A groundbreaking new publication has been released, aiming to improve patient care for individuals with Kleefstra syndrome worldwide. The first clinical guideline for the syndrome, developed by an international consortium under the umbrella of the ERN-ITHACA, is now available for use in clinical practice.
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and autism spectrum disorder, often affecting multiple organ systems and associated with various mental health and behavioral issues. Despite its complexities, syndrome-specific knowledge has been scarce and fragmented, leading to disparities in access to evidence-based care.
The new guideline addresses these challenges by providing comprehensive and evidence-based clinical recommendations across 13 topics, including genetic testing and counseling, mental health and behavior, neurology, sleep, hearing, vision, speech, language, and communication, cardiology, growth and metabolism, constipation, and parental support. The guideline is the result of a collaborative effort between (clinical) professionals, researchers, and patient representatives from 15 countries across the USA, Australia, and Europe.
The publication of this guideline marks a significant step forward in improving care for individuals with Kleefstra syndrome. By providing a standardized framework for clinical practice, it aims to reduce disparities in care and ensure that patients receive evidence-based and individual-centered expert care.
Call to Action!
Healthcare professionals can access the guideline and start implementing its recommendations in their daily practice.
Parents and caregivers can help disseminate the guideline and inform their healthcare providers about its existence.
The consortium will continue to work on translating the guideline into plain language summaries and updating it as necessary.
Access the Guideline: https://www.sciencedirect.com/science/article/pii/S1098360026003886 Link to ERN ITHACA: https://ern-ithaca.eu/