A three-year-old girl in Singapore has been diagnosed with Okur-Chung neurodevelopmental syndrome (OCNDS), a rare genetic condition affecting the nervous system. Identified through trio whole exome sequencing at KK Women’s and Children’s Hospital (KKH), the child is one of only three known cases in the country. Dr. Nikki Fong, a geneticist at KKH, confirms the condition stems from a spontaneous gene change, meaning the risk of recurrence in future siblings is low.
What is Okur-Chung neurodevelopmental syndrome?
OCNDS is a rare genetic condition caused by changes in the CSNK2A1 gene, which produces a protein essential for nervous system development. According to Dr. Nikki Fong, the syndrome presents as a spectrum of symptoms. These include global developmental delay, mild-to-moderate intellectual disability, decreased muscle tone, and behavioral challenges such as aggression or tantrums. Physical markers may include a smaller head, short stature, and feeding difficulties during infancy.
Did You Know? Okur-Chung neurodevelopmental syndrome was only identified in 2016 by American geneticists Volkan Okur and Wendy Chung, with the first peer-reviewed research published in the journal Human Genetics that same year.
The path to diagnosis
For Tiffany Tan and her husband Joshua Lowe, the journey to a diagnosis was lengthy. Tan first noticed her daughter, Tabitha, shaking her head at seven months old. While an initial consultation with a paediatrician ruled out seizures, Tabitha continued to lag behind developmental milestones, such as walking, which she did not achieve until age two. After relatives dismissed her concerns as typical parental anxiety, Tan sought a second opinion following suggestions from friends in the healthcare industry.
Expert Insight: The diagnostic journey of the Tan-Lowe family highlights the critical role of maternal intuition in medical advocacy. When standard pediatric screenings fail to identify underlying genetic conditions, parents often must persist through multiple specialist referrals—such as the trio whole exome sequencing used here—to secure a definitive diagnosis for rare syndromes.
Managing the condition
There is currently no cure for OCNDS. Dr. Fong explains that management is strictly symptomatic, focusing on supportive care and early intervention. Tabitha currently attends a mainstream pre-school while receiving speech, occupational, and physical therapy through the Early Intervention Programme for Infants and Children. Because her condition is considered mild, she requires ongoing monitoring for emerging neurologic manifestations, such as potential movement disorders or seizures.
What happens next for Tabitha’s education?
As Tabitha nears school age, her parents face a complex educational decision. Her mother, Tiffany Tan, notes that her daughter’s mild condition does not warrant special education, yet a mainstream environment may be too fast-paced for her needs. Consequently, Tan plans to homeschool Tabitha to help her reach her potential at a personalized pace. Before this transition, Tabitha will undergo further assessments to determine if a deferment from primary school is necessary.
Frequently Asked Questions
How common is OCNDS?
It is a rare condition estimated to affect one in every 100,000 people, with more than 370 documented cases worldwide.
Is the condition hereditary?
It can be inherited or occur as a de novo (spontaneous) change. In Tabitha’s case, doctors confirmed it was a spontaneous change, meaning her parents were not carriers.
What kind of support does a child with OCNDS need?
Management involves symptomatic support, including early intervention services, physical and speech therapy, and regular reviews to monitor for feeding issues or developmental progress.
How can families better advocate for their children when initial medical screenings do not align with their observations?
