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Emotional-psychological concerns of Turner’s patients regarding social discrimination

INTRODUCTION: Turner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … as well as variable...

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Autores principales: Bouayed Abdelmoula, N., Abdelmoula, B., Sellami, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479733/
http://dx.doi.org/10.1192/j.eurpsy.2023.1882
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author Bouayed Abdelmoula, N.
Abdelmoula, B.
Sellami, S.
author_facet Bouayed Abdelmoula, N.
Abdelmoula, B.
Sellami, S.
author_sort Bouayed Abdelmoula, N.
collection PubMed
description INTRODUCTION: Turner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … as well as variable degrees of cognitive impairments. Besides, social skills, communication and relationships are usually disordered. OBJECTIVES: The aim of this study was to report social challenges of Turner syndrome particularly related to discrimination regarding physical and cognitive impairments. METHODS: A retrospective analysis of clinic data and karyotypes were carried out for the patients diagnosed with Turner syndrome among patients who consulted at our genetic counselling at the medical University of Sfax, during the last two decades. Cytogenetic analysis were carried out using conventional methods and RHG banding with analysis of at least 20 metaphases and 3 karyotypes for each patient. Social challenges were recorded for each patient during pre-cytogenetic consultation and oriented questioning. RESULTS: We identified 23 cases referred with a cytogenetic diagnosis of monsomy X. The karyotyping was indicated for dysmorphism, primary or secondary amenorrhea, female infertility and recurrent pregnancy losses. Homogeneous X chromosome monosomy was recorded in 13% of cases, whereas mosaic forms with and without structural X/Y abnormalities were more frequent (82%). The mean age of patients in the study was twenty years. When the 45,X population was the predominant one (56,5%), dysmorphism and primary amenorrhea were constant. In the mosaic forms, clinical traits of Turner syndrome were insignificant. Discrimination based on physical appearance, intellectual disability, and failure to conceive were the three types of social challenges revealed by patients of our study. Parents of Turner patients were also concerned at the psychological level. They in fact revealed their emotional distress face to stressful experiences of their children with Turner syndrome regarding the social discrimination they encountered particularly in schools. CONCLUSIONS: Social challenges related to discrimination based on physical appearance, intellectual disability, and failure to conceive in Turner syndrome lead to depression, low self-esteem and anxiety. DISCLOSURE OF INTEREST: None Declared
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spelling pubmed-104797332023-09-06 Emotional-psychological concerns of Turner’s patients regarding social discrimination Bouayed Abdelmoula, N. Abdelmoula, B. Sellami, S. Eur Psychiatry Abstract INTRODUCTION: Turner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … as well as variable degrees of cognitive impairments. Besides, social skills, communication and relationships are usually disordered. OBJECTIVES: The aim of this study was to report social challenges of Turner syndrome particularly related to discrimination regarding physical and cognitive impairments. METHODS: A retrospective analysis of clinic data and karyotypes were carried out for the patients diagnosed with Turner syndrome among patients who consulted at our genetic counselling at the medical University of Sfax, during the last two decades. Cytogenetic analysis were carried out using conventional methods and RHG banding with analysis of at least 20 metaphases and 3 karyotypes for each patient. Social challenges were recorded for each patient during pre-cytogenetic consultation and oriented questioning. RESULTS: We identified 23 cases referred with a cytogenetic diagnosis of monsomy X. The karyotyping was indicated for dysmorphism, primary or secondary amenorrhea, female infertility and recurrent pregnancy losses. Homogeneous X chromosome monosomy was recorded in 13% of cases, whereas mosaic forms with and without structural X/Y abnormalities were more frequent (82%). The mean age of patients in the study was twenty years. When the 45,X population was the predominant one (56,5%), dysmorphism and primary amenorrhea were constant. In the mosaic forms, clinical traits of Turner syndrome were insignificant. Discrimination based on physical appearance, intellectual disability, and failure to conceive were the three types of social challenges revealed by patients of our study. Parents of Turner patients were also concerned at the psychological level. They in fact revealed their emotional distress face to stressful experiences of their children with Turner syndrome regarding the social discrimination they encountered particularly in schools. CONCLUSIONS: Social challenges related to discrimination based on physical appearance, intellectual disability, and failure to conceive in Turner syndrome lead to depression, low self-esteem and anxiety. DISCLOSURE OF INTEREST: None Declared Cambridge University Press 2023-07-19 /pmc/articles/PMC10479733/ http://dx.doi.org/10.1192/j.eurpsy.2023.1882 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Abstract
Bouayed Abdelmoula, N.
Abdelmoula, B.
Sellami, S.
Emotional-psychological concerns of Turner’s patients regarding social discrimination
title Emotional-psychological concerns of Turner’s patients regarding social discrimination
title_full Emotional-psychological concerns of Turner’s patients regarding social discrimination
title_fullStr Emotional-psychological concerns of Turner’s patients regarding social discrimination
title_full_unstemmed Emotional-psychological concerns of Turner’s patients regarding social discrimination
title_short Emotional-psychological concerns of Turner’s patients regarding social discrimination
title_sort emotional-psychological concerns of turner’s patients regarding social discrimination
topic Abstract
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479733/
http://dx.doi.org/10.1192/j.eurpsy.2023.1882
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