Study protocol for the Australian autism biobank: an international resource to advance autism discovery research

Abstract

BackgroundThe phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes. With advances in genetic and biological research alongside rapid-pace technological innovations, there is an increasing imperative to access large, representative, and diverse cohorts to advance knowledge of ASD. To date, there has not been any single collective effort towards a similar resource in Australia, which has its own unique ethnic and cultural diversity. The Australian Autism Biobank was initiated by the Cooperative Research Centre for Living with Autism (Autism CRC) to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD to facilitate future discovery research.MethodsThe primary group of participants were children with a confirmed diagnosis of ASD, aged between 2 and 17 years, recruited through four sites in Australia. No exclusion criteria regarding language level, cognitive ability, or comorbid conditions were applied to ensure a representative cohort was recruited. Both biological parents and siblings were invited to participate, along with children without a diagnosis of ASD, and children who had been queried for an ASD diagnosis but did not meet diagnostic criteria. All children completed cognitive assessments, with probands and parents completing additional assessments measuring ASD symptomatology. Parents completed questionnaires about their child’s medical history and early development. Physical measurements and biological samples (blood, stool, urine, and hair) were collected from children, and physical measurements and blood samples were collected from parents. Samples were sent to a central processing site and placed into long-term storage.DiscussionThe establishment of this biobank is a valuable international resource incorporating detailed clinical and biological information that will help accelerate the pace of ASD discovery research. Recruitment into this study has also supported the feasibility of large-scale biological sample collection in children diagnosed with ASD with comprehensive phenotyping across a wide range of ages, intellectual abilities, and levels of adaptive functioning. This biological and clinical resource will be open to data access requests from national and international researchers to support future discovery research that will benefit the autistic community.

Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions: An Integrative Review

“…Recent meta-analytic evidence confirms an association between sleep disturbances and increased inflammation, suggesting that improvements in one system could potentially positively impact upon other regulatory systems (243). Generating evidence for such hypotheses require large and detailed biological datasets from children with ASD across their developmental course [e.g., (244–246).…”

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

“…A full description of the AAB biobank is provided by Alvares et al [ 14 ]. Participants were recruited between 2013 and 2018 from four major autism research centres or developmental clinics across Australia—in Perth, Brisbane, Melbourne and Sydney.…”

“…The AAB includes detailed phenotypic data [14]. For the ASD group, clinical assessments were administered and questionnaires were completed by parents or caregivers, including the Autism Diagnostic Observation Schedule-2 (ADOS-2) [17] or Autism Diagnostic Observation Schedule-G (ADOS-G) [17], Developmental, Dimensional and Diagnostic Interview [18]), Vineland Adaptive Behavior Scale-II [19], and the Short Sensory Profile-2 (SSP-2) [20].…”

“…The Australian Autism Biobank (AAB) [ 14 ] is an initiative of the Australian Cooperative Research Centre for Living with Autism (Autism CRC, website at [ 15 ]) that recruited individuals aged 2 to 17 years diagnosed with ASD, their parents and undiagnosed siblings, together with unrelated undiagnosed children from Australia’s four most populous states. The value of the AAB, although relatively modest in size, lies in the depth of the dataset, which includes detailed phenotypic data (psychological and behavioural testing, medical history, parental medical history, and lifestyle data including diet (children only), parental occupation and educational attainment, and parental exposures to psychological and chemical hazards), biospecimens (including blood, urine, stool, hair and saliva) and derived genomic data (SNP genotyping, DNA methylation, stool metagenomics, and metabolomics).…”

The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy

“…Given the vast heterogeneity of ASD, one may assume that different ethnic communities and geographic locations with different genetics, environments, education systems, health resources, and cultural norms will require different solutions. Examples of such work include the Australian Autism Biobank (Alvares et al 2018) and the Italian Autism Network (Muglia et al 2018).…”