Families with multiple cases offer insights into the origins of autism
Families with multiple cases offer insights into the origins of autism
Unearthing New Insights into Autism: The Role of Genes and Language Delay
Autism, a developmental disorder with various complex manifestations, has long been a subject of extensive research and scientific inquiry. In a recent study, researchers have made significant strides in understanding the genetic factors that contribute to this disorder.
According to Dr. Daniel Geschwind, a professor of human genetics, neurology, and psychiatry at UCLA, the study design is crucial in unraveling the mysteries of autism. Prior research has primarily focused on families with one autistic child, neglecting the valuable insights that can be gained from exploring families with multiple affected children.
The research team performed whole-genome sequencing on over 4,550 individuals from over 1,000 families, each with at least two children diagnosed with autism. This diverse group included more than 1,800 children with autism and over 400 children without a diagnosis. Through their exhaustive analysis, they identified seven potential genes associated with an increased risk of developing autism: PLEKHA8, PRR25, FBXL13, VPS54, SLFN5, SNCAIP, and TGM1.
Interestingly, most of these newfound genes were supported by rare inherited DNA variations passed down from parents to children. This finding emphasizes the importance of rare inherited variations and their interplay with common genetic variations in determining the risk of autism development. While 50% of the genetic risk is attributed to common genetic variation, an additional 15-20% is linked to spontaneous mutations or predictable inheritance patterns. However, the remaining genetic risk factors remain to be discovered.
The study also investigated the concept of polygenic risk, wherein a combination of commonly found genetic variations can increase the likelihood of autism development. It was observed that children who inherited rare mutations from unaffected parents, in combination with a polygenic risk, had a higher probability of being diagnosed with autism.
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One intriguing aspect illuminated by this study is the observation that parents who carry a single rare mutation often do not exhibit signs of autism themselves, even if their children are affected. This finding aligns with the liability threshold model in behavioral genetics, which postulates an additive effect of genes influencing the probability of developing a specific trait.
Furthermore, the research team discovered significant correlations between autism and language delay. Children who inherited a polygenic score associated with autism, in conjunction with a language delay, displayed a heightened susceptibility to the disorder. This relationship between genetic risk and language delay was unique to autism and could not be observed in educational attainment, schizophrenia, or bipolar disorder. Such findings suggest a strong link between the genetic factors contributing to autism and language development.
Dr. Geschwind aptly states, “This association of general risk for [autism] that was strongest in those with language delay suggests that language is actually a core component of [autism].” This insight into the role of language in autism deepens our understanding of the disorder’s complexity.
These groundbreaking insights into the genetic factors influencing autism provide a stepping stone for future research and potential therapeutic interventions. By expanding the study focus to include families with multiple autistic children, researchers are shedding light on previously unexplored genetic variations and their interaction with common genetic factors. The identification of specific genes associated with autism and the significance of language delay offer valuable opportunities for further investigation.
In conclusion, the study conducted by UCLA researchers holds immense promise for advancing our comprehension of autism spectrum disorder. By delving into the intricate world of genes and their connection to language delay, we move closer to unlocking the underlying mechanisms of this disorder.
