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DYRK1A Syndrome

DYRK1A Syndrome

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:

  • What does this mean?

  • Is there anyone else out there going through what we are going through?

  • Will my child ever talk?

 

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:

  • Microcephaly (small head and brain size)

  • Low Birth Weight

  • Feeding Issues at Birth (Frequent Vomiting)

  • Speech and Language Impairment

  • Developmental Delay / Cognitive Impairment

  • Autism and/or Ritualized behaviour

  • Growth Delay

  • Unsteady gait

  • Ear Anomalies

  • Epilepsy / Seizures / Febrile Seizures

  • Chronic Constipation

  • Urogenital Anomalies

  • 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

 

Contact

Website
http://www.dyrk1a.org/

Events

Quick contact