Publications by authors named "Mayada Elsabbagh"

100 Publications

Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.

Mol Genet Genomic Med 2021 11 20;9(11):e1803. Epub 2021 Oct 20.

McGill University Health Centre, Montreal, Quebec, Canada.

Background: There is limited empirical data quantifying the utility of genetic testing for families of children with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDD). We assessed the utility of clinical chromosomal microarray analysis (CMA), defined by diagnostic yield and parental empowerment, in population-based sample of parents of affected children; and explored child, family, and health services factors predictive of empowerment.

Methods: Participants were families of children undergoing diagnostic assessments, between 2016 and 2019. Diagnostic yield of CMA in affected children was determined. Parental empowerment was measured through adapted version of the Genetics Counseling Outcome Scale-24. Parents completed questionnaires to capture child, family, and health service factors.

Results: The diagnostic yield of CMA was 2.8% for pathogenic variants. Parental empowerment was significantly correlated with family functioning and aspects of perceived family-centeredness of care. The model accounted for 49.8% of the variation in parental empowerment, F (10,37) = 3.67, p = 0.002. After accounting for other predictors, parental perception of the provision of general information remained significantly associated with empowerment.

Conclusion: The informational needs of families play an important role in their empowerment during genetic testing. Meeting these needs and monitoring empowerment can aid genomic technologies integration in personalized healthcare for ASD/NDD.
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http://dx.doi.org/10.1002/mgg3.1803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606197PMC
November 2021

: A novel method to access first-person perspective of autistic youth.

Autism 2021 Sep 4:13623613211042128. Epub 2021 Sep 4.

McGill University, Canada.

Lay Abstract: The perspective of autistic individuals is often left uncaptured, and as a result they are often excluded from making decisions that impact them. Conventional communication can be challenging for many autistic individuals, especially those who are minimally verbal or who have an associated intellectual disability. Currently, a lack of appropriate methods to capture voices across the spectrum is a barrier. In the present study, we developed the protocol using universal design principles to capture the perspectives and experiences of autistic youth with a range of language or intellectual abilities. This protocol was then used with 33 autistic youth aged 11 to 18 years. A scoring rubric was developed to capture the unconventional communication used by the participants and the mitigation strategies used by interviewers to facilitate the interview. Many components of the protocol were found to effectively facilitate communication between the participant and interviewer, including the use of picture cards to support verbal questions/prompts, the fact that participants could respond with their preferred communication methods (writing, texting, pointing), and the fact that interviews were applied flexibly to adapt to each participant. Unconventional communication and mitigation strategies were mostly observed in interviews with minimally verbal individuals, but a fine-grained analysis showed participants were still communicating something through this unconventional communication. Our protocol could help promote the inclusion of more autistic individuals in research and showed that unconventional modes of communication like echolalia provide an understanding that participants' are invested in conversations and certain topics are more meaningful than others.
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http://dx.doi.org/10.1177/13623613211042128DOI Listing
September 2021

Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.

J Pers Med 2021 Jul 30;11(8). Epub 2021 Jul 30.

McGill University Health Centre, McGill University, Montreal, QC H3A 0G4, Canada.

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series ( = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.
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http://dx.doi.org/10.3390/jpm11080755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8400173PMC
July 2021

Ethical dimensions of translational developmental neuroscience research in autism.

J Child Psychol Psychiatry 2021 11 18;62(11):1363-1373. Epub 2021 Aug 18.

Department of Psychiatry and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UK.

Background: Since the 1990s, increasing research has been devoted to the identification of biomarkers for autism to help attain more objective diagnosis; enable early prediction of prognosis; and guide individualized intervention options. Early studies focused on the identification of genetic variants associated with autism, but more recently, research has expanded to investigate neurodevelopmental markers. While ethicists have extensively discussed issues around advances in autism genomics, much less ethical scrutiny has focused on research on early neurodevelopment and on the interventions being developed as a result.

Objectives: We summarize the current state of the science on the identification of early markers for autism and its potential clinical applications, before providing an overview of the ethical issues arising from increasing understanding of children's neurodevelopment in very early life.

Results: Advances in the understanding of brain and behavioral trajectories preceding later autism diagnosis raise ethical concerns around three themes: (a) New models for understanding autism; (b) Risks and benefits of early identification and intervention; and (c) Communication of early concerns to families. These ethical issues should be further investigated in research conducted in partnership with autistic people and their families.

Conclusions: This paper highlights the need for ethical scrutiny of early neurodevelopmental research in autism. Scrutiny requires expertise and methods from the basic sciences and bioethics, as well as constructive collaborations among autistic people, their parents, and autism researchers to anticipate early interventions that serve the community's interests and accommodate the varied experiences and preferences of people on the spectrum and their families.
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http://dx.doi.org/10.1111/jcpp.13494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611913PMC
November 2021

Middle-childhood executive functioning mediates associations between early-childhood autism symptoms and adolescent mental health, academic and functional outcomes in autistic children.

J Child Psychol Psychiatry 2021 Aug 12. Epub 2021 Aug 12.

Cundill Centre for Child and Youth Depression, Margaret and Wallace McCain Centre for Child, Youth & Family Mental Health, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Background: Executive functioning (EF) varies in children with autism spectrum disorder (ASD) and is associated with clinical symptoms, academic, and adaptive functioning. Here, we examined whether middle-childhood EF mediates associations between early-childhood autism symptoms and adolescent outcomes in children with ASD.

Methods: The Pathways in ASD Cohort comprising children recruited at the time of ASD diagnosis (at 2-4 years-of-age) and followed prospectively across eight subsequent timepoints over ˜10 years was used. A subset of Pathways participants (n = 250) with Behavior Rating Inventory of Executive Function (BRIEF)-Parent Form data from at least one timepoint when participants were school-aged was analyzed. A mediation framework was used to examine whether BRIEF-measured EF across age 7-10 years (middle-childhood) mediated associations between early-childhood autism symptoms (measured using the parent-report Social Responsiveness Scale across age 2-6 years) and clinical, academic, and functional outcomes, indexed at age >10-11.8 years (early-adolescence) using the Child Behavior Checklist (CBCL)-Internalizing and Externalizing Scales, Academic Performance from the Teacher's Report Form, and Vineland Adaptive Behavior Scales. Models were rerun substituting clinician-rated and teacher-rated measures, where possible.

Results: Mediation models indicated a significant indirect effect of middle-childhood EF on associations between early-childhood autism symptoms and externalizing behavior, academic performance, or adaptive functioning in early adolescence; kappa squared (κ ) effect sizes ranged from large to small. Model findings were stable across raters. Middle-childhood EF did not mediate associations between early-childhood autism symptoms and adolescent internalizing behavior.

Conclusions: Among children with an ASD diagnosis, middle-childhood EF may be one pathway through which early-childhood autism symptoms influence a variety of outcomes in early-adolescence. An experimental study targeting middle-childhood EF to improve adolescent academic, emotional/behavioral, and adaptive functioning is needed to evaluate the clinical meaningfulness of these findings.
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http://dx.doi.org/10.1111/jcpp.13493DOI Listing
August 2021

Investigating longitudinal associations between parent reported sleep in early childhood and teacher reported executive functioning in school-aged children with autism.

Sleep 2021 09;44(9)

Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montreal, Canada.

Up to 80% of children with autism spectrum disorder (ASD) experience sleep disturbance. Poor sleep impairs executive functioning (EF), a lifelong difficulty in ASD. Evidence suggests EF difficulties in ASD are exacerbated by poor sleep. We examine whether early childhood sleep disturbances are associated with worsening EF trajectories in school-aged children with ASD. A subsample (n = 217) from the Pathways in ASD longitudinal study was analyzed. The Children's Sleep Habits Questionnaire captured sleep duration, onset, and night awakenings before age 5 (mean = 3.5 years). Metacognition (MI) and Behavioral Regulation (BRI) indices, on the Teacher Behavior Rating Inventory of Executive Functioning, were used to measure cognitive and affective components of EF respectively at four time-points (7.8-11.8 years). We applied latent growth curve models to examine associations between sleep and EF, accounting for relevant covariates, including school-age sleep (mean = 6.7 years). Sleep traits had different age-related impacts on behavioral regulation, but not metacognition. Longer sleep onset at 3.5 years was associated with a worsening BRI difficulties slope (b = 2.07, p < 0.04), but conversely associated with lower BRI difficulties at 7.7 years (b = -4.14, p = 0.04). A longer sleep onset at 6.7 years was related to higher BRI difficulties at 7.7 years (b = 7.78, p < 0.01). Longer sleep duration at 6.7 years was associated with higher BRI difficulties at age 7.7 (b = 3.15, p = 0.01), but subscale analyses revealed shorter sleep duration at age 6.7 was linked to a worsening inhibition slope (b = -0.60, p = 0.01). Sleep onset is a robust early correlate of behavior regulation in children with ASD, whereas sleep duration is a later childhood correlate.
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http://dx.doi.org/10.1093/sleep/zsab122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522468PMC
September 2021

Correction: Attentive brain states in infants with and without later autism.

Transl Psychiatry 2021 May 10;11(1):277. Epub 2021 May 10.

Centre for Brain and Cognitive Development, Birkbeck College, University of London, Malet Street, London, WC1E 7HX, UK.

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http://dx.doi.org/10.1038/s41398-021-01368-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110568PMC
May 2021

Association between spectral electroencephalography power and autism risk and diagnosis in early development.

Autism Res 2021 07 6;14(7):1390-1403. Epub 2021 May 6.

Montreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montréal, Canada.

Autism spectrum disorder (ASD) has its origins in the atypical development of brain networks. Infants who are at high familial risk for, and later diagnosed with ASD, show atypical activity in multiple electroencephalography (EEG) oscillatory measures. However, infant-sibling studies are often constrained by small sample sizes. We used the International Infant EEG Data Integration Platform, a multi-site dataset with 432 participants, including 222 at high-risk for ASD, from whom repeated measurements of EEG were collected between the ages of 3-36 months. We applied a latent growth curve model to test whether familial risk status predicts developmental trajectories of spectral power across the first 3 years of life, and whether these trajectories predict ASD outcome. Change in spectral EEG power in all frequency bands occurred during the first 3 years of life. Familial risk, but not a later diagnosis of ASD, was associated with reduced power at 3 months, and a steeper developmental change between 3 and 36 months in nearly all absolute power bands. ASD outcome was not associated with absolute power intercept or slope. No associations were found between risk or outcome and relative power. This study applied an analytic approach not used in previous prospective biomarker studies of ASD, which was modeled to reflect the temporal relationship between genetic susceptibility, brain development, and ASD diagnosis. Trajectories of spectral power appear to be predicted by familial risk; however, spectral power does not predict diagnostic outcome above and beyond familial risk status. Discrepancies between current results and previous studies are discussed. LAY SUMMARY: Infants with an older sibling who is diagnosed with ASD are at increased risk of developing ASD themselves. This article tested whether EEG spectral power in the first year of life can predict whether these infants did or did not develop ASD.
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http://dx.doi.org/10.1002/aur.2518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360065PMC
July 2021

Annual Research Review: Achieving universal health coverage for young children with autism spectrum disorder in low- and middle-income countries: a review of reviews.

J Child Psychol Psychiatry 2021 05;62(5):514-535

Child and Adolescent Psychiatry, University of Manchester and Manchester Academic Health Sciences Centre, Manchester, UK.

Background: Autism presents with similar prevalence and core impairments in diverse populations. We conducted a scoping review of reviews to determine key barriers and innovative strategies which can contribute to attaining universal health coverage (UHC), from early detection to effective interventions for autism in low- and middle-income countries (LAMIC).

Methods: A systematic literature search of review articles was conducted. Reviews relevant to the study research question were included if they incorporated papers from LAMIC and focused on children (
Results: We identified 31 articles which reviewed data from over fifty countries across Africa, Latin America, Middle East, and Asia and addressed barriers across one or more of four inter-related domains: (a) the social context and family experience for a child with autism; (b) barriers to detection and diagnosis; (c) access to appropriate evidence-based intervention; and (d) social policy and legislation. Key barriers identified included: lack of appropriate tools for detection and diagnosis; low awareness and experienced stigma impacting demand for autism care; and the prevalence of specialist models for diagnosis and treatment which are not scalable in LAMIC.

Conclusions: We present a Theory of Change model which describe the strategies and resources needed to realize UHC for children with autism in LAMIC. We highlight the importance of harnessing existing evidence to best effect, using task sharing and adapted intervention strategies, community participation, and technology innovation. Scaling up these innovations will require open access to appropriate detection and intervention tools, systematic approaches to building and sustaining skills in frontline providers to support detection and deliver interventions embedded within a stepped care architecture, and community awareness of child development milestones.
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http://dx.doi.org/10.1111/jcpp.13404DOI Listing
May 2021

Use of Empirical Mode Decomposition in ERP Analysis to Classify Familial Risk and Diagnostic Outcomes for Autism Spectrum Disorder.

Brain Sci 2021 Mar 24;11(4). Epub 2021 Mar 24.

Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.

Event-related potentials (ERPs) activated by faces and gaze processing are found in individuals with autism spectrum disorder (ASD) in the early stages of their development and may serve as a putative biomarker to supplement behavioral diagnosis. We present a novel approach to the classification of visual ERPs collected from 6-month-old infants using intrinsic mode functions (IMFs) derived from empirical mode decomposition (EMD). Selected features were used as inputs to two machine learning methods (support vector machines and -nearest neighbors (-NN)) using nested cross validation. Different runs were executed for the modelling and classification of the participants in the control and high-risk (HR) groups and the classification of diagnosis outcome within the high-risk group: HR-ASD and HR-noASD. The highest accuracy in the classification of familial risk was 88.44%, achieved using a support vector machine (SVM). A maximum accuracy of 74.00% for classifying infants at risk who go on to develop ASD vs. those who do not was achieved through -NN. IMF-based extracted features were highly effective in classifying infants by risk status, but less effective by diagnostic outcome. Advanced signal analysis of ERPs integrated with machine learning may be considered a first step toward the development of an early biomarker for ASD.
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http://dx.doi.org/10.3390/brainsci11040409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063929PMC
March 2021

Attentive brain states in infants with and without later autism.

Transl Psychiatry 2021 03 30;11(1):196. Epub 2021 Mar 30.

Centre for Brain and Cognitive Development, Birkbeck College, University of London, Malet Street, London, WC1E 7HX, UK.

Early difficulties in engaging attentive brain states in social settings could affect learning and have cascading effects on social development. We investigated this possibility using multichannel electroencephalography during a face/non-face paradigm in 8-month-old infants with (FH, n = 91) and without (noFH, n = 40) a family history of autism spectrum disorder (ASD). An event-related potential component reflecting attention engagement, the Nc, was compared between FH infants who received a diagnosis of ASD at 3 years of age (FH-ASD; n = 19), FH infants who did not (FH-noASD; n = 72) and noFH infants (who also did not, hereafter noFH-noASD; n = 40). 'Prototypical' microstates during social attention were extracted from the noFH-noASD group and examined in relation to later categorical and dimensional outcome. Machine-learning was used to identify the microstate features that best predicted ASD and social adaptive skills at three years. Results suggested that whilst measures of brain state timing were related to categorical ASD outcome, brain state strength was related to dimensional measures of social functioning. Specifically, the FH-ASD group showed shorter Nc latency relative to other groups, and duration of the attentive microstate responses to faces was informative for categorical outcome prediction. Reduced Nc amplitude difference between faces with direct gaze and a non-social control stimulus and strength of the attentive microstate to faces contributed to the prediction of dimensional variation in social skills. Taken together, this provides consistent evidence that atypical attention engagement precedes the emergence of difficulties in socialization and indicates that using the spatio-temporal characteristics of whole-brain activation to define brain states in infancy provides an important new approach to understanding of the neurodevelopmental mechanisms that lead to ASD.
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http://dx.doi.org/10.1038/s41398-021-01315-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009890PMC
March 2021

Association of Child and Family Attributes With Outcomes in Children With Autism.

JAMA Netw Open 2021 03 1;4(3):e212530. Epub 2021 Mar 1.

University of Alberta, Edmonton, Alberta, Canada.

Importance: The prevalence and attributes of positive outcomes (or doing well) among children with autism spectrum disorder (ASD) in midchildhood are not well known.

Objective: To estimate the prevalence of doing well according to metrics of proficiency and growth and to investigate the extent to which significant associations exist between child- and family-level variables and doing well.

Design, Setting, And Participants: This longitudinal cohort study included children with ASD from regional clinics across Canada. Participants were sampled 3 times between ages 2 and 4.9 years (T1) and twice in follow-up into middle childhood (T2). Data were analyzed March 2018 through January 2020.

Exposures: Language and IQ assessments at first sample; household income, parent coping, and family functioning.

Main Outcomes And Measures: Key outcome domains of developmental health included measures of socialization, communication, independent living skills, and measures of internalizing and externalizing behaviors. Thresholds for doing well in these domains by either proficiency or growth were established. The extent to which language, IQ, household income, parent coping, and family functioning were associated with assessed outcomes was determined by logistic regression. The association between outcomes and concurrent Autism Diagnostic Observation Schedule (ADOS) classification scores was also estimated.

Results: In a total cohort of 272 children (234 [86.0%] boys; mean [SD] age, 10.76 [0.26] years), approximately 78.8% (95% CI, 73.2%-84.4%) of the sample were estimated to be doing well by either metric on at least 1 domain, and 23.6% (95% CI, 17.7%-29.4%) were doing well in 4 or 5 domains. It was possible to be doing well by either proficiency or growth and still meet ADOS criteria for ASD. For the growth metric, between 61.5% (95% CI, 40.7%-79.1%) and 79.6% (95% CI, 66.0%-88.9%) of participants had ADOS scores of 4 or greater; for the proficiency metric, between 63.8% (95% CI, 48.4%-76.9%) and 75.8% (95% CI, 63.0%-85.4%) had scores of 4 or greater. Doing well by either metric for all domains was associated with T1 scores on that outcome domain (eg, T1 daily living skills associated with doing well at T2 daily living by the proficiency metric as measured by the Vineland Adaptive Behavior Scales-Second Edition daily living skills scale [202 participants]: β = 0.07; OR, 1.07; 95% CI, 1.03-1.11; P < .001). Doing well in socialization by the growth metric was also associated with better T1 language skills scores (202 participants) (β = 0.04; OR, 1.04; 95% CI, 1.00-1.07, P = .04). Doing well in externalizing by the growth metric was also associated with higher household income at T1 (178 participants) (β = 0.10; OR, 1.10; 95% CI, 1.06-1.15; P < .001). Better family functioning at T1 was associated with doing well on both socialization and externalizing by proficiency metric and on internalizing by growth metric (socialization by proficiency [202 participants]: β = -1.01; OR, 0.36; 95% CI, 0.14-0.93; P = .04; externalizing by proficiency [178 participants]: β = 1.00; OR, 0.37; 95% CI, 0.16-0.82; P = .02; internalizing by growth [178 participants]: β = -1.03; OR, 0.36; 95% CI, 0.16-0.79; P = .01).

Conclusions And Relevance: This cohort study found that a substantial proportion of children with ASD were doing well by middle childhood in at least 1 key domain of developmental health, and that doing well was possible even in the context of continuing to meet criteria for ASD. These results support a strengths-based approach to treatment planning that should include robust support for families to increase the potential likelihood of doing well later in life.
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http://dx.doi.org/10.1001/jamanetworkopen.2021.2530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008283PMC
March 2021

12-Month peak alpha frequency is a correlate but not a longitudinal predictor of non-verbal cognitive abilities in infants at low and high risk for autism spectrum disorder.

Dev Cogn Neurosci 2021 04 3;48:100938. Epub 2021 Mar 3.

Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montréal, Canada.

Although studies of PAF in individuals with autism spectrum disorder (ASD) report group differences and associations with non-verbal cognitive ability, it is not known how PAF relates to familial risk for ASD, and whether similar associations with cognition in are present in infancy. Using a large multi-site prospective longitudinal dataset of infants with low and high familial risk for ASD, metrics of PAF at 12 months were extracted and growth curves estimated for cognitive development between 12-36 months. Analyses tested whether PAF 1) differs between low and high risk infants, 2) is associated with concurrent non-verbal/verbal cognitive ability and 3) predicts developmental change in non-verbal/verbal ability. Moderation of associations between PAF and cognitive ability by familial risk status was also tested. No differences in 12-month PAF were found between low and high risk infants. PAF was associated with concurrent non-verbal cognitive ability, but did not predict change in non-verbal cognitive over development. No associations were found between PAF and verbal ability, along with no evidence of moderation. PAF is not related to familial risk for ASD, and is a neural marker of concurrent non-verbal cognitive ability, but not verbal ability, in young infants at low and high risk for ASD.
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http://dx.doi.org/10.1016/j.dcn.2021.100938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7966984PMC
April 2021

Trajectories of Symptom Severity in Children with Autism: Variability and Turning Points through the Transition to School.

J Autism Dev Disord 2022 Jan 11;52(1):392-401. Epub 2021 Mar 11.

Centre for Addition and Mental Health, Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Canada.

This study examined the trajectories of autistic symptom severity in an inception cohort of 187 children with ASD assessed across four time points from diagnosis to age 10. Trajectory groups were derived using multivariate cluster analysis. A two trajectory/cluster solution was selected. Change in trajectory slopes revealed a turning point marked by plateauing in symptom reduction during the period of transition to school (age 6) for one of the two trajectories. Trajectories were labelled: Continuously Improving (27%) and Improving then Plateauing (73% of sample). Children in the two trajectories differed in levels of symptom severity, language, cognitive, and adaptive functioning skills. Study findings can inform the development of more personalized services for children with ASD transitioning into the school system.
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http://dx.doi.org/10.1007/s10803-021-04949-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8732828PMC
January 2022

"Best Things": Parents Describe Their Children with Autism Spectrum Disorder Over Time.

J Autism Dev Disord 2021 Dec 2;51(12):4560-4574. Epub 2021 Feb 2.

University of Ottawa, Ottawa, ON, Canada.

This study examined parental perceptions of the character traits of children with autism from early childhood to age 11. Parents (n = 153) provided descriptions of the "best things" about their children on the Child Behavior Checklist (CBCL) at ages 3-4, 7-8, and 10-11 years. Descriptions were coded using the framework of the Values in Action Classification of Strengths, with additional traits added as needed. Parent-endorsed traits included love, kindness, happiness, and humor in children across all ages and traits such as perseverance as children entered school. Higher CBCL scores were associated with a lower likelihood of endorsement for Humanity traits. Results are congruent with a contemporary neurodiversity perspective that emphasizes strengths and resilience.
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http://dx.doi.org/10.1007/s10803-021-04890-4DOI Listing
December 2021

Structural templates for imaging EEG cortical sources in infants.

Neuroimage 2021 02 29;227:117682. Epub 2020 Dec 29.

Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, 3775 Rue University, Room C18, Duff Medical Building, Montreal, Québec H3A 2B4, Canada.

Electroencephalographic (EEG) source reconstruction is a powerful approach that allows anatomical localization of electrophysiological brain activity. Algorithms used to estimate cortical sources require an anatomical model of the head and the brain, generally reconstructed using magnetic resonance imaging (MRI). When such scans are unavailable, a population average can be used for adults, but no average surface template is available for cortical source imaging in infants. To address this issue, we introduce a new series of 13 anatomical models for subjects between zero and 24 months of age. These templates are built from MRI averages and boundary element method (BEM) segmentation of head tissues available as part of the Neurodevelopmental MRI Database. Surfaces separating the pia mater, the gray matter, and the white matter were estimated using the Infant FreeSurfer pipeline. The surface of the skin as well as the outer and inner skull surfaces were extracted using a cube marching algorithm followed by Laplacian smoothing and mesh decimation. We post-processed these meshes to correct topological errors and ensure watertight meshes. Source reconstruction with these templates is demonstrated and validated using 100 high-density EEG recordings from 7-month-old infants. Hopefully, these templates will support future studies on EEG-based neuroimaging and functional connectivity in healthy infants as well as in clinical pediatric populations.
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http://dx.doi.org/10.1016/j.neuroimage.2020.117682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901726PMC
February 2021

Intracranial recordings reveal ubiquitous in-phase and in-antiphase functional connectivity between homotopic brain regions in humans.

J Neurosci Res 2021 03 15;99(3):887-897. Epub 2020 Nov 15.

Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.

Whether neuronal populations exhibit zero-lag (in-phase or in-antiphase) functional connectivity is a fundamental question when conceptualizing communication between cell assemblies. It also has profound implications on how we assess such interactions. Given that the brain is a delayed network due to the finite conduction velocity of the electrical impulses traveling across its fibers, the existence of long-distance zero-lag functional connectivity may be considered improbable. However, in this study, using human intracranial recordings we demonstrate that most interhemispheric connectivity between homotopic cerebral regions is zero-lagged and that this type of connectivity is ubiquitous. Volume conduction can be safely discarded as a confounding factor since it is known to drop almost completely within short interelectrode distances (<20 mm) in intracranial recordings. This finding should guide future electrophysiological connectivity studies and highlight the importance of considering the role of zero-lag connectivity in our understanding of communication between cell assemblies.
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http://dx.doi.org/10.1002/jnr.24748DOI Listing
March 2021

EEG Integrated Platform Lossless (EEG-IP-L) pre-processing pipeline for objective signal quality assessment incorporating data annotation and blind source separation.

J Neurosci Methods 2021 01 8;347:108961. Epub 2020 Oct 8.

Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montréal, Canada; Douglas Mental Health University Institute, Verdun, Canada. Electronic address:

Background: The methods available for pre-processing EEG data are rapidly evolving as researchers gain access to vast computational resources; however, the field currently lacks a set of standardized approaches for data characterization, efficient interactive quality control review procedures, and large-scale automated processing that is compatible with High Performance Computing (HPC) resources.

New Method: In this paper we describe an infrastructure for the development of standardized procedures for semi and fully automated pre-processing of EEG data. Our pipeline incorporates several methods to isolate cortical signal from noise, maintain maximal information from raw recordings and provide comprehensive quality control and data visualization. In addition, batch processing procedures are integrated to scale up analyses for processing hundreds or thousands of data sets using HPC clusters.

Results: We demonstrate here that by using the EEG Integrated Platform Lossless (EEG-IP-L) pipeline's signal quality annotations, significant increase in data retention is achieved when applying subsequent post-processing ERP segment rejection procedures. Further, we demonstrate that the increase in data retention does not attenuate the ERP signal.

Conclusions: The EEG-IP-L state provides the infrastructure for an integrated platform that includes long-term data storage, minimal data manipulation and maximal signal retention, and flexibility in post processing strategies.
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http://dx.doi.org/10.1016/j.jneumeth.2020.108961DOI Listing
January 2021

Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.

Am J Psychiatry 2021 01 11;178(1):87-98. Epub 2020 Sep 11.

Université de Montréal, Montreal (Douard, Zeribi, Schramm, Tamer, Loum, Nowak, Lord, Moreau, Huguet, Jacquemont); UHC Sainte-Justine Research Center, Montreal (Douard, Zeribi, Schramm, Tamer, Loum, Nowak, Saci, Lord, Rodríguez-Herreros, Jean-Louis, Moreau, Huguet, Jacquemont); Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal (Schramm, Greenwood); Sensory-Motor Laboratory, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland (Rodríguez-Herreros); Department of Forensic and Neurodevelopmental Sciences (Loth) and Center for Population Neuroscience and Stratified Medicine (Schumann), Institute of Psychiatry, Psychology, and Neuroscience, King's College London; Hospital for Sick Children and Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto (Pausova); Departments of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal (Elsabbagh); Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, and Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia (Almasy); Department of Psychiatry, Boston Children's Hospital and Harvard Medical School, Boston (Glahn); Human Genetics and Cognitive Functions, Institut Pasteur, Université de Paris, Paris (Bourgeron); Département de Sciences de la Décision, HEC Montreal, Montreal (Labbe); Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto (Paus); Departments of Psychology and Psychiatry, University of Toronto, Toronto (Paus); Centre de Recherche de CIUSSS-NIM, Montreal (Mottron); Département de Psychiatrie, Université de Montréal, Montreal (Mottron); Department of Epidemiology, Biostatistics, and Occupational Health, Gerald Bronfman Department of Oncology, and Department of Human Genetics, McGill University, Montreal (Greenwood).

Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. The authors recently developed statistical models to estimate the effect size on IQ of all CNVs, including undocumented ones. In this study, the authors extended this model to autism susceptibility.

Methods: The authors identified CNVs in two autism populations (Simons Simplex Collection and MSSNG) and two unselected populations (IMAGEN and Saguenay Youth Study). Statistical models were used to test nine quantitative variables associated with genes encompassed in CNVs to explain their effects on IQ, autism susceptibility, and behavioral domains.

Results: The "probability of being loss-of-function intolerant" (pLI) best explains the effect of CNVs on IQ and autism risk. Deleting 1 point of pLI decreases IQ by 2.6 points in autism and unselected populations. The effect of duplications on IQ is threefold smaller. Autism susceptibility increases when deleting or duplicating any point of pLI. This is true for individuals with high or low IQ and after removing de novo and known recurrent neuropsychiatric CNVs. When CNV effects on IQ are accounted for, autism susceptibility remains mostly unchanged for duplications but decreases for deletions. Model estimates for autism risk overlap with previously published observations. Deletions and duplications differentially affect social communication, behavior, and phonological memory, whereas both equally affect motor skills.

Conclusions: Autism risk conferred by duplications is less influenced by IQ compared with deletions. The model applied in this study, trained on CNVs encompassing >4,500 genes, suggests highly polygenic properties of gene dosage with respect to autism risk and IQ loss. These models will help to interpret CNVs identified in the clinic.
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http://dx.doi.org/10.1176/appi.ajp.2020.19080834DOI Listing
January 2021

Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.

J Genet Couns 2021 02 6;30(1):305-318. Epub 2020 Sep 6.

Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, QC, Canada.

The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway. The Genetic Counseling Outcome Scale (GCOS-24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS-24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child's developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS-24 (modified GCOS-24), adapted from the original GCOS-24 by clinicians working in the target population's routine care pathway. The mGCOS-24 has acceptable internal consistency (Cronbach's α = 0.84) and high test-retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS-10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps < 0.001. The mGCOS-24 had adequate readability, as supported by cognitive interviews completed by a sub-sample of five mothers of a child with ASD. Together, our findings show that the mGCOS-24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre-test counseling and limited post-test counseling. The use of the mGCOS-24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.
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http://dx.doi.org/10.1002/jgc4.1323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891368PMC
February 2021

Genome-wide detection of tandem DNA repeats that are expanded in autism.

Nature 2020 10 27;586(7827):80-86. Epub 2020 Jul 27.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic disorders. Their involvement in disorders with complex genetics is largely unknown, as is the extent of their heterogeneity. Here we investigated the genome-wide characteristics of tandem repeats that had motifs with a length of 2-20 base pairs in 17,231 genomes of families containing individuals with autism spectrum disorder (ASD) and population control individuals. We found extensive polymorphism in the size and sequence of motifs. Many of the tandem repeat loci that we detected correlated with cytogenetic fragile sites. At 2,588 loci, gene-associated expansions of tandem repeats that were rare among population control individuals were significantly more prevalent among individuals with ASD than their siblings without ASD, particularly in exons and near splice junctions, and in genes related to the development of the nervous system and cardiovascular system or muscle. Rare tandem repeat expansions had a prevalence of 23.3% in children with ASD compared with 20.7% in children without ASD, which suggests that tandem repeat expansions make a collective contribution to the risk of ASD of 2.6%. These rare tandem repeat expansions included previously undescribed ASD-linked expansions in DMPK and FXN, which are associated with neuromuscular conditions, and in previously unknown loci such as FGF14 and CACNB1. Rare tandem repeat expansions were associated with lower IQ and adaptive ability. Our results show that tandem DNA repeat expansions contribute strongly to the genetic aetiology and phenotypic complexity of ASD.
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http://dx.doi.org/10.1038/s41586-020-2579-zDOI Listing
October 2020

Co-occurring trajectories of anxiety and insistence on sameness behaviour in autism spectrum disorder.

Br J Psychiatry 2021 01;218(1):20-27

Centre for Addiction and Mental Health; and The Hospital for Sick Children; and Department of Psychiatry, University of Toronto, Toronto, Canada.

Background: Children with autism spectrum disorder (ASD) have increased susceptibility to anxiety disorders. Variation in a common ASD symptom, insistence on sameness behaviour, may predict future anxiety symptoms.

Aims: To describe the joint heterogeneous longitudinal trajectories of insistence on sameness and anxiety in children with ASD and to characterise subgroups at higher risk for anxiety.

Method: In a longitudinal ASD cohort (n = 421), insistence on sameness behaviour was measured using the Autism Diagnostic Interview-Revised at approximately ages 3, 6 and 11 years. Anxiety was quantified at 8 time points between ages 3 and 11 years using the Child Behavior Checklist (CBCL) (parent report). Clusters of participants following similar trajectories were identified using group-based and joint trajectory modelling.

Results: Three insistence on sameness trajectories were identified: (a) 'low-stable' (41.7% of participants), (b) 'moderate-increasing' (52.0%) and (c) 'high-peaking' (i.e. increasing then stabilising/decreasing behaviour) (6.3%). Four anxiety trajectories were identified: (a) 'low-increasing' (51.0%), (b) 'moderate-decreasing' (16.2%), (c) 'moderate-increasing' (19.6%) and (d) 'high-stable' (13.1%). Of those assigned to the 'high-peaking' insistence on sameness trajectory, 95% jointly followed an anxiety trajectory that surpassed the threshold for clinical concern (T-score >65) by middle childhood (anxiety trajectories 3 or 4). Insistence on sameness and anxiety trajectories were similar in severity and direction for 64% of the sample; for 36%, incongruous patterns were seen (e.g. decreasing anxiety and increasing insistence on sameness).

Conclusions: The concurrent assessment of insistence on sameness behaviour and anxiety in ASD may help in understanding current symptom profiles and anticipating future trajectories. High preschool insistence on sameness in particular may be associated with elevated current or future anxiety symptoms.
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http://dx.doi.org/10.1192/bjp.2020.127DOI Listing
January 2021

Temperament influences the relationship between symptom severity and adaptive functioning in children with autism spectrum disorder.

Autism 2020 11 2;24(8):2057-2070. Epub 2020 Jul 2.

McMaster University, Canada.

Lay Abstract: Temperament is often thought of as behavioural traits that are relatively stable over time but can vary between individuals. Children diagnosed with autism spectrum disorder are often characterized as having 'reactive' and 'negative' temperaments when compared to same-aged peers with or without disabilities, which can negatively impact the development of adaptive functioning skills but little is known about variations of temperament between individual children diagnosed with autism spectrum disorder. This study aimed to (a) explore the variation of individual temperament traits within a sample of school-aged children with autism spectrum disorder to determine whether subgroups with similar trait profiles emerge and (b) examine whether temperament influences the relationship between autism symptoms and adaptive functioning outcomes. Results from our dataset suggest that children diagnosed with autism spectrum disorder fit under two profiles: 'even' and 'reactive'. Furthermore, our analysis shows that temperament can influence the impact of increasing symptom severity on adaptive functioning skills in children with autism spectrum disorder. Study findings highlight the importance of considering temperament when trying to understand the individual differences that influence the development of functioning and developmental outcomes in children with autism spectrum disorder.
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http://dx.doi.org/10.1177/1362361320933048DOI Listing
November 2020

EEG-IP: an international infant EEG data integration platform for the study of risk and resilience in autism and related conditions.

Mol Med 2020 05 7;26(1):40. Epub 2020 May 7.

Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montréal, Canada.

Background: Establishing reliable predictive and diganostic biomarkers of autism would enhance early identification and facilitate targeted intervention during periods of greatest plasticity in early brain development. High impact research on biomarkers is currently limited by relatively small sample sizes and the complexity of the autism phenotype.

Methods: EEG-IP is an International Infant EEG Data Integration Platform developed to advance biomarker discovery by enhancing the large scale integration of multi-site data. Currently, this is the largest multi-site standardized dataset of infant EEG data.

Results: First, multi-site data from longitudinal cohort studies of infants at risk for autism was pooled in a common repository with 1382 EEG longitudinal recordings, linked behavioral data, from 432 infants between 3- to 36-months of age. Second, to address challenges of limited comparability across independent recordings, EEG-IP applied the Brain Imaging Data Structure (BIDS)-EEG standard, resulting in a harmonized, extendable, and integrated data state. Finally, the pooled and harmonized raw data was preprocessed using a common signal processing pipeline that maximizes signal isolation and minimizes data reduction. With EEG-IP, we produced a fully standardized data set, of the pooled, harmonized, and pre-processed EEG data from multiple sites.

Conclusions: Implementing these integrated solutions for the first time with infant data has demonstrated success and challenges in generating a standardized multi-site data state. The challenges relate to annotation of signal sources, time, and ICA analysis during pre-processing. A number of future opportunities also emerge, including validation of analytic pipelines that can replicate existing findings and/or test novel hypotheses.
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http://dx.doi.org/10.1186/s10020-020-00149-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203847PMC
May 2020

Profiles and Predictors of Academic and Social School Functioning among Children with Autism Spectrum Disorder.

J Clin Child Adolesc Psychol 2021 Sep-Oct;50(5):656-668. Epub 2020 Apr 23.

Montreal Children's Hospital, McGill University.

: The purpose of the study was to identify profiles and predictors of academic and social functioning in a sample of school-age children with autism spectrum disorder.: The study included 178 children (88% boys, 75% Caucasian, ages 10-11) who completed a standardized measure of academic skills and whose teachers completed a related measure. Measures of both academic and social performance were used to construct profiles of school functioning. Measures of language, nonverbal IQ, autism symptom severity, behavior difficulties, and early social-communication skills between ages 3 and 4 were used to examine predictors of profile membership. Latent Profile Analysis was used to identify and describe profiles of children's academic and social school functioning. Profile membership was then regressed on each of the predictors using a series of multinomial logistic regression models. Finally, a multivariate model that included all significant predictors was built to examine the best fitting constellation of profile predictors.: Four profiles - reflecting variation in academic achievement, school engagement, socialization skills, pragmatic language use, and social relationships - captured the diverse school functioning outcomes of the sample. Profile membership was predicted by variation in imitation, responding to joint attention, language ability, nonverbal IQ and behavior difficulties between ages 3 and 4 years. However, in a multivariate model, only language and behavior difficulties emerged as significant predictors.: A person-centered approach to targeted early intervention that reduces behavior difficulties and enhances social-communication and language abilities may prove especially important for the promotion of later academic and social functioning at school.
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http://dx.doi.org/10.1080/15374416.2020.1750021DOI Listing
November 2021

A framework for an evidence-based gene list relevant to autism spectrum disorder.

Nat Rev Genet 2020 06 21;21(6):367-376. Epub 2020 Apr 21.

The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.
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http://dx.doi.org/10.1038/s41576-020-0231-2DOI Listing
June 2020

Neural and behavioural indices of face processing in siblings of children with autism spectrum disorder (ASD): A longitudinal study from infancy to mid-childhood.

Cortex 2020 06 29;127:162-179. Epub 2020 Feb 29.

Centre for Brain and Cognitive Development, Birkbeck, University of London, UK; Department of Psychology, Cambridge University, UK.

Impaired face processing is proposed to play a key role in the early development of autism spectrum disorder (ASD) and to be an endophenotypic trait which indexes genetic risk for the disorder. However, no published work has examined the development of face processing abilities from infancy into the school-age years and how they relate to ASD symptoms in individuals with or at high-risk for ASD. In this novel study we investigated neural and behavioural measures of face processing at age 7 months and again in mid-childhood (age 7 years) as well as social-communication and sensory symptoms in siblings at high (n = 42) and low (n = 35) familial risk for ASD. In mid-childhood, high-risk siblings showed atypical P1 and N170 event-related potential correlates of face processing and, for high-risk boys only, poorer face and object recognition ability compared to low-risk siblings. These neural and behavioural atypicalities were associated with each other and with higher social-communication and sensory symptoms in mid-childhood. Additionally, more atypical neural correlates of object (but not face) processing in infancy were associated with less right-lateralised (more atypical) N170 amplitudes and greater social-communication problems in mid-childhood. The implications for models of face processing in ASD are discussed.
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http://dx.doi.org/10.1016/j.cortex.2020.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254063PMC
June 2020

Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.

Res Dev Disabil 2020 May 28;100:103605. Epub 2020 Feb 28.

Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada; Research Institute of the McGill University Health Centre, Montreal, Canada. Electronic address:

Background: The clinical integration of chromosomal microarray testing promises improvements in diagnostic yields in Autism Spectrum Disorder (ASD). While the impact on clinical management is promising for some families, the utility perceived by families, including the majority for whom results are negative, is unclear. With next generation genomic sequencing technologies poised for integration, along with promising ASD biomarkers being developed, there is a need to understand the extent to which genomic and other biological testing would have utility for the target recipients of these tests and their families. The purpose of the present cross-sectional study was to examine the predictors of perceived utility of biological testing among parents of a child with ASD.

Methods: The Perceived Utility of Biotesting (PUB) Questionnaire was developed based on literature review and integrating family review. Following their child's diagnosis, families participating in an ongoing prospective study completed the PUB questionnaire along with self-reported measures of parent stress, child and family functioning, and family-centered care prior to undergoing genetic testing for both clinical and research purposes.

Results: Based on n = 85 families, psychometric properties of the Perceived Utility of Biotesting questionnaire suggest a reliable and valid instrument. A stepwise regression analysis reveals that lower levels of child emotional and behavioural functioning and higher levels of family functioning correlated with higher perceived utility for biological testing.

Limitations: A main limitation in the study is the participation rate of 50 %, thus the possibility of self-selection bias cannot be ruled out. We also chose to assess perceived utility among parents rather than the individuals with ASD themselves: modifying the questionnaire to capture perceived utility from autistic individuals across the lifespan would prove essential in future studies. Finally, ongoing validation of the PUB by assessing the PUB's discriminant and convergent validity is still needed.

Conclusions: We conclude that the utility of biological testing perceived by families whose child is undergoing genetic testing around ASD diagnosis depends on their unique child and family characteristics. This signifies that engaging families in biomarker discovery for improving the impact of research and care requires systematic input from a representative sample of families.
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http://dx.doi.org/10.1016/j.ridd.2020.103605DOI Listing
May 2020

Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.

Res Dev Disabil 2020 May 28;100:103605. Epub 2020 Feb 28.

Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada; Research Institute of the McGill University Health Centre, Montreal, Canada. Electronic address:

Background: The clinical integration of chromosomal microarray testing promises improvements in diagnostic yields in Autism Spectrum Disorder (ASD). While the impact on clinical management is promising for some families, the utility perceived by families, including the majority for whom results are negative, is unclear. With next generation genomic sequencing technologies poised for integration, along with promising ASD biomarkers being developed, there is a need to understand the extent to which genomic and other biological testing would have utility for the target recipients of these tests and their families. The purpose of the present cross-sectional study was to examine the predictors of perceived utility of biological testing among parents of a child with ASD.

Methods: The Perceived Utility of Biotesting (PUB) Questionnaire was developed based on literature review and integrating family review. Following their child's diagnosis, families participating in an ongoing prospective study completed the PUB questionnaire along with self-reported measures of parent stress, child and family functioning, and family-centered care prior to undergoing genetic testing for both clinical and research purposes.

Results: Based on n = 85 families, psychometric properties of the Perceived Utility of Biotesting questionnaire suggest a reliable and valid instrument. A stepwise regression analysis reveals that lower levels of child emotional and behavioural functioning and higher levels of family functioning correlated with higher perceived utility for biological testing.

Limitations: A main limitation in the study is the participation rate of 50 %, thus the possibility of self-selection bias cannot be ruled out. We also chose to assess perceived utility among parents rather than the individuals with ASD themselves: modifying the questionnaire to capture perceived utility from autistic individuals across the lifespan would prove essential in future studies. Finally, ongoing validation of the PUB by assessing the PUB's discriminant and convergent validity is still needed.

Conclusions: We conclude that the utility of biological testing perceived by families whose child is undergoing genetic testing around ASD diagnosis depends on their unique child and family characteristics. This signifies that engaging families in biomarker discovery for improving the impact of research and care requires systematic input from a representative sample of families.
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http://dx.doi.org/10.1016/j.ridd.2020.103605DOI Listing
May 2020
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