Baseline assessments for heart, kidney, brain, and endocrine function are especially important.
• It is recommended that every individual diagnosed with a KAT6 gene variant should see a cardiologist to rule out any structural heart problems.
• Monitoring weight gain in infancy is important. Feeding difficulties and reflux are common and may need significant medical support by a gastroenterologist. Your gastroenterologist can also help manage constipation, which is a common feature.
• It is also important to have vision assessed by a specialist and monitored yearly since eye problems occur in the majority of known cases.
• If your child experiences recurrent infections, discuss with your providers an immunology workup.
• KAT6B patients should have kidney and thyroid function tested.
• Consider undergoing a sleep study if signs of sleep apnea or sleep dysfunction.
• Other tests to consider include an abdominal ultrasound, audiology evaluation, and brain MRI. Discuss these tests with your child’s pediatrician or geneticist.

There are currently no approved therapies specifically for treating KAT6 syndrome, however some treatments may help specific symptoms. Doctors treat symptoms individually, such as constipation, acid reflux, behavioral issues, seizures, or sleep disturbances.

Many parents have observed benefits from vitamins and supplements including:
• L-carnitine
• Pantothenic acid (B-5)
• Coenzyme Q10
• Vitamin E
• Vitamin C
• Cytra-3
• Others

More information on mitochondrial treatment can be found in Richard I Kelley’s GI Webinar and in his 2023 conference presentation, Treatment of Metabolic Abnormalities in KAT6A and KAT6B Syndromes. It is essential to consult your child’s physician before starting anything new.

Dr. Richard I Kelley, MD, PhD, describes different treatments for GI issues in KAT6A and KAT6B in his webinar available on the KAT6 Foundation YouTube channel.  In some cases supplements such as Cytra-3, l-carnitine and vitamin B5 can lead to significant improvements in your child’s GI pain. You can discuss these options with your child’s medical doctor.

Many children with KAT6 do learn to walk, though it often happens later than their peers. Others may move differently by using assistive equipment, wheelchairs, or alternative ways of getting around. Your child may need physical therapy or other supports to build strength and balance. Progress may come slowly, but with consistent therapy, encouragement, and patience, your child will continue to gain new skills and confidence in their own time.

Most individuals with KAT6 syndromes experience language delays, but abilities vary widely. Some children may be nonspeaking and communicate using signs, gestures, or adaptive technology, while others may become verbal teens or adults despite early delays. Many parents report that their children understand more than they can express. It’s important to support your child’s communication in all forms and maintain high expectations for their potential.

Many children with KAT6 are nonspeaking or have limited verbal language, but that doesn’t mean they can’t communicate. Speech therapy and alternative communication methods can help your child express their thoughts and connect with others. Tools such as sign language, picture boards, or speech-generating devices (known as augmentative and alternative communication, or AAC) give children a voice in their own way. It’s important to model and encourage all forms of communication: gestures, facial expressions, or technology, and to celebrate every success.

Children with KAT6 often experience developmental delays and learning differences. With early intervention, individualized education plans (IEPs), and therapy, your child can make meaningful academic progress. Every child’s strengths and challenges are unique, so learning approaches and supports should be tailored to your child’s individual needs. School supports may include classroom accommodations, a 1:1 aide, smaller learning environments, inclusive settings with supports in place, or specialized schools.

Early intervention and ongoing therapy can make a meaningful difference for children diagnosed with KAT6A or KAT6B. Because every child is unique, therapy plans should be individualized based on specific strengths and challenges.

Common therapies may include:
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‍• Physical therapy (PT)
Supports gross motor development, which is often delayed due to low muscle tone, motor planning difficulties, and coordination challenges.
‍• Occupational therapy (OT)
Focuses on fine motor skills and daily living activities such as feeding, dressing, and handwriting.
‍• Speech and language therapy
Addresses speech production, receptive language, expressive communication, and alternative communication methods such as signs or augmentative devices. Many children have childhood apraxia of speech, which affects motor planning for speech. PROMPT therapy is often recommended for children with apraxia.
‍• Feeding therapy
Helps children who experience feeding difficulties related to hypotonia, reflux, oral motor delays, or structural differences. Some children may require temporary or long term feeding tube support.
‍• Applied Behavior Analysis (ABA)
May support behavior regulation, executive functioning, communication, and adaptive skills.
‍• Orthopedic care and orthotics
Orthopedic evaluation may be helpful for children with contractures, clubfoot, scoliosis, or significant hypotonia. Some children benefit from specialized braces or orthotics to improve mobility and alignment.
‍• Vision services
Vision therapy or support services may benefit children diagnosed with cortical visual impairment (CVI) or strabismus.
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Some families also explore complementary therapies such as aquatic therapy, music therapy, hippotherapy, sensory integration therapy, biofeedback, and other supportive approaches.
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Your child’s care team can help determine which therapies are most appropriate at each stage of development.

Parents should consult with a geneticist to understand their individual likelihood and any considerations regarding future pregnancies. Most KAT6 gene changes occur for the first time in the affected child and are not inherited from either parent. In these cases, the chance of having another child with the same genetic change is low, estimated at about 2%.

In rare situations, a parent may carry the genetic change in a small number of their reproductive cells, a condition known as germline mosaicism, which can increase the chance of recurrence. Very rarely, a parent may have the KAT6 variant in all of their cells and be able to pass it on in an inherited pattern. In those cases, each child has a 50% chance of inheriting the condition.

The KAT6 Foundation is actively collecting data through the KAT6 Patient Registry to study long-term outcomes. As of 2025, the oldest known individual with KAT6A is in their 50s, and the oldest with KAT6B is in their 40s. Because KAT6 is very rare and only recently recognized, most diagnosed individuals are children, so only a small number of adults have been identified. Ongoing research will continue to improve our understanding of health, longevity, and how the syndromes progress over time.