The Australian Autism Biobank: A National Initiative to Accelerate ASD Discovery Research

Background: The clinical (phenotypic) and genetic heterogeneity of Autism Spectrum Disorder (ASD) presents an enormous challenge to understanding etiological pathways and clinical outcomes. With significant advances in genetic and biological research alongside rapid-pace technological innovations, there is an increasing imperative to establish large and comprehensive bio-resources to support discovery research. To date, there has not yet been any single collective effort to establish such a resource in Australia, which has its own unique ethnic and cultural diversity.

Objectives: The Australian Autism Biobank was initiated by the Cooperative Research Centre for Living with Autism (Autism CRC). The aim of this initiative is to establish a large-scale repository of detailed phenotypic and biological information to facilitate future ASD discovery research.

Methods: Participants are children with a confirmed diagnosis of ASD (‘probands’), aged between 2-17 years, at four national data collection sites in Australia. Biological parents and siblings are also invited to participate, as well as typically developing children (‘controls’) recruited from the general community. No exclusion criteria regarding language level, cognitive ability, or comorbid medical, psychiatric or genetic condition are applied to children diagnosed with ASD. All children complete cognitive or developmental assessments, with probands additionally completing an ASD diagnostic assessment. Parents/caregivers of probands are asked to complete questionnaires about medical history and current symptoms, along with an interview about early development. Physical measurements as well as blood, stool, urine, and hair samples are collected from all children; physical measurements and blood samples are collected from both parents, where possible. Samples are sent to a central processing site and placed in long-term storage at a specialised biobanking facility.

Results: With recruitment still ongoing, 691 probands (144 females) have been recruited to date, with an average age of 7.59 (SD = 3.95) years at assessment. In addition, 566 mothers (M = 39.37 years, SD = 6.67), 384 fathers (M = 42.27 years, SD = 7.53), and 124 siblings (M = 7.87 years, SD = 4.26) have been recruited, forming 415 (60.58%) complete ‘trios’ (a proband with biological mother and father) and 88 (12.74%) complete ‘quads’ (a proband with a sibling and both biological parents). 211 (30.54%) probands were from 99 multiplex families; that is, families comprising multiple children diagnosed with ASD (between 2 to 5 children). The current cohort also includes 11 concordant and 3 discordant twin pairs.

Conclusions: The establishment of this Australian biobank has resulted in a valuable resource of detailed clinical and biological information that will help accelerate the pace of ASD discovery research. Recruitment numbers to date support the feasibility of large-scale biological sample collection in children diagnosed with ASD with comprehensive phenotyping across a wide range of ages, adaptive functioning, and cognitive levels. The initial characteristics observed in this sample appear to be broadly in line with international surveillance efforts and suggest a representative sample of children across the four largest metropolitan areas in Australia. Recruitment is currently ongoing, with data access requests available in the near future.