Epigenetics of autism information

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Autism spectrum disorder (ASD) refers to a variety of conditions typically identified by challenges with social skills, communication, speech, and repetitive sensory-motor behaviors. The 11th International Classification of Diseases (ICD-11), released in January 2021, characterizes ASD by the associated deficits in the ability to initiate and sustain two-way social communication and restricted or repetitive behavior unusual for the individual's age or situation.^[1] Although linked with early childhood, the symptoms can appear later as well. Symptoms can be detected before the age of two and experienced practitioners can give a reliable diagnosis by that age. However, official diagnosis may not occur until much older, even well into adulthood. There is a large degree of variation in how much support a person with ASD needs in day-to-day life. This can be classified by a further diagnosis of ASD level 1, level 2, or level 3. Of these, ASD level 3 describes people requiring very substantial support and who experience more severe symptoms.^[2] ASD-related deficits in nonverbal and verbal social skills can result in impediments in personal, family, social, educational, and occupational situations. This disorder tends to have a strong correlation with genetics along with other factors. More research is identifying ways in which epigenetics is linked to autism. Epigenetics generally refers to the ways in which chromatin structure is altered to affect gene expression. Mechanisms such as cytosine regulation and post-translational modifications of histones. Of the 215 genes contributing, to some extent in ASD, 42 have been found to be involved in epigenetic modification of gene expression.^[3] Some examples of ASD signs are specific or repeated behaviors, enhanced sensitivity to materials, being upset by changes in routine, appearing to show reduced interest in others, avoiding eye contact and limitations in social situations, as well as verbal communication. When social interaction becomes more important, some whose condition might have been overlooked suffer social and other exclusion and are more likely to have coexisting mental and physical conditions.^[4] Long-term problems include difficulties in daily living such as managing schedules, hypersensitivities (e.g., to foods, noises, fabric textures, light), initiating and sustaining relationships, and maintaining jobs.^[5][6]

Diagnosis is based on observation of behavior and development. Many, especially girls and those who have fewer social difficulties, may have been misdiagnosed with other conditions. Males are diagnosed with ASD four to five times more often than females.^[6][7] The reasons for this remain predominantly unclear, but current hypotheses include a higher testosterone level in utero, different presentations of symptoms in females (leading to misdiagnosis or underdiagnosis) compared to males, and gender bias.^[8] Clinical assessment of children can involve a variety of individuals, including the caregiver(s), the child, and a core team of professionals (pediatricians, child psychiatrists, speech-and-language therapists and clinical/educational psychologists).^[9][10] For adult diagnosis, clinicians identify neurodevelopmental history, behaviors, difficulties in communication, limited interests and problems in education, employment, and social relationships. Challenging behaviors may be assessed with functional analysis to identify the triggers causing them.^[11] The sex and gender disparity in ASD diagnostics requires further research in terms of adding diagnosis specifiers as well as female-oriented examples, which may be masked through camouflaging behaviors. Camouflaging is defined as a coping mechanism used in social situations, consisting of individuals pretending to be other people without any communication difficulties.^[12] Because of camouflaging and other societal factors, females with ASD are more likely to be diagnosed late or with a different mental health concern. In general, it is critical for people to understand that the female ASD phenotype is less noticeable, especially when they present as "higher functioning" than others with ASD. Lastly, due to the imbalance in sexes participating in ASD studies, the literature is potentially biased towards the ways that it presents in male individuals.^[13]

ASD is considered a lifelong condition and has no "cure." Many professionals, advocates, and people in the autistic community agree that a cure is not the answer and efforts should instead focus on methods to help people with ASD have happier, healthier, and, if possible, independent lives.^[14] Support efforts include teaching social and behavioral skills, monitoring, factoring-in co-existing conditions, and guidance for the caregivers, family, educators, and employers. There is no specific medication for ASD, however, drugs can be prescribed for other co-existing mental health conditions, such as anxiety. A study in 2019 found that the management of challenging behaviors was generally of low quality, with little support for long-term usage of psychotropic drugs, and concerns about their inappropriate prescription.^[15][16] Genetic research has improved the understanding of ASD-related molecular pathways. Animal research has pointed to the reversibility of phenotypes but the studies are at an early stage.^[17]