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<span>FOXP2-related speech and language disorder</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/foxp2-related-speech-and-language-disorder/</span>
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<h1>FOXP2-related speech and language disorder</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p><em>FOXP2</em>-related speech and language disorder affects the development of speech and language beginning in early childhood. Affected individuals have a condition known as childhood apraxia of speech (CAS), which makes it difficult to produce the sequences of sounds and syllables needed to form words. CAS is caused by abnormalities in the parts of <a class="image-modal" data-alt="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-caption="Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001ZR_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001ZR" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9118" data-title="Parts of the brain, internal" href="https://medlineplus.gov/images/PX0001ZR_PRESENTATION.jpeg" id="PX0001ZR_1" title="Show image">the brain<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> that plan and coordinate the movements of the lips, mouth, and tongue. Children with <em>FOXP2</em>-related speech and language disorder say their first words later than other children, typically between 18 months and 7 years of age. Their speech is often difficult to understand, although the clarity of speech usually improves over time.  </p><p>In addition to having problems with producing speech (expressive language), people with <em>FOXP2</em>-related speech and language disorder may have difficulty understanding speech (receptive language). Some affected individuals also have trouble with other language-related skills, such as reading, spelling, and grammar. </p><p>Less commonly, individuals with <em>FOXP2</em>-related speech and language disorder have features of <a data-tid="153" href="https://medlineplus.gov/autismspectrumdisorder.html">autism spectrum disorder</a>, which is a condition characterized by impaired social skills and communication problems. Some affected individuals have difficulty with motor skills such as walking, writing, or buttoning clothes, but these typically improve with treatment. Some affected individuals may have learning difficulties. </p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p><em><a data-pid="19697" href="https://medlineplus.gov/genetics/gene/foxp2/">FOXP2</a></em>-related speech and language disorder is a rare disorder, although its exact prevalence is unknown. CAS affects approximately 1 to 2 in 1,000 people, but it is thought that <em>FOXP2</em>-related speech and language disorder accounts for only a small portion of these cases.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Variants (also called mutations) in the <a data-pid="19697" href="https://medlineplus.gov/genetics/gene/foxp2/"><em>FOXP2</em></a> gene cause <em>FOXP2</em>-related speech and language disorder. The <em>FOXP2</em> gene provides instructions for making a protein that acts as a transcription factor, which means that it controls the activity of other genes. Researchers suspect that this protein plays an important role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. </p><p>In people with <em>FOXP2</em>-related speech and language disorder, variants in the <em>FOXP2</em> gene cause cells to produce an abnormal version of the FOXP2 protein that does not function properly. Because the FOXP2 protein is a transcription factor, changes in the protein's activity affect the activity of other genes in the developing brain. Researchers suspect that many of the genes targeted by the FOXP2 protein play important roles in brain development and the connections between neurons. </p><p>The <em>FOXP2</em> gene is one of the genes found on chromosome 7. When large deletions or rearrangements of genetic material on this chromosome affect the <em>FOXP2</em> gene and neighboring genes, it can cause a disorder known as <em>FOXP2</em>-plus-related speech and language disorder. Because other genes are involved, individuals with <em>FOXP2</em>-plus-related speech and language disorder are more likely to have features such as developmental delays and autism spectrum disorder than individuals who only have a variant in the <em>FOXP2</em> gene. </p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with FOXP2-related speech and language disorder</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/foxp2/">FOXP2</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p><em>FOXP2</em>-related speech and language disorder is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 50 percent of cases, the condition results from a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.</p>
<p>The inheritance of <em>FOXP2</em>-plus-related speech and language disorder is more complex and depends on the specific genetic change.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Speech and language disorder with orofacial dyspraxia</li> <li>Speech-language disorder 1</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0750927/" target="TheNewWin">Genetic Testing Registry: Childhood apraxia of speech</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/12889/index" target="TheNewWin">Isolated childhood apraxia of speech</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/602081" target="TheNewWin">SPEECH-LANGUAGE DISORDER 1; SPCH1</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28FOXP2%5BTI%5D%29+AND+%28speech%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
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<li>Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L,
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1;140(5):509-14. doi: 10.1002/ajmg.a.31110. <a href="https://pubmed.ncbi.nlm.nih.gov/16470794" target="TheNewWin">Citation on PubMed</a></li>
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