title: Diagnostic approach of angelman syndrome.
abstract: BACKGROUND
  Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder. It is caused by a variety of genetic mechanisms which all interfere with expression of the UBE3A gene on chromosome 15q11-13.
  
  
  OBJECTIVE
  To present our experience regarding diagnosis of children with Angelman syndrome.
  
  
  METHODS
  15 children were clinically and genetically diagnosed with AS in the Department of Pediatric Neurology of the "Prof. Dr. Alex. Obregia" Clinical Hospital. In all cases, diagnosis of AS was made by the clinical criteria. The clinical evaluation focused on the patient history, a general examination, dysmorphological evaluation, a neurological examination, psychological evaluation, and paraclinical tests.
  
  
  RESULTS
  All patients from this study presented the characteristic facial features and the characteristic behavior phenotype. Psychomotor development was delayed in all children, most of cases (73%) presenting with sever mental retardation. Epileptic seizures were observed in all patients with microdeletion, the partial seizures being the most frequent type. EEG in all children showed the characteristic pattern for AS.
  
  
  CONCLUSIONS
  Angelman syndrome is a rare and severe neurodevelopmental disorder, with a complex clinical picture. There are some characteristic facial features, which, in association with hypopigmentation, happy disposition, jerky movements, and ataxia in a child with psychomotor delay should raise the strong suspicion of AS.
authors.affiliation: "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
authors.forename: Denis George
authors.initials: DG
authors.lastname: Duca
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.
authors.forename: Dana
authors.initials: D
authors.lastname: Craiu
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.
authors.forename: Monica
authors.initials: M
authors.lastname: Boer
authors.affiliation: "Victor Babes" National Institute of Pathology, Bucharest, Romania.
authors.forename: Sorina Mihaela
authors.initials: SM
authors.lastname: Chirieac
authors.affiliation: "Victor Babes" National Institute of Pathology, Bucharest, Romania.
authors.forename: Aurora
authors.initials: A
authors.lastname: Arghir
authors.affiliation: "Victor Babes" National Institute of Pathology, Bucharest, Romania.
authors.forename: Andreea
authors.initials: A
authors.lastname: Tutulan-Cunita
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.
authors.forename: Diana
authors.initials: D
authors.lastname: Barca
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.
authors.forename: Catrinel
authors.initials: C
authors.lastname: Iliescu
authors.affiliation: "Victor Babes" National Institute of Pathology, Bucharest, Romania.
authors.forename: Agripina
authors.initials: A
authors.lastname: Lungeanu
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania.
authors.forename: Sanda
authors.initials: S
authors.lastname: Magureanu
authors.affiliation: "Prof. Dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania ; "Victor Babes" National Institute of Pathology, Bucharest, Romania.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Budisteanu