Wulandari, Dyah and Pratiwi, Alberta Rika and Retnaningsih, Christiana and Nugraheni, Bernadia Linggar Yekti and Dewi, Trihoni Nalesti (2024) Community Knowledge of Cornelia de Lange Syndrome (CdLS) as a Basis for Socialization, Early Intervention, Reducing Stigma, and Providing Support for Affected Families. In JUST INDONESIA Free from Discrimination & Violence: Gender, Ecology, and Media. In: Community Knowledge of Cornelia de Lange Syndrome (CdLS) as a Basis for Socialization, Early Intervention, Reducing Stigma, and Providing Support for Affected Families. Cantrik Pustaka, pp. 124-137. ISBN 978-623-139-082-0

Preview

Text JUST INDONESIA BOOK (book chapter).pdf Download (7MB) | Preview

Abstract

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder affecting 1 in 10,000 to 30,000 people worldwide, characterized by growth retardation, distinctive facial features, and intellectual disability. This study assesses public knowledge of CdLS in Indonesia through a 30-question online survey. Sixty-five participants responded, 36.9% men and 63.1% women, aged 17-62, with most holding a Bachelor’s Degree or higher. Results show that 60% have heard of CdLS, while 40% have not. Most (89.2%) do not have family members with CdLS, and 80% do not know anyone with family members affected. All respondents understood the general definition, but only 73.8% correctly identified signs of CdLS. Among women, 96.9% understood the nutritional needs of CdLS patients, though 3.1% did not. Overall, 95.4% of parents grasp the main challenges in caring for children with CdLS. The study concludes that while general awareness of CdLS is good, knowledge about its specific signs, symptoms, and care requirements needs improvement. Although there is no specific dietary program for those with CdLS, supplementation and proper nutrition of natural foods can help overcome some of the symptoms and related health problems. Omega-3 fatty acids, vitamin D, probiotics, and zinc are some important nutrients, while gluten, dairy products, and processed foods should be avoided. Consultation with a nutritionist or doctor is highly recommended to determine the diet that best suits the needs of individuals with CdLS. Keywords: Cornelia de Lange Syndrome, nutrition, community-based care, families as caregivers

Actions (login required)

View Item