title: Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.
abstract: Williams-Beuren syndrome (WBS) is a multisystem disorder that requires ongoing management by a primary care physician familiar with the natural history and specific medical problems associated with the condition. While the natural history of the disease during infancy is well known, data about the adult WBS population have been published only in the last few years, and show a wide range of medical, neurological, and psychiatric problems. We investigated 45 young adult WBS patients (mean age 23 years, range 17-39 years) using a well-coordinated team which included a cardiologist, a nephrologist, an ophthalmologist, an endocrinologist, a gastroenterologist, orthodontist, and orthopedist. Here we describe the clinical features and medical complications in this cohort of patients. Most patients demonstrated a high frequency of multiple organ systems complications, in particular, abnormal body habitus; cardiovascular disease, and hypertension; sensorineural hearing loss; gastrointestinal symptoms including diverticular disease and abnormal glucose tolerance. We offer some suggestions for clinical monitoring which we propose will be useful in the overall care of adults with WBS.
authors.affiliation: UOD di Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. m.bedeschi@policlinico.mi.it
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: Vera
authors.initials: V
authors.lastname: Bianchi
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Colli
authors.forename: Federica
authors.initials: F
authors.lastname: Natacci
authors.forename: Anna
authors.initials: A
authors.lastname: Cereda
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Silvia
authors.initials: S
authors.lastname: Maitz
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000328:Adult; D003935:Diagnostic Techniques, Cardiovascular; D003940:Diagnostic Techniques, Endocrine; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D018980:Williams Syndrome / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology*