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.
Anyone that has, or supports an individual with DYRK1A syndrome.
Accessible at all times through the website
Online
This is free. However, donations are welcomed
Visit the DYRK1A Syndrome website to find out more about their work
Email: dsia@dyrk1a.org
For more information about DYRK1A Syndrome search DYRK1A Syndrome in this directory.
Visit the DYRK1A Syndrome website
