Abstract:Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosisSummary 22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-yearold patient from Austria who was diagnosed with previously unknown 22q11.2 deletion syndrome in
“…Strikingly, anxiety disorders exhibit high prevalence rates in DiGeorge syndrome patients, which fits to our patient’s psychiatric history; however, 1–2% of patients diagnosed with schizophrenia have DiGeorge syndrome. Thus, there is consensus that genetic screening is currently not recommended in schizophrenia [ 7 ]. Fig.…”
SummaryDiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51. Since genetic testing was not available before the 1990s, there might be many over 40-year-old patients, who remained undiagnosed. Psychiatric symptoms exhibit distinctive developmental trajectories and many of these exhibit an increase in incidence during adulthood. Hence, undiagnosed adult DiGeorge patients might present in psychiatric services. As in this case, a correct diagnosis of DiGeorge syndrome in adults may help to improve treatment and outcome.
“…Strikingly, anxiety disorders exhibit high prevalence rates in DiGeorge syndrome patients, which fits to our patient’s psychiatric history; however, 1–2% of patients diagnosed with schizophrenia have DiGeorge syndrome. Thus, there is consensus that genetic screening is currently not recommended in schizophrenia [ 7 ]. Fig.…”
SummaryDiGeorge syndrome or 22q11.2 deletion syndrome is one of the most common genetic microdeletion syndromes in humans. In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51. Since genetic testing was not available before the 1990s, there might be many over 40-year-old patients, who remained undiagnosed. Psychiatric symptoms exhibit distinctive developmental trajectories and many of these exhibit an increase in incidence during adulthood. Hence, undiagnosed adult DiGeorge patients might present in psychiatric services. As in this case, a correct diagnosis of DiGeorge syndrome in adults may help to improve treatment and outcome.
ZusammenfassungDie vorliegende Arbeit bietet Einblicke in die Rolle genetischer Diagnostik bei psychischen Erkrankungen im Erwachsenenalter. Die Bedeutung genetischer Faktoren in der Entstehung psychischer Erkrankungen und seltener genetischer Syndrome bis hin zu häufigen komplex-genetischen Erkrankungen wird beschrieben. Aktuelle wegweisende klinische Merkmale bei der Indikationsstellung stellen u. a. eine Intelligenzminderung sowie Autismusspektrumstörungen und schwere psychische Erkrankungen mit bestimmten Komorbiditäten wie Organfehlbildungen oder Epilepsien dar. Es wird erläutert, wann genetische Diagnostik leitliniengerecht infrage kommt und in welchen Situationen sie auch ohne Empfehlung in den aktuellen Leitlinien in Erwägung gezogen werden sollte. Es folgt ein Überblick über das Prozedere und derzeit gängige diagnostische Methoden. Aktuelle Limitationen und mögliche Entwicklungen im Bereich genetischer Diagnostik in der Psychiatrie werden diskutiert, inklusive der Tatsache, dass für viele psychische Erkrankungen derzeit keine genetische Diagnostik in der Klinik angestrebt werden soll. Zusammenfassend sollten in der Praxis jedoch in spezifischen klinischen Konstellationen genetische Ursachen mehr in Betracht gezogen und genetische Diagnostik und Beratung angeboten werden.
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