G.Alvares- The misnomer of "high functioning autism" скачать в хорошем качестве

G.Alvares- The misnomer of "high functioning autism"

Presentation given by Gail Alvares, Telethon Kids Institute, University of Western Australia, Subiaco (Australia) at the Autism-Europe's 12th International Congress 2019: "A New Dynamic for Change and Inclusion", held the 13-15th September 2019 in Nice, France. Introduction The clinical and genetic heterogeneity within Autism Spectrum Disorder (ASD) represents significant challenges to advancing knowledge about etiological pathways. Considerable progress has been made through collaborative and large-scale projects, necessitating a similarly large resource to be established in Australia. Established in 2014, the Australian Autism Biobank was initiated by the Cooperative Research Centre for Living with Autism (Autism CRC). Methods Participants were children with a diagnosis of ASD, aged between 2-17 years. Biological parents and siblings, both with and without ASD, also participated, as well as non-autistic children (‘controls’) from the general community. A smaller group of children clinically referred for an ASD diagnostic evaluation but who did not meet diagnostic criteria were also invited to participate (‘ASD-query’). No exclusion criteria regarding language level, cognitive ability, or co-ocurring conditions was applied to children diagnosed with ASD. All children completed cognitive or developmental assessments. Parents/caregivers completed questionnaires about medical and developmental history. Physical measurements as well as blood, stool, urine, and hair samples were collected from children, physical measurements and blood samples were collected from both parents of probands. Results A total of 979 children diagnosed with autism participated (20.4% females, 83.4% Caucasian), with an average age of 7.4±3.9 years (mean±SD) at assessment. 173 autistic siblings were also recruited (7.8±3.5 years, 30.1% females), comprising 145 multiplex families (between 2-5 children diagnosed) and 27 twin pairs. 847 mothers (39.5±6.4 years, range 22-68 years), 548 fathers (42.1±7.5 years, range 19-82 years) and 263 non-autistic siblings (8.2±4.2 years, range 2-16, 51% females) also participated. 150 non-autistic controls (6.2±3.4 years, 2-15 years, 51% female) and 16 ASD-query children (6.1±2.6, 3-10 years, 50% female) were also included in the cohort. 31.4% had a diagnosed Intellectual Disability or Developmental Delay (n = 311), 4.5% had epilepsy (n = 45), and 2.2% had a diagnosed genetic condition (n = 22). Discussion This initiative has resulted in a valuable and detailed resource comprising clinical information alongside biological samples to help increase our understanding of the underlying mechanisms associated with an ASD diagnosis. Both phenotypic and biological data are now available for access requests from the research community.