Cargando…

Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population

Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disease. Around 90% of individuals with TSC present some neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders, TAND). To date, none of the studies have focused on the TAND profile of the adult population. Thus, th...

Descripción completa

Detalles Bibliográficos
Autores principales: Marcinkowska, Anna B., Jóźwiak, Sergiusz, Tarasewicz, Agnieszka, Dębska-Ślizień, Alicja, Szurowska, Edyta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658121/
https://www.ncbi.nlm.nih.gov/pubmed/36362764
http://dx.doi.org/10.3390/jcm11216536
_version_ 1784829871973728256
author Marcinkowska, Anna B.
Jóźwiak, Sergiusz
Tarasewicz, Agnieszka
Dębska-Ślizień, Alicja
Szurowska, Edyta
author_facet Marcinkowska, Anna B.
Jóźwiak, Sergiusz
Tarasewicz, Agnieszka
Dębska-Ślizień, Alicja
Szurowska, Edyta
author_sort Marcinkowska, Anna B.
collection PubMed
description Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disease. Around 90% of individuals with TSC present some neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders, TAND). To date, none of the studies have focused on the TAND profile of the adult population. Thus, the aim of the study was to describe their potential specific needs and difficulties, including differences in cohorts with or without epilepsy and/or intellectual disability. Method: The Polish version of the TAND Checklist was used for assessment of individuals with TSC. Participants had to meet the criteria for diagnosis of TSC. One hundred adult participants (forty-eight males/ fifty-two females; mean age 32.33 ± 11.29) were enrolled in the study. Epilepsy was present in 71% of patients; intellectual disability occurred in a total of 37%. Results: Only 11% of individuals received complete TAND features examination in the past. Moreover, 91.5 of the subjects had four and more TAND symptoms. Intellectually disabled patients and those with epilepsy had more neuropsychiatric problems than epilepsy-free subjects. Conclusions: Findings reveal that TANDs are common in adults with TSC and are underdiagnosed. Most individuals present several behavioural and cognitive problems. Among psychiatric disorders, the most common are ASD, depression, and anxiety disorder. TAND screening should be widely disseminated and applied in clinical practice for early identification, prevention, and rehabilitation of their difficulties. TAND is one of the most significant issues affecting the quality of life of TSC patients and their carers.
format Online
Article
Text
id pubmed-9658121
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-96581212022-11-15 Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population Marcinkowska, Anna B. Jóźwiak, Sergiusz Tarasewicz, Agnieszka Dębska-Ślizień, Alicja Szurowska, Edyta J Clin Med Article Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disease. Around 90% of individuals with TSC present some neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders, TAND). To date, none of the studies have focused on the TAND profile of the adult population. Thus, the aim of the study was to describe their potential specific needs and difficulties, including differences in cohorts with or without epilepsy and/or intellectual disability. Method: The Polish version of the TAND Checklist was used for assessment of individuals with TSC. Participants had to meet the criteria for diagnosis of TSC. One hundred adult participants (forty-eight males/ fifty-two females; mean age 32.33 ± 11.29) were enrolled in the study. Epilepsy was present in 71% of patients; intellectual disability occurred in a total of 37%. Results: Only 11% of individuals received complete TAND features examination in the past. Moreover, 91.5 of the subjects had four and more TAND symptoms. Intellectually disabled patients and those with epilepsy had more neuropsychiatric problems than epilepsy-free subjects. Conclusions: Findings reveal that TANDs are common in adults with TSC and are underdiagnosed. Most individuals present several behavioural and cognitive problems. Among psychiatric disorders, the most common are ASD, depression, and anxiety disorder. TAND screening should be widely disseminated and applied in clinical practice for early identification, prevention, and rehabilitation of their difficulties. TAND is one of the most significant issues affecting the quality of life of TSC patients and their carers. MDPI 2022-11-03 /pmc/articles/PMC9658121/ /pubmed/36362764 http://dx.doi.org/10.3390/jcm11216536 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Marcinkowska, Anna B.
Jóźwiak, Sergiusz
Tarasewicz, Agnieszka
Dębska-Ślizień, Alicja
Szurowska, Edyta
Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title_full Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title_fullStr Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title_full_unstemmed Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title_short Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population
title_sort tuberous sclerosis complex patients’ needs and difficulties—results of tand questionnaire analysis in polish adult population
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658121/
https://www.ncbi.nlm.nih.gov/pubmed/36362764
http://dx.doi.org/10.3390/jcm11216536
work_keys_str_mv AT marcinkowskaannab tuberoussclerosiscomplexpatientsneedsanddifficultiesresultsoftandquestionnaireanalysisinpolishadultpopulation
AT jozwiaksergiusz tuberoussclerosiscomplexpatientsneedsanddifficultiesresultsoftandquestionnaireanalysisinpolishadultpopulation
AT tarasewiczagnieszka tuberoussclerosiscomplexpatientsneedsanddifficultiesresultsoftandquestionnaireanalysisinpolishadultpopulation
AT debskaslizienalicja tuberoussclerosiscomplexpatientsneedsanddifficultiesresultsoftandquestionnaireanalysisinpolishadultpopulation
AT szurowskaedyta tuberoussclerosiscomplexpatientsneedsanddifficultiesresultsoftandquestionnaireanalysisinpolishadultpopulation