Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 – A polish study DOI Creative Commons
Katarzyna Kowal, Michał Skrzypek

PLoS ONE, Год журнала: 2024, Номер 19(11), С. e0310501 - e0310501

Опубликована: Ноя. 13, 2024

Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, whose clinical picture dominated by visible body changes as well numerous somatic and behavioural abnormalities. Aim The aim of the study was to explore ways in which individual experiences NF1 everyday life, with particular emphasis on impact altered family interactions, addition personal social identity individuals NF1. Methods A qualitative performed using in-depth interviews 93 (median age: 36.69; range: 18 64; 26% males). Results Body caused determine specificity interactions families sick. strength direction depends their (visibility, invisibility), meanings given them. visibility disease lesions triggers attitude excessive control stigmatization family, especially part mothers NF1, prompts a tendency define through prism its bodily manifestations. In turn, lack symptoms gives rise to, fathers sick, opposing attitudes denial, normalization question great intensity interactional problems concerns those transmitted inheritance, members blame each other for disease. This leads repression denial disease, excluding it from scope issues discussed attempt avoid attribution Conclusions resulting have consequences that are critical importance lives understood sick his or her members. obtained patient-driven data constitute convenient starting point designing personalized interventions supporting families.

Язык: Английский

Stigmatisation experiences in families with hereditary conditions: an exploratory study DOI Creative Commons

Jerônimo Correia Oliveira,

Álvaro Mendes, Milena Paneque

и другие.

Journal of Community Genetics, Год журнала: 2025, Номер unknown

Опубликована: Март 25, 2025

Язык: Английский

Процитировано

0
Internalizing and externalizing symptoms in individuals with neurofibromatosis type 1: a systematic review and meta-analysis DOI Creative Commons
Dan Liu, Liyan Yu,

Xian Wu

и другие.

Systematic Reviews, Год журнала: 2025, Номер 14(1)

Опубликована: Янв. 22, 2025

Abstract Background Individuals with neurofibromatosis type 1 (NF1) frequently report psychosocial problems, among which internalizing and externalizing symptoms are the most poorly understood due to limited research inconsistent evidence. This hinders overall attendance of their needs has a major impact on quality life. Thus, this systematic review meta-analysis was conducted synthesize existing findings degree individuals NF1 experience symptoms, compared unaffected population, explore moderators group disparities. Methods Scopus, PsycINFO, Web Science, PubMed, ProQuest were searched from inception March 26th, 2024, identified 59 eligible studies ( N = 3182, mean ages 2.38 46.4 years). Hedges’ g calculated for differences in between controls. Study effect sizes pooled using robust variance estimation random-effects models. Moderators tested meta-regression. Results Random-effects meta-analyses indicated that controls, showed more severe depressive k 21; 0.43; 95% CI [0.21, 0.65]), anxiety 24; 0.27; [0.01, 0.54]), somatic 27; 0.56; [0.30, 0.83]), total 75; 0.50; [0.33, 0.67]), aggression 33; 0.33; [0.08, 0.58]), delinquency, 37; [0.26, 0.60]), 47; 0.24; [0.13, 0.35]). Studies included participants who had ADHD or lower verbal IQ reported greater disparities aggression. Conclusions Findings highlight importance promptly recognizing timely interventions. Future should identify predictors within population inform our knowledge intervention development. Other implications future also discussed. Systematic registration The study protocol registered at PROSPERO (CRD42023478258).

Язык: Английский

Процитировано

0
Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility DOI Creative Commons
Nicola Davide Cavallo,

Paola Maietta,

Silverio Perrotta

и другие.

Children, Год журнала: 2024, Номер 11(8), С. 1033 - 1033

Опубликована: Авг. 22, 2024

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple systems in the body, often leading to physical disfigurements and wide range of clinical symptoms. This study aims investigate relationship between NF1 severity visibility quality life (QoL) children. Methods: The Pediatric Quality Life Inventory (PedsQL) modified version Ablon scale were used assess QoL visibility, respectively. Self-reported parent-reported scores compared, associations severity/visibility explored. Results: Thirty-eight pediatric patients their parents enrolled. did not differ significantly patient self-reports parent reports. However, correlational analyses revealed higher was associated with lower patients, greater linked social QoL. For parents, correlated school functioning, whereas show significant correlation Conclusion: have distinct impacts on various aspects children, highlighting need for tailored interventions address both psychological challenges. These findings underscore importance comprehensive care approaches managing populations.

Язык: Английский

Процитировано

1
Internalizing and Externalizing Symptoms in Individuals with Neurofibromatosis Type 1: A Systematic Review and Meta-analysis DOI Open Access
Dan Liu, Liyan Yu, Xian Wu

и другие.

Опубликована: Авг. 25, 2024

Background/Objectives: The disparities in internalizing and externalizing symptoms between individuals with versus without neurofibromatosis type 1 (NF1) are poorly understood, based on mixed evidence the literature. current meta-analysis aimed to synthesize existing findings topic explore moderators of group disparities. Method: Electronic databases were searched from inception March 26th 2024, which identified 59 eligible studies (N NF1 = 3,182, mean ages 2.38 46.4 years). primary outcome was differences NF1. Data analyzed using robust variance estimation random-effects models. Results: Compared unaffected controls, showed more severe depressive (k 21; g 0.43; 95% CI [0.21, 0.65]), anxiety 24; 0.27; [0.01, 0.54]), somatic 27; 0.56; [0.30, 0.83]), total 75; 0.50; [0.33, 0.67]), aggression 33; 0.33; [0.08, 0.58]), delinquency, 37; [0.26, 0.60]), 47; 0.24; [0.13, 0.35]). Studies that included participants who had ADHD or a lower verbal IQ reported greater aggression. Conclusions: Findings highlight importance including psychosocial needs monitoring treating Future research should identify predictors within population inform our knowledge intervention development.

Язык: Английский

Процитировано

1
Altered body as a source of interactional problems in the family of individuals with neurofibromatosis type 1 – A polish study DOI Creative Commons
Katarzyna Kowal, Michał Skrzypek

PLoS ONE, Год журнала: 2024, Номер 19(11), С. e0310501 - e0310501

Опубликована: Ноя. 13, 2024

Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, whose clinical picture dominated by visible body changes as well numerous somatic and behavioural abnormalities. Aim The aim of the study was to explore ways in which individual experiences NF1 everyday life, with particular emphasis on impact altered family interactions, addition personal social identity individuals NF1. Methods A qualitative performed using in-depth interviews 93 (median age: 36.69; range: 18 64; 26% males). Results Body caused determine specificity interactions families sick. strength direction depends their (visibility, invisibility), meanings given them. visibility disease lesions triggers attitude excessive control stigmatization family, especially part mothers NF1, prompts a tendency define through prism its bodily manifestations. In turn, lack symptoms gives rise to, fathers sick, opposing attitudes denial, normalization question great intensity interactional problems concerns those transmitted inheritance, members blame each other for disease. This leads repression denial disease, excluding it from scope issues discussed attempt avoid attribution Conclusions resulting have consequences that are critical importance lives understood sick his or her members. obtained patient-driven data constitute convenient starting point designing personalized interventions supporting families.

Язык: Английский

Процитировано

0