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Autism has been on a steady rise, and scientists and doctors are working together to find ways to detect it early. Why? Because early intervention leads to better results for babies. Although there are well known behavioral signs of autism in babies, we lack a definite test early on. But the researchers at the University of California have come up with a breakthrough study. The research, led by renowned scientists Eric Courchesne and Alysson Muotri, shows:

How one can use stem cells from babies to diagnose autism early on

Although the study points to diagnosis, the study is set to change how we screen stem cells for future autistic traits. The study has used tiny 3D brain models formed using the stem cells. The striking correlation was between brain overgrowth and autism severity. This can be one of the potential pathways for early identification. The new parents do not have to keep an eye on the signs of autism in toddlers. They can use this as a means to understand whether they will develop what level of autism. We will discuss the results and how these results would translate into diagnosis and help in curating stem cell therapy for autism. As we delve deeper into the new finding, we will see how this research is set to point towards the earliest biological markers that may indicate autism.

The Role of Cortical Organoids in Autism Research

FIgure 1: Phase contrast microspic image of neural organoids. (PMID: 31666641)

FIgure 1: Phase contrast microspic image of neural organoids. (PMID: 31666641)

Before we jump into the research, let’s familiarize ourselves with what organoids are. These are small 3D structures that use stem cells. Stem cells are extracted from the individual body, and then they are given nutrition and time to grow. After a few days and under proper signaling, they form small spheres. These spehere in cortical organoids behave as mini brains in the petri dish. But they are not actually brains but miniature versions of brains that stem cells can manage in petri dishes. They are usually round in shape and look like pepples under a microscope. We are sharing an image of organoids in figure 1.

Now imagine if we take out like a few thousand stem cells from the large pool a toddler has; we can let this grow. Now, this is something similar to us extracting blood for a test. Then study the organoids that are formed.

 

The Study

In the University of California study, they cultivated stem cells from 10 autistic toddlers and compared them with those derived from non-autistic children. The research showed a striking feature. When seen under a microscope, they saw that the organoids formed from the autistic toddlers were 39 percent larger on average than normal toddlers. (Figure 2)

FIgure 2 Organoids derived from the stem cells of autistic toddlers

Figure 2 Organoids derived from the stem cells of autistic toddlers (first and third rows from the top) grow significantly larger than those from non-autistic toddlers (second and fourth rows).

Now the size increase was not the only surprise they saw. They also went on to see that in the child who had the most severe form of autism, their stem cells formed the largest organoids. Researchers in an interview have pointed this out: “You could tell which [organoid] was which just by looking at them. It was quite obvious.”

The study also found that organoid size corresponded with specific autism traits, with the largest spheres forming in children who scored lowest on tests measuring social interaction, language, and cognitive abilities. This link could give parents important early clues about the “signs of autism in babies.” As for researchers, it gives insight into how brain development impacts later social and cognitive skills.

How Brain Size Relates to Autism Traits

Previous research has noted that some babies later diagnosed with autism have larger-than-average head sizes during fetal development. This new study confirms that early brain overgrowth, which characterize an excess of neurons, may disrupt how neural circuits develop, potentially contributing to the social and cognitive challenges frequently seen in autism. According to Courchesne, brain imaging has revealed that toddlers with severe autism exhibit up to 50 percent more brain overgrowth in regions tied to language, sensory processing, and social interactions compared to non-autistic toddlers.

For parents, recognizing such overgrowth may provide a vital early sign that a child is developing autism. Monitoring growth, head size, and early neurological development may become important in identifying the signs of autism in toddlers.

Combining these insights with existing tests is bound to make it clear whether a child has autism or not. Observing head size and brain growth in addition to routine developmental checks can be a window into understanding autism’s progression from its earliest stages.

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The Importance of Early Detection

One of the most significant contributions of this research is its potential for improving early detection of autism, something that has long been a challenge for parents and pediatricians alike. Detecting the signs of autism in babies or even recognizing the signs of autism in toddlers can sometimes be difficult without clear markers. However, this study suggests that brain overgrowth may serve as an early warning signal for more severe forms of the disorder.

By identifying autism traits early on, parents could begin interventions much sooner, which could improve long-term outcomes for their children. Early interventions such as speech therapy, behavioral therapy, and occupational therapy shows to be significantly benefit communication and social skills in children with autism. Even there are studies that are showing the use of stem cell therapy also helps.

Most of the time, parents have the most simple question:

How do you know if the stem cells that you are giving our child are not going to exacerbate the existing autism traits?

Well, this study has shown us a way that can easily become a routine check to ensure the safety of stem cells. Although more research is still needed to ensure the results are consistent across the board. But it does present itself as an option open to parents who are thinking of stem cell therapy for their child.

Limitation of study and what to do further

While the findings of this study are groundbreaking, experts that authored the study urge caution in drawing definitive conclusions. The relatively small sample size of 15 children (10 autistic and 5 non-autistic) means that larger studies are necessary to confirm these results. Moreover, as Tomasz Nowakowski, co-author of the study, pointed out, the study establishes a correlation but does not yet show that brain overgrowth causes autism directly.

However, the use of organoids represents a powerful new tool for understanding how autism affects brain development. As Muotri’s and Courchesne’s teams scale up their studies, they aim to explore how other brain cells—such as microglia and excitatory neurons—contribute to the social and cognitive challenges in autism.

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What This Means for Parents

For parents of autistic children or those monitoring potential signs, this study offers both hope and actionable insights. Recognizing potential autism traits early could allow for more timely interventions, and brain size could serve as a measurable factor in assessing the likelihood of a child developing more severe forms of autism. As researchers continue to explore how brain overgrowth and neuronal activity contribute to autism, future diagnostic tools could be developed based on these biological markers, giving parents clearer insight into identifying the signs of autism in toddlers.

Currently, most autism diagnoses rely on behavioral signs, such as a child’s lack of eye contact, delayed speech, or social withdrawal. However, these signs often manifest only when a child is a toddler. In contrast, biological markers offering a significant advantage to parents seeking to identify early autism traits. Monitoring growth could help to detect the signs of autism in babies before traditional behavioral symptoms are evident.

Conclusion: A New Frontier in Autism Research

For parents of autistic children, this research provides new hope. It underscores the importance of early monitoring of head size and brain growth as potential markers of autism. This study is first to represent an essential step toward understanding the biology of autism and how early interventions can design to support children from the moment early signs appear.

By identifying the biological roots of autism, researchers can offer parents not only answers but also practical steps to help their children thrive. These findings could help doctors identify the signs of autism in toddlers and babies earlier than ever before, potentially improving outcomes through earlier intervention and more personalized treatments.

You can read the complete study at: https://doi.org/10.1186/s13229-024-00602-8

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