How can I find out if my child has a KAT6A gene mutation?
KAT6A gene mutations can be found using a test called Whole Exome Sequencing. You should discuss this option with a geneticist and genetic counselor. This test may give you the answers to your child’s developmental delays and/or health conditions.
My child was just diagnosed with KAT6A, what medical steps should I take?
It is recommended that every individual should see a cardiologist to rule out any structural heart problems. It is also important to have vision assessed by a specialist. If your child does not already receive speech therapy, it is important to start now.
Is there a support group for families with KAT6A?
Yes! Please join our KAT6A Support Group on
if a loved one has been diagnosed. Our support group is strictly for family members of KAT6A individuals and is a safe place to share.
What causes KAT6A?
KAT6A syndrome arises from a spelling mistake in the KAT6A gene. The majority of KAT6A mutations are de novo, meaning that it was a new change in the gene, not inherited from either parent and there is nothing either parent could have done to prevent this.
What treatments are available?
Currently doctors are treating the symptoms related to KAT6A on an individual basis, but there is no medication for KAT6A specifically. Your child may require medication to help control constipation, acid reflux, behavioral issues, sleep disturbances and other health problems caused by KAT6A. Some parents have observed benefits from vitamins and supplements. You can learn more about these supplements by joining our support group on Facebook. It is essential to consult your child’s physician before starting any new supplements.
What therapies should my child be getting?
Every individual is different, but many in the KAT6A community receive a wide variety of therapies as children to aid in their development.
Physical therapists help improve gross motor development, which is typically delayed in our children due to abnormal muscle tone and poor coordination .
Occupational therapists work on fine motor activities required for daily living.
Speech therapists work with our children in developing speech production, receptive language, signs and vocalizations. Many KAT6A children have apraxia and struggle with the motor planning required for fluent speech.
ABA therapy can be a successful method for children who have autism.
Feeding therapists work with children with feeding difficulties. Many KAT6A children have feeding delays due to hypotonia and acid reflux, and others have structural damage that require feeding tubes.
Vision therapy is beneficial for individuals with CVI (Cortical Visual Impairment) or strabismus.
Special education accomodations will likely be required for your child. Individuals with KAT6A have a wide range in intellectual ability, so it is impossible to predict how your child’s needs will need to be met in school. Early intervention programs may offer a special educator starting at birth if cognitive delays are present.
Various alternative therapies may benefit your child, such as: aquatic therapy, music therapy, sensory therapy, equine-assisted therapy, and bio-feedback.
How many people have KAT6A?
As of November 2017, approximately 100 people have been diagnosed, but we believe many more individuals will be identified as whole exome sequencing becomes more common.
Where are KAT6A individuals living around the world?
KAT6A individuals have been identified in many countries including: Argentina, Australia, Belgium, Canada, Chile, China, Dominican Republic, England, Finland, France, Germany, Ireland, Israel, Japan, Netherlands, Norway, Scotland, Spain, Sweden, United States and Venezuela.
Is there a summary of KAT6A that I can print?
Unique created this helpful handbook for families and medical specialists.
What is the life expectancy for KAT6A individuals?
At this time, medical professionals believe that KAT6A individuals have a typical life expectancy and that this rare disorder is not degenerative. Currently the oldest individual diagnosed is in his 30’s. We will learn more about the progression of KAT6A as more adults are identified.
Will my child learn to talk?
All KAT6A individuals have language delays. Yet, there’s a wide range in language ability in this group. Some children are nonverbal and communicate through signs, body language or adaptive technology. Others are verbal teens and adults despite language delays as young children. Many parents report that their children have markedly better receptive language than expressive language.
What is the likelihood that I could have another child with KAT6A syndrome?
In de novo KAT6A gene mutations, there is a 1% risk of KAT6A syndrome reoccurring for the same parents.
ASK YOUR QUESTION.
©  · KAT6A Foundation.
Type and press Enter to search