title: Presenting symptoms in adults with the 22q11 deletion syndrome.
abstract: A definitive molecular diagnosis of 22q11 Deletion Syndrome (22q11DS) even if occurring later in life, has important genetic, medical and emotional impact on the patients and their families. The aim of this study is to describe presenting symptoms and age at diagnosis in an adult 22q11DS population. A retrospective study was performed on 65 individuals diagnosed with 22q11DS at adult age. Data were collected on adults referred to the genetic clinic or actively recruited through systematic diagnostic examination in both institutions and a psychiatric unit for intellectually disabled. Presenting symptoms were categorized into seven groups: familial occurrence, intellectual disability, cardiac anomalies, palatal anomalies, facial dysmorphic features, psychiatric problems and 'other' (comprising all other features associated with 22q11DS). Age at diagnosis was defined as the age at which the 22q11.2 deletion was detected by fluorescence in situ hybridization or comparative genomic hybridization. Ascertainment subgroups were different in presenting symptoms and age at diagnosis. Adults were referred to the genetic clinic mainly because of familial occurrence, cardiac defects and psychiatric disorders whereas adults diagnosed in institutions for intellectually disabled presented mainly with moderate to severe intellectual disability and psychotic disorders. Adults diagnosed at the psychiatric unit for intellectually disabled had a variety of psychiatric disorders but none of them had additional physical features. This emphasizes the need to stay alert for presenting symptoms such as conotruncal heart defects or moderate to severe intellectual disability in combination with a history of psychiatric disorders, even in the absence of obvious physical features.
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium. Electronic address: Annick.Vogels@uzleuven.be.
authors.forename: Annick
authors.initials: A
authors.lastname: Vogels
authors.affiliation: Department of Psychiatry, University Hospitals, Leuven, Belgium.
authors.forename: Sara
authors.initials: S
authors.lastname: Schevenels
authors.affiliation: Sint-Kamillusziekenhuis, Bierbeek, Belgium.
authors.forename: Richard
authors.initials: R
authors.lastname: Cayenberghs
authors.affiliation: Sint-Kamillusziekenhuis, Bierbeek, Belgium.
authors.forename: Eddy
authors.initials: E
authors.lastname: Weyts
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium.
authors.forename: Griet
authors.initials: G
authors.lastname: Van Buggenhout
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium.
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium.
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium.
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.affiliation: Department of Psychiatry, University Hospitals, Leuven, Belgium.
authors.forename: Pieter
authors.initials: P
authors.lastname: Corveleyn
authors.affiliation: Center for Human Genetics, KU Leuven, Belgium.
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010159:Palate / Q000002:abnormalities; D011618:Psychotic Disorders / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
keywords: 22q11 Deletion syndrome; Adults; Age at diagnosis; Intellectual disability; Presenting symptoms; Psychiatry