Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series

American Journal of Medical Genetics. Part a
Nancy J ButcherAnne S Bassett

Abstract

Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11.2 deletion. As in the general population, catatonic features in 22q11.2DS occurred in individuals with schizophrenia, other psychotic and non-psychotic psychiatric disorders, and neurological disorders like Parkinson's disease. We place the results in the context of an updated review of catatonia in other genetic conditions. The complex neuropsychiatric expression and risk profile of 22q11.2DS highlights the need to consider co-morbid factors and provide care tailored to the individual patient. The results reinforce the need for periodic monitoring for the emergence of psychiatric and neurological manifestations including catatonic features. Pending fur...Continue Reading

References

Mar 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·A J HughesA J Lees
Feb 1, 1996·Acta Psychiatrica Scandinavica·G BushA Francis
May 29, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·G NorthoffB Bogerts
Dec 22, 1999·Journal of the American Academy of Child and Adolescent Psychiatry·S I UsiskinJ L Rapoport
Sep 19, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·H A Shill, M A Stacy
May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·S A Weinzimer
Aug 10, 2002·Journal of Psychosomatic Research·Perminder Sachdev
Aug 29, 2003·The American Journal of Psychiatry·Anne S BassettRosanna Weksberg
Jul 22, 2004·American Journal of Medical Genetics. Part a·Amy KaoDavid R Lynch
Aug 25, 2004·The Journal of Clinical Psychiatry·Cristian DamsaStefan Beyenburg
Aug 27, 2004·Schizophrenia Research·Therese van AmelsvoortDeclan Murphy
Sep 10, 2004·Current Psychiatry Reports·Richard B FerrellThomas W McAllister
Jun 3, 2005·Clinical Dysmorphology·Elisabetta TabolacciGiovanni Neri
Jun 22, 2005·European Psychiatry : the Journal of the Association of European Psychiatrists·M SiebererP Garlipp
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Jun 7, 2006·Schizophrenia Research·Eva W C ChowAnne S Bassett
Sep 9, 2006·Annals of General Psychiatry·Heath R PenlandRajesh R Tampi
Apr 14, 2007·American Journal of Medical Genetics. Part a·Tawfeg I Ben-OmranAnnette Feigenbaum
Jul 27, 2007·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Erik BootThérèse van Amelsvoort
Aug 14, 2008·American Journal of Medical Genetics. Part a·Laura Hercher, Georgette Bruenner
Aug 14, 2008·CNS Drugs·Gina M Kennedy, Samden D Lhatoo
Feb 12, 2009·American Journal of Medical Genetics. Part a·Christina ZaleskiElizabeth McPherson
Feb 25, 2009·Epilepsy & Behavior : E&B·S Benbadis
Feb 28, 2009·Journal of Medical Genetics·A S BassettC Silversides
Aug 12, 2009·Seizure : the Journal of the British Epilepsy Association·Walter González, Ramon Edmundo D Bautista
Aug 13, 2009·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Thomas PaparrigopoulosJohn Liappas
Nov 4, 2009·Archives of General Psychiatry·Max Fink, Michael Alan Taylor
Dec 22, 2009·Clinical Neuropharmacology·Alissa A Thomas, Joseph H Friedman
Mar 12, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Victor PeraltaManuel J Cuesta
May 21, 2010·Nature Reviews. Neuroscience·Maria KarayiorgouJoseph A Gogos
Aug 10, 2010·The American Journal of Psychiatry·Wai Lun Alan FungAnne Bassett
Dec 22, 2010·Neurologic Clinics·Stanley N CaroffE Cabrina Campbell
Feb 8, 2011·Central Nervous System Agents in Medicinal Chemistry·Michele Fornaro
Apr 19, 2011·Epilepsy & Behavior : E&B·Kenneth R Kaufman
May 17, 2011·The Journal of Pediatrics·Anne S BassettUNKNOWN International 22q11.2 Deletion Syndrome Consortium
May 17, 2011·Behavior Genetics·Nicole Philip, Anne Bassett
Jun 16, 2011·The Journal of ECT·Shannon N Jap, Neera Ghaziuddin
Jul 9, 2011·PloS One·Fabiana da Silva AlvesTherese van Amelsvoort
Oct 6, 2011·The British Journal of Psychiatry : the Journal of Mental Science·Saeed Farooq, Mark Taylor
Nov 2, 2011·Acta Psychiatrica Scandinavica·N GhaziuddinK Marcotte
Nov 30, 2011·Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology·Jorge Merida-PugaMariana Espinola-Nadurille

❮ Previous
Next ❯

Citations

Oct 28, 2018·Pediatric Research·Jason W LundenMichael W Nestor
Feb 14, 2020·Journal of Neurodevelopmental Disorders·Teresa M KohlenbergAlexander Kolevzon
Feb 13, 2019·Movement Disorders Clinical Practice·Erik BootConnie Marras
Feb 3, 2021·The Psychiatric Clinics of North America·Neera GhaziuddinMohammad Ghaziuddin
Jul 6, 2020·Biological Psychiatry : Cognitive Neuroscience and Neuroimaging·Valentina ManciniStephan Eliez

❮ Previous
Next ❯

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Catatonic Schizophrenia

Catatonia is a psychomotor symptom in which patients present with stupor, although catatonic excitement may also present at the other end of the spectrum. Catatonia has been historically associated with schizophrenia although it is also associated with other neuropsychiatric disorders. Find the latest research on catatonic schizophrenia here.

Catatonia

Catatonia is a psychomotor syndrome with motor and behavioral symptoms, and can occur in both patients with or without psychiatric illness. Discover the latest research on Catatonia here.

Related Papers

Journal of the American Academy of Child and Adolescent Psychiatry
Doron GothelfStephan Eliez
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
Olivier CottencinSilla M Consoli
© 2022 Meta ULC. All rights reserved