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Background: Advances in our understanding of the genetic basis of childhood cancer, including primary central nervous system cancers, are improving the diagnosis, treatment, and clinical management of pediatric patients. To effectively translate scientific breakthroughs into enhanced clinical care, it is essential we understand and learn from the experiences of patients, families, and health professionals. Methods: This report summarizes findings from 4 Australian psychosocial substudies exploring the perspectives of patients, parents, clinicians, and scientists participating in research related to childhood cancer genetics. Specifically, these studies focus on the psychosocial impact of germline testing in children, surveillance for children with a cancer predisposition syndrome and the perspectives of healthcare professionals who deliver this testing and surveillance. Results: Data presented highlight some of the opportunities and challenges associated with the changing context of genetic predisposition testing for children, adolescents and yound adults with cancer and illustrate how embedding psychosocial data collection in clinical research can answer important questions in the field and inform the design of patient-centric models of care, resources, and workforce training. Conclusions: By embracing these perspectives, we can ensure that advances in genetic research translate into enhanced family experiences, and, ultimately, improved outcomes for children and young people with cancer, and their families.

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Avoidant/Restrictive Food Intake Disorder (ARFID) and food neophobia present significant challenges in pediatric healthcare, particularly among children with food allergies (FAs). These eating disorders, characterized by the persistent avoidance or restriction of food, can lead to severe nutritional deficiencies and psychosocial impairments. The presence of FAs further complicates these eating behaviors, as the fear of allergic reactions exacerbates avoidance and restrictive patterns. This comprehensive review synthesizes current knowledge on ARFID and food neophobia, focusing on their definitions, characteristics, and the unique challenges they present in the context of FAs. The review explores the critical role of healthcare professionals, especially nurses, in integrating psychological and clinical care to improve outcomes for affected children. A multidisciplinary approach, including Cognitive Behavioral Therapy (CBT) and Family-Based Therapy (FBT), is emphasized as essential in addressing the complex needs of these patients. The review also highlights the need for standardized treatment protocols and further research on the long-term outcomes of these disorders, aiming to enhance therapeutic strategies and family support systems. Effective management of ARFID and food neophobia in the context of FAs requires a holistic and integrated approach to mitigate the profound impacts on a child's growth, development, and overall well-being.

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BACKGROUND: The psychosocial impact of dental aesthetics (PIDA) has a significant effect on well-being and quality of life. This study aimed to explore the latent heterogeneous classes of the PIDA among adolescents and investigate the relationships among identified subtypes and sociodemographic variables, the status of left-behind children, and the clinical manifestations of malocclusion. METHODS: A cross-sectional study on the PIDA among 1451 adolescents aged 11 to 12 years in elementary schools in a rural area in Guangxi, China, was conducted. The PIDA on adolescents was also investigated via latent profile analysis; each predictor was tested via ordinal logistic regression. RESULTS: Three latent classes for the PIDA were identified: low-risk (48.2%), medium-risk (39.8%), and high-risk (11.9%) groups. There were significant differences among the three latent classes. The results revealed that being female, The duration of maternal employment outside the hometown, the largest anterior maxillary irregularity, the largest anterior mandibular irregularity, and the antero-posterior molar relationship (ORs of 1.737, 1.138, 1.117, 1.157, and OR = 1.242; P < 0.001, < 0.01, < 0.01, < 0.01 and < 0.05, respectively) had significant effects on the PIDA on adolescents. CONCLUSIONS: The occlusal features, being female and the duration of maternal employment outside the hometown are risk factors that influence the PIDA on adolescents. This provides an evidence for improving the PIDA status among rural adolescents.

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PURPOSE: The purpose of this study was to assess the long-term stability of objective and subjective psychosocial improvements and fluency more than 10 years after participation in an intensive stuttering therapy camp. METHOD: Ten former participants in intensive stuttering therapy (IST; mean age at time of intervention 14; 2 years) participated in this study. Outcomes of the IST at that time were assessed with the Stuttering Severity Instrument (SSI-3; Riley, 1994) and a questionnaire to measure the psychosocial impact of stuttering. A semi-structured video call and a general questionnaire for the long-term evaluation were used to gauge the participants' perceptions of the IST. These follow-up data were compared to the therapy outcomes reported by Cook (2011, 2013). RESULT: Therapy effects on the severity of stuttering and psychosocial impact were stable over the follow-up period of more than 10 years. Moreover, scores for psychosocial impact and severity of stuttering further decreased from the end of the IST to the long-term evaluation. The intensive time and the periodically offered follow-up treatments were described as particularly positive by the participants. CONCLUSION: Intensive stuttering therapy in childhood or adolescence can have a long-term positive effect on both internal and external stuttering symptoms.

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BACKGROUND AND AIM: Female genital circumcision (FGC), a prevalent practice in the Kurdistan Region of Iraq, has significant psychosocial and sexual implications for affected women. Therefore, this study aimed to investigate these impacts among circumcised and non-circumcised Kurdish women. METHOD: This comparative study was conducted from January 2 to June 27, 2023, at the Al Mesalla for Human Rights Improvement organization in Erbil, Iraq. Purposive sampling was used to collect data using a comprehensive questionnaire. The questionnaire included demographic information, the Depression, Anxiety, and Stress Scale (DASS-21), the Rosenberg Self-Esteem Scale (RSE), and the New Sexual Satisfaction Scale-Short Form (NSSS-S). Statistical analysis was performed using SPSS version 26 (IBM Corp., Armonk, NY), with frequency and percentage used for categorical variables and mean and standard deviation for quantitative variables. Independent sample t-tests and Chi-square tests were conducted to compare groups. A p-value of less than 0.05 was considered statistically significant. RESULTS: A total of 772 participants were enrolled in the study, including 382 circumcised and 390 non-circumcised women. The study found significant differences between the two groups in terms of depression, self-esteem, and sexual satisfaction. Circumcised women had higher mean scores for depression (12.19 ± 5.6 vs. 10.68 ± 5.3), lower mean scores for self-esteem (24.4 ± 12.1 vs. 30.3 ± 10.1), and lower mean scores for sexual satisfaction (52.4 ± 24.6 vs. 67.6 ± 20.4) compared to non-circumcised women (all p < 0.001). CONCLUSIONS: The study demonstrated that FGC is associated with higher levels of depression, lower self-esteem, and lower sexual satisfaction among Kurdish women. It is recommended for policymakers and healthcare providers to develop targeted interventions to address the psychosocial and sexual health needs of circumcised women in the Kurdistan Region of Iraq.

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BACKGROUND: While food allergy (FA) can be fatal, the greatest public health impact of FA arguably lies in its detrimental effect on quality of life (FAQOL). Understanding the factors that contribute to FAQOL at different ages is essential to develop personalized interventions that will improve FAQOL. OBJECTIVE: To determine the most influential factors that impact FAQOL across ages in well-phenotyped participants with confirmed FA. METHODS: One hundred and twenty-five individuals aged 2-28 years with IgE-mediated FA completed validated age-specific FAQOL questionnaires. The relationship between demographic/clinical variables and scores were analyzed to identify key predictors of FAQOL. RESULTS: Poor FAQOL was associated with increasing age, strict avoidance practices, reactions to trace exposures, and more severe reactions as assessed by epinephrine use, anaphylaxis, and/or treatment in the emergency department; FAQOL improved with time from the event. FAQOL was worse in subjects avoiding >2 versus ≤2 foods and in those avoiding milk, egg, soy, sesame, or wheat. Number of foods avoided had greatest impact on children ages 2-7 years, while total number of allergic reactions strongly impacted FAQOL in teens and adults; FAQOL of subjects ages 8-12 years appeared less affected by these variables compared to other age groups. A decision tree analysis identified key predictors of overall FAQOL (age, number of food avoidances, and time since epinephrine use) that can be used to guide intervention strategies to improve FAQOL. CONCLUSION: We directly compared FAQOL in extensively phenotyped children, teenagers, and adults with confirmed IgE-mediated FA. Age; timing, number, and severity of reactions; type and number of FA; and food avoidance practices influence FAQOL and should guide intervention strategies.

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STUDY PURPOSE: this study aims to analyze QOL and psychosocial impact on patients with blood disorders. METHODS: A cross-sectional survey design is adopted in this study. The survey questionnaire included SF-36 form for measuring quality of life (QOL), along with psychosocial impact assessment scale. Adult patients with different types of blood disorders were recruited for the survey. Out of the 417 responses received, 389 were considered for data analysis and the remaining were avoided due to incomplete data. RESULTS: In terms of psychosocial impact scales, the highest mean is observed for financial stress (4.09 ± 1.22), followed by social exclusion (3.76 ± 1.19) and relationship challenges (3.31 ± 1.18). Among the QOL scales, the highest mean was observed for pain (3.81 ± 1.17), followed by physical functioning (3.68 ± 1.12). Statistically significant differences (p < 0.05) were observed among the participants groups characterized by age and type of disorder. Strong positive correlations between social exclusion and general health (r = 0.513), as well as pain and relationship challenges (r = 0.735) were observed. CONCLUSION: Given the existing challenges in social exclusion, poor awareness, and support there is a need to develop comprehensive and personalized treatment plans integrating physical and mental support, awareness creation, and financial support.

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BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screening protocols, evidence-based guidelines for cancer screening in A-T are lacking. This study sought to assess feasibility of a cancer screening protocol based on whole-body MRI (WB-MRI) in children and young people with A-T. DESIGN/METHODS: Children and young people with A-T were invited to undergo a one-off non-sedated 3-Tesla WB-MRI. Completion rate of WB-MRI was recorded and diagnostic image quality assessed by two experienced radiologists, with pre-specified success thresholds for scan completion of >50% participants and image quality between acceptable to excellent in 65% participants. Positive imaging findings were classified according to the ONCO-RADS system. Post-participation interviews were performed with recruited families to assess the experience of participating and feelings about waiting for, and communication of, the findings of the scan. RESULTS: Forty-six children and young people with A-T were identified, of which 36 were eligible to participate, 18 were recruited and 16 underwent WB-MRI. Nineteen parents participated in interviews. Fifteen participants (83%) completed the full WB-MRI scan protocol. The pre-specified image quality criterion was achieved with diagnostic images obtained in at least 93% of each MRI sequence. Non-malignant scan findings were present in 4 (25%) participants. Six themes were identified from the interviews: (1) anxiety is a familiar feeling, (2) the process of MRI scanning is challenging for some children and families, (3) preparation is essential to reduce stress, (4) WB-MRI provides the reassurance about the physical health that families need, (5) WB-MRI experience turned out to be a positive experience and (6) WB-MRI allows families to be proactive. CONCLUSION: This study shows that WB-MRI for cancer screening is feasible and well-accepted by children and young people with A-T and their families.

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Introdução: A autoestima é definida pelo valor que as pessoas dão a si mesmas. É um componente avaliativo do autoconhecimento. A cirurgia plástica tem sido uma alternativa para as pessoas melhorarem a visão de si mesmas, sentindo-se mais confiantes e satisfeitas com seus aspectos corporais. Dessa forma, com a elevação da autoestima nessas pessoas, a cirurgia é capaz de interferir de forma positiva não somente na autoavaliação corporal, mas também na dimensão psicossocial. Método: Foi realizado um estudo observacional descritivo e analítico longitudinal prospectivo no qual foi avaliado o impacto da cirurgia plástica na autoestima e nos relacionamentos pessoais e profissionais. Aplicamos um questionário sociodemográfico, a Escala de Autoestima de Rosenberg, além do Questionário de Qualidade de Vida da OMS abreviado (WHOQOL-bref) em pacientes no pré-operatório e que serão submetidos a cirurgia plástica com, pelo menos, 3 meses de pós-operatório, graduando, desta forma, a melhora ou não da autoestima e qualidade de vida. Resultados: Participaram da pesquisa 52 pacientes, sendo 48 mulheres (92,3%), apresentando idade média de 37±11 anos. Através da aplicação da Escala de Autoestima de Rosenberg, pudemos notar uma evolução da autoestima, em que os pacientes apresentaram uma média de 29,87±2,10 pontos no escore do período pré-operatório, passando para 34,92±1,84 pontos no período pós-operatório. (p<0,001). Já no WHOQOL-bref, foi obtida uma melhora da autoestima através dos escores dos 4 domínios. Conclusão: Através deste estudo, foi evidenciado um aumento da autoestima e qualidade de vida.

Introduction: Self-esteem is defined by the value people place on themselves. It is an evaluative component of self-knowledge. Plastic surgery has been an alternative for people to improve their vision of themselves, feeling more confident and satisfied with their body aspects. Therefore, by increasing self-esteem in these people, surgery is capable of positively interfering not only with body self-assessment but also in the psychosocial dimension. Method: A prospective longitudinal descriptive and analytical observational study was carried out in which the impact of plastic surgery on self-esteem and personal and professional relationships was assessed. We applied a sociodemographic questionnaire, the Rosenberg Self-Esteem Scale, in addition to the abbreviated WHO Quality of Life Questionnaire (WHOQOL-bref) in patients in the preoperative period and who will undergo plastic surgery at least 3 months after surgery. surgery, thus determining whether or not self-esteem and quality of life improve. Results: 52 patients participated in the research, 48 of whom were women (92.3%), with a mean age of 37±11 years. Through the application of the Rosenberg Self-Esteem Scale, we were able to notice an evolution in self-esteem, in which patients presented an average of 29.87±2.10 points in the preoperative period score, rising to 34.92±1.84 points in the postoperative period (p<0.001). In the WHOQOL-bref, an improvement in self-esteem was obtained through the scores of the 4 domains. Conclusion: Through this study, an increase in self-esteem and quality of life was evidenced.

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INTRODUCTION: Choroideremia (CHM) is an X-linked inherited retinal disease mostly affecting males. However, women with phenotypic and/or genotypic evidence of CHM may develop degenerative visual disability with advancing age. Our objective was to determine the visual impacts of phenotypic and/or genotypic evidence of CHM in women and its associated psychosocial burden and influence on activities of daily living (ADLs). METHODS: We conducted an international cross-sectional survey from April to December 2022 using an e-questionnaire distributed through not-for-profit stakeholder organizations and social media plat-forms. RESULTS: With a total of 55 respondents (n = 55), most women with phenotypic and/or genotypic evidence of CHM (76%) reported a change in their visual acuity. When assessing its impact on ADLs, Pearson's correlation coefficient showed a negative correlation between driving (p = 0.046) and mobility capabil-ities (0.046) with the respondent's age. More than half of women reported being afraid, anxious, and stressed, with women below the age of 50 years old reporting a significantly higher level of distress and hopelessness (p = 0.003), anxiety (p = 0.00007), issues with relaxing (p = 0.025), and negative personal thoughts (p = 0.042). CONCLUSION: Overall, this survey outlines both physical and psychological burden of being a woman with phenotypic and/or genotypic evidence of CHM. Given the limited clinical research in females affected by CHM, this patient-centered survey is a crucial advocacy tool for these individuals.

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BACKGROUND: Oral Health-Related Quality of Life (OHRQoL) is a comprehensive concept covering daily comfort, self-esteem, and satisfaction with oral health, including functional, psychological, and social aspects, as well as pain experiences. Despite abundant research on OHRQoL related to oral diseases and hygiene, there is limited data on how patients perceive changes after implant-prosthetic rehabilitation. This study aimed to evaluate OHRQoL and aesthetic perception using OHIP-14 and VAS scales respectively, before (baseline-TB), during (provisional prostheses-TP), and after (definitive prostheses-TD) implant-prosthetic rehabilitation. It also explored the impact of biological sex, substitution numbers, and aesthetic interventions on OHRQoL and VAS scores, along with changes in OHIP-14 domains. METHODS: A longitudinal prospective single-center observational cohort study was conducted with patients requiring implant-prosthetic rehabilitation. Quality of life relating to dental implants was assessed through the Italian version of Oral Health Impact Profile-14 (IOHIP-14), which has a summary score from 14 to 70. Patients' perceived aesthetic was analyzed through a VAS scale from 0 to 100. Generalized Linear Mixed Effect Models, Linear Mixed Effect Models, and Friedman test analyzed patient responses. RESULTS: 99 patients (35 males, 64 females) aged 61-74, receiving various prosthetic interventions, were enrolled. Both provisional and definitive prosthetic interventions significantly decreased the odds of a worse quality of life compared to baseline, with odds ratios of 0.04 and 0.01 respectively. VAS scores increased significantly after both interventions, with estimated increases of 30.44 and 51.97 points respectively. Patient-level variability was notable, with an Intraclass Correlation Coefficient (ICC) of 0.43. While biological sex, substitution numbers, and aesthetic interventions didn't significantly affect VAS scores, OHRQoL domains showed significant changes post-intervention. CONCLUSIONS: These findings support the effectiveness of implant-prosthetic interventions in improving the quality of life and perceived aesthetics of patients undergoing oral rehabilitation. They have important implications for clinical practice, highlighting the importance of individualized treatment approaches to optimize patient outcomes and satisfaction in oral health care.

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Background: Approximately 82% of children with childhood cancer survive more than five years after diagnosis. Living as a cancer survivor elicits a new reality that can include psychosocial impacts. These psychosocial impacts interact collectively, especially regarding reassimilation, and are rarely explored. Objective: To explore the psychosocial impacts of surviving childhood cancer and reassimilation back into society in young adult survivors of childhood cancer. Methodology: Individual in-depth semi-structured interviews were conducted with childhood cancer survivors and explored psychosocial aspects associated with returning to work, school, and social environments after remission. Interpretive phenomenological analysis was conducted once interviews were manually transcribed. A group interview with survivors was held to discuss the study's findings and interpretation. Results: Individual interviews and the group interview revealed three major themes: outlook on reassimilating, outlook on coping, and outlook on cancer. Conclusions: This work is a first step to understanding how survivors' personal outlook on coping and healthcare system barriers play influential roles in reassimilation following cancer treatment. Survivors expressed the need for reliable survivorship information and improved communication with healthcare providers regarding what to expect, so they could feel prepared for life post-cancer. These aspects need to be explored more deeply through other qualitative studies.

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Hemophilia is a rare bleeding disorder caused by a genetic defect on chromosome X. It is inherited as an X-linked trait, and hence, it is more frequently diagnosed in males, whereas women have been traditionally considered only as carriers of the disease. However, the role of women in families of patients with hemophilia is pivotal. As mothers, sisters, daughters, and female partners of patients with hemophilia, they play a central role in the management of the patient, considering healthcare, social, and familial aspects, but they might be affected by the disease as well, particularly in regions where consanguinity is frequent. This paper aims to explore the involvement of women in hemophilia, including their carrier status, bleeding symptoms, treatment challenges, and psychosocial impact not only related to male patients, but also as patients affected with hemophilia themselves. We advocate health equity, equal access to healthcare for men and women with hemophilia and dedicated resources to improve the unique needs of the women dealing with hemophilia, ultimately leading to improved care and quality of life.

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This comprehensive review provides an in-depth examination of congenital anomalies of the female genital tract, explicitly focusing on the American Society for Reproductive Medicine (ASRM) Müllerian Anomalies Classification. The classification system is crucial for standardizing communication and guiding accurate diagnoses in clinical practice. The review explores the diverse clinical presentations, etiological factors, and diagnostic modalities associated with these anomalies. Management strategies, ranging from conservative approaches to advanced reproductive technologies, are discussed in the context of individualized treatment plans based on the ASRM classification. The psychosocial impact of female genital tract anomalies is thoroughly examined, emphasizing the importance of holistic care and patient-centered approaches. Looking toward the future, the review outlines emerging research areas, including advances in diagnosis techniques, innovative treatment modalities, and genetic studies. It ultimately underscores the need for a comprehensive understanding of physical and psychosocial dimensions, offering insights for healthcare professionals to navigate this complex landscape and improve the lives of affected individuals.

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The COVID-19 pandemic imposed widespread impacts on the health and well-being of children with respiratory challenges and their families, as well as on the health care system that supports them. An exploratory qualitative study was undertaken to examine how the pandemic impacted families' and health care providers' daily lives and experiences of care. Four youth, 12 parents and 7 health care providers participated in interviews via telephone or online technology. Content analysis of transcribed interviews revealed participant experiences, including initial responses to the pandemic, adjustment to pandemic shifts, and anticipation of the future. While deleterious physical health impacts were minimal for children with pre-existing respiratory conditions, their mental health was negatively impacted by the pandemic and related health protocols. Families and health care providers experienced strain, yet demonstrated resilience. Pandemic-related shifts profoundly impacted daily life at home, school, and work. Pediatric pandemic planning in clinical care is recommended to better address the needs of children with respiratory conditions and their families as well as pediatric health care providers.

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Introduction: The different strategies used worldwide to curb the COVID-19 pandemic between 2020 and 2021 had a negative psychosocial impact, which was disproportionately higher for socially and economically vulnerable groups. This article seeks to identify the psychosocial impact of the confinement period during the COVID-19 pandemic for the Colombian population by identifying profiles that predict the levels of different mental health indicators (feelings of fear, positive emotions or feelings during free time, and work impact) and based on them, characterize the risk factors and protection that allows us to propose guidelines for prevention or recovery from future health emergencies. Methods: This is an observational, cross-sectional, retrospective ex post facto study. Multistage cluster probabilistic sampling and binary logistic regression analysis were used to predict extreme levels of various mental health indicators based on psychosocial indicators of the COVID-19 confinement period and to identify risk and protection factors. Results: A relationship was established between the combination of some of the different psychosocial factors evaluated (this combination being the predictive profile identified) with each of the three main variables: feeling of fear (n = 8,247; R = 0.32; p = 0.00; Poverall = 62.4%; 𝜔overall = 0.25; 1-𝛽overall = 1.00), positive emotions or feelings during free time (n = 6,853; R = 0.25; p = 0.00; Poverall = 59.1%; 𝜔overall = 0.18; 1-𝛽overall = 1.00) and labour impact (n = 4,573; R = 0.47; p = 0.63; Poverall = 70.4%; 𝜔overall = 0.41; 1-𝛽overall = 1.00), with social vulnerability determined by sociodemographic factors that were common in all profiles (sex, age, ethnicity and socioeconomic level) and conditions associated with job insecurity (unemployed, loss of health insurance and significant changes to job's requirements) and place of residence (city). Conclusion: For future health emergencies, it is necessary to (i) mitigate the socio-employment impact from emergency containment measures in a scaled and differentiated manner at the local level, (ii) propose prevention and recovery actions through psychosocial and mental health care accessible to the entire population, especially vulnerable groups, (iii) Design and implement work, educational and recreational adaptation programs that can be integrated into confinement processes.

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At present, the commonly used clinical protocols of oral cosmetic restoration are mostly based on the oral aesthetic indexes proposed by Western developed countries (referred to as Western aesthetics), which are different from the oral aesthetic indexes unique to Chinese people (referred to as Chinese aesthetics). In the design of restoration schemes and the evaluation of restoration effects, these differences have a large or small effect on the doctor-patient-technology triad. Improper handling could directly weaken the cooperation efficiency of the three parties, reduce patient satisfaction, and even lead to medical disputes in serious cases. From doing a good job of oral cosmetic restoration in China, the connotative characteristics of Chinese oral aesthetics are introduced in this paper, and the value of oral aesthetic analysis in diagnosis and treatment is discussed. The process and method of aesthetic analysis and assessment through the modified Chinese psychosocial impact of dental aesthetics questionnaire and the evaluation ruler of the expected value of oral cosmetic restoration are further introduced in detail.

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Expansion of newborn bloodspot screening (NBS) can increase health gain for more children but also increases the number of false-positive and uncertain results. The impact of abnormal and inconclusive NBS results on parental well-being and healthcare utilization was investigated. A questionnaire was sent to Dutch parents receiving an abnormal or inconclusive NBS result five weeks (T1) and four months (T2) post-NBS and compared to parents with a normal result (controls). In total, 35 true-positive (TP), 20 false-positive (FP), and 57 inconclusive (IC) participants and 268 controls filled out T1; 19 TP, 14 FP, 27 IC, and 116 controls filled out T2. Participants showed positive attitudes towards NBS. FP participants more often considered NBS less reliable. TP and FP participants experienced more negative emotions regarding the test result compared to controls at both T1 and T2, and IC only at T1. Parent-reported child vulnerability and perceptions of the newborn's health status and of parenthood showed no differences. TP and FP participants reported more healthcare utilization at T1, and mainly TP at T2. TP and IC participants showed more emergency department visits at T1. The findings can be used to improve NBS programs and optimize support for families with various NBS results.

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PURPOSE: This study investigates the psychosocial impact of eye-gaze assistive technology (EGAT) in both children and adults with long-term experience using eye-gaze assistive technology in everyday life, as well as the psychosocial impact as related to duration of use. METHODS: In this descriptive comparative study, 34 adult and 27 child EGAT users participated in a structured individual interview using the Psychosocial Impact of Assistive Devices Scale (PIADS). RESULTS: The participants' age ranged from 5-74 years, 50% were female and 52% had been diagnosed with cerebral palsy. The EGAT had a positive psychosocial impact on competence, adaptability, and self-esteem among adult and child users. Competence was the only subscale with a higher value for adults (p = 0.038), compared to children. The items with the highest impact for the psychosocial aspects were quality of life, ability to participate, and self-esteem. The adults had longer duration of use than children, but for high-, medium-, and low-duration users, the device showed a positive psychosocial impact. CONCLUSIONS: Participants considered EGAT to have high positive impacts for participation and quality of life. The study adds new knowledge in that high positive psychosocial impact may be found even among low-duration users of EGAT, which is important to consider for service providers.

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Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare. While physical manifestations have been widely discussed, the psychosocial impact and the importance of receiving a diagnosis have not been fully studied in the current literature. This survey study investigated the impact of diagnosis in hEDS patients, selected from the University of Miami's hEDS registry. Survey questions were formulated based on clinical expertise and literature review. Descriptive statistics, Mann-Whitney test, and Spearman's correlation were used for data analysis. The median age at symptom presentation was 10 years, with a median gap of 4 years before the initial medical evaluation. On average, it took 10 years to receive a diagnosis of hEDS. Nearly all participants (95.2%) expressed receiving a diagnosis as "important" or "highly important," with 81.9% agreeing that it helped them cope with their condition better, 76.8% could better manage their symptoms, and felt more in control of their long-term care. Participants mostly had a positive emotional reaction and experienced an improvement in the support they were receiving from their caregivers and healthcare providers after receiving a diagnosis of hEDS. This study demonstrates that receiving a diagnosis could positively impact the patient's support, quality of care, and overall well-being.

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