Publications by authors named "Hieltjes I"
Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.
View Article and Find Full Text PDFArticle Synopsis
- Rare genetic neurodevelopmental disorders with intellectual disabilities need continuous multidisciplinary care, and developing effective clinical practice guidelines for these conditions is challenging.
- A systematic review evaluated the quality and characteristics of 70 published guidelines addressing 28 different rare genetic intellectual disabilities, revealing inconsistent methodological rigor and stakeholder involvement.
- The study concludes that there is a need for higher-quality guidelines that involve affected individuals and families, employ sound development methods, and address implementation to improve clinical practices.