Organoid evolution:
This year has seen the emergence of ever more complex techniques for growing and analyzing brain organoids and other 3D tissue cultures.
Human cortical organoids, for example, can form functional connections in the brains of newborn rats, affecting behavior and sensation in animals, one team reported in October, citing circuit defects. prepared to study the Organoids grown from delicate single neural rosettes can capture the complexity of neural tube development, according to a study published in December. A technique for sequencing gene expression within organoids, announced in July of this year, makes it possible to determine which cell types are affected and how by genetic mutations associated with autism. Organoids with mutations in genes associated with autism could also serve as useful drug screens, scientists announced at Neuroscience 2022 in November.
Aggregates—aggregates of organoids that model how two brain regions grow in tandem—explain connectivity differences seen in people with 22q13.3 deletion syndrome and a mouse model of the condition. It can be reproduced, another team announced at Neuroscience 2022. CRISPR into aggregates can reveal which autism-related genes help direct interneuron development and migration, he reported in a November preprint.
Beyond brain organoids and aggregates, culturing multiple mouse stem cell lines together in one dish can even produce “embryoid bodies,” researchers announced in October. These models contain structures that mimic the heart and central nervous system and may pave the way for examining prenatal development in laboratory-grown human embryos.
Coordination — common and rare variants:
This year, at least six large-scale genetic studies have revealed how common and rare variants jointly influence the development and heterogeneity of autism.
Studies have shown that these variants may act additively in some cases to increase the likelihood of developing autism, but may have different effects on autistic traits. . For example, a June study found that people with autism, who have many common variants associated with the condition, tended to have few co-occurring developmental disorders, and those with rare de novo mutations. tend to have fewer common variants. Another work released at the same time. However, according to an unpublished study presented at his 2022 American Society of Human Genetics Conference in October, children with autism with language delays are typically autistic with language development. children inherit the more common variant.
Instead of acting additively, common variants and rare autism-associated deletions within the 16p chromosomal region can have similar effects on the expression of other genes within that region. Studies have shown and suggested that the cumulative effects of many common variants can sometimes be equivalent. of a rare subspecies.
Two additional studies published in August expanded the list of genes associated with autism and other developmental conditions and shed light on the role of rare genetic variants.
Understanding the Mechanisms Behind Sexual Prejudice in Autism:
Sexual prejudice in autism is one of the condition’s greatest mysteries. Researchers keep asking why boys and men are about four times more likely than girls and women to be diagnosed with autism.
A combination of factors is likely involved, but as the 2022 findings suggest, biological differences lie at the heart of this discrepancy. It may contain mutations that make it more likely, found in one study done in October. Compared to boys, girls are also less affected by common genetic variants associated with autism, another study reported in June. Also presented at Neuroscience 2022 in November. Studies show that in utero, boys tend to have patterns of cortical gene expression that are different from girls and consistent with those found in the brains of adults with autism.
However, according to a June study, sexual bias in autism is largely due to how it is diagnosed. After correcting for differences, we found that the ratio of autistic girls to autistic boys was equal.
New translation efforts:
Despite our growing understanding of the biology of autism, attempts to translate those findings into treatments have met with little success. We have taken steps to
Several companies are tackling what has long been a challenge in this space. It is to design treatments that are not hampered by the heterogeneity of idiopathic autism. Switzerland-based Staricula hopes to circumvent the disorder by using biological methods to define subgroups of people with autism and design unique treatments for each. . spectrum Reported in June. Italian startup Iama Therapeutics spectrum Profiled in October.
A treatment designed for people with a rare genetic condition associated with autism largely circumvents the problem of heterogeneity, making progress even in 2022. For example, multiple clinical trials are underway for drugs that boost the expression of key genes associated with Angelman syndrome. Treatment of the syndrome has reduced seizures in children with this syndrome. Strong relationships between researchers and family groups often drive these trials. In some cases, researchers study rare conditions in their own children. spectrum Reported in profile in July.
Severe autism:
December 2021, sponsored committee lancet formally endorsed severe autism as the term for people with autism who need around-the-clock, lifelong support. The label sparked high-profile conversations with advocates and the research community throughout 2022.
The committee “intended to draw attention to the fact that these children and adults exist and need different services,” said co-chair Catherine Lord. spectrumMany welcomed the approach, including the Autism Science Foundation, which has provided a new $35,000 grant to study severe autism, but it has been difficult to remove people with autism from the larger community. Some thought it could isolate them.
In February, he called out the term “highly problematic” in an open letter that gathered more than 20 signatures. November editorial spectrum Allison Singer, president of the Autism Science Foundation, claimed to support the term, garnering both support and resistance. However, its creation is inconsistent with the paradigm of neurodiversity and circumvents the expertise of people with autism, says developmental psychologist Sue Fletcher Watson argued in an editorial reply.
Citing this article: https://doi.org/10.53053/JWJR9206
