Publications by authors named "Helene Deleersnyder"
Article Synopsis
- Smith-Magenis syndrome (SMS) is primarily caused by a deletion on chromosome 17p11.2 or mutations in the RAI1 gene, affecting patients with characteristic features such as neurodevelopmental disorders and sleep issues.
- In a study of 47 European patients, it was found that while most had normal growth, a significant number experienced obesity, heart defects, and common vision and hearing problems, with obesity being reported in 60% of those over 10 years.
- All patients had learning difficulties, with a wide range of intellectual disabilities and challenging behaviors like tantrums and sleep disturbances, highlighting the need for comprehensive care and parental adjustments to support their educational needs.
