Pubmed du 30/06/19

dimanche 30 juin 2019

1. Arthur T, Vine S, Brosnan M, Buckingham G. Exploring how material cues drive sensorimotor prediction across different levels of autistic-like traits. Exp Brain Res ;2019 (Jun 27)

Recent research proposes that sensorimotor difficulties, such as those experienced by many autistic people, may arise from atypicalities in prediction. Accordingly, we examined the relationship between non-clinical autistic-like traits and sensorimotor prediction in the material-weight illusion, where prior expectations derived from material cues typically bias one’s perception and action. Specifically, prediction-related tendencies in perception of weight, gaze patterns, and lifting actions were probed using a combination of self-report, eye-tracking, motion-capture, and force-based measures. No prediction-related associations between autistic-like traits and sensorimotor control emerged for any of these variables. Follow-up analyses, however, revealed that greater autistic-like traits were correlated with reduced adaptation of gaze with changes in environmental uncertainty. These findings challenge proposals of gross predictive atypicalities in autistic people, but suggest that the dynamic integration of prior information and environmental statistics may be related to autistic-like traits. Further research into this relationship is warranted in autistic populations, to assist the development of future movement-based coaching methods.

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2. Bitar T, Hleihel W, Marouillat S, Vonwill S, Vuillaume ML, Soufia M, Vourc’h P, Laumonnier F, Andres CR. Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders. Mol Genet Genomic Med ;2019 (Jun 29):e786.

BACKGROUND : There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored. METHODS : Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach. RESULTS : Our results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 duplications. Ten CNVs are de novo, 11 are inherited and one of unknown origin of transmission. Among the CNVs detected, novel ASD candidate genes PJA2, SYNPO, APCS, and TAC1 have been identified in our group of Lebanese patients. In addition, previously described CNVs have been identified containing genes such as SHANK3, MBP, CHL1, and others. CONCLUSION : Our study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders.

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3. Carmassi C, Bertelloni CA, Salarpi G, Diadema E, Avella MT, Dell’Oste V, Dell’Osso L. Is There a Major Role for Undetected Autism Spectrum Disorder with Childhood Trauma in a Patient with a Diagnosis of Bipolar Disorder, Self-Injuring, and Multiple Comorbidities ?. Case Rep Psychiatry ;2019 ;2019:4703795.

This case report highlights the relevance of the consequences of trauma in a female patient with an undetected autism spectrum disorder (ASD) affected by bipolar disorder (BD) with multiple comorbidities. A 35-year-old woman with BD type II, binge eating disorder and panic disorder was admitted in the Inpatient Unit of the Psychiatric Clinic of the University of Pisa because of a recrudescence of depressive symptomatology, associated with increase of anxiety, noticeable ruminations, significant alteration in neurovegetative pattern, and serious suicide ideation. During the hospitalization, a diagnosis of ASD emerged besides a history of childhood trauma and affective dysregulation, marked impulsivity, feeling of emptiness, and self-harm behavior. The patient was assessed by the Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale (RAADS-R), the Adult Autism Subthreshold Spectrum (AdAS Spectrum), Trauma and Loss Spectrum (TALS-SR), and Ruminative Response Scale (RRS). Total scores of 38/50 in the AQ, 146/240 in the RAADS-R, 99/160 in the AdAS Spectrum emerged, compatible with ASD, 47/116 in the TALS-SR, and 64/88 in the RRS. We discuss the implications of the trauma she underwent during her childhood, in the sense that caused a complex posttraumatic disorder, a lifelong disease favored and boosted by the rumination tendency of high functioning ASD.

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4. Field C, Lewis C, Allen ML. Referent selection in children with Autism Spectrum Condition and intellectual disabilities : Do social cues affect word-to-object or word-to-location mappings ?. Res Dev Disabil ;2019 (Jun 25) ;91:103425.

BACKGROUND : There is conflicting evidence regarding whether children with Autism Spectrum Condition (ASC) and intellectual disabilities (ID) follow social pragmatic cues such as a speaker’s eye gaze or pointing towards a novel object to assist mapping a new word onto a new object (e.g. fast mapping). AIMS : We test fast mapping from a speaker’s gaze and pointing towards objects in children with ASC and ID with varying chronological and receptive language ages compared with receptive language matched groups of typically developing (TD) children. METHODS AND PROCEDURE : Across eight trials, a speaker gazed and/or pointed towards one out of two objects while saying a new word. Pointing was either ’referential’ (with intention), or ’incidental’ (without obvious intention). To investigate whether children formed more robust word-to-object links rather than associative word-to-location ones, we reversed the original location of the objects in half of the test trials. OUTCOMES AND RESULTS : Children with ASC were as successful as TD children using social cues to form word-to-object mappings. Surprisingly, children with ID did not fast map from referential pointing, or when objects changed location. CONCLUSIONS AND IMPLICATIONS : Children with ID may use different processes to facilitate word learning compared to TD children and even children with ASC.

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5. Frasca A, Bedogni F, Landsberger N. Progress in the development of in vivo redox measurements : new tools for longitudinal studies in Rett syndrome. Neurosci Biobehav Rev ;2019 (Jun 26)

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6. Hadwin JA, Lee E, Kumsta R, Cortese S, Kovshoff H. Cortisol awakening response in children and adolescents with autism spectrum disorder : a systematic review and meta-analysis. Evid Based Ment Health ;2019 (Jun 28)

BACKGROUND : The cortisol awakening response (CAR) is characterised by an increase in cortisol in the 30 to 60 min after waking. Research has found significant associations between an atypical CAR and symptoms of stress and anxiety in typically developing (TD) children and adolescents. A number of studies have explored the CAR in autism spectrum disorder (ASD), but no evidence synthesis is available to date. OBJECTIVE AND METHODS : Based on a preregistered protocol (PROSPERO : CRD42017051187), we carried out a systematic review (SR) and meta-analysis (MA) of CAR studies to explore potential significant differences between children and adolescents with ASD and TD controls. Web of Science, PubMed and PsychInfo were searched until January 2019. A random-effects model was used to pool studies and we used the Newcastle-Ottawa scale (NOS) to assess study quality and risk of bias. FINDINGS : The SR retrieved a total of nine studies, with mixed findings on the comparison of the CAR between children and adolescents with ASD and TD controls. The MA, based on four studies (ASD ; n=117 and TD n=118), suggested no differences between the CAR in ASD and TD populations (SMD : -0.21, 95% CI -0.49 to 0.08). In terms of NOS items, no study specified Representativeness of the cases and Non-response rate. DISCUSSION AND CLINICAL IMPLICATIONS : Given the relatively few studies and lack of appropriately matched TD controls, additional research is needed to further understand and recommend the utility of the CAR as a reliable marker to differentiate ASD and TD.

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7. Hellstrom L. A Systematic Review of Polyvictimization among Children with Attention Deficit Hyperactivity or Autism Spectrum Disorder. Int J Environ Res Public Health ;2019 (Jun 27) ;16(13)

Children with Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) have shown an increased risk for violence and victimization. However, research on exposure to multiple forms of victimization in different contexts are scarce. Hence, the current aim is to review the evidence about polyvictimization among children with ASD or ADHD. PsycInfo, ERIC, ERC, Scopus, and PubMed databases were systematically searched until 12 March 2019 to identify empirical studies with reported prevalence rates of at least four forms of victimization among children with ASD or ADHD. A total of 6/1300 articles were included in the review, ranging in sample sizes from 92 to 4114. The reported prevalence rates for polyvictimization were 1.8% and 23.1% for children with ASD and 7.3% for children with ADHD. The results emphasize the high prevalence of violence and victimization, including polyvictimization, among children with ASD or ADHD. Polyvictimization among children with ASD or ADHD is a highly under researched area. Significant knowledge gaps and important methodological considerations that provide important implications for future research include lack of information on cyber bullying, frequency or intensity of victimization, and the failure to include children as informants and to report health outcomes associated with polyvictimization.

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8. Hughes KR, Hogan AL, Roberts JE, Klusek J. Gesture Frequency and Function in Infants With Fragile X Syndrome and Infant Siblings of Children With Autism Spectrum Disorder. J Speech Lang Hear Res ;2019 (Jun 27):1-14.

Purpose Infant siblings of children with autism spectrum disorder (ASIBs) and infants with fragile X syndrome (FXS) are both at risk for developing autism spectrum disorder (ASD) and communication disorders ; however, very few studies have examined 1 of the earliest forms of intentional communication in infants from these groups : gestures. This study examined the frequency and function of gesture use across 12-month-old infant ASIBs, infants with FXS, and low-risk controls. Method Participants included 23 ASIBs who did not later meet diagnostic criteria for ASD, 18 infants with FXS, and 21 low-risk controls. Gestures were coded from a semistructured play-based interaction. Results Overall, infants with FXS displayed fewer gestures than low-risk infants, whereas ASIBs did not differ from the FXS or low-risk groups in overall gesture frequency. In terms of the communicative function of the gestures used, the FXS and ASIB groups displayed significantly fewer social interaction gestures than the low-risk controls, with large effect sizes. Conclusion This study contributes to scant knowledge of early communication phenotypes of infant ASIBs who do not meet criteria for ASD and infants with FXS. Results indicated that gesture function, not frequency, best discriminated at-risk infants from low-risk infants at 12 months of age. Findings have implications for the clinical evaluation and treatment of infants at high risk for ASD and communication disorders.

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9. McCanlies EC, Ma CC, Gu JK, Fekedulegn D, Sanderson WT, Ludena-Rodriguez YJ, Hertz-Picciotto I. The CHARGE study : an assessment of parental occupational exposures and autism spectrum disorder. Occup Environ Med ;2019 (Jun 27)

OBJECTIVES : The aim of this study is to determine if parental occupational exposure to 16 agents is associated with autism spectrum disorder (ASD). METHODS : Demographic, health and parental occupational data were collected as part of the CHildhood Autism Risks from Genetics and Environment study. The workplace exposure assessment was conducted by two experienced industrial hygienists for the parents of 537 children with ASD and 414 typically developing (TD) children. For each job, frequency and intensity of 16 agents were assessed and both binary and semi-quantitative cumulative exposure variables were derived. Logistic regression models were used to calculate adjusted odds ratios (OR) and 95% confidence intervals (CI) to assess associations between parental occupational exposures 3 months pre-pregnancy until birth. RESULTS : The OR of ASD in the children of mothers exposed to any solvents was 1.5 times higher than the mothers of TD children (95% CI=1.01-2.23). Cumulative exposure indicated that the OR associated with a moderate level of solvent exposure in mothers was 1.85 (95% CI=1.09, 3.15) for children with ASD compared with TD children. No other exposures were associated with ASD in mothers, fathers or the parents combined. CONCLUSION : Maternal occupational exposure to solvents may increase the risk for ASD. These results are consistent with a growing body of evidence indicating that environmental and occupational exposures may be associated with ASD. Future research should consider specific types of solvents, larger samples and/or different study designs to evaluate other exposures for potential associations with ASD.

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10. Palmer M, Tarver J, Paris Perez J, Cawthorne T, Romeo R, Stringer D, Hallett V, Mueller J, Breese L, Hollett M, Beresford B, Knapp M, Slonims V, Pickles A, Simonoff E, Scott S, Charman T. A novel group parenting intervention to reduce emotional and behavioural difficulties in young autistic children : protocol for the Autism Spectrum Treatment and Resilience pilot randomised controlled trial. BMJ Open ;2019 (Jun 27) ;9(6):e029959.

INTRODUCTION : The majority of young autistic children display impairing emotional and behavioural difficulties that contribute to family stress. There is some evidence that behavioural parenting interventions are effective for reducing behavioural difficulties in autistic children, with less evidence assessing change in emotional difficulties. Previous trials have tended to use unblinded parent-report measures as primary outcomes and many do not employ an active control, limiting the conclusions that can be drawn. METHODS AND ANALYSIS : The Autism Spectrum Treatment and Resilience study is a pilot randomised controlled trial (RCT) testing the specific effect of a 12-week group parenting intervention (Predictive Parenting) on primary and secondary outcomes, in comparison to an attention control condition consisting of psychoeducation parent groups. Following a feasibility study to test research procedures and the interventions, the pilot RCT participants include 60 parents of autistic children aged 4-8 years who are randomised to Predictive Parenting versus the attention control. Measures are administered at baseline and post intervention to assess group differences in child and parent outcomes, costs and service use and adverse events. The primary outcome is an objective measure of child behaviours that challenge during interactions with their parent and a researcher. The trial aims to provide data on recruitment, retention, completion of measures and acceptability of the intervention and research protocol, in addition to providing a preliminary indication of potential efficacy and establishing an effect size that could be used to power a larger-scale efficacy trial. We will also provide preliminary estimates of the cost-effectiveness of the interventions. ETHICS AND DISSEMINATION : Ethical approval was granted from NHS Camden and Kings Cross Research Ethics Committee (ref : 16/LO/1769) along with NHS R&D approval from South London and Maudsley, Guy’s and St Thomas’, and Croydon Health Services NHS Trusts. The findings will be disseminated through publication in peer-reviewed journals and presentations at conferences. TRIAL REGISTRATION NUMBER : ISRCTN91411078.

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11. Parellada M. What does the future hold for Asperger syndrome ?. Rev Psiquiatr Salud Ment ;2019 (Jun 24)

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12. Payne KL, Maras K, Russell AJ, Brosnan MJ. Self-reported motivations for offending by autistic sexual offenders. Autism ;2019 (Jun 28):1362361319858860.

Autism spectrum disorder is a neurodevelopmental disorder estimated to have elevated prevalence in forensic populations (approximately 4.5%). It has been suggested that offenders with autism spectrum disorder engage more frequently in crimes against the person and sexual offences than other types of offences such as property, driving and drug offences. To date little is empirically known about the reasons why autistic individuals engage in sexual offences, yet understanding the motivation(s) for offending are key to developing and implementing effective interventions to help reduce both initial offending and also re-offending. In this study, semi-structured interviews were conducted with nine autistic sexual offenders in prisons and probation services across England and Wales. Thematic analyses revealed five main themes (social difficulties, misunderstanding, sex and relationship deficits, inadequate control and disequilibrium). Analyses indicated that social skills difficulties, lack of perspective/weak central coherence, misunderstanding the seriousness of their behaviours and a lack of appropriate relationships were the main reasons for offending reported by this group of autistic sexual offenders. Findings highlight a need to develop sex and relationship education interventions which are tailored to the needs of autistic individuals, to address both their reported reasons for offending and their reported lack of sexual knowledge and awareness.

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13. Pfaff D, Barbas H. Mechanisms for the Approach/Avoidance Decision Applied to Autism. Trends Neurosci ;2019 (Jul) ;42(7):448-457.

As a neurodevelopmental disorder with serious lifelong consequences, autism has received considerable attention from neuroscientists and geneticists. We present a hypothesis of mechanisms plausibly affected during brain development in autism, based on neural pathways that are associated with social behavior and connect the prefrontal cortex (PFC) to the basal ganglia (BG). We consider failure of social approach in autism as a special case of imbalance in the fundamental dichotomy between behavioral approach and avoidance. Differential combinations of genes mutated, differences in the timing of their impact during development, and graded degrees of hormonal influences may help explain the heterogeneity in symptomatology in autism and predominance in boys.

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14. Rangel-Huerta OD, Gomez-Fernandez A, de la Torre-Aguilar MJ, Gil A, Perez-Navero JL, Flores-Rojas K, Martin-Borreguero P, Gil-Campos M. Metabolic profiling in children with autism spectrum disorder with and without mental regression : preliminary results from a cross-sectional case-control study. Metabolomics ;2019 (Jun 27) ;15(7):99.

INTRODUCTION : It is challenging to establish the mechanisms involved in the variety of well-defined clinical phenotypes in autism spectrum disorder (ASD) and the pathways involved in their pathogeneses. OBJECTIVES : The aim of the present study was to evaluate the metabolomic profiles of children with ASD subclassified by mental regression (AR) phenotype and with no regression (ANR). METHODS : The present study was a cross-sectional case-control study. Thirty children aged 2-6 years with ASD were included : 15 with ANR and 15 with AR. In addition, a control group of 30 normally developing children was selected and matched to the ASD group by sex and age. Plasma samples were analyzed with a metabolomics single platform methodology based on liquid chromatography-mass spectrometry. Univariate and multivariate analysis, including orthogonal partial least squares-discriminant analysis modeling and Shared-and-Unique-Structures plots, were performed using MetaboAnalyst 4.0 and SIMCA-P 15. The primary endpoint was the metabolic signature profiling among healthy children and autistic children and their subgroups. RESULTS : Metabolomic profiles of 30 healthy children, 15 ANR and 15 AR were compared. Several differences between healthy children and children with ASD were detected, involving mainly amino acid, lipid and nicotinamide metabolism. Furthermore, we report subtle differences between the ANR and AR groups. CONCLUSIONS : In this study, we report, for the first time, the plasmatic metabolomic profiles of children with ASD, including two different phenotypes based on mental regression status. The use of a liquid chromatography-mass spectrometry platform approach for metabolomics in ASD children using plasma appears to be very efficient and adds further support to previous findings in urine. Furthermore, the present study documents several changes related to amino acid, NAD(+) and lipid metabolism that, in some cases, such as arginine and glutamate pathway alterations, seem to be associated with the AR phenotype. Further targeted analyses are needed in a larger cohort to validate the results presented herein.

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15. Rodgers J, Goodwin J, Parr JR, Grahame V, Wright C, Padget J, Garland D, Osborne M, Labus M, Kernohan A, Freeston M. Coping with Uncertainty in Everyday Situations (CUES(c)) to address intolerance of uncertainty in autistic children : study protocol for an intervention feasibility trial. Trials ;2019 (Jun 27) ;20(1):385.

BACKGROUND : Anxiety is a common diagnosis in children with autism spectrum disorder (ASD). One key mechanism underlying anxiety is intolerance of uncertainty, which is a tendency to react negatively on an emotional, cognitive, and behavioural level to uncertain situations and events. We developed the first intervention programme specifically targeting intolerance of uncertainty in children with ASD : Coping with Uncertainty in Everyday Situations (CUES). CUES is a parent group intervention providing parents of children with ASD with strategies to increase tolerance to uncertainty for their children in everyday situations. The principal aims of the current study are : 1) evaluate the acceptability and feasibility of delivering CUES to parents who have a child with ASD and anxiety ; and 2) inform the design of a fully powered trial. METHOD : This is a feasibility and acceptability single-blind pilot randomised controlled trial comparing CUES (intervention) to a brief psychoeducation, emotional literacy, and relaxation programme (enhanced services as usual). Participants will be assessed at baseline and followed-up immediately post-treatment, and at 12 and 26 weeks post-treatment. Parents who have a child with ASD and anxiety (aged 6-16 years) will be invited to take part in the study and written parental informed consent and child assent will be obtained. Participants will be recruited from the National Health Service mental health teams in the UK. Sixty participants will be randomised to either intervention or enhanced services as usual in a 1:1 ratio. DISCUSSION : The present study will provide evidence on the acceptability of the CUES intervention to parents and children, and the feasibility of recruitment and delivery to inform the design and sample size for a full-scale randomised controlled trial. Qualitative data will be obtained to understand how feasible CUES is for families, and the experiences of participants regarding their experiences of the intervention. TRIAL REGISTRATION : ISRCTN, ISRCTN10139240 . Registered on 14 May 2018.

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16. Rose D, Ashwood P. Rapid Communication : Plasma Interleukin-35 in Children with Autism. Brain Sci ;2019 (Jun 27) ;9(7)

In autism spectrum disorders (ASD) many individuals have co-morbid immune dysregulation that can lead to inflammation in the brain and periphery. The novel cytokine interleukin (IL)-35 has described anti-inflammatory properties ; however, the plasma levels of IL-35 in children with ASD have never been investigated. The plasma levels of IL-35 were measured by an enzyme-linked immunosorbent assay in 30 children with ASD and 39 typically developing (TD) controls. In the current study, we found that plasma IL-35 levels were significantly decreased in children with ASD compared with TD children. Furthermore, lower IL-35 levels were associated with worse behaviors as assessed using the aberrant behavior checklist. These findings are in line with other observations of decreased regulatory cytokines such as transforming growth factor beta and IL-10 in ASD, and associations with severity of behaviors. In conclusion, regulating the expression of IL-35 may provide a new possible target for the treatment of immune issues in ASD to address an imbalance between pro- and anti-inflammatory signals that alter the behavioral phenotype.

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17. Swanson MR, Donovan K, Paterson S, Wolff JJ, Parish-Morris J, Meera SS, Watson LR, Estes AM, Marrus N, Elison JT, Shen MD, McNeilly HB, MacIntyre L, Zwaigenbaum L, St John T, Botteron K, Dager S, Piven J. Early language exposure supports later language skills in infants with and without autism. Autism Res ;2019 (Jun 28)

The way that parents communicate with their typically developing infants is associated with later infant language development. Here we aim to show that these associations are observed in infants subsequently diagnosed with autism spectrum disorder (ASD). This study had three groups : high-familial-risk infants who did not have ASD (n = 46) ; high-familial-risk infants who had ASD (n = 14) ; and low-familial-risk infants who exhibited typical development (n = 36). All-day home language recordings were collected at 9 and 15 months, and language skills were assessed at 24 months. Across all infants in the study, including those with ASD, a richer home language environment (e.g., hearing more adult words and experiencing more conversational turns) at 9 and 15 months was associated with better language skills. Higher parental educational attainment was associated with a richer home language environment. Mediation analyses showed that the effect of education on child language skills was explained by the richness of the home language environment. Exploratory analyses revealed that typically developing infants experience an increase in caregiver-child conversational turns across 9-15 months, a pattern not seen in children with ASD. The current study shows that parent behavior during the earliest stages of life can have a significant impact on later development, highlighting the home language environment as means to support development in infants with ASD. Autism Res 2019, (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : It has long been understood that caregiver speech supports language skills in typically developing infants. In this study, parents of infants who were later diagnosed with ASD and parents of infants in the control groups completed all-day home language recordings. We found that for all infants in our study, those who heard more caregiver speech had better language skills later in life. Parental education level was also related to how much caregiver speech an infant experienced.

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18. Washington P, Kalantarian H, Tariq Q, Schwartz J, Dunlap K, Chrisman B, Varma M, Ning M, Kline A, Stockham N, Paskov K, Voss C, Haber N, Wall DP. Addendum to the Acknowledgements : Validity of Online Screening for Autism : Crowdsourcing Study Comparing Paid and Unpaid Diagnostic Tasks. J Med Internet Res ;2019 (Jun 27) ;21(6):e14950.

[This corrects the article DOI : 10.2196/13668.].

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