What we now know as Autism Spectrum Disorder, was formerly recognized as a type of childhood schizophrenia. It was thought to have developed due to cold or neglectful parenting. This theory was eventually debunked in the 1960's - 1970's as a result of new research that indicated it had a biological influence and was rooted in brain development. It was then described as a set of related developmental disorders. In 1994, the DSM-4 was the first edition to recognize autism to be a spectrum. After a long history of evolving descriptions, the diagnostic criteria for Autism Spectrum Disorder has evolved as well. Autism Spectrum Disorder differs from many other neurological and developmental disorders in that ASD has a large variation in the severity and type of symptoms presented. The DSM-5 characterizes the Autism Spectrum Disorder diagnosis with two sets of attributes. One of them is "persistent impairment in reciprocal social communication and social interaction", and the second one is "restricted, repetitive patterns of behavior". Each of these is present during early childhood.
ASD can be difficult to diagnose because there is no standard medical test that can be administered in order to detect the disorder. Rather, physicians must refer to the developmental history and behavior of a child in order to make a diagnosis. The lack of a straightforward diagnostic process has sparked the interest of many researchers. One of them being Maggie Guy. In the article titled Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism, researchers discuss possible biomarkers of autism that could help diagnose children at an earlier stage. An earlier diagnosis would allow for earlier intervention. Earlier intervention would improve the effectiveness of treatment plans, thus improving the child's overall quality of life. This particular study sought to find potential biomarkers by investigating information processing in children that were considered to be at high risk for developing autism. This study looked at two different groups of children that were considered to be a high risk for developing ASD. The first group was infants with siblings that were diagnosed with ASD, this group was referred to as ASIBs. The second group was infants with fragile X syndrome. In this study, researchers investigated the face-sensitive N290 event related potential component in the infants considered to be at high risk for developing ASD. Researchers were particularly interested in learning about the facial processing in these infants because atypical facial processing is known to be an example of behavioral deficits in children with ASD. The results this study indicated that infants with fragile X syndrome exhibited higher levels of activation in response to faces, while ASIBs exhibited lower levels of activation. The results of this study suggest a potential for discovering a possible biomarker, but more research on the topic is needed.
Discovering a biomarker for ASD is important for diagnosing girls in particular. This is because there is an apparent delay in diagnosing girls in comparison to boys. The article titled Girls Diagnosed with Autism Later than Boys, Study Says states that on average, girls are diagnosed with autism about a year and half after boys. This is can be attributed to the fact that the traits for girls are often more subtle than for boys, making them harder to detect. The signs of ASD in girls are harder to detect at an early age because they become apparent in social settings. This means that they typically only can be detected when girls enter elementary and are noticeably not interacting with their piers. A later diagnosis for girls places them at a disadvantage by delaying their treatment plan.
Considering early intervention is essential for effective treatment plans, it is important that more research is done to improve diagnosis. The sooner a child can be diagnosed, the sooner they can receive the proper help. Discovering a biomarker would make it possible to diagnose ASD at a much earlier stage, which would improve the overall quality of life of children with ASD. This would be particularly beneficial for girls because it would eliminate the need to diagnose based solely on behavioral signs.
References:
Zeldovich, Lina. “The Evolution of ‘Autism’ as a Diagnosis, Explained.” Spectrum, 2018, https://doi.org/10.53053/uuxk4243.
Guy, Maggie W., et al. “Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism.” Brain Sciences, vol. 12, no. 9, 2022, p. 1129., https://doi.org/10.3390/brainsci12091129.
Foremae. “Girls Diagnosed with Autism Later than Boys, Study Says.” Cleveland Clinic Newsroom, Cleveland Clinic Newsroom, 25 Aug. 2020, https://newsroom.clevelandclinic.org/2020/08/25/girls-diagnosed-with-autism-later-than-boys-study-says/.
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