Pubmed du 24/10/18

mercredi 24 octobre 2018

1. Bjorklund G, Meguid NA, El-Ansary A, El-Bana MA, Dadar M, Aaseth J, Hemimi M, Osredkar J, Chirumbolo S. Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2018.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder afflicting about one in every 68 children. It is behaviorally diagnosed based on a triad of symptoms, including impairment in communication, impairment in sociability and abnormal and stereotypic behavior. The subjectivity of behavioral diagnosis urges the need for clinical biomarker tests to improve and complement ASD diagnosis and treatment. Over the past two decades, researchers garnered a broad range of biomarkers associated with ASD and often correlating with the severity of ASD, which includes metabolic and genetic biomarkers or neuroimaging abnormalities. Metabolic biomarkers are either involved in key pathways such as a trans-sulfuration pathway or produced due to the derangement of these pathways in the case of oxidative stress. Recent studies reported several genetic abnormalities related to ASD, encompassing various mechanisms, from copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) to chromosomal anomalies. However, it is still premature to consider these genetic variants as true biomarkers for ASD, due to their low reproducibility and regional-specific nature. Herein, we comprehensively review state of the art about major biomarkers reported in ASD and the association of some biomarkers with ASD symptoms and severity. It is important to establish those biomarkers to be able to help in the diagnosis and to optimize the treatment of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

2. Constantino JN. Early behavioral indices of inherited liability to autism. Pediatric research. 2018.

Recent developmental studies have indicated that autism spectrum disorder (ASD) may arise from critical combinations of specific early neurobehavioral susceptibilities, each of which may be traceable to partially independent sets of genetic variation. These susceptibilities and their respective genetic origins may not relate to the characterizing symptoms of ASD (after it develops) in a straightforward way. Furthermore, some of the contributory liabilities may not necessarily be specific to ASD, and may account for "missing heritability" in molecular genetic studies. Identifying common genetic variants linked to these underlying traits rather than to a diagnosis of ASD may account for a greater share of the population-attributable risk for ASD, especially if autism represents a developmental consequence of earlier-interacting susceptibilities. To elucidate the early endophenotypic structure for the development of autism will require testing of a next generation of viable early phenotypic candidates in a manner that is epidemiologically rigorous, in which the distinction between ASD prediction in the general population and ASD prediction of autism recurrence (i.e., within families affected by ASD) is closely attended to, and in which the relationships between endophenotypic candidates are mapped and normed.

Lien vers le texte intégral (Open Access ou abonnement)

3. Cummins C, Pellicano E, Crane L. Supporting Minimally Verbal Autistic Girls with Intellectual Disabilities Through Puberty : Perspectives of Parents and Educators. Journal of autism and developmental disorders. 2018.

Limited research has examined puberty in autistic girls, yet alone those who are minimally verbal and with additional intellectual disabilities. In this study, ten parents and ten educators were interviewed about their views and experiences of supporting these girls through puberty. Results demonstrated that many parents had concerns prior to the onset of puberty in these girls. Yet, for most girls, experiences of puberty were felt to be positive, with the girls coping well with changes that they were experiencing (e.g. menstruation, breast development and developing body hair). Thematic analysis of interview data highlighted three main themes : a range of individual experiences and needs ; the importance of promoting dignity and respect ; and identifying ways to support these girls through puberty.

Lien vers le texte intégral (Open Access ou abonnement)

4. Gardner L, Campbell JM, Westdal J. Brief Report : Descriptive Analysis of Law Enforcement Officers’ Experiences with and Knowledge of Autism. Journal of autism and developmental disorders. 2018.

Individuals with Autism Spectrum Disorder (ASD) may interact with law enforcement officers (LEOs) as victims of crime, witnesses to crime, or suspects of crime. Interactions between LEOs and those with ASD may go awry which raises questions about levels of training, experiences, and knowledge acquired by LEOs. Seventy-two LEOs reported on their experiences and training related to ASD and completed a survey of autism knowledge. The majority (72.2%) of LEOs reported no formal training for interacting with individuals with ASD. For LEOs responding to calls involving ASD, officers with prior training reported better preparation. Officers’ responses to the knowledge survey varied considerably. Results support the need for formalized training in ASD for LEOs.

Lien vers le texte intégral (Open Access ou abonnement)

5. Govind N. Family Therapy for Autism Spectrum Disorders. Issues in mental health nursing. 2018 : 1-2.

Lien vers le texte intégral (Open Access ou abonnement)

6. Hollin G, Pearce W. Autism Scientists’ Reflections on the Opportunities and Challenges of Public Engagement : A Qualitative Analysis. Journal of autism and developmental disorders. 2018.

This article draws upon qualitative interviews in order to examine how UK based research psychologists understand public engagement activities and interactions with autistic advocates. Researchers describe public engagement as difficult and understand these difficulties as stemming from autistic impairments. In particular, it is reported that a heterogeneity of autism impairments means there is little agreement on the form research should take, while socio-communicative impairments make interactions difficult. Conversely, researchers describe autistic individuals as having the capacity to positively influence research. In this paper we discuss the nature of these claims and stress the need for autism-specific modes of engagement to be developed.

Lien vers le texte intégral (Open Access ou abonnement)

7. Joseph L, Farmer C, Chlebowski C, Henry L, Fish A, Mankiw C, Xenophontos A, Clasen L, Sauls B, Seidlitz J, Blumenthal J, Torres E, Thurm A, Raznahan A. Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. Journal of neurodevelopmental disorders. 2018 ; 10(1) : 30.

BACKGROUND : XYY syndrome is a sex chromosome aneuploidy that occurs in 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS : We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS : Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS : By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS : ClinicalTrials.gov NCT00001246 , "89-M-0006 : Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls."

Lien vers le texte intégral (Open Access ou abonnement)

8. Lai MC, Lombardo MV, Chakrabarti B, Ruigrok AN, Bullmore ET, Suckling J, Auyeung B, Happe F, Szatmari P, Baron-Cohen S. Neural self-representation in autistic women and association with ’compensatory camouflaging’. Autism : the international journal of research and practice. 2018 : 1362361318807159.

Prior work has revealed sex/gender-dependent autistic characteristics across behavioural and neural/biological domains. It remains unclear whether and how neural sex/gender differences are related to behavioural sex/gender differences in autism. Here, we examined whether atypical neural responses during mentalizing and self-representation are sex/gender-dependent in autistic adults and explored whether ’camouflaging’ (acting as if behaviourally neurotypical) is associated with sex/gender-dependent neural responses. In total, N = 119 adults (33 typically developing males, 29 autistic males, 29 typically developing females and 28 autistic females) participated in a task-related functional magnetic resonance imaging paradigm to assess neural activation within right temporo-parietal junction and ventromedial prefrontal cortex during mentalizing and self-representation. Camouflaging in autism was quantified as the discrepancy between extrinsic behaviour in social-interpersonal contexts and intrinsic status. While autistic men showed hypoactive right temporo-parietal junction mentalizing and ventromedial prefrontal cortex self-representation responses compared to typically developing men, such neural responses in autistic women were not different from typically developing women. In autistic women only, increasing camouflaging was associated with heightened ventromedial prefrontal cortex self-representation response. There is a lack of impaired neural self-representation and mentalizing in autistic women compared to typically developing women. Camouflaging is heightened in autistic women and may relate to neural self-representation response. These results reveal brain-behaviour relations that help explain sex/gender-heterogeneity in social brain function in autism.

Lien vers le texte intégral (Open Access ou abonnement)

9. Lorang E, Sterling A. The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome. Autism & developmental language impairments. 2017 ; 2.

Background & Aims : This study compared gesture rate and purpose in participants with Down syndrome (DS) and fragile X syndrome (FXS), and the impact of autism spectrum disorder (ASD) symptoms on each syndrome. Methods : Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule - Second Edition. Results : We did not find between-group differences (Down syndrome compared to fragile X syndrome) in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions : Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications : Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with Down syndrome demonstrating symptoms of autism spectrum disorder as distinctly different from children with Down syndrome and few to no symptoms of autism spectrum disorder when implementing interventions or therapy techniques. Severity of autism spectrum disorder symptoms in fragile X syndrome affects qualitative gesture use and motivation to communicate through social gestures, which may be an appropriate goal to target in children with fragile X syndrome and heightened autism spectrum disorder symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

10. Luebbert C, Real D, Sadowski G. Choosing Appropriate Solvents for ASD Preparation. Molecular pharmaceutics. 2018.

Amorphous solid dispersions (ASDs) are often used for formulating poorly water-soluble active pharmaceutical ingredients (APIs). In an ASD, the amorphous API is embedded in a suitable matrix excipient in order to stabilize the amorphous state and control the dissolution performance. ASDs can be prepared by commonly dissolving the API and the polymer in a suitable organic solvent which is evaporated afterward (e.g., via spray drying) aiming at a homogeneous API distribution in the polymer matrix. Sometimes, unexpected solvent influences on the heterogeneity of the dry ASD are observed. Thermodynamic predictions using the Perturbed-Chain Statistical Associating Fluid Theory combined with experimental investigations via Raman spectroscopy, differential scanning calorimetry, and microscopy performed in this work revealed the amorphous phase separation (APS) between the solvent and the polymer as causing the ASD heterogeneities. It will be shown that thermodynamic modeling allows for identifying appropriate solvents that will neither show APS with the polymeric excipient nor at any time of the drying process of ASD formulations.

Lien vers le texte intégral (Open Access ou abonnement)

11. Margolis KG, Buie TM, Turner JB, Silberman AE, Feldman JF, Murray KF, McSwiggan-Hardin M, Levy J, Bauman ML, Veenstra-VanderWeele J, Whitaker AH, Winter HS. Development of a Brief Parent-Report Screen for Common Gastrointestinal Disorders in Autism Spectrum Disorder. Journal of autism and developmental disorders. 2018.

Gastrointestinal dysfunction in children with autism spectrum disorder (ASD) is common and associated with problem behaviors. This study describes the development of a brief, parent-report screen that relies minimally upon the child’s ability to report or localize pain for identifying children with ASD at risk for one of three common gastrointestinal disorders (functional constipation, functional diarrhea, and gastroesophageal reflux disease). In a clinical sample of children with ASD, this 17-item screen identified children having one or more of these disorders with a sensitivity of 84%, specificity of 43%, and a positive predictive value of 67%. If found to be valid in an independent sample of children with ASD, the screen will be useful in both clinical practice and research.

Lien vers le texte intégral (Open Access ou abonnement)

12. Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, Parish-Morris J, Eggebrecht AT, Pruett JR, Jr., Hazlett HC, Zwaigenbaum L, Dager S, Estes AM, Schultz RT, Botteron KN, Piven J, Constantino JN. Language delay aggregates in toddler siblings of children with autism spectrum disorder. Journal of neurodevelopmental disorders. 2018 ; 10(1) : 29.

BACKGROUND : Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS : We implemented two approaches : (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples ; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS : Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS : Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

13. McLaren JL, Lichtenstein JD. The pursuit of the magic pill : the overuse of psychotropic medications in children with intellectual and developmental disabilities in the USA. Epidemiology and psychiatric sciences. 2018 : 1-4.

Children with intellectual and developmental disabilities (IDD) are likely to receive high-risk prescribing practices, such as polypharmacy, long-term use of psychotropic medications, and overuse of antipsychotics. Behavioural interventions, such as applied behavioural analysis, are evidence-based practices for children with IDD and should be the first-line treatment. Short-term use of psychotropic medications may be helpful in reducing the severity and frequency of challenging behaviours while evidence-based behavioural interventions are pursued. In this essay, we offer practical guidelines for better care.

Lien vers le texte intégral (Open Access ou abonnement)

14. Mohammadian Rad N, van Laarhoven T, Furlanello C, Marchiori E. Novelty Detection using Deep Normative Modeling for IMU-Based Abnormal Movement Monitoring in Parkinson’s Disease and Autism Spectrum Disorders. Sensors (Basel, Switzerland). 2018 ; 18(10).

Detecting and monitoring of abnormal movement behaviors in patients with Parkinson’s Disease (PD) and individuals with Autism Spectrum Disorders (ASD) are beneficial for adjusting care and medical treatment in order to improve the patient’s quality of life. Supervised methods commonly used in the literature need annotation of data, which is a time-consuming and costly process. In this paper, we propose deep normative modeling as a probabilistic novelty detection method, in which we model the distribution of normal human movements recorded by wearable sensors and try to detect abnormal movements in patients with PD and ASD in a novelty detection framework. In the proposed deep normative model, a movement disorder behavior is treated as an extreme of the normal range or, equivalently, as a deviation from the normal movements. Our experiments on three benchmark datasets indicate the effectiveness of the proposed method, which outperforms one-class SVM and the reconstruction-based novelty detection approaches. Our contribution opens the door toward modeling normal human movements during daily activities using wearable sensors and eventually real-time abnormal movement detection in neuro-developmental and neuro-degenerative disorders.

Lien vers le texte intégral (Open Access ou abonnement)

15. Oommen A, AlOmar RS, Osman AA, Aljofi HE. Role of environmental factors in autism spectrum disorders in Saudi children aged 3-10 years in the Northern and Eastern regions of Saudi Arabia. Neurosciences (Riyadh, Saudi Arabia). 2018 ; 23(4) : 286-91.

OBJECTIVE : To study the environmental factors which can contribute to the development of autism spectrum disorders in Saudi children aged 3-10 years in Northern region (Arar) and Eastern region (Dammam) in the Kingdom of Saudi Arabia. METHODS : A case control study was conducted and the data was collected from September 2017 to December 2017 by interviewing the parents of 100 Saudi autistic children and 100 normal children aged 3-10 years from Arar and Dammam. A specially designed questionnaire was used to collect the data which includes socio-demographic characteristics of the parents and ante-natal history of the mother and developmental history, social history and dietary habits of the child. To find out the association between environmental factors and development of autism in children, logistic regression with odds ratio used. RESULTS : There was a significant association between consanguineous marriages and autism. A significant association was also found between medications taken by the mother during pregnancy and autism. Significantly lowered ORs for Autism were observed for children in families of perceived adequate income and children consuming a Vitamin-D rich diet. Increased maternal age was observed in autistic children when compared to normal children. CONCLUSION : he environmental factors which could contribute to the development of autism are consanguineous marriage, inadequate family income, medications taken by the mother during pregnancy, vitamin D deficient diet of the child and maternal age during pregnancy.

Lien vers le texte intégral (Open Access ou abonnement)

16. Roemer EJ, West KL, Northrup JB, Iverson JM. Word comprehension mediates the link between gesture and word production : Examining language development in infant siblings of children with Autism Spectrum Disorder. Developmental science. 2018 : e12767.

Children’s gesture production precedes and predicts language development, but the pathways linking these domains are unclear. It is possible that gesture production assists in children’s developing word comprehension, which in turn supports expressive vocabulary acquisition. The present study examines this mediation pathway in a population with variability in early communicative abilities - the younger siblings of children with ASD (High Risk infants ; HR). Participants included 92 HR infants and 28 infants at low risk (LR) for ASD. A primary caregiver completed the MacArthur-Bates Communicative Development Inventory (Fenson et al., 1993) at 12, 14, and 18 months, and HR infants received a diagnostic evaluation for ASD at 36 months. Word comprehension at 14 months mediated the relationship between 12-month gesture and 18-month word production in LR and HR infants (ab = .263 ; p < .01). For LR infants and HR infants with no diagnosis or language delay, gesture was strongly associated with word comprehension (as = .666 ; .646 ; .561 ; ps < .01). However, this relationship did not hold for infants later diagnosed with ASD (a = .073 ; p = .840). This finding adds to a growing literature suggesting that children with ASD learn language differently. Furthermore, this study provides an initial step towards testing the developmental pathways by which infants transition from early actions and gestures to expressive language. This article is protected by copyright. All rights reserved.

Lien vers le texte intégral (Open Access ou abonnement)

17. Roux AM, Rast JE, Shattuck PT. State-Level Variation in Vocational Rehabilitation Service Use and Related Outcomes Among Transition-Age Youth on the Autism Spectrum. Journal of autism and developmental disorders. 2018.

Employment outcomes for transition-age youth with autism spectrum disorder (TAY-ASD) following Vocational Rehabilitation (VR) services declined between 2002 and 2011 ; although a few states showed significant progress. We examined inter-state variation in VR service use and outcomes among TAY-ASD in 2014-2016, finding significant differences in the percentage of TAY-ASD who received VR services, entered VR services during secondary school, had timely development of an employment plan, and were employed at VR exit. Inter-state differences remained significant after adjusting for the influence of individual-level demographics and state-level unemployment and fiscal capacity, suggesting other factors influence variation. Future research should monitor whether changes in the VR program, via the 2014 Workforce Innovation and Opportunity Act, move the needle on VR outcomes for TAY-ASD.

Lien vers le texte intégral (Open Access ou abonnement)

18. Samadi SA, McConkey R. Perspectives on Inclusive Education of Preschool Children with Autism Spectrum Disorders and Other Developmental Disabilities in Iran. International journal of environmental research and public health. 2018 ; 15(10).

Background : Iranian children with disabilities invariably attend special schools and many may be excluded from education entirely. Information on preschool education is limited but probably mirrors the situation in schools. There is a lack of information in terms of parental preferences for schooling and teachers’ experiences of inclusion in Iran. Method : Two feasibility studies were undertaken ; one with 89 parents of children with autism or intellectual disabilities, and another with the head teachers of two private kindergartens. Results : Two-thirds of parents favored inclusive schools ; most parents whose children had autism or were verbally proficient were in favor of their child attending ordinary schools, even if their child had been placed in a specialist preschool facility. The head teachers justified inclusion in terms of children’s rights but identified three main challenges : coping with the diverse level of functioning, the need for special devices and training of teachers, and challenging the negative reactions of parents of non-disabled children. Conclusions : Further exploration of the views of those who have experienced inclusion would further challenge existing practices. Moreover, the training and preparation of teachers is key to reforming schools. However, wider social values and beliefs towards disabilities also need to change.

Lien vers le texte intégral (Open Access ou abonnement)

19. Sestan N, State MW. Lost in Translation : Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. Neuron. 2018 ; 100(2) : 406-23.

Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD) highlights rare, large-effect, germline, heterozygous de novo coding mutations. This distinguishes nsASD from later-onset psychiatric disorders where gene discovery efforts have predominantly yielded common alleles of small effect. These differences point to distinctive opportunities for clarifying the neurobiology of nsASD and developing novel treatments. We argue that the path ahead also presents key challenges, including distinguishing human pathophysiology from the potentially pleiotropic neurobiology mediated by established risk genes. We present our view of some of the conceptual limitations of traditional studies of model organisms, suggest a strategy focused on investigating the convergence of multiple nsASD genes, and propose that the detailed characterization of the molecular and cellular landscapes of developing human brain is essential to illuminate disease mechanisms. Finally, we address how recent advances are leading to novel strategies for therapeutics that target various points along the path from genes to behavior.

Lien vers le texte intégral (Open Access ou abonnement)

20. Shen J, Lincoln S, Miller DT. Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. Current genetic medicine reports. 2014 ; 2(3) : 124-34.

The prevalence of autism spectrum disorders (ASD) continues to increase. Genetic factors play an important role in the etiology of ASD, although specific genetic causes are identified in only a minority of cases. Recent advances have accelerated the discovery of genes implicated in ASD through convergent genomic analysis of genome-wide association studies, chromosomal microarray, exome sequencing, genome sequencing, and gene networks. Hundreds of candidate genes for ASD have been reported, yet only a handful have proven causative. Symptoms are complex and highly variable, and most cases are likely due to cumulative genetic factors, the interactions among them, as well as environmental factors. Here we summarize recent findings in genomic research regarding discovery of candidate genes, describe the major molecular processes in neural development that may be disrupted in ASD, and discuss the implication of research findings in clinical genetic diagnostic testing and counseling. Continued advances in genetic research will eventually translate into innovative approaches to prevention and treatment of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

21. Tomczak MT, Wojcikowski M, Listewnik P, Pankiewicz B, Majchrowicz D, Jedrzejewska-Szczerska M. Support for Employees with ASD in the Workplace Using a Bluetooth Skin Resistance Sensor(-)A Preliminary Study. Sensors (Basel, Switzerland). 2018 ; 18(10).

The application of a Bluetooth skin resistance sensor in assisting people with Autism Spectrum Disorders (ASD), in their day-to-day work, is presented in this paper. The design and construction of the device are discussed. The authors have considered the best placement of the sensor, on the body, to gain the most accurate readings of user stress levels, under various conditions. Trial tests were performed on a group of sixteen people to verify the correct functioning of the device. Resistance levels were compared to those from the reference system. The placement of the sensor has also been determined, based on wearer convenience. With the Bluetooth Low Energy block, users can be notified immediately about their abnormal stress levels via a smartphone application. This can help people with ASD, and those who work with them, to facilitate stress control and make necessary adjustments to their work environment.

Lien vers le texte intégral (Open Access ou abonnement)

22. Wolff JJ, Dimian AF, Botteron KN, Dager SR, Elison JT, Estes AM, Hazlett HC, Schultz RT, Zwaigenbaum L, Piven J. A longitudinal study of parent-reported sensory responsiveness in toddlers at-risk for autism. Journal of child psychology and psychiatry, and allied disciplines. 2018.

BACKGROUND : Atypical sensory responsivity and sensory interests are now included in the DSM 5 diagnostic criteria for autism spectrum disorder (ASD) under the broad domain of restricted and repetitive behavior (RRB). However, relatively little is known about the emergence of sensory-related features and their relation to conventionally defined RRB in the first years of life. METHODS : Prospective, longitudinal parent-report data using the Sensory Experiences Questionnaire (SEQ) were collected for 331 high-risk toddlers (74 of whom met diagnostic criteria for ASD at age 2) and 135 low-risk controls. Longitudinal profiles for SEQ scores were compared between groups across ages 12-24 months. Associations between SEQ measures and measures of RRB subtypes (based on the Repetitive Behavior Scale, Revised) were also examined. RESULTS : Longitudinal profiles for all SEQ scores significantly differed between groups. SEQ scores were elevated for the ASD group from age 12 months, with differences becoming more pronounced across the 12-24 month interval. At both 12 and 24 months, most measures derived from the SEQ were significantly associated with all subtypes of RRB. CONCLUSIONS : These findings suggest that differences in sensory responsivity may be evident in high-risk infants later diagnosed with ASD in early toddlerhood, and that the magnitude of these differences increases over the second year of life. The high degree of association between SEQ scores and RRB supports the conceptual alignment of these features but also raises questions as to explanatory mechanisms.

Lien vers le texte intégral (Open Access ou abonnement)


Annonces

Accès direct au catalogue en ligne !

Vous pouvez accéder directement au catalogue en ligne du centre de documentation du CRA Rhône-Alpes en cliquant sur l’image ci-dessous :

Cliquez pour consulter le catalogue


Formations pour les Familles et les Proches

le détail des programmes de formation à l’attention des familles et des proches de personnes avec TSA est disponible en cliquant sur l’image ci-dessous.

Formation pour les Aidants Familiaux {JPEG}


Sensibilisation à l’usage des tablettes au CRA !

Toutes les informations concernant les sensibilisations du CRA aux tablettes numériques en cliquant sur l’image ci-dessous :


1-Formation à l’état des connaissances de l’autisme

Plus d’information sur la formation gratuite que dispense le CRA en cliquant sur l’image ci-dessous :

Formation à l'état des connaissances de l'autisme {JPEG}


4-Livret Autisme Rhône-Alpes® (LARA) - Message à l’attention des directeurs

Prenez connaissance du Livret Autisme Rhône-Alpes, projet de répertoire régional des structures médico-sociales. En cliquant sur l’image ci-dessous :

Cliquez sur l'image pour découvrir le Livret LARA