CHENNAI: In what could lead to a breakthrough if authenticated by further studies, a research by students of a city college assisted by experts at a government medical college in here has found a diagnostic marker for autism, a complex developmental disability for which no specific markers have been identified so far.
The study by students of Biochemistry Department of Bharathi Women’s College, assisted by Institute of Social Paediatrics, Government Stanley Medical College and Hospital and funded by Indian Council of Medical Research (ICMR), Delhi, was published in the international medical research journal, Clinica Chimica Acta.
The researchers have identified excess level of a protein in the urine samples of autistic children in and around Chennai. “The gene secreting this protein also have been affected in the autistic children,” said Professor Arumugam Geetha, head of Biochemistry Department of the College.
In the absence of a marker or clinical diagnosis, autism is diagnosed at present through personal observation and interview by trained specialists. Children are assessed only after they show developmental defects. “Till one year of age, the child would seem to be normal. But after two years, parents may see changes in the developmental activities. This leads to delay in diagnosis and treatment. Early intervention is important in addressing autism and this clinical diagnosis will help,” added Geetha, one of the authors of the study.
The study, approved by the Institutional Ethics Committee, Madras Medical College (MMC), included autistic children currently attending special schools like Maruti Seva, Bala Vihar, AIKYA and the National Institute for Empowerment of Persons with Multiple Disabilities (NIEPMD). It involved 30 children aged between 4 and 12 years, whose condition was confirmed with the help of a paediatrician. Samples were collected from a similar number of normal children as well.
In the study, the researchers found that the urinary Kininogen-I level in all the autistic children was significantly high when compared to that of normal children.
“This protein plays role in the signaling the pathway of a part of the brain in autism children, affecting their behaviour. The department has also done a similar investigation from serum samples and found Plexina-AI protein level, too, in excess in these children. Both these proteins, Plexina-AI and Kininogen-I, play role in the signaling pathway of a part of the brain. However, the serum study results are yet to be published,” said Vijayashankar Suganya, one of the authors.
The authors noted that this was a preliminary breakthrough which should be authenticated with a comprehensive study.