Photo Credit : Janelle Lugge Scientists are investigating the genetic mystery behind autism. This follows a 20-year increase in its use. Autism Spectrum Disorder (ASD) is known as one of the most heritable neuropsychiatric disorders. Geneticists believe that upward of 80 percent of autism is due to inherited genetic signatures – those that are passed down through families. Current research indicates that 10 to 15 percent of cases are due to new mutations. These mutations, or de novo mutations, happen in the child— not inherited from a parent.
What’s more, scientists are wading into this contentious issue. They’ve identified deletions and point mutations in nearly 200 genes, most of which have functions in critical pathways for early brain development. Autism isn’t simple or straightforward. There is not a singular origin or manifestation of the disease. Unfortunately, according to Zachary Warren, one of the field’s leading researchers, the answers are absurdly complicated. This complexity is, in large part, due to the fact that autism is multi-dimensional. This important complexity presents a conundrum for diagnosis and understanding the condition’s etiology.
Genetic Contributions to Autism
Given autism’s heritable nature, it is not surprising that genetic factors are central to its expression. Numerous studies have demonstrated that inherited factors are responsible for approximately 95 percent of autism cases. Moreover, de novo and recessive mutations play a meaningful role in this condition. In fact, inherited factors or de novo and recessive mutations factor into almost 95 percent of autism, according to prominent geneticist Daniel Geschwind. It emphasizes how key genetics are to the etiology of the disorder. This staggering statistic highlights the need to better understand the role of genetic predispositions within the context of ASD.
Even more complicating, there is a level genetic risk that people can possess and not go on to develop autism. Once this threshold is exceeded, the probability of the disorder developing expands. Daniel Geschwind expanded on this idea. He added, “There’s a threshold of genetic risk that you can be over without developing autism. When you exceed that threshold, you’re at an elevated risk for the disorder.” Such knowledge can further help target at-risk populations and develop more efficient early interventions.
In addition, environmental factors seem to play a role in affecting autism risk. Preterm birth is a significant risk factor for newborns. Because of improvements in neonatal care, survival rates have increased dramatically for preterm babies. View on Social Science Space These changes would likely result in a higher prevalence of autism diagnosis. An increasing number of children born prematurely are being diagnosed with the disorder.
Prevalence and Demographics
The rate of autism differs dramatically between communities in the United States. According to the latest National Health Interview Survey, in 2022 there were 32.2 ASD diagnoses per 1,000 eight-year-old children. Worse, that’s about one out of every 31 kids at 16 research sites (that many!) suffering from the disease. Among these four states, California has a particularly high outlier of 53.1 cases per 1,000 children. By contrast, our southern neighbor Laredo, Texas, reports an average prevalence of only 9.7 per 1,000.
Recent data does show disparate autism rates by race/ethnicity. In fact, the rates of autism are higher for multiracial, Black, Hispanic, American Indian, Alaska Native, and Asian & Pacific Islander children. This trend is the opposite of their white peers. These results underscore the importance of addressing social determinants of health. So now we need to make sure that all communities have equitable access to diagnostic resources.
Zachary Warren remarked on the increasing recognition of autism within communities: “The thing I think that everyone can state, without question or controversy, is that the work really does highlight how unbelievably common autism now is across communities in the U.S.” With the growing awareness comes the urgency to improve services for those with autism and their families.
The Role of Diagnosis and Awareness
Many experts now widely acknowledge that some of that rise in autism prevalence is due to better detection and diagnosis. To that point, Dennis Kuo explained, “The overwhelming majority of this, I truly believe, is just recognition or better detection and diagnosis. And as healthcare professionals increasingly become trained to look for the early signs of autism, an increased number of children are diagnosed at an earlier age.
Yet with this heightened awareness comes an even greater challenge to make sure that autistic people are treated as human beings and with the same dignity and respect. The Autistic Self Advocacy Network urges all creators developing autism-related media to refrain from portraying autistic people as a plague or a liability on the world. Instead, we need to understand them as distinct individuals with their own musings and creativity surrounding their disabilities. This view makes the case for a broader, more holistic autism narrative that embraces the diversity of understanding and experience.
As the studies continue to crop up, advocates urge more resources to be poured into discovering solutions and developing more robust support services. We need to be doubling down on our commitment to finding those answers and to constructing improved services,” implored Zachary Warren. The road ahead involves not only understanding the genetic underpinnings of autism but fostering environments where individuals can thrive.
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