Bone mineral density in angelman syndrome.

Abstract

Our aim was to evaluate bone mineral densitometry in patients with Angelman syndrome with or without antiepileptic therapy. Eighteen patients (9 females, 9 males), aged 4.0-24.3 years (mean age, 10.1 years), and two control groups consisting of 18 epileptic and 24 healthy patients, underwent dual-energy X-ray absorptiometry at the lumbar spine (L(1)-L(4)), and z score was evaluated for each patient; the t score was considered for patients aged > or = 18 years. Abnormal bone mineral density was present in 8/18 (44.5%) of patients with Angelman syndrome, in 7/18 (38.9%) of the epileptic group, and in none of the healthy controls. Furthermore, a significant difference regarding mean age of patients (6 versus 15 years, P = 0.008, by Fisher exact test), and mean length of drug treatment (3.5 versus 11.1 years, P = 0.005 by Fisher exact test), appeared in the group with Angelman syndrome. Most of these patients (94.4%) were receiving antiepileptic drugs, mainly valproic acid, for many years. In conclusion, our study revealed osteopenia in almost half the children and young patients with Angelman syndrome. Dual-energy X-ray absorptiometry should be performed in all patients with Angelman syndrome, particularly if they are treated with antiepileptic drugs.

• Authors: Giangennaro Coppola, Alberto Verrotti, Ciro Mainolfi, Gianfranca Auricchio, Delia Fortunato, Francesca Felicia Operto, Antonio Pascotto
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 37 Issue 6 Pg. 411-6 (Dec 2007) ISSN: 0887-8994 [Print] United States
• PMID: 18021922 (Publication Type: Journal Article)

Topics

• Absorptiometry, Photon (methods)
• Adolescent
• Adult
• Angelman Syndrome (physiopathology)
• Bone Density (physiology)
• Child
• Child, Preschool
• Epilepsy (physiopathology)
• Female
• Humans
• Male