Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review

Mosaic trisomy 20 is a genetic condition in which three chromosomes 20 are found in some cells. Its clinical phenotype seems to be highly variable, with most features not reported across all individuals and not considered pathognomonic of the condition. Limited and recent evidence indicates that neu...

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Autores principales:	Marco Colizzi, Giulia Antolini, Laura Passarella, Valentina Rizzo, Elena Puttini, Leonardo Zoccante
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	pediatric conditions psychiatric genetics anger self-regulation aneuploidy autosomal trisomy Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/73d3cc095b7d494ea41df041421a205e
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spelling	oai:doaj.org-article:73d3cc095b7d494ea41df041421a205e2021-11-25T17:14:41ZAdditional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review10.3390/children81110302227-9067https://doaj.org/article/73d3cc095b7d494ea41df041421a205e2021-11-01T00:00:00Zhttps://www.mdpi.com/2227-9067/8/11/1030https://doaj.org/toc/2227-9067Mosaic trisomy 20 is a genetic condition in which three chromosomes 20 are found in some cells. Its clinical phenotype seems to be highly variable, with most features not reported across all individuals and not considered pathognomonic of the condition. Limited and recent evidence indicates that neuropsychiatric manifestations may be more present in the context of trisomy 20 than was once thought. Here, we present a case of a 14-year-old female adolescent of White/Caucasian ethnicity with mosaic trisomy 20, who was admitted twice to an inpatient Child and Adolescent Neuropsychiatry Unit for persisting self-injury and suicidal ideation. A severe and complex neuropsychiatric presentation emerged at the cognitive, emotional, and behavioral levels, including mild neurodevelopmental issues, isolation, socio-relational difficulties, depressed mood, temper outbursts, irritability, low self-esteem, lack of interest, social anxiety, panic attacks, self-cutting, and low-average-range and heterogeneous intelligence quotient profile. Particularly, the patient was considered at high risk of causing harm, mainly to self, and appeared to be only partially responsive to medication, even when polypharmacy was attempted to improve clinical response. Except for school bullying, no other severe environmental risk factors were present in the patient’s history. The patient received a diagnosis of disruptive mood dysregulation disorder.Marco ColizziGiulia AntoliniLaura PassarellaValentina RizzoElena PuttiniLeonardo ZoccanteMDPI AGarticlepediatric conditionspsychiatric geneticsangerself-regulationaneuploidyautosomal trisomyPediatricsRJ1-570ENChildren, Vol 8, Iss 1030, p 1030 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pediatric conditions psychiatric genetics anger self-regulation aneuploidy autosomal trisomy Pediatrics RJ1-570
spellingShingle	pediatric conditions psychiatric genetics anger self-regulation aneuploidy autosomal trisomy Pediatrics RJ1-570 Marco Colizzi Giulia Antolini Laura Passarella Valentina Rizzo Elena Puttini Leonardo Zoccante Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
description	Mosaic trisomy 20 is a genetic condition in which three chromosomes 20 are found in some cells. Its clinical phenotype seems to be highly variable, with most features not reported across all individuals and not considered pathognomonic of the condition. Limited and recent evidence indicates that neuropsychiatric manifestations may be more present in the context of trisomy 20 than was once thought. Here, we present a case of a 14-year-old female adolescent of White/Caucasian ethnicity with mosaic trisomy 20, who was admitted twice to an inpatient Child and Adolescent Neuropsychiatry Unit for persisting self-injury and suicidal ideation. A severe and complex neuropsychiatric presentation emerged at the cognitive, emotional, and behavioral levels, including mild neurodevelopmental issues, isolation, socio-relational difficulties, depressed mood, temper outbursts, irritability, low self-esteem, lack of interest, social anxiety, panic attacks, self-cutting, and low-average-range and heterogeneous intelligence quotient profile. Particularly, the patient was considered at high risk of causing harm, mainly to self, and appeared to be only partially responsive to medication, even when polypharmacy was attempted to improve clinical response. Except for school bullying, no other severe environmental risk factors were present in the patient’s history. The patient received a diagnosis of disruptive mood dysregulation disorder.
format	article
author	Marco Colizzi Giulia Antolini Laura Passarella Valentina Rizzo Elena Puttini Leonardo Zoccante
author_facet	Marco Colizzi Giulia Antolini Laura Passarella Valentina Rizzo Elena Puttini Leonardo Zoccante
author_sort	Marco Colizzi
title	Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
title_short	Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
title_full	Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
title_fullStr	Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
title_full_unstemmed	Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
title_sort	additional evidence for neuropsychiatric manifestations in mosaic trisomy 20: a case report and brief review
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/73d3cc095b7d494ea41df041421a205e
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Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review

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