Autism: Fitting the Pieces Together

TheUnitedNation declaredApril 2 asWorld AutismAwarenessDay in 2007, to highlight the need to help improve the lives of children and adultswith autism. TheAutismSociety of AmericamarksApril asNational Autism Awareness Month, while in the UK, from March 27 to April 2, 2015, the National Autistic Society also holds World Autism Awareness Week with the campaign “Stand Out for Autism”. These events are to raise public awareness of this lifelong developmental condition that can affect the way a person communicates with and relates to others, as well as how they make sense of the world. Not only might autism negatively impact the quality of life of affected individuals and their caregivers, but providing the healthcare, social care and education that individuals need and deserve is also costly. Autism prevalence has increased substantially from 1 in 2500 in the 1980s when autism was first included in DSM-III to 1 in 100 at present. This increase can in part be attributed to a number of factors, including early detection, increased awareness, and broadening of the definition from the original entity first described by Kanner in 1943 to include socalled autistic spectrum disorders. Autism can be diagnosed at 2– 3 years of age, and affected individuals usually have a normal lifespan. This puts autism on the same magnitude in terms of patient years with one of the most prevalent neurological disorders—Alzheimer's disease. There is no known cure for autism; however, there are many approaches and forms of support that can help people with autism to manage their condition and fulfil their potential. Successful management can depend on early diagnosis and behavioral and educational therapies. While medication (e.g., antipsychotics) does not address the core neurological issues associatedwith autism, it can helpwithmental health problems such as anxiety and depression and treat other behaviors such as aggression. There is a clear unmet need in autism management due to a lack in basic understanding of definitive causative factors, how they lead to autism, and whether any of themmay be amenable to interventions. Dating back nearly 40 years to the work of Folstein and Rutter, family and twin studies have demonstrated a highly heritable component to autism, evident by high concordance rate in monoand di-zygotic twins. Given this genetic predisposition, significant efforts have been made in identifying autism risk genes. Geneticists have levered genome-wide and candidate gene approaches and have linked dozens of gene variants to autism; however, no single locus accounts for more than 1% of cases. Some of these genes have a role in neuronal synaptic activities. These genes also affect other neurological and psychiatric disorders and not just autism. Nevertheless, the fact that autism can sometimes run in families suggests strong genetic risk factor(s) yet to be pinpointed. Exposure to environmental factors (e.g., certain drugs and toxins during early pregnancy) has also been implicated to increase the risk of developing autism in the newborn. However, research in this area is difficult due to a large number of variables that need to be controlled for; hence the results to date are not conclusive.