Research Problem

I don't think I posted this previously, so I'm going to go ahead and post it prior to inclusion in my Draft Research Prospectus (even though it still needs some work):

Autism or Autism Spectrum Disorder (ASD) is a prevalent neurological disorder, facing millions of children worldwide. Diagnosis is typically made in early childhood by trained professionals, based on a scale of specific characteristics established by the Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview – Revised (ADI-R), which developed only as recently as the 1990s. ASD can often be overwhelmingly devastating, with impairments in language, perception, cognitive development, and social interactions. (Abrahams and Geschwind 2008)

Identification of the cause(s) of ASD remains elusive. Unfortunately, many parents forego important immunizations for their children for fear that they will cause autism. However, a link between childhood immunizations and autism has not been proven. Rather, current scientific studies have indicated that there are possible genetic linkages which increase the susceptibility to the disorder, although environmental factors have not been completely ruled out. Chromosomal abnormalities, although rare, have also been shown to be a factor. (Weiss and Arking 2009) Additionally, there appears to be a crossover of genetic linkages between ASD and other neurological disorders, such as Obsessive-Compulsive Disorder and mental retardation. (Gregory et al 2009)

Several key questions need to be answered in order to effectively attack the problem of autism spectrum disorders. Can autism be diagnosed, and if so, how early? Is it possible that one day genetic counselors will able to identify factors during pregnancy? Could a test, similar to the PKU test conducted on newborns be developed in order to provide early intervention? Does genetic risk act alone or in concert with environmental factors?

It is clear that, although significant findings have been promising, more studies that involve both genetic and environmental factors are needed to narrow the focus. (Abrahams and Geschwind 2008) The rates of autism related disorders are clearly on the rise, and although we have been able to find effective therapies, the best outcomes require early diagnosis, early intervention and if possible, prevention. This proposal seeks to conduct a study which will address each of these issues equally.

Bibliography

Abrahams BS, Geschwind BS. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. [Internet] 2008 May:9(5):341-355. [cited 2010 Feb 26] Available from: http://www.nchi.nlm.nih.gov/entrez/query.fcgi?db=gene. Doi:10.1038/nrg2346.

Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Medicine. [Internet] 2009, 7:62 [cited 2010 Feb 26] Available from: http://biomedcentral.com/1741-7015/7/62. Doi:10.1186/1741-7015-7-62.

Weiss LA, Arking DE & The Gene Discovery Project of Johns Hopkins & the Autism Consortium. A genome-wide linkage and association scan reveals novel loci for autism. Nature [Internet] 2009 8 Oct, 461. [cited 2010 Feb 26] Available from: http://nature.com/nature08490. Doi:10.1038/nature08490.