Document Detail

Bone mineral density in angelman syndrome.
MedLine Citation:
PMID:  18021922     Owner:  NLM     Status:  MEDLINE    
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.
Giangennaro Coppola; Alberto Verrotti; Ciro Mainolfi; Gianfranca Auricchio; Delia Fortunato; Francesca Felicia Operto; Antonio Pascotto
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  37     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-20     Completed Date:  2008-02-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  411-6     Citation Subset:  IM    
Clinic of Child Neuropsychiatry, Second University of Naples, Naples, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Absorptiometry, Photon / methods
Angelman Syndrome / physiopathology*
Bone Density / physiology*
Child, Preschool
Epilepsy / physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
Next Document:  Delayed myelination at the onset of cryptogenic West syndrome.