Looking ahead to the future: Novel research offers hope to Korean children with skull disorder

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Looking ahead to the future: Novel research offers hope to Korean children with skull disorder

Published: 07 Jan. 2025, 07:00 Updated: 07 Jan. 2025, 14:06

LEE SOO-JUNG
[email protected]

Audio report: written by reporters, read by AI

Five-year-old Ji-wan poses for a photograph in front of a Christmas tree during his New Year's trip with families on Jeju Island. [SEONG JUNG-EUN]

Ji-wan, a five-year-old boy, was born with Apert syndrome, but was given a chance to grow as healthy as his peers thanks to Korea’s first-ever standardized data on pediatric skull growth.

Apert syndrome is a rare genetic disorder where skulls and skeletons are abnormally attached at birth or in early childhood.

Seong Jung-eun, 41, Ji-wan's mother, said that she began worrying about her son’s health during her pregnancy after seeing a documentary about a baby with Apert syndrome. It prompted her to seek a prenatal diagnosis at a university hospital a month before childbirth. Both parents were prepared, and the infant received a reconstructive osteotomy that separated his fused fingers and toes.

However, the major problem was his skull.

The syndrome prohibits normal brain development as the skull is already fused while the brain attempts to grow in size. When left untreated, children with the disorder could have an asymmetrical face and experience cognitive and vision disorders. In the worst case, it can lead to death.

Pediatric patients with Apert syndrome usually undergo several surgeries to extend their skulls according to their brain development. Standardized data on children’s cranial shapes and sizes by age is critical in precisely tailoring patients' skulls into the right sizes to allow for unimpeded brain development.

However, Korea did not have its own health data on patients with craniosynostosis — the premature closure of the skull before full brain growth. Due to a low number of patients, no research has taken place in the country. Surgery methodologies from the medical textbooks were inapplicable to Korean patients as they were written based on data from other races.

Prof. Kim Byung-jun performs surgery to extend a pediatric patient's skull on Dec. 30, 2024. [SEOUL NATIONAL UNIVERSITY HOSPITAL]

Prof. Kim Byung-jun, specializing in plastic surgery at Seoul National University Hospital, began his study to establish standardized data on skull growth in Korean children in 2022. He also formed a cohort of domestic pediatric patients with craniosynostosis.

Prof. Kim’s research team gathered health data from 1,000 children between the ages of zero and 10 with the help of Kyungpook National University, Pusan National University, Jeonbuk National University and the Seoul National University School of Dentistry.

After three years, the professor’s team completed the work of refining standardized data of Korean children’s craniums — the first of its kind in the nation. Prof. Kim said his team has created an "unprecedented data" package of pediatric cranial development as there was no available health data other than cranial circumference.

Prof. Kim said his team produces samples of cranial bones using a 3-D printer a day before the surgery and runs a simulation on how to incise and move parts of cranial bones in accordance with the standardized data.

Although a single skull sample costs over 1 million won ($681), 300 billion won worth of funds donated by late Samsung Chairman Lee Kun-hee’s family has reduced the financial burden. Kim also noted that the fund enabled multi-institutional medical research for children with rare diseases.

A total of 14 pediatric patients have become beneficiaries so far, including Ji-wan.

Seong, his mother, expressed endless gratitude to the medical effort and the fund, adding that her son is growing up well with normal vision and cognitive ability and only a slight lag in linguistic capability.

BY RHEE ESTHER [[email protected]]