1. Chandler DL. {{Opening New Worlds for Those with Autism: Technology Is Creating Great New Possibilities for Those on Every Part of the Spectrum}}. {IEEE Pulse};2016 (Jul-Aug);7(4):43-46.
In April 2016, in honor of Autism Acceptance Month, Apple released a video that quickly went viral, racking up more than 4 million views in its first few days (https://youtube/oMN2PeFama0). It shows a teenage boy named Dillan whose life has been completely transformed by the use of an iPad. As a nonverbal person, until he learned to use the device, he had no way of showing people that he was aware, thoughtful, paying attention, and eager to communicate. He just didn’t have the necessary control over his body?s vocal apparatus to let people know he was really there. Suddenly, this little piece of 21st-century technology gave him that ability. For him, the technology has been literally life-changing.
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2. Charman T, Young GS, Brian J, Carter A, Carver LJ, Chawarska K, Curtin S, Dobkins K, Elsabbagh M, Georgiades S, Hertz-Picciotto I, Hutman T, Iverson JM, Jones EJ, Landa R, Macari S, Messinger DS, Nelson CA, Ozonoff S, Saulnier C, Stone WL, Tager-Flusberg H, Webb SJ, Yirmiya N, Zwaigenbaum L. {{Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study}}. {Autism Res};2016 (Jul 15)
This study characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We characterized outcomes at age 3 years using a developmental assessment of language and learning and an observational measure of ASD symptoms and, where available, parent interviews about ASD behaviors and adaptive functioning. Around one-in-ten high-risk siblings had mild-to-moderate levels of developmental delay, a rate significantly higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. High-risk siblings were also more likely to have higher levels of observer-rated and parent-reported levels of ASD symptoms and lower adaptive functioning. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. We discuss these findings as evidence for early emerging characteristics related to the « broader autism phenotype » previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not show clear signs of ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes.
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3. Cheak-Zamora NC, Thullen M. {{Disparities in Quality and Access to Care for Children with Developmental Disabilities and Multiple Health Conditions}}. {Matern Child Health J};2016 (Jul 16)
BACKGROUND: The Maternal Child Health Bureau identified six indicators of quality and accessibility essential in achieving coordinated, family-centered, community-based care for children with special healthcare needs (CSHCN). Previous research examined associations between children with single conditions and individual indicators. We sought to identify disparities in meeting quality and accessibility indicators for children with different condition types. METHODS: The 2009-2010 National Survey of CSHCN is a nationally representative cross-sectional study with caregiver’s reports on 40,242 children (0-17 years). Children were categorized into one of seven conditions groups: physical health (PHC), mental health (MHC), developmental disability (DD), physical and mental (PHC and MHC), physical and developmental (PHC and DD), mental and developmental (MHC and DD) and physical, mental and developmental (PHC, MHC, and DD). Unadjusted and adjusted analyses determined associations between condition group and quality and access indicators. RESULTS: Children with DD, alone or in combination with another condition, were significantly less likely to meet each indicator (p < 0.01) after adjusting for individual demographic, child's activity limitations and family-related characteristics. Compared with children with PHC, those with all three conditions (PHC, MHC, and DD) had the lowest odds of access to medical home (61 % decreased odds (DO)), community services (67 % DO), and adequate insurance (26 % DO); MHC and DD had the lowest odds of partnering in decision making (51 % DO); DD had the lowest odds of healthcare transition service (66 % DO). CONCLUSIONS: Children with DD and multiple conditions experience disparities in quality and access to healthcare services, meeting most indictors half as often as other CSHCN. Lien vers le texte intégral (Open Access ou abonnement)
4. D’Agati D, Chang AD, Wachtel LE, Reti IM. {{Treatment of Severe Self-Injurious Behavior in Autism Spectrum Disorder by Neuromodulation}}. {J ECT};2016 (Jul 16)
An increasing number of case reports and series document the safe and effective use of electroconvulsive therapy (ECT) in children, adolescents, and young adults with autism spectrum disorder who engage in severe, intractable, repetitive self-injurious behavior (SIB) without environmental or operant function. Although the treatment is very effective for such patients, they typically remain highly dependent on frequent maintenance ECT (M-ECT) to maintain suppression of the SIB achieved during the acute course. Some patients receive M-ECT as frequently as once every 5 days. Such a regimen is quite burdensome for the patient and the patient’s family, and the long-term effects of such regimens, starting as early as childhood, are unknown. In this review, we explore the expanding literature supporting the use of ECT for suppressing severe SIB associated with autism spectrum disorder. We also focus on the possible development of alternate nonconvulsive focal forms of brain stimulation, which might replace frequent M-ECT or reduce how frequently a patient needs to receive it. Although there are scarce clinical data currently available supporting these latter treatments, future studies are clearly indicated.
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5. David MM, Enard D, Ozturk A, Daniels J, Jung JY, Diaz-Beltran L, Wall DP. {{Comorbid Analysis of Genes Associated with Autism Spectrum Disorders Reveals Differential Evolutionary Constraints}}. {PLoS One};2016;11(7):e0157937.
The burden of comorbidity in Autism Spectrum Disorder (ASD) is substantial. The symptoms of autism overlap with many other human conditions, reflecting common molecular pathologies suggesting that cross-disorder analysis will help prioritize autism gene candidates. Genes in the intersection between autism and related conditions may represent nonspecific indicators of dysregulation while genes unique to autism may play a more causal role. Thorough literature review allowed us to extract 125 ICD-9 codes comorbid to ASD that we mapped to 30 specific human disorders. In the present work, we performed an automated extraction of genes associated with ASD and its comorbid disorders, and found 1031 genes involved in ASD, among which 262 are involved in ASD only, with the remaining 779 involved in ASD and at least one comorbid disorder. A pathway analysis revealed 13 pathways not involved in any other comorbid disorders and therefore unique to ASD, all associated with basal cellular functions. These pathways differ from the pathways associated with both ASD and its comorbid conditions, with the latter being more specific to neural function. To determine whether the sequence of these genes have been subjected to differential evolutionary constraints, we studied long term constraints by looking into Genomic Evolutionary Rate Profiling, and showed that genes involved in several comorbid disorders seem to have undergone more purifying selection than the genes involved in ASD only. This result was corroborated by a higher dN/dS ratio for genes unique to ASD as compare to those that are shared between ASD and its comorbid disorders. Short-term evolutionary constraints showed the same trend as the pN/pS ratio indicates that genes unique to ASD were under significantly less evolutionary constraint than the genes associated with all other disorders.
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6. Dillenburger K, McKerr L, Jordan JA, Keenan M. {{Staff Training in Autism: The One-Eyed Wo/Man}}. {Int J Environ Res Public Health};2016;13(7)
Having well-trained staff is key to ensuring good quality autism services, especially since people affected with autism generally tend to have higher support needs than other populations in terms of daily living, as well as their mental and physical health. Poorly-trained staff can have detrimental effects on service provision and staff morale and can lead to staff burn-out, as well as increased service user anxiety and stress. This paper reports on a survey with health, social care, and education staff who work within the statutory autism services sector in the UK that explored their knowledge and training with regards to autism. Interview data obtained from staff and service users offer qualitative illustrations of survey findings. Overall, the findings expose an acute lack of autism-specific training that has detrimental impacts. At best, this training was based on brief and very basic awareness raising rather than on in-depth understanding of issues related to autism or skills for evidence-based practice. Service users were concerned with the effects that the lack of staff training had on the services they received. The paper concludes with a discussion of policy routes to achieving quality staff training based on international best practice. The focus is on improving the quality of life and mental health for services users and staff, as well as making potentially significant cost-savings for governments.
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7. Dwyer CA, Esko JD. {{Glycan susceptibility factors in autism spectrum disorders}}. {Mol Aspects Med};2016 (Jul 11)
Idiopathic autism spectrum disorders (ASDs) are neurodevelopmental disorders with unknown etiology. An estimated 1:68 children in the U.S. are diagnosed with ASDs, making these disorders a substantial public health issue. Recent advances in genome sequencing have identified numerous genetic variants across the ASD patient population. Many genetic variants identified occur in genes that encode glycosylated extracellular proteins (proteoglycans or glycoproteins) or enzymes involved in glycosylation (glycosyltransferases and sulfotransferases). It remains unknown whether « glycogene » variants cause changes in glycosylation and whether they contribute to the etiology and pathogenesis of ASDs. Insights into glycan susceptibility factors are provided by studies in the normal brain and congenital disorders of glycosylation, which are often accompanied by ASD-like behaviors. The purpose of this review is to present evidence that supports a contribution of extracellular glycans and glycoconjugates to the etiology and pathogenesis of idiopathic ASDs and other types of pervasive neurodevelopmental disorders.
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8. Edmiston EK, Blain SD, Corbett BA. {{Salivary cortisol and behavioral response to social evaluative threat in adolescents with autism spectrum disorder}}. {Autism Res};2016 (Jul 15)
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social behavior. One possible explanation for social communication deficits in ASD could be differences in biological systems that support responses to environmental stimuli. If so, it is unclear if differences in the arousal response to social stimuli in ASD are due to reduced interest in social information, or to an increased stress response. The hypothalamic pituitary adrenal axis facilitates arousal and the stress response to sensory input, including social stimuli. Previous research shows blunted cortisol response to social evaluative threat in children with ASD. The majority of prior work has focused on children with ASD, but adolescents with ASD are understudied. The adolescent period is of interest, as this developmental epoch is associated with increased salience of social evaluative threat in typically developing (TD) populations. In this study, we employed the Trier Social Stress Test (TSST), a laboratory paradigm that involves exposure to social evaluative threat, to study the cortisol and behavioral response to social evaluative threat in ASD and TD adolescents. Salivary cortisol data were collected at six time points before and after the TSST. Behavioral data were collected using video recordings of the TSST, which were then operationalized and coded. Paired sample t-tests were used to calculate within-group cortisol response to the TSST. Cortisol significantly increased in response to the TSST in the TD group but not the ASD group. The TD group showed a trend for more self-soothing behaviors during the stressor than the ASD group. The lack of a cortisol response to the TSST in the ASD group suggests that the TSST is not interpreted as stressful or salient for ASD adolescents. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Lee SM, Kim BK, Kim TW, Ji ES, Choi HH. {{Music application alleviates short-term memory impairments through increasing cell proliferation in the hippocampus of valproic acid-induced autistic rat pups}}. {J Exerc Rehabil};2016 (Jun);12(3):148-155.
Autism is a neurodevelopmental disorder and this disorder shows impairment in reciprocal social interactions, deficits in communication, and restrictive and repetitive patterns of behaviors and interests. The effect of music on short-term memory in the view of cell proliferation in the hippocampus was evaluated using valproic acid-induced autistic rat pups. Animal model of autism was made by subcutaneous injection of 400-mg/kg valproic acid into the rat pups on the postnatal day 14. The rat pups in the music-applied groups were exposed to the 65-dB comfortable classic music for 1 hr once a day, starting postnatal day 15 and continued until postnatal day 28. In the present results, short-term memory was deteriorated by autism induction. The numbers of 5-bromo-2′-deoxyridine (BrdU)-positive, Ki-67-positive, and doublecortin (DCX)-positive cells in the hippocampal dentate gyrus were decreased by autism induction. Brain-derived neurotrophic factor (BDNF) and tyrosine kinase B (TrkB) expressions in the hippocampus were also suppressed in the autistic rat pups. Music application alleviated short-term memory deficits with enhancing the numbers of BrdU-positive, Ki-67-positive, and DCX-positive cells in the autistic rat pups. Music application also enhanced BDNF and TrkB expressions in the autistic rat pups. The present study show that application of music enhanced hippocampal cell proliferation and alleviated short-term memory impairment through stimulating BDNF-TrkB signaling in the autistic rat pups. Music can be suggested as the therapeutic strategy to overcome the autism-induced memory deficits.
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10. Li M, Zhao H, Ananiev GE, Musser M, Ness KH, Maglaque DL, Saha K, Bhattacharyya A, Zhao X. {{Establishment of reporter lines for detecting fragile X mental retardation (FMR1) gene reactivation in human neural cells}}. {Stem Cells};2016 (Jul 16)
Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique opportunities for disease modeling and drug development. However, adapting hiPSCs or their differentiated progenies to high throughput assays for phenotyping or drug screening has been challenging. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic cause of autism. FXS is caused by mutational trinucleotide expansion in the FMR1 gene leading to hypermethylation and gene silencing. One potential therapeutic strategy is to reactivate the silenced FMR1 gene, which has been attempted using both candidate chemicals and cell-based screening. However, molecules that effectively reactivate the silenced FMR1 gene are yet to be identified; therefore, a high throughput unbiased screen is needed. Here we demonstrate the creation of a robust FMR1-Nluc reporter hiPSC line by knocking in a Nano luciferase (Nluc) gene into the endogenous human FMR1 gene using the CRISPR/Cas9 genome editing method. We confirmed that luciferase activities faithfully report FMR1 gene expression levels and showed that neural progenitor cells derived from this line could be optimized for high throughput screening. The FMR1-Nluc reporter line is a good resource for drug screening as well as for testing potential genetic reactivation strategies. In addition, our data provide valuable information for the generation of knock-in human iPSC reporter lines for disease modeling, drug screening, and mechanistic studies. This article is protected by copyright. All rights reserved.
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11. O’Neill LP, Murray LE. {{Perceived Parenting Styles Fail to Mediate Between Anxiety and Attachment Styles in Adult Siblings of Individuals with Developmental Disabilities}}. {J Autism Dev Disord};2016 (Jul 14)
Adult siblings of individuals with developmental disabilities often experience higher levels of anxiety than individuals in the general population. The present study tested whether perceived parenting could mediate the relationship between attachment styles and anxiety in the sibling group compared to a control group. Little association was found between perceived parenting and attachment styles or anxiety for the siblings but there were robust and expected findings for the control. Adult attachment-related-anxiety was a significant unique predictor of anxiety in the sibling group but there was no mediational role for perceived parenting. Conversely, the majority of parenting styles significantly mediated the relationship between attachment and anxiety in the control. Implications for the atypical findings in the sibling group are discussed.
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12. Perera H, Jeewandara KC, Seneviratne S, Guruge C. {{Outcome of Home-Based Early Intervention for Autism in Sri Lanka: Follow-Up of a Cohort and Comparison with a Nonintervention Group}}. {Biomed Res Int};2016;2016:3284087.
This paper presents the outcome of a home-based autism intervention program (HBAIP) in 18- to 40-month-old children newly diagnosed and treatment naive. Intervention was exclusively implemented at home. Outcome was measured at 3 months and 6 months after intervention and compared with a group of newly diagnosed children with autism who were >40 months at intake but had not received any autism specific clinical management. Aim was also to estimate whether natural development would contribute to gain in skills and compare with the effect of intervention. Five selected parameters of behavior representing social interaction and social communication were used to assess outcome. Results showed a statistically significant improvement between preintervention and postintervention in all the measured parameters. The effect size was large when compared to preintervention and gains were indicated by changes in mean scores and p values within a narrow confidence interval. Highest gains were in first 3 months of postintervention which continued up to 6 months. Although the comparison group was more advanced in the measured skills at intake, they were significantly below the level reached by experimental group at 3 months and 6 months after intervention. This study was registered in the Sri Lanka Clinical Trials Registry (SLCTR/2009/011).
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13. Robertson EE, Hall DA, McAsey AR, O’Keefe JA. {{Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders}}. {Clin Neuropsychol};2016 (Aug);30(6):849-900.
OBJECTIVE: The purpose of this paper is to review the typical cognitive and motor impairments seen in fragile X-associated tremor/ataxia syndrome (FXTAS), essential tremor (ET), Parkinson disease (PD), spinocerebellar ataxias (SCAs), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP) in order to enhance diagnosis of FXTAS patients. METHODS: We compared the cognitive and motor phenotypes of FXTAS with each of these other movement disorders. Relevant neuropathological and neuroimaging findings are also reviewed. Finally, we describe the differences in age of onset, disease severity, progression rates, and average lifespan in FXTAS compared to ET, PD, SCAs, MSA, and PSP. We conclude with a flow chart algorithm to guide the clinician in the differential diagnosis of FXTAS. RESULTS: By comparing the cognitive and motor phenotypes of FXTAS with the phenotypes of ET, PD, SCAs, MSA, and PSP we have clarified potential symptom overlap while elucidating factors that make these disorders unique from one another. In summary, the clinician should consider a FXTAS diagnosis and testing for the Fragile X mental retardation 1 (FMR1) gene premutation if a patient over the age of 50 (1) presents with cerebellar ataxia and/or intention tremor with mild parkinsonism, (2) has the middle cerebellar peduncle (MCP) sign, global cerebellar and cerebral atrophy, and/or subcortical white matter lesions on MRI, or (3) has a family history of fragile X related disorders, intellectual disability, autism, premature ovarian failure and has neurological signs consistent with FXTAS. Peripheral neuropathy, executive function deficits, anxiety, or depression are supportive of the diagnosis. CONCLUSIONS: Distinct profiles in the cognitive and motor domains between these movement disorders may guide practitioners in the differential diagnosis process and ultimately lead to better medical management of FXTAS patients.
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14. Sajith SG, Liew SF, Tor PC. {{Response to Electroconvulsive Therapy in Patients With Autism Spectrum Disorder and Intractable Challenging Behaviors Associated With Symptoms of Catatonia}}. {J ECT};2016 (Jul 16)
BACKGROUND: There are several reports of electroconvulsive therapy (ECT) used in autism spectrum disorder (ASD) in the context of catatonic symptoms. We describe response to ECT in two adults with ASD and intellectual disability with intractable aggression and self-injurious behaviors associated with catatonic symptoms who had not responded to standard interventions. METHOD: Unilateral ECT at a frequency of 3 times a week was given followed by weekly maintenance ECT. RESULTS: Patients’ catatonic symptoms included episodes of agitation and echophenomena. Electroconvulsive therapy resulted in significant improvement in their behavior problems but 1 patient relapsed when the ECT was discontinued or frequency of treatment reduced. The second patient required 2 courses of ECT before improvement which was maintained on weekly ECT. CONCLUSIONS: Electroconvulsive therapy could be a potentially beneficial intervention in patients with ASD and severe challenging behaviors associated with catatonic symptoms including agitated or excited forms of catatonia.
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15. Schoorl J, van Rijn S, de Wied M, van Goozen S, Swaab H. {{Emotion Regulation Difficulties in Boys with Oppositional Defiant Disorder/Conduct Disorder and the Relation with Comorbid Autism Traits and Attention Deficit Traits}}. {PLoS One};2016;11(7):e0159323.
Previous research has pointed towards a link between emotion dysregulation and aggressive behavior in children. Emotion regulation difficulties are not specific for children with persistent aggression problems, i.e. oppositional defiant disorder or conduct disorder (ODD/CD), children with other psychiatric conditions, such as autism spectrum disorders or attention-deficit/hyperactivity disorder, have emotion regulation difficulties too. On a behavioral level some overlap exists between these disorders and comorbidity is high. The aim of this study was therefore twofold: 1) to examine emotion regulation difficulties in 65 boys with ODD/CD in comparison to a non-clinical control group (NC) of 38 boys (8-12 years) using a performance measure (Ultimatum Game), parent report and self-report, and 2) to establish to what extent emotion regulation in the ODD/CD group was correlated with severity of autism and/or attention deficit traits. Results on the Ultimatum Game showed that the ODD/CD group rejected more ambiguous offers than the NC group, which is seen as an indication of poor emotion regulation. Parents also reported that the ODD/CD group experienced more emotion regulation problems in daily life than the NC group. In contrast to these cognitive and behavioral measures, self-reports did not reveal any difference, indicating that boys with ODD/CD do not perceive themselves as having impairments in regulating their emotions. Emotional decision making within the ODD/CD group was not related to variation in autism or attention deficit traits. These results support the idea that emotion dysregulation is an important problem within ODD/CD, yet boys with ODD/CD have reduced awareness of this.
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16. Torrico B, Chiocchetti AG, Bacchelli E, Trabetti E, Hervas A, Franke B, Buitelaar JK, Rommelse N, Yousaf A, Duketis E, Freitag CM, Caballero-Andaluz R, Martinez-Mir A, Scholl FG, Ribases M, Battaglia A, Malerba G, Delorme R, Benabou M, Maestrini E, Bourgeron T, Cormand B, Toma C. {{Lack of replication of previous autism spectrum disorder GWAS hits in European populations}}. {Autism Res};2016 (Jul 15)
Common variants contribute significantly to the genetics of autism spectrum disorder (ASD), although the identification of individual risk polymorphisms remains still elusive due to their small effect sizes and limited sample sizes available for association studies. During the last decade several genome-wide association studies (GWAS) have enabled the detection of a few plausible risk variants. The three main studies are family-based and pointed at SEMA5A (rs10513025), MACROD2 (rs4141463) and MSNP1 (rs4307059). In our study we attempted to replicate these GWAS hits using a case-control association study in five European populations of ASD patients and gender-matched controls, all Caucasians. Results showed no association of individual variants with ASD in any of the population groups considered or in the combined European sample. We performed a meta-analysis study across five European populations for rs10513025 (1,904 ASD cases and 2,674 controls), seven European populations for rs4141463 (2,855 ASD cases and 36,177 controls) and five European populations for rs4307059 (2,347 ASD cases and 2,764 controls). The results showed an odds ratio (OR) of 1.05 (95% CI = 0.84-1.32) for rs10513025, 1.0002 (95% CI = 0.93-1.08) for rs4141463 and 1.01 (95% CI = 0.92-1.1) for rs4307059, with no significant P-values (rs10513025, P = 0.73; rs4141463, P = 0.95; rs4307059, P = 0.9). No association was found when we considered either only high functioning autism (HFA), genders separately or only multiplex families. Ongoing GWAS projects with larger ASD cohorts will contribute to clarify the role of common variation in the disorder and will likely identify risk variants of modest effect not detected previously. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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17. Tuttle AH, Bartsch VB, Zylka MJ. {{The Troubled Touch of Autism}}. {Cell};2016 (Jul 14);166(2):273-274.
A study finds that deficits in touch-sensing somatosensory neurons contribute to social interaction and anxiety phenotypes in mouse models of autism and Rett syndrome. These findings suggest that some core symptoms of autism might originate from aberrant development or function of the peripheral nervous system.
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18. Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. {{Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening}}. {Mol Autism};2016;7:34.
[This corrects the article DOI: 10.1186/s13229-016-0090-z.].
