Understanding Autism Spectrum Disorder (ASD) in Kleefstra Syndrome: A Guide for Families

Many families within our Kleefstra syndrome (KS) community have asked questions about Autism Spectrum Disorder (ASD). To help shed some light on this important topic, we connected with experts and reviewed research supported by our partners at the Simons Foundation Autism Research Initiative (SFARI).

Kleefstra syndrome is caused by genetic changes in the EHMT1 gene. This gene plays a critical role in brain development by helping to regulate other genes through modifying proteins called histones, essential for DNA organization. Therefore, disruptions in this gene can contribute to ASD and other neurodevelopmental conditions.

We reached out to Dr. Wendy Chung, Chief of Pediatrics at Boston Children’s Hospital, to better understand the connection between SFARI-identified genes and rare genetic conditions like KS. Specifically, we were curious whether ASD can be considered a symptom of KS and how the understanding of ASD has evolved over time, given that many children with KS don’t match traditional expectations of ASD — for example, many have good eye contact.

Dr. Chung provided helpful clarity, explaining: “KS is a genetic diagnosis that can have a variety of symptoms, whereas autism is a behavioral diagnosis. These are different dimensions. Not everyone with KS has autism, and most individuals with autism do not have KS.”  She noted that autism diagnoses have become more common among KS patients, partly because the criteria for diagnosing ASD have broadened, and also because an autism diagnosis often provides families access to essential educational and therapeutic resources.

Zoë Frazier, a Licensed Genetic Counselor at Boston Children’s Hospital, added useful perspective, sharing feedback from the KS Clinic funded, in part, by IDefine: “It’s important to know that some children have autistic traits even if they haven’t had a formal ASD assessment yet, possibly due to their young age or because families haven’t pursued testing.”

It’s important for families to understand that ASD can look very different from one child to another. While some common features include challenges in social interactions, repetitive behaviors, sensitivity to sensory input, and anxiety, every child’s experience is unique. This variability means it’s crucial to create personalized interventions tailored specifically to each child’s needs.

Our ongoing partnership with SFARI continues to help unravel these genetic and behavioral complexities. Their research into genes like EHMT1 provides valuable insights, potentially guiding future treatments and interventions tailored specifically to KS.