“By the Book” care arrives: International clinical guideline published for Kleefstra syndrome

A brand-new paper published in Genetics in Medicine titled “International Clinical Evidence based Guideline for Kleefstra Syndrome,” represents the first standardized set of clinical recommendations and evidence aimed at doctors, geneticists, and families dealing with Kleefstra syndrome. The consensus guideline is meant to summarize current knowledge and help guide diagnosis, care, and long-term support for people with Kleefstra syndrome.

“This is a landmark publication for all people living with Kleefstra syndrome and their caregivers” said IDefine CSO Eric Scheeff. “Because KS is rare, many doctors have struggled to know all the of the tests and evaluations they should order, and what they should watch out for in their KS patients. Now, they can manage the condition ‘by the book,’ because the experts have written that book!”

This guideline arises from decades of research into the clinical impact of EHMT1 variants, combined with the field expertise of many clinicians who have treated large numbers of KS patients. Critically, it also included substantial input from community representatives with family members living with KS, ensuring the voice of the community was included in the recommendations

“This is a significant accomplishment for our community,” said IDefine CEO Geoff Rhyne. “Having a guideline means clinicians worldwide are more likely to follow evidence-based recommendations, and this should improve consistency of care.

Key Takeaways from the Paper

Because Kleefstra syndrome can affect multiple systems – cognitive, motor, speech, cardiac, and more – the guideline emphasizes coordinated care across specialties including:

• Genetics and genetic counseling
• Developmental pediatrics
• Neurology (for seizures and communication challenges)
• Cardiology
• Audiology and Ophthalmology
• Therapies (speech, occupational, physical)

The paper is specific: it lists 66 discrete care recommendations that should be considered by doctors and caregivers to ensure a high standard of care is met for a person with KS. This multidisciplinary approach helps ensure that all aspects of a person’s development and health are addressed collaboratively.

In summary, the International Clinical Evidence-based Guideline consolidates decades of research into practical guidance, illuminates the biological and clinical diversity of EHMT1-related conditions, and promotes more accurate interpretation of genetic results. Most importantly, it offers families and professionals a shared roadmap for diagnosis, care, and communication about what to expect, tailored to individual genetic profiles.

IDefine recommends that KS families share this paper with their loved one’s doctors. It can be leveraged as a center of collaboration between clinicians and families to ensure the best possible outcomes for those with KS.

The paper is freely available here.