Scoliosis in Koolen-de Vries syndrome

Koolen-de Vries syndrome (KdVS) is a multi-system condition, that was named after Dr. David Koolen and Dr. Bert de Vries, clinical geneticists from the Radboudumc. Characteristics of KdVS include developmental delay, intellectual disability, epilepsy, and congenital malformations.

Arianne Bouman, a PhD candidate from the Department of Human Genetics at Radboudumc, studied scoliosis in KdVS, which is one of the lesser-known features of the disorder.

KdVS is a conditions seen within the Radboudumc Expertise Centre on Rare Congenital Developmental Disorders. The pediatricians and physiotherapists involved noticed scoliosis in many patients, but little was known about the clinical and radiologic characteristics, age at diagnosis, progression over time, associated clinical conditions, risk factors, and therapy, hampering proper care and surveillance of KdVS patients. To fill these gaps in knowledge, Arianne Bouman, Joyce Geelen, Willemijn Klein, David Koolen and other colleagues within the Radboudumc together with an international research team studied the prevalence and radiological characteristics of scoliosis in an international cohort of KdVS patients.

The resulting article was published in the American Journal of Medical Genetics on 23 June, 2023. In the study, clinical information and spine radiographs of 54 patients were included. Scoliosis was present in 56% of participants, and curve progression was observed mainly during the growth spurt. Scoliosis was present in 65% at age 18 years and also the number of scoliotic curves per individual increased with age.

Based on the study results, clinical recommendations for screening and monitoring of scoliosis in KdVS were developed, including standard screenings for scoliosis at the age of 10 and 18 years. When scoliosis is present, follow-up should be intensified during the growth spurt, because of the expected increase in the curve magnitude.

These recommendations will be implemented in the standard follow up of patients with KdVS seen within the Radboudumc Expertise Centre on Rare Congenital Developmental Disorders and presented at the Patient Advocacy Summit on Orlando 19 - 21 July, 2023 (Patient Advocacy Summit - Koolen-de Vries Syndrome Foundation | KDVS (kdvsfoundation.org).

Publication

Bouman, A., Bouwmeester, R. N., van Vlimmeren, L. A., Burger, P., Mandel, J. L., de Vries, B. B. A., de Kleuver, M., Klein, W. M., Geelen, J. M., & Koolen, D. A. (2023). Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.63334

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