Human connections in high-risk autism spectrum disorder individuals and those with autism spectrum disorder and Fragile X syndrome

    Autism spectrum disorder (ASD) is a genetic developmental disorder. According to the CDC, ASD is more than three times as common in males than females. The most common symptoms of those with ASD are issues communicating with interpersonal communication and confined or repetitive behaviors and interests. They may also have difficulty learning, moving, and paying attention. According to the CDC, the incidence rate of ASD has increased from 6.7% in 2000 to 27.6% in 2020. Fragile X syndrome (FXS) is also a genetic disorder. FXS affects both males and females but symptoms are usually milder in females. Symptoms include being developmentally behind compared to their peers in talking, learning, and social skills such as difficulty paying attention. The statistics of FXS in the United States are that it occurs in about one in 7,000 males and approximately one in 11,000 females. Thus, both ASD and FXS have many overlapping symptoms such as learning disabilities.

    “Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism” by Maggie W. Guy investigates two main concepts. ERP stands for event-related potentials, which are small voltages generated in response to specific stimuli. The researchers tested different types of head models for MRI and studied an ERP component (N290) with cortical source analysis to study her patient population. They studied infant populations that were at risk for autism and see if they differed in facial processing in the hope of better understanding the underlying neurological correlates. The two high-risk populations studied were infant siblings of children with autism and infants with Fragile X syndrome. After testing multiple head models, the researchers found that the IBIS head model was the most accurate for MRI for high-risk patients. The importance of finding the most accurate head model for testing is because unique populations require unique head models and inaccurate models may lead to misleading results. The cortical source analysis found that both groups had higher activation of their own mother’s faces compared to toys in areas such as the middle fusiform gyrus, anterior fusiform gyrus, parahippocampal gyrus, and lingual gyrus. However, the levels of activation were greater in infants with Fragile X syndrome compared to the infant siblings of children with autism.

    Maggie W. Guy and her colleagues found that both groups had higher activation of their own mother’s faces. My question is if the emotion or facial expression would have an impact on the results. “Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotion in Fragile X Syndrome and Autism Spectrum Disorder” by Hayley Crawford performed a comparison study between individuals with Fragile X syndrome and individuals with an autism spectrum disorder in terms of different facial expressions. The two facial expressions studied were happy and disgusted as well as neutral expressions. The subjects were 13 individuals with Fragile X syndrome which included one female with the average age being around 20 years old; for autism spectrum disorder, there were 15 individuals that included three females with the average age being 11 years old. The researchers found that individuals with Fragile X syndrome and individuals with autism spectrum disorder had very similar results in terms of discriminating between the two facial expressions spontaneously, or in the moment. However, individuals with Fragile X syndrome gazed significantly less at the eyes of neutral faces than those with an autism spectrum disorder.

    These two studies explored different aspects of facial recognition in individuals with Fragile X syndrome and individuals with an autism spectrum disorder. However, despite this, there are commonalities between the two studies. An obvious commonality is that both of these studies compare facial recognition for individuals with Fragile X syndrome and individuals with an autism spectrum disorder. However, a few differences include age differences in subjects. The study by Maggie W. Guy studied an infant population while the study by Hayley Crawley studied pre-teens and young adults. Another difference is that the study by Maggie W. Guy studied infants that only had a high risk for autism such as siblings of individuals with autism and infants with Fragile X syndrome while the study by Hayley Crawley studied actual individuals with autism and those with Fragile X syndrome. A final difference is the study by Maggie W. Guy studied facial recognition while the study by Hayley Crawley studied facial expressions, in other words, emotions. The first connection that can be made is that both articles studied the same disease, whether it was in high-risk individuals or in those who actually had the disease. Another connection is that both articles studied aspects of the face such as recognition and emotion. Lastly, both articles can be related to human connection and recognition. There is an aspect of social relationships for both. The article by Maggie W. Guy focuses on an infant’s connection to their mother while the article by Hayley Crawley focuses on distinguishing between human emotions, a task all of us perform on a daily basis. This is interesting because each article studied different populations but they are still connected. The first contribution these articles can have to the field of facial recognition and expression in individuals with Fragile X syndrome and individuals with autism spectrum disorder is that I believe that a clinical tie can be made. These two studies allow us to better understand how individuals with ASD and FXS as well as those at higher risk of ASD compared to the general population interact with others and how they distinguish and recognize faces and emotions. I believe that with this better understanding, we can better understand the pathogenesis of these diseases and thus help treat these patients more effectively and help them live a more fulfilling life.

Works Cited

Crawford, Hayley, et al. “Implicit Discrimination of Basic Facial Expressions of Positive/Negative Emotion in Fragile X Syndrome and Autism Spectrum Disorder.” American Journal on Intellectual and Developmental Disabilities, vol. 120, no. 4, July 2015, pp. 328–345, https://doi.org/10.1352/1944-7558-120.4.328. Accessed 26 Feb. 2020.

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, 25 Aug. 2022, p. 1129, https://doi.org/10.3390/brainsci12091129. Accessed 29 Jan. 2023.