The high heterogeneity of the clinical presentation makes diagnosis of ASD difficult and uncertain, particularly at the early stages of development. Discovery and development of robust biomarkers for diagnosis and progression of severity of ASD is expected to facilitate earlier diagnosis and intervention. It will also likely reveal new causative factors [2, 3]. In particular, alteration in the metabolome and specific damaging biochemical modifications may reveal the presence of a shared metabolic impairment in children with an otherwise highly heterogeneous background, thus shedding some light on the etiopathogenesis of ASD. Genetic causes of ASD are evident in about 30–35% of cases. For the remaining 65–70% of patients, it is generally agreed that ASD results from the combination of environmental factors with multiple de novo mutations, copy number variation, and rare genetic variants, each possibly lending to additive effects. Environmental factors may also be involved and reflected in epigenetic modifications .
Autism is a lifelong, developmental condition that affects how a person communicates with and relates to other people, and how they experience the world around them.Find out more at autism.org.uk
We appreciate the impact of autism on not only those who have it but also on those around them. The variety and complexity of symptoms make autism difficult to diagnose with current tests and the process towards ascertaining a diagnosis can take a long time. The focus of our research work in general has been on understanding biological processes within the human body in both health and disease (including diabetes, heart disease, cancer, arthritis). Our aim is to improve our understanding of processes which in turn will help in both improving diagnosis and developing new therapies.
Recently, we received media attention for our work in developing a blood test which may help in the diagnosis of autism.
- American-Psychiatric-Association. Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Publishing; 2013.
- Walsh P, Elsabbagh M, Bolton P, Singh I. In search of biomarkers for autism: scientific, social and ethical challenges. Nat Rev Neurosci. 2011;12(10):603–12.
- Abruzzo PM, Ghezzo A, Bolotta A, Ferreri C, Minguzzi R, Vignini A, Visconti P, Marini M. Perspective biological markers for autism spectrum disorders: advantages of the use of receiver operating characteristic curves in evaluating marker sensitivity and specificity. Dis Markers. 2015;2015:329607.
- Loke YJ, Hannan AJ, Craig JM. The role of epigenetic change in autism spectrum disorders. Front Neurol. 2015;6:18.
Header image by Masika May and used under CC BY-NC-ND 2.0 license.