Publications by authors named "Anja De Coene"
Objectives: To compare the validity of parent-reported height, weight and body mass index (BMI) values of children (aged 4-10 years), when measured at home by means of newly developed instruction leaflets in comparison with simple estimated parental reports.
Design: Randomised controlled trial with control and intervention group using simple randomisation.
Setting: Belgian children and their parents recruited via schools (multistage cluster sampling design).
Congenital bilateral perisylvian polymicrogyria (CBPP) is the most frequent type of polymicrogyria in children. A 3-month-old male patient is described here with the combination of CBPP, infantile spasms and arthrogryposis. Only four patients have been reported earlier in the literature with this combination.
View Article and Find Full Text PDFArticle Synopsis
- Duplications and deletions in the human genome can lead to diseases, and advancements in technology now allow for their detection in many patients.
- A study focused on a specific region of chromosome 1q21.1 found a recurrent deletion in 25 patients with unexplained mental disabilities, where the deletion was absent in control subjects.
- The research indicates that these genetic changes often present with a range of symptoms and suggests that diagnosis should rely more on genetic information than on visible symptoms alone.