Dyslexia: Breaking Down the Myths
Learn about dyslexia, its genetics, and effective support methods.
Krzysztof Marianski, Joel B. Talcott, John Stein, Anthony P. Monaco, Simon E. Fisher, Dorothy V.M. Bishop, Dianne F. Newbury, Silvia Paracchini
― 6 min read
Table of Contents
Dyslexia is a common condition that affects how people read. It's not due to any sensory problems like poor eyesight, nor does it happen because of a lack of education or neurological issues. Instead, dyslexia is a neurodevelopmental condition linked to how the brain processes written language. It can make reading a real challenge for around 5% to 10% of children, no matter where they come from or what language they speak. Interestingly, it tends to show up more in boys than in girls—about three to five times more often in males.
Why is Dyslexia a Big Deal?
Imagine learning to ride a bike but with one tire always flat. That's how it feels for many with dyslexia when it comes to reading. They can try harder than others, but it can still be tough. This condition often comes along with other challenges such as language difficulties or attention problems, making it even more complicated.
Understanding dyslexia is crucial because it impacts not just reading but also the way children learn in general. With the right support and teaching methods, kids with dyslexia can still thrive. Parents, teachers, and society play a big role in helping them succeed.
The Genetics of Dyslexia
There’s some strong evidence that dyslexia runs in families. If a child has dyslexia, research suggests there’s a good chance that a parent or sibling does too. Studies looking at twins show that the genetic link to dyslexia can be as high as 70%. This means that researchers are on the lookout for specific genes that might be involved in dyslexia.
However, finding these genes has been tricky. A lack of large enough groups for study, combined with varying ways of diagnosing dyslexia, has made it hard for scientists to link genetics directly to the condition. Some initial studies have pointed to a few genes, but the results have not always been consistent.
A New Study Makes Waves
Recently, a large-scale study gathered data from over 50,000 people diagnosed with dyslexia. This groundbreaking work used direct-to-consumer genetic testing services to identify various genetic areas that might be linked to reading difficulties. They found 42 regions of interest in the genome, half of which seemed to connect specifically to dyslexia while the other half were tied to general brain functions.
From this giant study, scientists reported findings that could change how we think about dyslexia. They generated polygenic scores—essentially a way of predicting how likely a person might be to have dyslexia based on their genes. This promises a more tailored approach to understanding and potentially treating dyslexia in the future.
The Role of Rare Genetic Variants
While most of the research so far has focused on common genetic markers, there’s a growing interest in rare genetic variants. These are like the hidden gems in our genetic material that could also contribute to dyslexia. Other neurodevelopmental issues like autism and schizophrenia have been studied for their connections to rare variants, leading researchers to think dyslexia might follow the same pattern.
In one recent test, researchers looked closely at 53 individuals with dyslexia and analyzed their genetic data. They found several rare variants in five specific genes. One gene, CLDN3, caught their attention because a peculiar variant was found in multiple cases. This gene plays an important role in how different parts of the brain communicate and function.
What Do These Genes Do?
So, what exactly are these five genes doing? Let's break down the most interesting ones:
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CLDN3: This gene is involved in forming connections between brain cells. The specific variant identified causes a change in a critical part of the protein it produces. If that protein doesn’t work right, it could lead to issues in how signals are sent in the brain.
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CACNA1G and CACNA1D: These are part of a family of genes called voltage-gated calcium channels. These genes are vital for many brain functions, helping cells communicate and send signals. Changes in these genes have been associated with other brain-related conditions.
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CNGB1: This gene is involved in the eye and helps us see. Oddly enough, it seems to also play a part in dyslexia. While its main job is related to how we perceive light, its role in reading difficulties is an exciting area for more study.
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CP: This gene has a role in handling copper in the body. Although it isn’t primarily associated with reading skills, it could have some indirect effects due to how minerals affect our brains.
The Challenge of Diagnosing Dyslexia
One of the biggest hurdles is that diagnosing dyslexia is not always straightforward. Schools and parents often have to rely on subjective tests and reports, which can lead to inconsistencies. Not every child with reading difficulties has dyslexia, and not every dyslexic child performs poorly on standardized tests.
To make things trickier, other conditions can also affect reading skills, making it hard to determine what’s causing the challenge. Children may have language delays, attention issues, or other disorders that can complicate their ability to read.
How Can We Help?
The good news is that with the right support, kids with dyslexia can learn to read and succeed in school. Teachers and tutors who know how to adapt their teaching methods can make a huge difference. Here are a few strategies that can help:
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Structured Literacy Programs: These focus on systematic instruction in reading, writing, and spelling. Programs that emphasize phonemic awareness and phonics can be particularly beneficial.
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Assistive Technology: Tools like speech-to-text software or audiobooks can help make reading less frustrating.
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Tailored Learning Plans: An individualized education plan can address specific challenges and set realistic goals for improvement.
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Encouragement and Understanding: Building a supportive environment is crucial. Children need to know that it’s okay to struggle and that they have people cheering for them.
Looking Ahead: More Research Needed
As the research continues, scientists are keen to gather more data. They want to piece together the complex puzzle of dyslexia. Understanding the role of rare variants, and how they interact with other factors in a person’s life, is an essential part of the quest.
With advancements in genetic studies and better understanding of brain function, we may soon see more tailored approaches to help those with dyslexia. These efforts could lead to better resources, therapies, and understanding of the condition in general.
Conclusion: Celebrating Differences
Dyslexia is just one of the many ways our brains can vary. While it comes with challenges, it's also important to remember that many people with dyslexia go on to achieve great things. With awareness, understanding, and the right support, individuals with dyslexia can thrive and succeed in their own unique ways.
So, the next time you meet someone who reads a bit differently, just remember—they might be navigating the world while looking through a different lens. And that’s perfectly okay!
Original Source
Title: Whole-exome sequencing in children with dyslexia identifies rare variants in CLDN3 and ion channel genes
Abstract: Dyslexia is a specific difficulty in learning to read that affects 5-10% of school-aged children and is strongly influenced by genetic factors. While previous studies have identified common genetic variants associated with dyslexia, the role of rare variants has only recently begun to emerge from pedigree studies and has yet to be systematically tested in larger cohorts. Here, we present a whole-exome sequencing (WES) study of 53 individuals with dyslexia, followed by replication analysis in 38 cases with reading difficulties and 82 controls assessed with reading measures. Our stringent bioinformatics filtering strategy highlighted five brain-expressed genes carrying rare variants: CACNA1D, CACNA1G, CLDN3, CNGB1, and CP. Notably, a specific variant (7-73769649-G-A) in the CLDN3 gene was identified in six independent cases, showing a four-fold higher frequency compared to population reference datasets. CACNA1D and CACNA1G encode subunits of voltage-gated calcium channels (VGCC) expressed in neurons, and variants in both genes have been implicated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and epilepsy. Segregation analysis in available family members were consistent with patterns of dominant inheritance with variable expressivity. In total, high-impact variants in the five genes of interest were found in 26% (N = 14) of individuals of the discovery cohort. Overall, our findings support the involvement of rare variants in developmental dyslexia and indicate that larger WES studies may uncover additional associated genes.
Authors: Krzysztof Marianski, Joel B. Talcott, John Stein, Anthony P. Monaco, Simon E. Fisher, Dorothy V.M. Bishop, Dianne F. Newbury, Silvia Paracchini
Last Update: 2024-12-20 00:00:00
Language: English
Source URL: https://www.medrxiv.org/content/10.1101/2024.12.19.24319320
Source PDF: https://www.medrxiv.org/content/10.1101/2024.12.19.24319320.full.pdf
Licence: https://creativecommons.org/licenses/by/4.0/
Changes: This summary was created with assistance from AI and may have inaccuracies. For accurate information, please refer to the original source documents linked here.
Thank you to medrxiv for use of its open access interoperability.
Reference Links
- https://www.genlang.org/
- https://github.com/lh3/bwa
- https://broadinstitute.github.io/picard/
- https://www.htslib.org/
- https://www.ncbi.nlm.nih.gov/clinvar/
- https://panelapp.genomicsengland.co.uk/
- https://rdrr.io/bioc/GeneOverlap/
- https://fuma.ctglab.nl/
- https://github.com/kmarianski/DyslexiaWES_CLDN3