Changes in the DRYK1A gene have been linked to intellectual disabilities, microcephaly, speech and language impairment, seizures, autism, and more. We support the children with this condition and the families that love them.
So you just found out that someone you love has DYRK1A Syndrome. Your mind is probably racing. Here are some questions you might be thinking:
Trust me, we know how you feel. We have been exactly where you are and that's why we are here. We are a small but growing community of families that care for someone with a change affecting the DYRK1A gene. The change can range from being a small change in the DNA or bigger change in the Chromosome that affects the DYRK1A gene. These changes cause a loss of function meaning one of the two DYRK1A alleles (variant forms of a gene) doesn’t function properly.
When one of the alleles doesn’t function it causes a similar set of signs and symptoms that include:
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Microcephaly (small head and brain size)
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Low Birth Weight
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Feeding Issues at Birth (Frequent Vomiting)
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Speech and Language Impairment
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Developmental Delay / Cognitive Impairment
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Autism and/or Ritualized behaviour
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Growth Delay
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Unsteady gait
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Ear Anomalies
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Epilepsy / Seizures / Febrile Seizures
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Chronic Constipation
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Urogenital Anomalies
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and More
Science is still learning about this newly identified condition.
Who is this aimed at?
Anyone that has, or supports an individual with DYRK1A syndrome.
When
Accessible at all times through the website
Where
Online
Cost
This is free. However, donations are welcomed
How to get involved
Visit the DYRK1A Syndrome website to find out more about their work
Contact details
Email: dsia@dyrk1a.org
For further information
For more information about DYRK1A Syndrome search DYRK1A Syndrome in this directory.
Visit the DYRK1A Syndrome website