1. Berry-Kravis EM, Lindemann L, Jonch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. {{Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome}}. {Nat Rev Drug Discov};2017 (Dec 8)
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal gene, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches. These robust preclinical findings have led to the implementation of the most comprehensive drug development programme undertaken thus far for a genetically defined neurodevelopmental disorder, including phase IIb trials of metabotropic glutamate receptor 5 (mGluR5) antagonists and a phase III trial of a GABAB receptor agonist. However, none of the trials has been able to unambiguously demonstrate efficacy, and they have also highlighted the extent of the knowledge gaps in drug development for FXS and other neurodevelopmental disorders. In this Review, we examine potential issues in the previous studies and future directions for preclinical and clinical trials. FXS is at the forefront of efforts to develop drugs for neurodevelopmental disorders, and lessons learned in the process will also be important for such disorders.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bjornsdotter M, Davidovic M, Karjalainen L, Starck G, Olausson H, Wentz E. {{Grey matter correlates of autistic traits in women with anorexia nervosa}}. {J Psychiatry Neurosci};2017 (Dec 7);43(1):1-8.
Background: Patients with anorexia nervosa exhibit higher levels of behaviours typically associated with autism-spectrum disorder (ASD), but the neural basis is unclear. We sought to determine whether elevated autistic traits in women with anorexia nervosa may be reflected in cortical morphology. Methods: We used voxel-based morphometry (VBM) to examine regional grey matter volumes in high-resolution MRI structural brain scans in women with anorexia nervosa and matched healthy controls. The Autism-spectrum Quotient (AQ) scale was used to assess autistic traits. Results: Women with anorexia nervosa (n = 25) had higher AQ scores and lower bilateral superior temporal sulcus (STS) grey matter volumes than the control group (n = 25). The AQ scores correlated negatively with average left STS grey matter volume in women with anorexia nervosa. Limitations: We did not control for cognitive ability and examined only women with ongoing anorexia nervosa. Conclusion: Elevated autistic traits in women with anorexia nervosa are associated with morphometric alterations of brain areas linked to social cognition. This finding provides neurobiological support for the behavioural link between anorexia nervosa and ASD and emphasizes the importance of recognizing autistic traits in preventing and treating -anorexia nervosa.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bobylova MY, Ivanova IV, Nekrasova IV, Pylaeva OA, Mukhin KY, Kholin AA, Iljina ES, Kulikov AV, Iljina ES, Nesterovsky YE. {{[The course and development of epilepsy in patients with typical variant of Rett syndrome and mutations]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2017;117(9. Vyp. 2):80-87.
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (capital EM, Cyrilliccapital IE, Cyrilliccapital ES, Cyrilliccapital ER, Cyrillic2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54.5%). Mean age at onset of epileptic seizures was 3 years 9 month. The following types of seizures were described: generalized, myoclonic, myotonic, tonic, versive, focal motor, atypical absences. Status epilepticus developed in one patient. Generalized seizures were identified in 56.25%, focal seizures in 43.75%. EEG changes were found in 9 patients (81.8%): slowing of the activity, episodes of periodic regional slowing, regional epileptiform activity and diffuse epileptiform activity, benign focal epileptiform discharges (BFED) of childhood, multiregional epileptiform activity. Five patients were treated with antiepileptic drugs. All of them had improved during treatment: a reduction of frequency of seizures was up to 50% in 4 cases (80%). One patient with resistant epilepsy was treated with the combination of drugs (levetiracetam, topiramate, zonisamide, benzodiazepine) that led to stopping of seizures during night sleep and decrease in the frequency of daytime seizures by 50%. Further research of epilepsy and efficacy of antiepileptic drugs in Rett syndrome is required.
Lien vers le texte intégral (Open Access ou abonnement)
4. Chang JM, Zeng H, Han R, Chang YM, Shah R, Salafia CM, Newschaffer C, Miller RK, Katzman P, Moye J, Fallin M, Walker CK, Croen L. {{Autism risk classification using placental chorionic surface vascular network features}}. {BMC Med Inform Decis Mak};2017 (Dec 6);17(1):162.
BACKGROUND: Autism Spectrum Disorder (ASD) is one of the fastest-growing developmental disorders in the United States. It was hypothesized that variations in the placental chorionic surface vascular network (PCSVN) structure may reflect both the overall effects of genetic and environmentally regulated variations in branching morphogenesis within the conceptus and the fetus’ vital organs. This paper provides sound evidences to support the study of ASD risks with PCSVN through a combination of feature-selection and classification algorithms. METHODS: Twenty eight arterial and 8 shape-based PCSVN attributes from a high-risk ASD cohort of 89 placentas and a population-based cohort of 201 placentas were examined for ranked relevance using a modified version of the random forest algorithm, called the Boruta method. Principal component analysis (PCA) was applied to isolate principal effects of arterial growth on the fetal surface of the placenta. Linear discriminant analysis (LDA) with a 10-fold cross validation was performed to establish error statistics. RESULTS: The Boruta method selected 15 arterial attributes as relevant, implying the difference in high and low ASD risk can be explained by the arterial features alone. The five principal features obtained through PCA, which accounted for about 88% of the data variability, indicated that PCSVNs associated with placentas of high-risk ASD pregnancies generally had fewer branch points, thicker and less tortuous arteries, better extension to the surface boundary, and smaller branch angles than their population-based counterparts. CONCLUSION: We developed a set of methods to explain major PCSVN differences between placentas associated with high risk ASD pregnancies and those selected from the general population. The research paradigm presented can be generalized to study connections between PCSVN features and other maternal and fetal outcomes such as gestational diabetes and hypertension.
Lien vers le texte intégral (Open Access ou abonnement)
5. Chukoskie L, Westerfield M, Townsend J. {{A novel approach to training attention and gaze in ASD: A feasibility and efficacy pilot study}}. {Dev Neurobiol};2017 (Dec 8)
In addition to the social, communicative and behavioral symptoms that define the disorder, individuals with ASD have difficulty re-orienting attention quickly and accurately. Similarly, fast re-orienting saccadic eye movements are also inaccurate and more variable in both endpoint and timing. Atypical gaze and attention are among the earliest symptoms observed in ASD. Disruption of these foundation skills critically affects the development of higher level cognitive and social behavior. We propose that interventions aimed at these early deficits that support social and cognitive skills will be broadly effective. We conducted a pilot clinical trial designed to demonstrate the feasibility and preliminary efficacy of using gaze-contingent video games for low-cost in-home training of attention and eye movement. Eight adolescents with ASD participated in an 8-week training, with pre-, mid- and post-testing of eye movement and attention control. Six of the eight adolescents completed the 8 weeks of training and all six showed improvement in attention (orienting, disengagement) and eye movement control or both. All game systems remained intact for the duration of training and all participants could use the system independently. We delivered a robust, low-cost, gaze-contingent game system for home use that, in our pilot training sample, improved the attention orienting and eye movement performance of adolescent participants in 8 weeks of training. We are currently conducting a clinical trial to replicate these results and to examine what, if any, aspects of training transfer to more real-world tasks. (c) 2017 Wiley Periodicals, Inc. Develop Neurobiol, 2017.
Lien vers le texte intégral (Open Access ou abonnement)
6. Cole EJ, Slocombe KE, Barraclough NE. {{Abilities to Explicitly and Implicitly Infer Intentions from Actions in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Dec 6)
Previous research suggests that Autism Spectrum Disorder (ASD) might be associated with impairments on implicit but not explicit mentalizing tasks. However, such comparisons are made difficult by the heterogeneity of stimuli and the techniques used to measure mentalizing capabilities. We tested the abilities of 34 individuals (17 with ASD) to derive intentions from others’ actions during both explicit and implicit tasks and tracked their eye-movements. Adults with ASD displayed explicit but not implicit mentalizing deficits. Adults with ASD displayed typical fixation patterns during both implicit and explicit tasks. These results illustrate an explicit mentalizing deficit in adults with ASD, which cannot be attributed to differences in fixation patterns.
Lien vers le texte intégral (Open Access ou abonnement)
7. de Moraes IAP, Massetti T, Crocetta TB, da Silva TD, de Menezes LDC, Monteiro CBM, Magalhaes FH. {{Motor learning characterization in people with autism spectrum disorder: A systematic review}}. {Dement Neuropsychol};2017 (Jul-Sep);11(3):276-286.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder primarily characterized by deficits in social interaction, communication and implicit skill learning. OBJECTIVE: To analyse the results of research on « motor learning » and the means used for measuring « autistic disorder ». METHODS: A systematic literature search was done using Medline/PubMed, Web of Science, BVS (virtual health library), and PsycINFO. We included articles that contained the keywords « autism » and « motor learning ». The variables considered were the methodological aspects; results presented, and the methodological quality of the studies. RESULTS: A total of 42 studies were identified; 33 articles were excluded because they did not meet the inclusion criteria. Data were extracted from nine eligible studies and summarized. CONCLUSION: We concluded that although individuals with ASD showed performance difficulties in different memory and motor learning tasks, acquisition of skills still takes place in this population; however, this skill acquisition is related to heterogeneous events, occurring without the awareness of the individual.
Lien vers le texte intégral (Open Access ou abonnement)
8. Edgerton L, Wine B. {{Speak Up: Increasing Conversational Volume in a Child with Autism Spectrum Disorder}}. {Behav Anal Pract};2017 (Dec);10(4):407-410.
Deficits in social interactions are a hallmark of autism spectrum disorder. This study examined one relatively uncommon aspect of social interactions that has not received much attention from the literature: appropriate conversational volume. Conversational speech volume was measured using a commercially available application, and a package intervention was developed that consisted of feedback from the voice measuring application, signaling from a wrist bracelet, and differential reinforcement. The intervention was evaluated in an ABAB design and speaking at conversational volume was significantly increased when the intervention was in place and in probe conditions.
Lien vers le texte intégral (Open Access ou abonnement)
9. Eid AM, Aljaser SM, AlSaud AN, Asfahani SM, Alhaqbani OA, Mohtasib RS, Aldhalaan HM, Fryling M. {{Training Parents in Saudi Arabia to Implement Discrete Trial Teaching with their Children with Autism Spectrum Disorder}}. {Behav Anal Pract};2017 (Dec);10(4):402-406.
The present study evaluates the effects of a behavioral skill training package on parent implementation of discrete trial teaching with their children with autism spectrum disorder. Three mothers of children with autism participated in the study. The training package improved implementation for all three of the mothers. Moreover, these improvements generalized to skills that were not taught during training, maintained during follow-up probes, and resulted in improvements in child behavior.
Lien vers le texte intégral (Open Access ou abonnement)
10. Forrest MP, Hill MJ, Kavanagh DH, Tansey KE, Waite AJ, Blake DJ. {{The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability}}. {Schizophr Bull};2017 (Dec 8)
Background: Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt-Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD). Methods: Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools. Results: We identify 10604 TCF4 binding sites in the genome that were assigned to 5437 genes. De novo motif enrichment found that most TCF4 binding sites contained at least one E-box (5′-CAtcTG). Approximately 77% of TCF4 binding sites overlapped with the H3K27ac histone modification for active enhancers. Enrichment analysis on the set of TCF4 targets identified numerous, highly significant functional clusters for pathways including nervous system development, ion transport and signal transduction, and co-expression modules for genes associated with synaptic function and brain development. Importantly, we found that genes harboring de novo mutations in schizophrenia (P = 5.3 x 10-7), ASD (P = 2.5 x 10-4), and ID (P = 7.6 x 10-3) were also enriched among TCF4 targets. TCF4 binding sites were also found at other schizophrenia risk loci including the nicotinic acetylcholine receptor cluster, CHRNA5/CHRNA3/CHRNB4 and SETD1A. Conclusions: These data demonstrate that TCF4 binding sites are found in a large number of neuronal genes that include many genetic risk factors for common neurodevelopmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
11. Guan J, Li G. {{Characteristics of unintentional drowning deaths in children with autism spectrum disorder}}. {Inj Epidemiol};2017 (Dec 8);4(1):32.
BACKGROUND: The reported prevalence of autism spectrum disorder (ASD) has increased markedly in the past two decades. Recent research indicates that children with ASD are at a substantially increased risk of injury mortality, particularly from unintentional drowning. The purpose of this study was to explore the circumstances of fatal unintentional drowning incidents involving children with ASD under 15 years of age. FINDINGS: During January 2000 through May 2017, US newspapers reported a total of 23 fatal drowning incidents involving 18 boys and 5 girls with ASD. Age of victims ranged from 3 to 14 years (mean = 7.7 +/- 2.9 years). These drowning incidents most commonly occurred in ponds (52.2%), followed by rivers (13.0%), and lakes (13.0%). For 11 incidents with location data available, the distance between victim residence and the water body where drowning occurred averaged 290.7 m (+/- 231.5 m). About three-quarters (73.3%) of the drowning incidents occurred in the afternoon hours from 12:00 to 18:59. Wandering was the most commonly reported activity that led to drowning, accounting for 73.9% of the incidents. CONCLUSIONS: Fatal drowning in children with ASD typically occur in water bodies near the victims’ homes in the afternoon hours precipitated by wandering. Multifaceted intervention programs are urgently needed to reduce the excess risk of drowning in children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
12. Hartley C, Fisher S. {{Mine is better than yours: Investigating the ownership effect in children with autism spectrum disorder and typically developing children}}. {Cognition};2017 (Dec 4);172:26-36.
Ownership has a unique and privileged influence on human psychology. Typically developing (TD) children judge their objects to be more desirable and valuable than similar objects belonging to others. This ‘ownership effect’ is due to processing one’s property in relation to ‘the self’. Here we explore whether children with autism spectrum disorder (ASD) – a population with impaired self-understanding – prefer and over-value property due to ownership. In Experiment 1, we discovered that children with ASD did not favour a randomly endowed toy and frequently traded for a different object. By contrast, TD children showed a clear preference for their randomly endowed toy and traded infrequently. Both populations also demonstrated highly-accurate tracking of owner-object relationships. Experiment 2 showed that both TD children and children with ASD over-value their toys if they are self-selected and different from other-owned toys. Unlike TD children, children with ASD did not over-value their toys in comparison to non-owned identical copies. This finding was replicated in Experiment 3, which also established that mere ownership elicited over-valuation of randomly endowed property in TD children. However, children with ASD did not consistently regard their randomly endowed toys as the most valuable, and evaluated property irrespective of ownership. Our findings show that mere ownership increases preferences and valuations for self-owned property in TD children, but not children with ASD. We propose that deficits in self-understanding may diminish ownership effects in ASD, eliciting a more economically-rational strategy that prioritises material qualities (e.g. what a toy is) rather than whom it belongs to.
Lien vers le texte intégral (Open Access ou abonnement)
13. Hirano D, Taniguchi T. {{Skin injuries and joint contractures of the upper extremities in Rett syndrome}}. {J Intellect Disabil Res};2018 (Jan);62(1):53-59.
OBJECTIVES: The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome. METHODS: In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan. Descriptive statistics were used to indicate frequency in each question. RESULTS: Information was acquired from 216 cases (3-53 years old) with Rett syndrome. Skin injuries and joint contractures of the upper extremities were observed in 41% and 49% of individuals with Rett syndrome, respectively. Most of the skin injuries were observed on the hands (19%) and fingers (29%). The incidence of skin injuries was not affected by age or disease severity. Many joint contractures were observed in the shoulder (33%) and elbow (29%) joints. Joint contractures tended to occur in individuals aged over 10 years or with severe locomotor impairment. CONCLUSION: Almost half of the Rett syndrome subjects assessed in the present study had skin injuries and joint contractures. Especially, the incidence of joint contractures was affected by age and disease severity. Thus, it is important that medical staff attempt to prevent the occurrence of skin injuries and joint contractures in this patient population.
Lien vers le texte intégral (Open Access ou abonnement)
14. Janus M, Mauti E, Horner M, Duku E, Siddiqua A, Davies S. {{Behavior profiles of children with autism spectrum disorder in kindergarten: Comparison with other developmental disabilities and typically developing children}}. {Autism Res};2017 (Dec 8)
Monitoring behavior patterns that may be specific to autism spectrum disorder (ASD) at a population level has the potential to improve the allocation of intervention strategies and reduction of the burden of the disease. In Ontario, Canada, developmental data are regularly collected for all kindergarten children with the Early Development Instrument (EDI), a teacher-completed questionnaire that provides information on children’s status in five domains: physical, social, emotional, language/cognitive, and communication/general knowledge. Our main research questions are: (a) are there differences in kindergarten EDI domain scores between children who are diagnosed with ASD by Grade 3 and those who develop typically or have other disabilities?; (b) do these differences show a different pattern in relation to an early (by kindergarten) or late (by Grade 3) diagnosis?; and (c) are there specific subdomains on the EDI that demonstrate a consistent pattern of differences? EDI domain and subdomain scores were compared among groups using multivariate analysis of variance controlling for age, gender, EDI year, and EDI year by age interaction. Children with ASD, regardless of timing of identification, had significantly lower scores on all domains of the EDI than typically developing children. Children with later ASD diagnosis had higher scores in kindergarten in cognitive areas but lower scores in social-emotional areas than children with other disabilities. These findings support the potential of the EDI to monitor ASD-like behaviors at the population level. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Identifying behavior patterns among kindergarten children that may be specific to autism spectrum disorder (ASD) at a population level has the potential to improve intervention strategies and thus reduce the burden of the disease. In Ontario, Canada, developmental data are regularly collected with the Early Development Instrument (EDI) for all kindergarten children. The behavior in kindergarten of a sub-population of children diagnosed with developmental disabilities by age 9 is investigated here for patterns that may distinguish children with ASD from those with other disorders. Children with later ASD diagnosis had higher scores in kindergarten in cognitive areas but lower scores in social-emotional areas than children with other disabilities, indicating meaningful differences between those groups even before diagnosis. These results support the potential of using the EDI to monitor ASD-like behaviors at the population level.
Lien vers le texte intégral (Open Access ou abonnement)
15. Kelly MP, Kim HJ, Ames CP, Burton DC, Carreon LY, Polly DW, Jr., Hostin R, Jain A, Gum JL, Lafage V, Schwab FJ, Shaffrey CI, Smith JS, Bess S. {{Minimum Detectable Measurement Difference (MDMD) for Health Related Quality of Life (HRQL) Measures Varies According Age and Disability in Adult Spinal Deformity (ASD): Implications for Calculating Minimal Clinically Important Difference (MCID)}}. {Spine (Phila Pa 1976)};2017 (Dec 5)
STUDY DESIGN: Retrospective cohort. OBJECTIVE: To investigate the minimum detectable measurement difference (MDMD) in the Scoliosis Research Society-22r (SRS-22r) outcomes instrument in adult spinal deformity (ASD) and to evaluate the effect of baseline data on measurable difference. SUMMARY OF BACKGROUND DATA: The minimum clinically important difference (MCID) is the smallest, clinically relevant change observed and has been proposed for the SRS-22r instrument in ASD as 0.4. The MCID must be greater than the MDMD to be useful. The MDMD for the SRS-22r has not been calculated, nor have the effect of patient baseline values on MDMD. METHODS: A prospective observation cohort was queried for patients treated both operatively and nonoperatively for ASD. Patients with baseline and 1-year, 2-year followup SRS-22r data were included in the analysis. The MDMD was calculated using classical test theory and item-response theory methods. Effect size and standardized response means were calculated. The effect of baseline data values was evaluated for MDMD. RESULTS: 839 Patients were eligible for cohort inclusion with 428 (51%) eligible for analysis with complete data. MDMD for Pain (0.6) and Self Image (0.5) were greater than 0.4. MDMD varied with age (highest for the youngest patients) and with disability (highest for SF-36 Physical Component Summary < 28.6). MDMD was less than 0.4 for Activity (0.3), Mental Health (0.3), and Total Score (0.2). Gender and mental health did not affect MDMD for the SRS-22r instrument. CONCLUSIONS: An MCID of 0.4 for the SRS-22r total score and domain scores may not be an appropriate value as the calculated MDMD is greater than 0.4 for both the Pain and Self Image subscores. The MDMD for the SRS-22r instrument varied with age and baseline disability, making the assessment of clinically significant change more difficult using this tool. The MCID must be considered in the setting of the MDMD for instruments used to assess outcomes in ASD. LEVEL OF EVIDENCE: 3. Lien vers le texte intégral (Open Access ou abonnement)
16. Kornack J, Herscovitch B, Williams AL. {{A Response to Papatola and Lustig’s Paper on Navigating a Managed Care Peer Review: Guidance for Clinicians Using Applied Behavior Analysis in the Treatment of Children on the Autism Spectrum}}. {Behav Anal Pract};2017 (Dec);10(4):386-394.
In their 2016 article, « Navigating a Managed Care Peer Review: Guidance for Clinicians Using Applied Behavior Analysis [ABA] in the Treatment of Children on the Autism Spectrum, » Papatola and Lustig provide an overview of the managed care process, discuss the medical necessity of ABA, and offer guidance to clinicians on how to navigate the managed care peer review process. Given that the authors are employed by a large international health insurance carrier and conduct peer reviews on behalf of that organization, this response seeks to provide guidance from both the clinical and public policy perspectives that reflect best practices in the field of autism treatment. This response is not written with the intention of providing or replacing legal advice; rather, this paper offers health care providers of ABA an essential understanding of some of the laws that govern and support their efforts to secure medically necessary treatment and the mechanisms in place with which to challenge decisions by managed care organizations, health plans, and health insurance issuers that may be contrary to best practices. Finally, suggestions are offered on how to navigate a peer review to ensure optimal outcomes and, when necessary, to lay the groundwork to overturn a funding source decision that does not reflect best practices or the standard of care in ABA-based autism treatment.
Lien vers le texte intégral (Open Access ou abonnement)
17. Kramer JM, Hwang IT, Levin M, Acevedo-Garcia D, Rosenfeld L. {{Identifying environmental barriers to participation: Usability of a health-literacy informed problem-identification approach for parents of young children with developmental disabilities}}. {Child Care Health Dev};2017 (Dec 7)
BACKGROUND: Parents of very young children recently diagnosed with developmental disabilities (DD) need to identify environmental barriers to their children’s participation and adopt an adaptive orientation to solving these problems. Given the health service disparities for diverse families, parents may benefit from easy to use problem-identification approaches that address environmental barriers stemming from community and policy contexts. This feasibility study evaluated the usability of a health literacy-informed, structured, environment-focused problem-identification approach for parents of young children with DD. METHODS: We used purposeful, convenience sampling to enrol 9 mothers of children ages 1-3 with DD (4 racial/ethnic minorities, 3 high school education, 4 annual household income <$20,000). We developed a structured problem-identification approach guided by a social ecological model featuring home, community, and policy contexts. The approach was applied to 3 short stories during a narrative elicitation interview. Two researchers independently coded parent responses for the type of barrier and solution identified with and without the approach. RESULTS: Parents identified 121 environmental barriers without the approach. When using the approach and prompted to consider home, community, and policy barriers, parents identified an additional 222 environmental barriers; the greatest number of barriers were aligned with International Classification of Functioning, Disability, and Health-Children and Youth environment Chapter 5 "Services, systems, and policies." Using the approach, parents with a postgraduate education and annual household income >$80,000 identified the most environmental barriers, and parents reporting the lowest annual household incomes identified the fewest environmental barriers. When parents attributed participation challenges to an environmental barrier, ~57% of solutions required parents to interact with individuals at the community or policy level. CONCLUSIONS: This study suggests that parents with a range of background characteristics can use a structured, environment-focused problem-identification approach. With the approach, parents are more likely to attribute participation challenges to environmental barriers and adopt a problem-solving orientation focused on changes to the community and policy context. Key Messages In this study, the structured, environment-focused problem-identification approach led parents to identify additional environmental barriers, particularly policy barriers, which they did not consider during independent problem identification. Parents with previous exposure to professionals who helped identify and resolve environmental barriers to their children’s participation may most benefit from the structured, environment-focused problem-identification approach. Parents’ ability to attribute participation restrictions to environmental barriers is linked to parents’ orientation to solving participation challenges using community and policy level solutions.
Lien vers le texte intégral (Open Access ou abonnement)
18. Lee TT, Skafidas E, Dottori M, Zantomio D, Pantelis C, Everall I, Chana G. {{No preliminary evidence of differences in astrocyte density within the white matter of the dorsolateral prefrontal cortex in autism}}. {Mol Autism};2017;8:64.
Background: While evidence for white matter and astrocytic abnormalities exist in autism, a detailed investigation of astrocytes has not been conducted. Such an investigation is further warranted by an increasing role for neuroinflammation in autism pathogenesis, with astrocytes being key players in this process. We present the first study of astrocyte density and morphology within the white matter of the dorsolateral prefrontal cortex (DLPFC) in individuals with autism. Methods: DLPFC formalin-fixed sections containing white matter from individuals with autism (n = 8, age = 4-51 years) and age-matched controls (n = 7, age = 4-46 years) were immunostained for glial fibrillary acidic protein (GFAP). Density of astrocytes and other glia were estimated via the optical fractionator, astrocyte somal size estimated via the nucleator, and astrocyte process length via the spaceballs probe. Results: We found no evidence for alteration in astrocyte density within DLPFC white matter of individuals with autism versus controls, together with no differences in astrocyte somal size and process length. Conclusion: Our results suggest that astrocyte abnormalities within the white matter in the DLPFC in autism may be less pronounced than previously thought. However, astrocytic dysregulation may still exist in autism, even in the absence of gross morphological changes. Our lack of evidence for astrocyte abnormalities could have been confounded to an extent by having a small sample size and wide age range, with pathological features potentially restricted to early stages of autism. Nonetheless, future investigations would benefit from assessing functional markers of astrocytes in light of the underlying pathophysiology of autism.
Lien vers le texte intégral (Open Access ou abonnement)
19. Lerman DC, White B, Grob C, Laudont C. {{A Clinic-Based Assessment for Evaluating Job-Related Social Skills in Adolescents and Adults with Autism}}. {Behav Anal Pract};2017 (Dec);10(4):323-336.
Many individuals with autism spectrum disorder (ASD) have difficulties obtaining and maintaining employment, yet little research has evaluated methods for assessing and improving critical vocational skills. In this study, we evaluated an assessment of job-related social skills for individuals with ASD by arranging conditions that simulated on-the-job experiences in a clinic setting. The experimenter contrived situations to assess a variety of social skills, including asking for help, asking for more materials, and responding to corrective feedback. A total of eight individuals, aged 16 to 32 years, participated. Results suggested that the assessment was useful for identifying specific social skills that could be targeted for intervention to increase success in the work environment. These findings add to the current literature by demonstrating an objective method for assessing a variety of job-related social skills under controlled, naturalistic conditions.
Lien vers le texte intégral (Open Access ou abonnement)
20. Lomas Mevers JE, Call NA, Miller SJ. {{Practice Recommendations for Addressing Problem Behaviors in Siblings with Autism Spectrum Disorder}}. {Behav Anal Pract};2017 (Dec);10(4):363-374.
Children with autism spectrum disorder (ASD) display an increased prevalence of problem behavior, relative to the typically developing population. Given the heritability of ASD and its growing prevalence, clinicians who implement behavioral treatments are likely to encounter families with siblings with ASD who exhibit problem behavior. Thus, there is a need for guidance for treatment of problem behavior for these families. This paper presents strategies for conducting behavioral assessments, developing treatments for problem behaviors, caregiver training, and generalization strategies when there are multiple affected children in one family. A case study is presented to illustrate the key clinical decisions made to increase the likelihood of a successful treatment outcome for these families.
Lien vers le texte intégral (Open Access ou abonnement)
21. Marshall B, Kollia B, Wagner V, Yablonsky D. {{Identifying Depression in Parents of Children With Autism Spectrum Disorder: Recommendations for Professional Practice}}. {J Psychosoc Nurs Ment Health Serv};2017 (Dec 6):1-5.
Parents of children with autism spectrum disorder (ASD) face many challenges, not the least of which can be dealing with their own depression. Depression decreases an individual’s capacity for self-care and is often overlooked in this population striving to manage the demands of parenting their child with ASD. This article examines current literature related to prevalence, diagnosis, and interventions for depression in parents of children with ASD. The review indicates that depression is more common in parents of children with ASD than in the general public. However, most literature addresses parenting skills rather than depression and associated self-care deficits identified in these parents. Suggestions for best practice models and proactive interventions to caregivers are provided. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.].
Lien vers le texte intégral (Open Access ou abonnement)
22. Martin L, McKenzie K, Ouellette-Kuntz H. {{Once frail, always frail? Frailty transitions in home care users with intellectual and developmental disabilities}}. {Geriatr Gerontol Int};2017 (Dec 7)
AIM: Frailty is understood as a dynamic non-linear process, and used to indicate age-related decline. Recent work has shown that adults with intellectual and developmental disabilities experience higher rates of frailty at much earlier ages than the general population. The present study describes transitions in frailty status (i.e. non-frail, pre-frail, frail) over 1 year, and explores the association between baseline frailty status and worsening/death over time. METHODS: Results are based on secondary analysis of 2893 individuals with intellectual and developmental disabilities receiving community-based home care services in Ontario (Canada). Frailty status is based on a validated 42-item frailty index (FI); where FI 0.30 indicates frail. Baseline characteristics of frailty groups at baseline were compared using the chi(2) -test/analysis of variance. Relative risk of worsening/dying was calculated using a modified Poisson regression model. RESULTS: Initially, 67.0% of participants were non-frail, 16.2% were pre-frail and 16.8% were frail. Of those non-frail at baseline, 84.3% remained non-frail, 11.8% worsened and 3.9% died. Among those initially pre-frail, 37.0% remained stable, 35.3% improved, 18.2% worsened and 9.6% died. Although similar proportions of frail individuals improved (37.4%) or remained stable (36.8%), 25.9% had died. After controlling for other factors, being pre-frail at baseline was associated with an increase in the risk of worsening or death (RR 1.24, 95% CI 1.04-1.49). CONCLUSIONS: While many experience worsening of frailty status, stability and improvement are viable goals of care. Future research should examine the rate at which non-frail, pre-frail and frail individuals accumulate deficits, as well as the impact of home care services on frailty. Geriatr Gerontol Int 2017; **: **-**.
Lien vers le texte intégral (Open Access ou abonnement)
23. Masi A, Breen EJ, Alvares GA, Glozier N, Hickie IB, Hunt A, Hui J, Beilby J, Ravine D, Wray J, Whitehouse AJO, Guastella AJ. {{Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder}}. {Mol Autism};2017;8:63.
Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments. Research exploring the relationship between cytokine profiles and ASD symptoms is, however, in its infancy. The objective of this study was to explore relationships between cytokine levels and the severity of ASD and other clinical traits. Methods: Multiplex assay techniques were used to measure levels of 27 cytokines in plasma samples from a cohort of 144 children diagnosed with ASD. Results: Overall, results showed a significant negative association between platelet-derived growth factor (PDGF)-BB, and the severity of ASD symptoms. Furthermore, a significant interaction with sex suggested a different immune profile for females compared to males. ASD symptom severity was negatively associated with levels of 4 cytokines, IL-1beta, IL-8, MIP-1beta, and VEGF, in females, but not in males. Conclusions: Results of the present study suggest that an altered cytokine response or profile is associated with the severity of ASD-related symptoms, with sex a potential modifier of this relationship. Further research in larger populations which recognizes the importance of sex comparisons and longitudinal assessments are now required to extend and further describe the role of the immune system in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
24. Meguid NA, Nashaat NH, Hashem HS, Khalil MM. {{Frequency of risk factors and coexisting abnormalities in a population of Egyptian children with autism spectrum disorder}}. {Asian J Psychiatr};2017 (Dec 1);32:54-58.
BACKGROUND: Many risk factors interact together during the critical period of development and govern the future phenotype of autism spectrum disorder (ASD). Furthermore, co-occurring abnormalities among individuals with ASD vary a lot so as their abilities. AIM OF WORK: To investigate possible risk factors and to determine the prevalence of coexisting abnormalities in a sample of Egyptian ASD children and their influence on the severity and their communication performance. METHODS: The diagnosis and severity of ASD for participants (N=80) was performed by DSM-5, ADIR and CARS. They were investigated regarding the possible risk factors and coexisting abnormalities. A detailed history taking, clinical examination, the Arabic preschool language scale, cognitive abilities assessment and other additional instrumental measures such as EEG were used. RESULTS: Caesarian section and neonatal jaundice were the most common risk factors. The severity of ASD was positively related to maternal and paternal ages. Developmental language disorder, intellectual disability, attention deficit hyperactivity disorder, sleep disorder and EEG changes were more frequently detected among studied cases. The CARS scores were significantly higher in ADHD and EEG changes groups. The most severely affected CARS items in the groups with these disorders were determined. CONCLUSION: High parental ages has an impact on the severity of ASD. ADHD, sleep disorder, and EEG changes seem to have an impact on certain elements of the adaptive behavior especially the communicative performance of ASD individuals. We recommend to seriously investigate co-morbid abnormalities and consider them during the process of management of ASD for proper intervention plans.
Lien vers le texte intégral (Open Access ou abonnement)
25. Metcalfe SA, Delatycki MB, Cohen J, Archibald AD, Emery JD. {{Fragile X population carrier screening}}. {Genet Med};2017 (Dec 7)
Lien vers le texte intégral (Open Access ou abonnement)
26. Mruzek DW, McAleavey S, Loring WA, Butter E, Smith T, McDonnell E, Levato L, Aponte C, Travis RP, Aiello RE, Taylor CM, Wilkins JW, Corbett-Dick P, Finkelstein DM, York AM, Zanibbi K. {{A pilot investigation of an iOS-based app for toilet training children with autism spectrum disorder}}. {Autism};2017 (Dec 1):1362361317741741.
We developed an iOS-based app with a transmitter/disposable sensor and corresponding manualized intervention for children with autism spectrum disorder. The app signaled the onset of urination, time-stamped accidents for analysis, reminded parents to reinforce intervals of continence, provided a visual outlet for parents to communicate reinforcement, and afforded opportunity for timely feedback from clinicians. We compared this intervention with an intervention that uses standard behavioral treatment in a pilot randomized controlled trial of 33 children with autism spectrum disorder aged 3-6 years with urinary incontinence. Parents in both groups received initial training and four booster consultations over 3 months. Results support the feasibility of parent-mediated toilet training studies (e.g., 84% retention rate, 92% fidelity of parent-implemented intervention). Parents used the app and related technology with few difficulties or malfunctions. There were no statistically significant group differences for rate of urine accidents, toilet usage, or satisfaction at close of intervention or 3-month follow-up; however, the alarm group trended toward greater rate of skill acquisition with significantly less day-to-day intervention. Further development of alarm and related technology and future comparative studies with a greater number of participants are warranted.
Lien vers le texte intégral (Open Access ou abonnement)
27. Olliac B, Crespin G, Laznik MC, Cherif Idrissi El Ganouni O, Sarradet JL, Bauby C, Dandres AM, Ruiz E, Bursztejn C, Xavier J, Falissard B, Bodeau N, Cohen D, Saint-Georges C. {{Infant and dyadic assessment in early community-based screening for autism spectrum disorder with the PREAUT grid}}. {PLoS One};2017;12(12):e0188831.
BACKGROUND: The need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome. METHODS: We assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children. RESULTS: Of the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0-36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65-220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24 months, were similar [PREAUT-4: Se = 16.0 to 20.6%, PPV = 25.4 to 26.3%; PREAUT-9: Se = 30.5 to 41.2%, PPV = 20.2 to 36.4%; and CHAT-24: Se = 33.9 to 41.5%, PPV = 27.3 to 25.9%]. The repeated use of the screening instruments increased the Se but not PPV estimates [PREAUT and CHAT combined: Se = 67.9 to 77.7%, PPV = 19.0 to 28.0%]. CONCLUSIONS: The PREAUT grid can contribute to very early detection of ASD and its combination with the CHAT may improve the early diagnosis of ASD and other neurodevelopmental disorders. Lien vers le texte intégral (Open Access ou abonnement)
28. O’Nions E, Happe F, Evers K, Boonen H, Noens I. {{How do Parents Manage Irritability, Challenging Behaviour, Non-Compliance and Anxiety in Children with Autism Spectrum Disorders? A Meta-Synthesis}}. {J Autism Dev Disord};2017 (Dec 8)
Although there is increasing research interest in the parenting of children with ASD, at present, little is known about everyday strategies used to manage problem behaviour. We conducted a meta-synthesis to explore what strategies parents use to manage irritability, non-compliance, challenging behaviour and anxiety in their children with ASD. Approaches included: (1) accommodating the child; (2) modifying the environment; (3) providing structure, routine and occupation; (4) supervision and monitoring; (5) managing non-compliance with everyday tasks; (6) responding to problem behaviour; (7) managing distress; (8) maintaining safety and (9) analysing and planning. Results suggest complex parenting demands in children with ASD and problem behaviour. Findings will inform the development of a new measure to quantify parenting strategies relevant to ASD.
Lien vers le texte intégral (Open Access ou abonnement)
29. Platos M, Wojaczek K. {{Broadening the Scope of Peer-Mediated Intervention for Individuals with Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Dec 8)
Peer-mediated intervention (PMI) is most commonly defined as a treatment approach that engages typically developing peers to teach children with autism spectrum disorders (ASD) social skills and increase their social interactions, mainly in a school setting. In this letter, we address the limitations of such understanding of PMI and review the arguments for broadening its scope. In particular, we argue that there is a critical need for research on PMI that focuses on friendship, social participation, and well-being of adolescents and adults with ASD, as well as engages peers in the community settings. In conclusion, we provide a description of a befriending scheme for individuals with ASD to inspire future research and guidelines on PMI.
Lien vers le texte intégral (Open Access ou abonnement)
30. Rajaratnam A, Shergill J, Salcedo-Arellano M, Saldarriaga W, Duan X, Hagerman R. {{Fragile X syndrome and fragile X-associated disorders}}. {F1000Res};2017;6:2112.
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.
Lien vers le texte intégral (Open Access ou abonnement)
31. Shepherd D, Csako R, Landon J, Goedeke S, Ty K. {{Documenting and Understanding Parent’s Intervention Choices for Their Child with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Dec 6)
Understanding why parents choose some interventions but not others for their child with autism is important for a number of reasons. Estimating the proportion of evidence-based interventions engaged, identifying the agencies influencing parental decisions, and elucidating the barriers or reasons leading to intervention rejection or discontinuation can result in better service provision. New Zealand parents (n = 570) of a child with autism reported what interventions were being engaged, and why some interventions were engaged but not others. Funding was a major determinant of intervention engagement, while medical professionals exerted the most influence. Sources of support were not related to intervention engagement, but parental perceptions of their child’s symptom severity were. Finally, non-engagement does not necessarily reflect parental opposition to an intervention, but rather the existence of barriers.
Lien vers le texte intégral (Open Access ou abonnement)
32. Sivaraman M. {{Using Multiple Exemplar Training to Teach Empathy Skills to Children with Autism}}. {Behav Anal Pract};2017 (Dec);10(4):337-346.
The purpose of the study was to use multiple exemplar training to teach empathetic responding to two children with autism. Three emotions-happiness, frustration and sadness/pain-were chosen for this purpose. Treatment consisted of verbal prompting and reinforcement of empathetic responses. Four experimenter-defined categories with discriminative stimuli were used for each emotion. The multiple exemplar component of the model consisted of teaching responses in the presence of several discriminative stimuli drawn from the predefined categories for each emotion delivered by two persons across two environments. Results were evaluated using a multiple baseline design across behaviours and indicate a systematic increase in responses with the introduction of treatment across each category for both participants. Generalization of responses from training to non-training stimuli in both participants was observed during probe trials and was maintained during follow-up probes.
Lien vers le texte intégral (Open Access ou abonnement)
33. Vasquez S, Brewer A, Leon Y, Vasquez J. {{The Effects of Advance Notice on Problem Behavior Occasioned by Interruptions of an Ongoing Activity in a Young Girl with Autism}}. {Behav Anal Pract};2017 (Dec);10(4):417-421.
The current study describes a trial-based functional analysis of problem behavior conducted in a home setting for a 7-year-old girl with autism. Problem behavior was occasioned by interruptions to an ongoing activity. Advance notice, in the form of a 2-min warning, and the sound of a timer were used to signal termination of a current activity and were effective at reducing problem behavior along with increasing compliance to the interruptive demands. A trial-based functional analysis, which are not common in the applied literature, was conducted in a home setting for young girl with autism, using antecedent and consequence modifications described by Hagopian, Bruzek, Bowman, and Jennett (2007), identified the variables that occasioned and maintained problem behavior were interruptions to an ongoing activity followed by regaining uninterrupted access to the previous activity. Mixed findings have been reported regarding the effectiveness of advance notice for decreasing problem behavior. Results of the current study show that an advance notice treatment package was effective for a child with autism; no escape extinction was necessary. Interruptions are part of everyday life and tolerating these changes is critical for habilitation for individuals with autism.
Lien vers le texte intégral (Open Access ou abonnement)
34. Yoshimura Y, Kikuchi M, Hayashi N, Hiraishi H, Hasegawa C, Takahashi T, Oi M, Remijn GB, Ikeda T, Saito DN, Kumazaki H, Minabe Y. {{Altered human voice processing in the frontal cortex and a developmental language delay in 3- to 5-year-old children with autism spectrum disorder}}. {Sci Rep};2017 (Dec 7);7(1):17116.
The inferior frontal and superior temporal areas in the left hemisphere are crucial for human language processing. In the present study, we investigated the magnetic mismatch field (MMF) evoked by voice stimuli in 3- to 5-year-old typically developing (TD) children and children with autism spectrum disorder (ASD) using child-customized magnetoencephalography (MEG). The children with ASD exhibited significantly decreased activation in the left superior temporal gyrus compared with the TD children for the MMF amplitude. If we classified the children with ASD according to the presence of a speech onset delay (ASD – SOD and ASD – NoSOD, respectively) and compared them with the TD children, both ASD groups exhibited decreased activation in the left superior temporal gyrus compared with the TD children. In contrast, the ASD – SOD group exhibited increased activity in the left frontal cortex (i.e., pars orbitalis) compared with the other groups. For all children with ASD, there was a significant negative correlation between the MMF amplitude in the left pars orbitalis and language performance. This investigation is the first to show a significant difference in two distinct MMF regions in ASD – SOD children compared with TD children.
