title: 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.affiliation: Clinic of Child Neuropsychiatry, Second University of Naples, Naples, Italy. giangennaro.coppola@unina2.it
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Ciro
authors.initials: C
authors.lastname: Mainolfi
authors.forename: Gianfranca
authors.initials: G
authors.lastname: Auricchio
authors.forename: Delia
authors.initials: D
authors.lastname: Fortunato
authors.forename: Francesca Felicia
authors.initials: FF
authors.lastname: Operto
authors.forename: Antonio
authors.initials: A
authors.lastname: Pascotto
mesh_terms: D015502:Absorptiometry, Photon / Q000379:methods; D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000503:physiopathology*; D015519:Bone Density / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male