Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Neuropsychiatric Disease and Treatment
Willem M A VerhoevenTjitske Kleefstra

Abstract

The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 (SHANK3) is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions. The present paper describes two adult brothers with an identical 2.15 Mb 22qter (22q13.32q13.33) deletion, of whom the youngest was referred for evaluation of recurrent mood changes. In both patients, magnetic resonance imaging of the brain showed hypoplasia of the vermis cerebelli. Extensive clinical examinations led to a final diagnosis of atypical bipolar disorder, of which symptoms fully remitted during treatment with a mood stabilizer. In the older brother, a similar psychopathological picture appeared to be present, although less severe and with ...Continue Reading

References

Jan 1, 1984·Applied Research in Mental Retardation·J L MatsonV Senatore
Dec 1, 1998·Journal of Medical Genetics·K S PrechtD H Ledbetter
Jun 8, 2001·American Journal of Medical Genetics·M C PhelanD P Kelly
Jun 30, 2001·American Journal of Human Genetics·M C BonagliaO Zuffardi
Feb 19, 2004·Clinical Pediatrics·Joaquim M HavensJohn M Graham
Mar 17, 2005·Clinical Dysmorphology·S G LindquistK Brøndum-Nielsen
Nov 15, 2005·Journal of Medical Genetics·M C BonagliaO Zuffardi
Sep 6, 2007·The Cerebellum·Jeremy D SchmahmannJanet C Sherman
Oct 11, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kristina Cusmano-OzogH Eugene Hoyme
Nov 14, 2007·American Journal of Human Genetics·Rainald MoessnerStephen W Scherer
May 29, 2008·Orphanet Journal of Rare Diseases·Mary C Phelan
Jun 5, 2008·European Journal of Human Genetics : EJHG·Heather L WilsonHeather E McDermid
Aug 9, 2008·Brain Research Reviews·Sylco S HoppenbrouwersZafiris J Daskalakis
Jun 10, 2009·International Journal of Methods in Psychiatric Research·Gijs van DuijnIna van Berckelaer-Onnes
Feb 27, 2010·American Journal of Medical Genetics. Part a·S U DharT Sahoo

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Citations

Oct 1, 2013·Journal of Neurology·Wladimir Bocca Vieira de Rezende PintoOrlando Graziani Povoas Barsottini
Jun 8, 2013·Nature Medicine·Richard DelormeThomas Bourgeron
Jul 24, 2013·Annual Review of Genomics and Human Genetics·Guillaume HuguetThomas Bourgeron
Jan 26, 2016·European Journal of Medical Genetics·Susanne SchmidtLise B Hoxmark
Nov 21, 2012·American Journal of Medical Genetics. Part a·Willem M A VerhoevenNicole de Leeuw
Oct 15, 2013·Developmental Neurobiology·Audrey GuilmatreThomas Bourgeron
Apr 16, 2013·Neuron·Yong-Hui Jiang, Michael D Ehlers
Aug 28, 2012·European Journal of Medical Genetics·Ksenija VucurovicMartine Doco-Fenzy
Sep 10, 2015·Journal of Child Neurology·Hala Harony-NicolasJoseph D Buxbaum
Apr 10, 2018·Experimental & Molecular Medicine·Sang-Eun LeeSunghoe Chang
Jan 11, 2019·Journal of Intellectual Disability Research : JIDR·P J ShanahanN Mirza
Dec 22, 2017·NPJ Genomic Medicine·Anne-Claude TabetThomas Bourgeron
Oct 20, 2017·JCI Insight·Andrea L PappasYong-Hui Jiang
Dec 25, 2019·The Journal of Clinical Investigation·Oakleigh M FolkesSachin Patel
May 29, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Aris GiannakopoulosChristina Kanaka-Gantenbein
Apr 22, 2015·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Jesse L Costales, Alexander Kolevzon
Apr 28, 2016·Journal of Neurodevelopmental Disorders·Renée J ZwanenburgConny M A Van Ravenswaaij-Arts
Jan 1, 2014·Journal of Neurodevelopmental Disorders·Alexander KolevzonJoseph D Buxbaum
Nov 19, 2020·Molecular Autism·Sarah Jacot-DescombesMerina Varghese
Aug 29, 2020·Neuroscience and Biobehavioral Reviews·Sehrish JavedWei-Hsiang Huang
Jul 31, 2021·Pediatric Neurology·Yitzchak Frank

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Methods Mentioned

BETA
genotyping

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