months (age bands of 12 vs 14 and 16 years; odds ratio, 4.25; 95% CI, 1.59-11.74). A total of 105 toddlers (23.8%) were not designated as having ASD at their first visit but were identified at a later visit. Conclusions and Relevance: The findings suggest that an ASD diagnosis becomes stable starting at 14 months of age and overall is more stable than other diagnostic categories, including language or developmental delay. After a toddler is identified as having ASD, there may be a low chance that he or she will test within typical levels at 3 years of age. This finding opens the opportunity to test the impact of very early-age treatment of ASD.
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22. Ramseur K, 2nd, de Vries PJ, Guler J, Shabalala N, Seris N, Franz L. {{Caregiver descriptions of joint activity routines with young children with autism spectrum disorder in South Africa}}. {Pediatric medicine (Hong Kong, China)}. 2019; 2.
Background: Coaching caregivers to deliver Naturalistic Developmental Behavioral Intervention (NDBI) strategies to their young child with autism spectrum disorder (ASD) could help address the provider capacity barrier in sub-Saharan Africa. However, the behavioral and developmental research that underpins NDBIs is overwhelmingly drawn from high resource settings. Therefore, our understanding of joint activity routines, including play and family routines in which NDBI strategies are embedded, may have limited applicability in low resource, culturally diverse environments. Important questions remain on how to adapt NDBIs to be relevant in the family lives in these settings. This study aimed to elicit descriptions of joint activity routines from caregivers of young children with ASD in South Africa, to understand whether an NDBI-informed caregiver coaching could ‘fit’ within the multicultural, multilingual South African context. Methods: Four focus groups were conducted with 22 caregivers of young children with ASD who were recruited from the Western Cape Education Department autism waiting list. Data were analyzed through directed content analysis, which uses inductive methods to determine salient themes and subthemes. The predetermined initial coding classifications were based on joint activity routine categories of object-based play, sensory social routines, and family routines. Results: Participants’ descriptions of caregiver-child interactions aligned with a-priori joint activity routine categories. During object-based play, caregivers engaged in turn-taking, taught developmental skills (for example cognitive, language, and fine motor skills), and participated in child-directed activities. During sensory social routines, caregivers described active, physical play, awareness of child affect, increased child expressive language, and willingness to engage with different play partners. During family routines, caregivers detailed child participation in mealtime and bath time. Conclusions: These data suggest that South African caregivers of young children with ASD use joint activity routines to engage their children and teach them new skills, thus suggesting a degree of ‘fit’ between South African caregiver-child interactions and an NDBI-informed caregiver coaching approach. However, more information on family routines and which caregiver interacts with the young child with ASD during these routines would help tailor these interventions for low-resource African settings.
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23. Simpson K, Adams D, Bruck S, Keen D. {{Investigating the participation of children on the autism spectrum across home, school and community: A longitudinal study}}. {Child Care Health Dev}. 2019.
BACKGROUND: The World Health Organisation recognises that meaningful participation in one’s community empowers individuals. Children and adolescents on the autism spectrum consistently report lower participation than their typical peers in activities and this appears to continue into adulthood. The aim of this study was to investigate the participation of children on the autism spectrum over a 3-year period across home, school, and community. METHOD: Caregivers of 84 participants aged 9 – 10 years at Year 1 completed the Participation and Environment Measure for Children and Youth (PEM-CY) at three annual data collection points. The PEM-CY is a 25-question measure of the child’s level of involvement in home, school, and community activities. Distribution frequencies were calculated for each time point. RESULTS: Although participation in the majority of items across home, school and community remained stable, the longitudinal data suggests that children change the types of socialising activities across time. Over the 3 years there was a decline in physical activity (both organised and unstructured) and in participation in school activities. CONCLUSION: This decline in participation as children move into adolescence is concerning. Further, reduced participation at this phase of development may potentially limit future participation opportunities throughout adolescence and into adulthood. Further exploration of the participation trajectories of children on the autism spectrum is needed.
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24. Stahmer AC, Suhrheinrich J, Roesch S, Zeedyk SM, Wang T, Chan N, Lee HS. {{Examining relationships between child skills and potential key components of an evidence-based practice in ASD}}. {Res Dev Disabil}. 2019.
BACKGROUND: Research in autism spectrum disorders (ASD) has identified a need to understand key components of complex evidence-based practices (EBP). One approach involves examining the relationship between component use and child behavior. AIMS: This study provides initial evidence for identifying key components in a specific EBP, Pivotal Response Training (PRT). We examined which components were related to child response and evaluated relationships between provider characteristics, child characteristics and component intensity. METHODS: Trained coders reviewed archival videos (n = 278) for PRT fidelity and child behavior. We completed multi-level regression and latent profile analysis to examine relationships between intensity of individual or combinations of PRT components and child behavior, and moderators of component use. RESULTS: Analyses indicated differential relationships between specific components and child behaviors which may support methods of altering intensity of components to individualize intervention. Profile analysis suggested relatively intensive use of most PRT components, especially antecedent strategies, may maximize child responsivity. Providers with postgraduate education trended toward higher intensity component use. Child characteristics did not moderate use. IMPLICATIONS: Careful examination of key components of ASD interventions may helps clarify the mechanisms of action. Recommendations specific to PRT implementation and use of the methodology for other interventions are discussed.
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25. Xiong J, Chen S, Pang N, Deng X, Yang L, He F, Wu L, Chen C, Yin F, Peng J. {{Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes}}. {Front Neurosci}. 2019; 13: 349.
Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex. So far, studies have identified more than 1000 ASD risk genes. Most of them were also reported to relate with other neurological diseases, and only several of them have been confirmed as pathogenic genes for autism. Little is known about the roles of these risk genes in neurological diseases with ASD. In the present study, we recruited a cohort of 158 neurological disorder probands with 163 variants of 48 ASD risk genes. Of these, 50 individuals (31.6%) were diagnosed with ASD. In the ASD patient subset, we identified several rarely reported candidate genes including DOLK, USH2A, and HUWE1. In a comparison of patients with neurological disorders with and without ASD, we found that ID/GDD was frequently comorbid with ASD whereas epilepsy was more common in the non-ASD group. Statistical analyses of all possible risk factors implicated that variants in synaptic genes, especially non-voltage-gated ion channel genes and in transcriptional and chromosome genes were related to ASD, but none of the investigated environmental factors was. Our results are useful for the future diagnosis and prognosis of patients with neurological disorders and emphasize the utility of genetic screening.
