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

Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Marjolein H Willemsen5, Gert JM de Leijer6, Tjitske Kleefstra51Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, 3Donders Centre for Cognitio...

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Autores principales:	Verhoeven WMA, Egger JIM, Willemsen MH, de Leijer GJM, Kleefstra T
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2012
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/9daf4bb62d2643d8b5b4b8e13bc2c0a1
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spelling	oai:doaj.org-article:9daf4bb62d2643d8b5b4b8e13bc2c0a12021-12-02T01:51:38ZPhelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?1176-63281178-2021https://doaj.org/article/9daf4bb62d2643d8b5b4b8e13bc2c0a12012-04-01T00:00:00Zhttp://www.dovepress.com/phelan-mcdermid-syndrome-in-two-adult-brothers-atypical-bipolar-disord-a9738https://doaj.org/toc/1176-6328https://doaj.org/toc/1178-2021Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Marjolein H Willemsen5, Gert JM de Leijer6, Tjitske Kleefstra51Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, 3Donders Centre for Cognition, Radboud University Nijmegen, Nijmegen, 4Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, 5Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, 6Dichterbij, Institutes for Intellectual Disabilities, Gennep, The NetherlandsAbstract: 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 a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations with associated autistic-like features, whereas its psychopathological phenotype comprises an atypical bipolar disorder. The latter may have implications for the treatment regime of the syndrome-related behavioral disturbances.Keywords: 22q13.3 deletion syndrome, 22qter, Phelan-McDermid, SHANK3, autism spectrum, unstable mood disorder, cerebellar vermisVerhoeven WMAEgger JIMWillemsen MHde Leijer GJMKleefstra TDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2012, Iss default, Pp 175-179 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Verhoeven WMA Egger JIM Willemsen MH de Leijer GJM Kleefstra T Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
description	Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Marjolein H Willemsen5, Gert JM de Leijer6, Tjitske Kleefstra51Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, 3Donders Centre for Cognition, Radboud University Nijmegen, Nijmegen, 4Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, 5Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, 6Dichterbij, Institutes for Intellectual Disabilities, Gennep, The NetherlandsAbstract: 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 a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations with associated autistic-like features, whereas its psychopathological phenotype comprises an atypical bipolar disorder. The latter may have implications for the treatment regime of the syndrome-related behavioral disturbances.Keywords: 22q13.3 deletion syndrome, 22qter, Phelan-McDermid, SHANK3, autism spectrum, unstable mood disorder, cerebellar vermis
format	article
author	Verhoeven WMA Egger JIM Willemsen MH de Leijer GJM Kleefstra T
author_facet	Verhoeven WMA Egger JIM Willemsen MH de Leijer GJM Kleefstra T
author_sort	Verhoeven WMA
title	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
title_short	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
title_full	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
title_fullStr	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
title_full_unstemmed	Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
title_sort	phelan-mcdermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
publisher	Dove Medical Press
publishDate	2012
url	https://doaj.org/article/9daf4bb62d2643d8b5b4b8e13bc2c0a1
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Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

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