Autism Gene Sequencing
ART has awarded £100,000 to perform 'deep sequencing' of some promsing candidate genes for autism. In addition, the ARC has identified families with multiple children with autism and will conduct ‘whole genome’ scans of these family members, to reveal key genes for autism.
GP Red Flags in Autism
There is frequently a significant delay between the point of first concern and an eventual diagnosis of an autism spectrum condition (ASC). This may in part be due to primary care providers not being sufficiently informed about the more subtle manifestations of ASC, such as Asperger Syndrome (AS). GPs may be the first point of contact for parents of children with concerns about autistic traits, as well as for adults with concerns that they themselves possibly have an ASC such as AS. GPs need to be able to identify children and adults who may require a specialist diagnostic assessment and therefore need to make an appropriate referral. ART has provided £17,500 to create a website for parents and adults in the community to use, as well as primary health professionals by providing them with short tools to help them to make decisions about whether or not to seek or refer a patient for a specialist assessment for possible ASC.
The ARC found that autism rates were higher in Eindhoven, a city in the Netherlands known for its concentration of IT (information technology). The ARC would like to test the prevalence rate of autism among children of employees in STEM jobs; and to test is this increase is associated with having two parents who work in STEM jobs, compared to either just one, or none. ART has given £19,000 to the ARC to develop and implement a survey for the employees of Alcatel-Lucent.
Cambridge Autism Research Database
The ARC holds a database of 30,000 individuals who have volunteered to help with autism research. They have all volunteered over a 10 year period via a web portal at www.autismresearchcentre. The ARC now wish to build a search engine to exploit this database. The search engine will enable ARC researchers to query the database by selecting the type of person (by age, sex, diagnosis, occupation, family history, etc.,) and their test scores on over a dozen different psychological measures (questionnaires, performance tests), as well as their demographics, and medical history information. ART has given £2,500 to the ARC to make the database research friendly.
Oxytocin is sometimes referred to as the ‘social hormone’ because it makes people feel emotionally more connected to each other. Research in the general population has shown that a dose of oxytocin administered either intravenously or by nasal spray leads to improvements in emotion recognition. Research in autism has also shown that a dose of oxytocin administered intravenously improves some aspects of social skills.
We are covering the costs of the pilot study to be done by the Autism Research Centre to evaluate the side-effects of oxytocin and the benefits of oxytocin by measuring both social and non-social skills whilst under the influence of oxytocin nasal spray. The pilot study will enable the research team to work with the first 16 participants to evaluate the protocol.
We have made it possible for a PHD student from the Autism Research Centre to attend the International Meeting for Autism Research (IMFAR). Stimulating more scientific progress in understanding autism requires a dedicated annual interdisciplinary conference for researchers to share their findings and their resources. Scientific progress also requires the continuous development of new scientists from many disciplines. Attendance of IMFAR will provide an unparalleled opportunity to motivate this talented individual to pursue a career in autism research.