Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil

Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3661076/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 5 You are reading this latest preprint version Abstract Background The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers’ quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms demanding multidisciplinary care. This study employs a comprehensive approach to evaluate health service accessibility and the quality of life of caregivers of individuals with 22q11.2 DS. It utilizes a structured Survey and the WHOQOL-bref questionnaire for data collection. Results Individuals with 22q11.2 DS continue to receive incomplete clinical management after obtaining the diagnosis, even in the face of conditions that enabled an average age of diagnosis that precedes that found in sample groups that are more representative of the Brazilian population (mean of 3.2 versus 10, respectively). In turn, caring for individuals with 22q11.2 DS who face difficulty accessing health services impacts the perception of quality of life associated with the caregivers' environment of residence. Conclusions Results obtained help bridge the research gap in understanding how caring for individuals with multisystem clinical conditions such as 22q11.2 DS and difficulties in accessing health are intertwined with aspects of quality of life in Brazil. This research paves the way for more inclusive healthcare policies and interventions to enhance the quality of life for families affected by this syndrome. Health Service Accessibility Quality of life Rare genetic disease 22q11.2 Deletion Syndrome Health Equity Background The intricate landscape of 22q11.2 Deletion Syndrome (22q11.2 DS) brings various challenges, impacting individuals, families, and healthcare systems. Despite being a rare genetic disease, 22q11.2 DS is the most common microdeletion syndrome in humans ( 1 – 3 ), which underscores the importance of understanding and addressing the unique healthcare needs of those impacted. One critical aspect of this challenge is the access of families affected by the syndrome to health services ( 4 – 6 ). In this way, this paper explores and analyses the multifaceted issue of health service access in Brazil within the context of 22q11.2 DS. Spanning a diverse spectrum of signs and symptoms, 22q11.2 Deletion Syndrome can potentially involve almost every organ and body system ( 1 , 7 – 9 ). The complexity of 22q11.2 demands multidisciplinary and specialized care, including accurate diagnosis, appropriate treatment, and long-term support. In general, the evaluations recommended for adequate management over the different periods of development include pediatric/clinical, cardiac, nasopharyngeal, immunological, hematological, endocrinological, renal, audiological, ophthalmological, orthopedic, dental, psychiatric, gynecological, genetics and supportive therapies ( 10 – 12 ). The interplay between the syndrome's complexities and the challenges of navigating health services influences the quality of life of people with 22q11.2 DS and their caregivers ( 6 , 13 , 14 ). The access of individuals with rare genetic diseases in Brazil to the public health system is mainly through health centers and hospitals, generally not officially qualified to care for this population group ( 15 – 18 ). The public health policy in force for specialized assistance to this public is Ordinance Nº 199/2014/PNAIPDR. The Ordinance proposed that the care of individuals with rare diseases be comprehensive and coordinated between primary and specialized care to guarantee prevention, reception, diagnosis, treatment, and support until the resolution, follow-up, and rehabilitation of each case/patient. For this, rare diseases were grouped into two axes: axis 1, diseases of genetic origin, and axis 2, those of non-genetic origin. The Ordinance Nº 199/2014 provides for two types of services: specialized care services for rare diseases (SCSRD) and referral services for rare diseases (RSRD)( 19 ). The main differences between both services are related to the number of diseases treated and the minimum number of professionals required for their qualification. For example, SCSRD does not require a geneticist as part of the minimum team. The publication of Ordinance Nº. 199/2014 was a breakthrough for this population group. However, there are still critical gaps that prevent full access to health. These gaps permeate aspects such as disparities in the geographical distribution of services, a large proportion of authorized services not prepared to treat any rare diseases, absence of a geneticist in SCSRD, lack of integration between the Ordinance and the referral and counter-referral flows of patients, lack of data on rare diseases due to the non-obligation of registration and insufficient budget to cover the demand for diagnostic exams ( 17 , 18 , 20 – 22 ). Regarding the access of individuals with rare genetic diseases to public health services through health centers and hospitals not officially qualified through Ordinance No. 199/2014, the lack of funds earmarked for the cost of diagnostic tests and limitations of knowledge about rare genetic diseases on the part of health professionals, generates, as a consequence, delay in diagnosis and clinical management and the non-referral of this individual to specialized services ( 17 , 18 ). In Brazil, the average age at diagnosis is between 9.7 and 10 years of age ( 23 – 25 ) Despite the growing recognition of the unique challenges faced by individuals with rare genetic diseases to access public health services in Brazil, there remains a significant research hiatus in understanding how these gaps impact the clinical management of specific syndromes such as 22q11.2 DS. This hiatus also includes knowledge about the quality of life of caregivers of individuals with 22q11.2 DS. This paper aims to help bridge these gaps by comprehensively examining access to health services and clinical management of this population and the quality of life of their caregivers. The findings of this study hold implications for policymakers, healthcare practitioners, patient advocacy groups, and affected individuals and families. By elucidating the access to health services of individuals with 22q11.2 DS and the quality of life of their caregivers, this research can potentially guide the development of more inclusive healthcare policies and interventions that can enhance the quality of life for those families affected by this syndrome. Methods 1.1 Study Design: This article forms a crucial component of an extensive investigation study encompassing diverse approaches aimed at comprehending and assessing the health accessibility of families impacted by the 22q11.2 Deletion Syndrome. The outcomes derived from this research were presented in three articles, each focusing on distinct aspects of the study. The first one reports the trajectory of families until diagnosis ( 24 ) ( Part A ). This paper is the second one ( Part B ), which delves into the evaluation of health services accessibility and the quality of life experienced by parents and guardians. The third article, entitle “ Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil” ( Part C ), investigates health literacy accessibility among the affected families. Together, these articles contribute to a comprehensive understanding of the challenges faced by families dealing with 22q11.2 DS and offer valuable insights to guide future support and interventions. The study was approved by the Ethics Committee of the “Universidade Estadual de Campinas” (Unicamp) (CAAE: 2477419.1.0000.5404) and was conducted according to the guidelines of the Declaration of Helsinki and Resolution no. 466/12 of the Brazilian National Health Council. 1.2 Survey on Access to Health Services: A structured Survey comprising 68 questions was designed based on current literature on the diagnosis and clinical management of 22q11.2 DS. The Survey targeted parents or guardians of people with 22q11.2 DS interested in participating and internet access. There were no age or biological sex restrictions. Individuals diagnosed with less than one year of age had their age of diagnosis classified as zero. Based on the international recommendations of clinical management over the different developmental periods of an individual with 22q11.2 DS, the assessments available in the Survey to analyze the therapeutic itinerary after the diagnosis were: a) pediatric/clinical, b) cardiac, c) nasopharyngeal, d) immunological, e) endocrinological, f) renal, g) audiological, h) ophthalmological, i) orthopedic, j) psychiatric, k) genetic, l) hematological, m) gynecological and n) supportive evaluations. The assessment data shows that the individual performed one or more exams within that assessment category. 1.3 Caregiver’s Quality of Life To assess the caregiver’s perception of quality of life, we employed the structured questionnaire WHOQOL-bref. This tool, developed by the World Health Organization (WHO), has been validated in Portuguese and is widely used worldwide to assess quality of life, particularly in health-related contexts (FLECK, 2000; SEIDL; ZANNON, 2004). The WHOQOL-bref comprises 26 questions, with two general quality of life questions and 24 questions representing four domains: environment, physical health, psychological well-being, and social relationships. Each domain's final scores are transformed into a scale ranging from zero to 100, where 100 signifies a higher perception of quality of life. The WHOQOL-bref targeted parents or guardians of people with 22q11.2 DS interested in participating and internet access. There were no age or biological sex restrictions. The control group for comparative analysis of quality of life comprised parents of individuals without chronic disease. 1.4 Subject Recruitment Subject recruitment for both questionnaires occurred through various channels, including WhatsApp groups of parents and guardians of individuals with 22q11.2 DS, @cienciaesaude.sd22q11.2 pages on Instagram and Facebook, sites of the Faculty of Medical Sciences of “Universidade Estadual de Campinas”, Brazilian Society of Medical Genetics and Genomics, as well as during meetings and lectures related to 22q11.2 DS. Both were made available online from August 2020 until May 2023. All participants signed the Free and Informed Consent Form (FICF). Not all participants who responded to the Survey on Access to Health Services also completed the quality of life questionnaire, and vice versa. Therefore, comparative analyses between quality of life and access to health services were conducted using the sample group that answered both questionnaires. Thus, in this article, there are three different tables of sociodemographic characterization: one for the Survey on Access to Health Services, one for the WHOQOL-bref, and one for those who answered both. 1.5 Data analysis Frequency tables of categorical variables were created, with absolute frequency (n) and percentage (%) values and position and dispersion measures for numeric variables. When necessary, the chi-square or Fisher's exact test was used to compare categorical variables. To compare numerical measurements between 2 groups, the Mann-Whitney test was applied. Spearman's linear correlation coefficient was used to assess the relationship between 2 numerical variables. The significance level adopted was 5%. Results 2.1 Survey on access to health services 2.1. 1 General data of the casuistry In this approach, there were 65 caregiver participants, 61 mothers, three fathers, and one grandmother. Table 1 shows general aspects of them. Table 2 shows general aspects of individuals with 22q11.2 DS related to the 65 participants in the Survey. 2.1.2 Access to Health Services Among the 15 recommended assessments for proper management over the different developmental periods, 14 were included in the Survey. Data on access to gynecological evaluation and support therapies were analyzed separately. Tables 3, 4, 5, 6, and 7 describe access to different health services. Between the 12 recommended assessments evaluated together and available in the Survey, the average number of accesses per individual was 9.3 (minimum value equal to 5 and a maximum of 12, median = 9, s.d.=1.7). Among the six female individuals aged over 10 years, five had already undergone a gynecological evaluation. 2.1.3 Number of professionals accessed versus the need to travel to access them Individuals who reported the need to travel to access certain health professionals accessed more professionals compared to those who did not, corresponding to a mean of 9.4 versus 8.5 (p = 0.024) respectively. 2.1.4 Access to Health Services during COVID-19 pandemic Among the 63 participants who answered the question: "Did the COVID-19 pandemic change access to consultations or therapies for individuals with 22q11.2 DS?" 43 (68.3%) said yes, it did, and 20 (31.7%) said no. 2.2 Quality of Life 2.2.1 General data of the casuistry and control group In total, 55 caregivers’ (52 mothers, two fathers, and one grandmother) and 61 controls (57 mothers and four fathers) answered the WHOQOL-bref. Table 8 shows general aspects of them. 2.2.2 WHOQOL-bref data The original scores obtained in the different WHOQOL-bref domains from both the sample and control group are described in Table 9, including the values of the scores transformed into a scale ranging from 0 to 100. 2.3 Access to Health Services and QoL 2.3.1 General data of the casuistry In total, 53 caregivers’ answered both the WHOQOL-bref and the Survey on Access to Health Services, 50 mothers, two fathers, and one grandmother. Table 11 shows general aspects of them. 2.3.2 Access to Health Services and QoL Individuals who reported having difficulty getting care in some health specialty had a worse evaluation of the environment domain compared to those who had no difficulty, corresponding to a mean of 56.28 versus 65.8 (p = 0.024), respectively. Discussion Despite Brazil's population reaching 203.3 million ( 26 ) and the global prevalence estimate of 22q11.2 ( 27 , 28 ), the engagement in the approaches herein presented under-represent the target population in terms of distribution across Brazilian regions. Most participants were females from the Southeast of Brazil with at least completed higher school education. Regarding geographic distribution, 42.02% of the Brazilian population resides in the Southeast region, followed by 27.03% in the Northeast, 14.25% in the South, 8.86% in the North, and 7.83% in the Midwest ( 29 ). However, the proportion of participants from the North and Northeast regions was much lower than expected, while the number from the Southeast region exceeded expectations. First, this limited representation in the North and Northeast regions can be attributed to the scarcity of reference centers for diagnosis. In the Southeastern states, each state boasts at least one reference service, whereas the North has only one reference service among its seven states, and the Northeast, comprising nine states, has reference services in only four ( 30 ). Secondly, the concentration of medical geneticists is significantly lower in both the Northeast (14%) and the North (1.7%) compared to the Southeast (55.5%) ( 31 ). The resulting limited access to specialized disease centers and medical geneticists in these regions leads to delayed diagnosis and a lower proportion of diagnosed individuals compared to the Southeast ( 7 , 24 ). The current initiative within the Brazilian public health system (Unified Health System-SUS) for comprehensive care for people with rare genetic diseases is Ordinance GM/MS nº 199/2014/PNAIPDR ( 19 ). The overarching objective of PNAIPDR is to safeguard a continuum of care, spanning prevention, reception, diagnosis, treatment, sustained support until resolution, vigilant follow-up, and comprehensive rehabilitation for each case and patient. Crucially, the initiative fosters a seamless coordination between primary and specialized healthcare services. However, gaps must be overcome for this Ordinance to be fully implemented ( 17 , 18 ). Almost 100% of participants in the Health Survey reported that their relatives with 22q11.2DS access health services regularly, mainly through private health services. In Brazil, 71.5% of the population exclusively uses SUS, while 28.5% have some health plan ( 32 ). Primary and secondary health services are primarily provided via the public system, while tertiary services are provided mainly by private services ( 33 ). Studies indicate that individuals accessing private services have more success in obtaining care and a greater likelihood of using health services than those accessing public services ( 34 , 35 ). The recommended clinical management for individuals with 22q11.2 Deletion Syndrome primarily depends on secondary health services, with only medical genetics services included among tertiary services. The prevalence of private health service access reported by Survey participants may contribute to the average age of diagnosis of 22q11.2 DS in their family members being 3.2 years. However, earlier access to diagnosis did not translate to greater access to adequate genetic counseling, as 63.1% of the responses indicated that none of the parents had undergone a genetic test - a critical component for calculating recurrence risk and providing genetic counseling for the family ( 36 ). Among the participants, 53.8% reported that their family members with 22q11.2DS had difficulty accessing medical specialties. Their family members accessed 77.5% of the Health Survey's recommended health assessments for clinical management. Therefore, clinical management after diagnosis still needs to be improved in Brazil despite the greater ease of accessing health services via private services. A previous study noted that individuals in Brazil with a mean age of diagnosis of 9.7 years had accessed only 68.75% of the recommended health professionals for their clinical management until the time of diagnosis, based on the assessments available in the Brazilian Database on Craniofacial Anomalies (BDCA) ( 23 ). These data underscore that, beyond the challenges of accessing health services for rare genetic diseases ( 17 , 18 ), inadequate clinical management may also result from a lack of knowledge about this syndrome and its management among health professionals and a lack of coordination between different levels of care. It is essential to highlight that although there are already international management guides for 22q11.2 DS and a not formal one designed in Brazil, there still needs to be an official 22q11.2 management protocol within PNAIPDR. The health professionals least accessed in this study were psychiatrists and endocrinologists. Similarly, endocrinology was the least accessed specialty in the Survey of health assessments accessed up to the moment of diagnosis ( 24 ). These findings are noteworthy, given that up to 60% of individuals with 22q11.2DS may present hypocalcemia due to parathyroid gland deficiency ( 12 , 37 ). Psychiatric disorders, including attention deficit, anxiety, impulsivity, Autism Spectrum Disorders, and schizophrenia, are prevalent in up to 90% of individuals with 22q11.2DS, and initial signs are generally observable during childhood ( 12 , 38 – 41 ). The first access to a psychiatrist should ideally occur between 1 and 5 years of age, as early intervention can minimize and treat symptoms ( 11 ). In this study, among individuals with 22q11.2 DS diagnosed with a psychiatric disorder, only 66.7% had seen a psychiatrist, and 77.8% had seen a psychologist. Regarding the quality of life data, the results gleaned from this study underscore that caregivers of individuals with 22q11.2DS exhibit a lower quality of life across nearly all domains of the WHOQOL-bref questionnaire. This result aligns with other studies ( 42 – 47 ). The social relationships domain represented the lowest score in our sample. Similar results have already been observed in caregivers of individuals with illnesses with multiple complications. They are linked to mothers being often solo caregivers and having little social support, which can impact the establishment of interpersonal relationships ( 48 , 49 ). However, this was also the domain with the lowest score in the control group, which may be linked to cultural aspects and maternal burden in general, as the control group is primarily mothers. Further examination reveals that, when juxtaposed with each other, caregivers of individuals with 22q11.2DS who reported encountering difficulty accessing healthcare professionals for their family members exhibited a notably lower quality of life in the environmental domain than those who did not report such difficulties. The environmental domain is linked to feelings of security, finances, access to information and means of transport, and the physical environment of the residence ( 50 ). This correlation emphasizes the interconnectedness of healthcare access challenges and the quality of life experienced by caregivers in specific domains. Due to the complexity of 22q11.2 Deletion syndrome, caregiving for an individual with this diagnosis involves navigating numerous challenges. Caregivers' primary concerns typically emerge shortly after birth due to congenital changes that pose risks to the baby's life, such as cardiac changes, hypocalcemia, and palatal anomalies. Additional concerns arise after this period as other signs and symptoms become evident. Caregivers recurrently report anguish when contemplating the biopsychosocial insertion of their family member ( 6 , 51 , 52 ). Furthermore, taking care of an individual with 22q11.2DS in the face of late access to diagnosis and inadequate clinical management is even more challenging. Therefore, addressing the multifaceted needs of caregivers, including improving healthcare accessibility and support systems, becomes imperative in the overarching goal of enhancing the overall well-being of individuals with 22q11.2DS and those caring for them. In light of the proposal of Ordinance No. 199/2014/PNAIPDR, which aspires to ensure the universality, comprehensiveness, and equity of health interventions tailored to the unique requirements of each rare disease, obtaining a contextual diagnosis of health access for diverse rare diseases within the ongoing PNAIPDR implementation becomes essential. This diagnostic endeavor is pivotal for crafting strategies that surmount existing gaps hindering the realization of its objectives in full measure. The official management guide for 22q11.2 DS must also be registered within PNAIPDR. Regarding private health services, it is necessary to devise strategies to enhance health professionals' knowledge about 22q11.2 Deletion Syndrome. This initiative seeks to ensure that clinical management aligns with established recommendations and operates in a seamlessly coordinated manner. Limitations Adjustments were made to the sending format of the Survey and the WHOQOL-bref. Initially, they were sent together but in separate documents, including the FICF. However, after collecting responses only for the Survey or WHOQOL-bref, they were all combined into a single document, available for completion on the social networks created to publicize the project. This format did not allow the insertion of the confirmatory report of 22q11.2DS diagnosis for all participants. Therefore, confirmation of the diagnosis was based solely on answers to questions on this topic. Also, the participants reported the data obtained from memory, so there may be distortions in relation to reality. Conclusion Challenges in the North and Northeast regions possibly stem from a need for diagnostic reference centers and medical geneticists, leading to delayed diagnoses and undiagnosed individuals. While the current initiative, Ordinance GM/MS nº 199/2014/PNAIPDR, underscores a commitment to comprehensive care, gaps persist. The same can be said when it comes to private health services. The result is an inadequate clinical management of people with 22q11.2 DS. Quality of life data for caregivers reflects the broader impact of limited access to critical specialties, emphasizing the need for a holistic approach. Effective implementation of 22q11.2 DS requires concerted efforts to identify and address existing gaps and enhance healthcare accessibility and support systems. Abbreviations 22q11.2DS: 22q11.2 Deletion Syndrome; SCSRD: specialized care services for rare diseases; RSRD: referral services for rare diseases; Unicamp: Universidade Estadual de Campinas; WHO: World Health Organization; FICF: Free and Informed Consent Form; FISH: Fluorescence in situ hybridization; MLPA : Multiplex ligation-dependent probe amplification; NIPT: Non-invasive prenatal test; ADHD: Attention-deficit/hyperactivity disorder; SUS: Unified Health System; BDCA: Brazilian Database on Craniofacial Anomalies. Declarations Acknowledgments Patients and their families’ patience, cooperation and participation in the Brazil’s Craniofacial Project made this study feasible: We are grateful to them. Authors’ contributions All authors were involved in data collection and interpretation, reviewing and approving the manuscript for submission. Funding The Post Graduate Program in Medical Sciences is supported by Coordination for the Improvement of Higher Education Personnel - CAPES – (# 001). IMWS has a scholarship from the National Council for Scientific and Technological Development – CNPq (#140354/2020-4). The National Council for Scientific and Technological Development – CNPq also support VLGSL (#309782/2020-1). Availability of data and materials The datasets generated and/or analysed during the current study are not publicly available because it contains information from patients whose consent was given for specific use in this work. Ethics approval and consent to participate This study was approved by the Ethics Committee Board of the “Universidade Estadual de Campinas” (Unicamp), CAAE: 2477419.1.0000.5404. All participants or their legal guardians signed the informed consent form. Consent for publication Not applicable. Competing interests The authors declare that they have no competing interests. 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Rev Bras Epidemiol. 2014;17(SUPPL. 1):256–66. McDonald-McGinn DM. 22q11.2 deletion — a tiny piece leading to a big picture [Internet]. Vol. 6, Nature Reviews Disease Primers. Springer US; 2020. p. 10–1. Available at: http://dx.doi.org/10.1038/s41572-020-0169-x Monteiro F, Vieira T, Sgardioli I, Molck M, Damiano A, Souza J, et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013;172(7):927–45. McDonald-McGinn D, Emanue l B, Zackai E. 22q11 . 2 Deletion Syndrome. GeneReviews [Internet]. 2013;1–28. Available at: http://www.ncbi.nlm.nih.gov/pubmed/20301696 Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparsø T, Vangkilde A, et al. Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: A Danish nationwide, register-based study. JAMA Psychiatry. 2017;74(3):282–90. Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, Van Den Bree MBM, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. 2014;171(6):627–39. Munir KM. The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder. Curr Opin Psychiatry [Internet]. março de 2016;29(2):95–102. Available at: http://journals.lww.com/00001504-201603000-00003 Manee F, Ateya Y, Rassafiani M. A Comparison of the Quality of Life of Arab Mothers of Children with and without Chronic Disabilities. Phys Occup Ther Pediatr. 2016;36(3):260–71. Roncada C, Dias CP, Goecks S, Cidade SEF, Pitrez PMC. Usefulness of the WHOQOL-BREF questionnaire in assessing the quality of life of parents of children with asthma. Rev Paul Pediatr (English Ed [Internet]. 2015;33(3):267–73. Available at: http://dx.doi.org/10.1016/j.rppede.2015.06.008 Mello C, Rivard M, Terroux A, Mercier C. Quality of life in families of young children with autism spectrum disorder. Am J Intellect Dev Disabil. 2019;124(6):535–48. Lin JD, Hu J, Yen CF, Hsu SW, Lin LP, Loh CH, et al. Quality of life in caregivers of children and adolescents with intellectual disabilities: Use of WHOQOL-BREF Survey. Res Dev Disabil. 2009;30(6):1448–58. Majumdar R, Jain S. Comparison of Quality of Life of Caregivers of Children with and without Disabilities. J Clin Diagnostic Res. 2020;(November 2011):1–4. Ben Salah Frih Z, Boudoukhane S, Jellad A, Salah S, Rejeb N. Quality of life of parents of children with cerebral palsy. J Readapt Medicale. 2010;30(1):18–24. Guarany NR, Vanz AP, Wilke MVMB, Bender DD, Borges MD, Giugliani R, et al. Mucopolysaccharidosis: Caregiver quality of life. J Inborn Errors Metab Screen. 2015;2015(January-December):1–7. Kolari V, Raheli V. The Quality of Life of Caregivers of People with Type 2 Diabetes Estimated Using the WHOQOL-BREF Questionnaire. 2023;430–9. Fleck MPDA. O instrumento de avaliação de qualidade de vida da Organização Mundial da Saúde ( WHOQOL-100 ): características e perspectivas The World Health Organization instrument to evaluate quality of life ( WHOQOL-100 ): characteristics and perspectives. Cien Saude Colet. 2000;5(1):33–8. Briegel W, Schneider M, Schwab KO. 22q11.2 deletion syndrome: Behaviour problems of children and adolescents and parental stress. Child Care Health Dev. 2008;34(6):795–800. Goodwin J, Swaab L, Campbell LE. “She’ll be able to live independently… as long as I’m around”: The “lived” experience of parenting a child with 22q11.2 deletion syndrome in the transition to adulthood. J Appl Res Intellect Disabil. 2020;33(3):565–73. Tables Tables 1 to 11 are available in the Supplementary Files section. Supplementary Files Tables.docx Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Minor revision 14 Apr, 2024 Reviewers agreed at journal 04 Feb, 2024 Reviewers invited by journal 06 Dec, 2023 Editor assigned by journal 24 Nov, 2023 First submitted to journal 23 Nov, 2023 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-3661076","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":257071566,"identity":"2e4d1c4c-111d-4b44-a31f-32302ebcbf32","order_by":0,"name":"Isabela Mayá Wayhs Silva","email":"","orcid":"","institution":"Universidade Estadual de Campinas","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Isabela","middleName":"Mayá Wayhs","lastName":"Silva","suffix":""},{"id":257071567,"identity":"98679c67-f55e-4a86-9819-b7733b8d84a4","order_by":1,"name":"Vera Lúcia Gil-da-Silva-Lopes","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA2UlEQVRIiWNgGAWjYDACdjBpww/hGYBJNvxamMFkmmQDqVoOQ7UwEKHF4DDzsQcf/pyX4J92gE26oMBOXnd2A9vjCrxa2NINZ7bdlpC4ncAmPcMg2XDbnQPshmfwaJFs5jGT5m24XWcgDdTCY3CAcduNBDYUZ2LV8ufPOQmYFnuCWviZgVoY2A7AtSQSoQXol962ZKBfEputeQySk7fdOdhuiE8LG3vzsQc//thJ8M9OPnib54+d7bbbzcce4tPCgIgFRqg6CRiDsBYYkCCkYRSMglEwCkYaAABDSURvyAlxfQAAAABJRU5ErkJggg==","orcid":"https://orcid.org/0000-0003-1288-0554","institution":"Universidade Estadual de Campinas","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Vera","middleName":"Lúcia","lastName":"Gil-da-Silva-Lopes","suffix":""}],"badges":[],"createdAt":"2023-11-24 21:49:24","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3661076/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3661076/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":47875081,"identity":"b3f4e289-140e-4c77-98dd-909f1f2c01e9","added_by":"auto","created_at":"2023-12-08 18:44:03","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":362207,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3661076/v1/cda40224-db29-4d95-a13e-6cf08e334d4c.pdf"},{"id":47874838,"identity":"eaf7d7de-aaa9-4623-85e5-0086c36ac85d","added_by":"auto","created_at":"2023-12-08 18:36:03","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":3905636,"visible":true,"origin":"","legend":"","description":"","filename":"Tables.docx","url":"https://assets-eu.researchsquare.com/files/rs-3661076/v1/caec32d183fbcb721ecc9352.docx"}],"financialInterests":"","formattedTitle":"Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil","fulltext":[{"header":"Background","content":"\u003cp\u003eThe intricate landscape of 22q11.2 Deletion Syndrome (22q11.2 DS) brings various challenges, impacting individuals, families, and healthcare systems. Despite being a rare genetic disease, 22q11.2 DS is the most common microdeletion syndrome in humans (\u003cspan additionalcitationids=\"CR2\" citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e), which underscores the importance of understanding and addressing the unique healthcare needs of those impacted. One critical aspect of this challenge is the access of families affected by the syndrome to health services (\u003cspan additionalcitationids=\"CR5\" citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). In this way, this paper explores and analyses the multifaceted issue of health service access in Brazil within the context of 22q11.2 DS.\u003c/p\u003e \u003cp\u003eSpanning a diverse spectrum of signs and symptoms, 22q11.2 Deletion Syndrome can potentially involve almost every organ and body system (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan additionalcitationids=\"CR8\" citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e). The complexity of 22q11.2 demands multidisciplinary and specialized care, including accurate diagnosis, appropriate treatment, and long-term support. In general, the evaluations recommended for adequate management over the different periods of development include pediatric/clinical, cardiac, nasopharyngeal, immunological, hematological, endocrinological, renal, audiological, ophthalmological, orthopedic, dental, psychiatric, gynecological, genetics and supportive therapies (\u003cspan additionalcitationids=\"CR11\" citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e). The interplay between the syndrome's complexities and the challenges of navigating health services influences the quality of life of people with 22q11.2 DS and their caregivers (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e, \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe access of individuals with rare genetic diseases in Brazil to the public health system is mainly through health centers and hospitals, generally not officially qualified to care for this population group (\u003cspan additionalcitationids=\"CR16 CR17\" citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e). The public health policy in force for specialized assistance to this public is Ordinance N\u0026ordm; 199/2014/PNAIPDR. The Ordinance proposed that the care of individuals with rare diseases be comprehensive and coordinated between primary and specialized care to guarantee prevention, reception, diagnosis, treatment, and support until the resolution, follow-up, and rehabilitation of each case/patient. For this, rare diseases were grouped into two axes: axis 1, diseases of genetic origin, and axis 2, those of non-genetic origin.\u003c/p\u003e \u003cp\u003eThe Ordinance N\u0026ordm; 199/2014 provides for two types of services: specialized care services for rare diseases (SCSRD) and referral services for rare diseases (RSRD)(\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e). The main differences between both services are related to the number of diseases treated and the minimum number of professionals required for their qualification. For example, SCSRD does not require a geneticist as part of the minimum team.\u003c/p\u003e \u003cp\u003eThe publication of Ordinance N\u0026ordm;. 199/2014 was a breakthrough for this population group. However, there are still critical gaps that prevent full access to health. These gaps permeate aspects such as disparities in the geographical distribution of services, a large proportion of authorized services not prepared to treat any rare diseases, absence of a geneticist in SCSRD, lack of integration between the Ordinance and the referral and counter-referral flows of patients, lack of data on rare diseases due to the non-obligation of registration and insufficient budget to cover the demand for diagnostic exams (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e, \u003cspan additionalcitationids=\"CR21\" citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eRegarding the access of individuals with rare genetic diseases to public health services through health centers and hospitals not officially qualified through Ordinance No. 199/2014, the lack of funds earmarked for the cost of diagnostic tests and limitations of knowledge about rare genetic diseases on the part of health professionals, generates, as a consequence, delay in diagnosis and clinical management and the non-referral of this individual to specialized services (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e). In Brazil, the average age at diagnosis is between 9.7 and 10 years of age (\u003cspan additionalcitationids=\"CR24\" citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e)\u003c/p\u003e \u003cp\u003eDespite the growing recognition of the unique challenges faced by individuals with rare genetic diseases to access public health services in Brazil, there remains a significant research hiatus in understanding how these gaps impact the clinical management of specific syndromes such as 22q11.2 DS. This hiatus also includes knowledge about the quality of life of caregivers of individuals with 22q11.2 DS. This paper aims to help bridge these gaps by comprehensively examining access to health services and clinical management of this population and the quality of life of their caregivers.\u003c/p\u003e \u003cp\u003eThe findings of this study hold implications for policymakers, healthcare practitioners, patient advocacy groups, and affected individuals and families. By elucidating the access to health services of individuals with 22q11.2 DS and the quality of life of their caregivers, this research can potentially guide the development of more inclusive healthcare policies and interventions that can enhance the quality of life for those families affected by this syndrome.\u003c/p\u003e"},{"header":"Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\n\u003ch2\u003e1.1 Study Design:\u003c/h2\u003e\n\u003cp\u003eThis article forms a crucial component of an extensive investigation study encompassing diverse approaches aimed at comprehending and assessing the health accessibility of families impacted by the 22q11.2 Deletion Syndrome. The outcomes derived from this research were presented in three articles, each focusing on distinct aspects of the study. The first one reports the trajectory of families until diagnosis (\u003cspan class=\"CitationRef\"\u003e24\u003c/span\u003e) (\u003cstrong\u003ePart A\u003c/strong\u003e). This paper is the second one (\u003cstrong\u003ePart B\u003c/strong\u003e), which delves into the evaluation of health services accessibility and the quality of life experienced by parents and guardians. The third article, entitle \u0026ldquo;\u003cstrong\u003eExploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil\u0026rdquo;\u003c/strong\u003e (\u003cstrong\u003ePart C\u003c/strong\u003e), investigates health literacy accessibility among the affected families. Together, these articles contribute to a comprehensive understanding of the challenges faced by families dealing with 22q11.2 DS and offer valuable insights to guide future support and interventions.\u003c/p\u003e\n\u003cp\u003eThe study was approved by the Ethics Committee of the \u0026ldquo;Universidade Estadual de Campinas\u0026rdquo; (Unicamp) (CAAE: 2477419.1.0000.5404) and was conducted according to the guidelines of the Declaration of Helsinki and Resolution no. 466/12 of the Brazilian National Health Council.\u003c/p\u003e\n\u003c/div\u003e\n\u003ch2\u003e1.2 Survey on Access to Health Services:\u003c/h2\u003e\n\u003cp\u003eA structured Survey comprising 68 questions was designed based on current literature on the diagnosis and clinical management of 22q11.2 DS. The Survey targeted parents or guardians of people with 22q11.2 DS interested in participating and internet access. There were no age or biological sex restrictions. Individuals diagnosed with less than one year of age had their age of diagnosis classified as zero.\u003c/p\u003e\n\u003cp\u003eBased on the international recommendations of clinical management over the different developmental periods of an individual with 22q11.2 DS, the assessments available in the Survey to analyze the therapeutic itinerary after the diagnosis were: a) pediatric/clinical, b) cardiac, c) nasopharyngeal, d) immunological, e) endocrinological, f) renal, g) audiological, h) ophthalmological, i) orthopedic, j) psychiatric, k) genetic, l) hematological, m) gynecological and n) supportive evaluations. The assessment data shows that the individual performed one or more exams within that assessment category.\u003c/p\u003e\n\u003cdiv id=\"Sec5\" class=\"Section2\"\u003e\n\u003ch2\u003e1.3 Caregiver\u0026rsquo;s Quality of Life\u003c/h2\u003e\n\u003cp\u003eTo assess the caregiver\u0026rsquo;s perception of quality of life, we employed the structured questionnaire WHOQOL-bref. This tool, developed by the World Health Organization (WHO), has been validated in Portuguese and is widely used worldwide to assess quality of life, particularly in health-related contexts (FLECK, 2000; SEIDL; ZANNON, 2004).\u003c/p\u003e\n\u003cp\u003eThe WHOQOL-bref comprises 26 questions, with two general quality of life questions and 24 questions representing four domains: environment, physical health, psychological well-being, and social relationships. Each domain's final scores are transformed into a scale ranging from zero to 100, where 100 signifies a higher perception of quality of life.\u003c/p\u003e\n\u003cp\u003eThe WHOQOL-bref targeted parents or guardians of people with 22q11.2 DS interested in participating and internet access. There were no age or biological sex restrictions. The control group for comparative analysis of quality of life comprised parents of individuals without chronic disease.\u003c/p\u003e\n\u003c/div\u003e\n\u003cdiv id=\"Sec6\" class=\"Section2\"\u003e\n\u003ch2\u003e1.4 Subject Recruitment\u003c/h2\u003e\n\u003cp\u003eSubject recruitment for both questionnaires occurred through various channels, including WhatsApp groups of parents and guardians of individuals with 22q11.2 DS, @cienciaesaude.sd22q11.2 pages on Instagram and Facebook, sites of the Faculty of Medical Sciences of \u0026ldquo;Universidade Estadual de Campinas\u0026rdquo;, Brazilian Society of Medical Genetics and Genomics, as well as during meetings and lectures related to 22q11.2 DS. Both were made available online from August 2020 until May 2023. All participants signed the Free and Informed Consent Form (FICF).\u003c/p\u003e\n\u003cp\u003eNot all participants who responded to the Survey on Access to Health Services also completed the quality of life questionnaire, and vice versa. Therefore, comparative analyses between quality of life and access to health services were conducted using the sample group that answered both questionnaires. Thus, in this article, there are three different tables of sociodemographic characterization: one for the Survey on Access to Health Services, one for the WHOQOL-bref, and one for those who answered both.\u003c/p\u003e\n\u003c/div\u003e\n\u003cdiv id=\"Sec7\" class=\"Section2\"\u003e\n\u003ch2\u003e1.5 Data analysis\u003c/h2\u003e\n\u003cp\u003eFrequency tables of categorical variables were created, with absolute frequency (n) and percentage (%) values and position and dispersion measures for numeric variables.\u003c/p\u003e\n\u003cp\u003eWhen necessary, the chi-square or Fisher's exact test was used to compare categorical variables. To compare numerical measurements between 2 groups, the Mann-Whitney test was applied. Spearman's linear correlation coefficient was used to assess the relationship between 2 numerical variables. The significance level adopted was 5%.\u003c/p\u003e\n\u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec9\" class=\"Section2\"\u003e\n\u003ch2\u003e2.1 Survey on access to health services\u003c/h2\u003e\n\u003cp\u003e2.1. 1 General data of the casuistry\u003c/p\u003e\n\u003cp\u003eIn this approach, there were 65 caregiver participants, 61 mothers, three fathers, and one grandmother. Table\u0026nbsp;1 shows general aspects of them.\u003c/p\u003e\n\u003cp\u003eTable 2 shows general aspects of individuals with 22q11.2 DS related to the 65 participants in the Survey.\u003c/p\u003e\n\u003cp\u003e2.1.2 Access to Health Services\u003c/p\u003e\n\u003cp\u003eAmong the 15 recommended assessments for proper management over the different developmental periods, 14 were included in the Survey. Data on access to gynecological evaluation and support therapies were analyzed separately. Tables\u0026nbsp;3, 4, 5, 6, and 7 describe access to different health services.\u003c/p\u003e\n\u003cp\u003eBetween the 12 recommended assessments evaluated together and available in the Survey, the average number of accesses per individual was 9.3 (minimum value equal to 5 and a maximum of 12, median\u0026thinsp;=\u0026thinsp;9, s.d.=1.7).\u003c/p\u003e\n\u003cp\u003eAmong the six female individuals aged over 10 years, five had already undergone a gynecological evaluation.\u003c/p\u003e\n\u003cp\u003e2.1.3 Number of professionals accessed versus the need to travel to access them\u003c/p\u003e\n\u003cp\u003eIndividuals who reported the need to travel to access certain health professionals accessed more professionals compared to those who did not, corresponding to a mean of 9.4 versus 8.5 (p\u0026thinsp;=\u0026thinsp;0.024) respectively.\u003c/p\u003e\n\u003cp\u003e2.1.4 Access to Health Services during COVID-19 pandemic\u003c/p\u003e\n\u003cp\u003eAmong the 63 participants who answered the question: \"Did the COVID-19 pandemic change access to consultations or therapies for individuals with 22q11.2 DS?\" 43 (68.3%) said yes, it did, and 20 (31.7%) said no.\u003c/p\u003e\n\u003c/div\u003e\n\u003cdiv id=\"Sec10\" class=\"Section2\"\u003e\n\u003ch2\u003e2.2 Quality of Life\u003c/h2\u003e\n\u003cp\u003e2.2.1 General data of the casuistry and control group\u003c/p\u003e\n\u003cp\u003eIn total, 55 caregivers\u0026rsquo; (52 mothers, two fathers, and one grandmother) and 61 controls (57 mothers and four fathers) answered the WHOQOL-bref. Table\u0026nbsp;8 shows general aspects of them.\u003c/p\u003e\n\u003cp\u003e2.2.2 WHOQOL-bref data\u003c/p\u003e\n\u003cp\u003eThe original scores obtained in the different WHOQOL-bref domains from both the sample and control group are described in Table\u0026nbsp;9, including the values of the scores transformed into a scale ranging from 0 to 100.\u003c/p\u003e\n\u003c/div\u003e\n\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\n\u003ch2\u003e2.3 Access to Health Services and QoL\u003c/h2\u003e\n\u003cp\u003e2.3.1 General data of the casuistry\u003c/p\u003e\n\u003cdiv class=\"BlockQuote\"\u003e\n\u003cp\u003eIn total, 53 caregivers\u0026rsquo; answered both the WHOQOL-bref and the Survey on Access to Health Services, 50 mothers, two fathers, and one grandmother. Table\u0026nbsp;11 shows general aspects of them.\u003c/p\u003e\n\u003c/div\u003e\n\u003cp\u003e2.3.2 Access to Health Services and QoL\u003c/p\u003e\n\u003cp\u003eIndividuals who reported having difficulty getting care in some health specialty had a worse evaluation of the environment domain compared to those who had no difficulty, corresponding to a mean of 56.28 versus 65.8 (p\u0026thinsp;=\u0026thinsp;0.024), respectively.\u003c/p\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eDespite Brazil's population reaching 203.3\u0026nbsp;million (\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e) and the global prevalence estimate of 22q11.2 (\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e, \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e), the engagement in the approaches herein presented under-represent the target population in terms of distribution across Brazilian regions. Most participants were females from the Southeast of Brazil with at least completed higher school education.\u003c/p\u003e \u003cp\u003eRegarding geographic distribution, 42.02% of the Brazilian population resides in the Southeast region, followed by 27.03% in the Northeast, 14.25% in the South, 8.86% in the North, and 7.83% in the Midwest (\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e). However, the proportion of participants from the North and Northeast regions was much lower than expected, while the number from the Southeast region exceeded expectations.\u003c/p\u003e \u003cp\u003eFirst, this limited representation in the North and Northeast regions can be attributed to the scarcity of reference centers for diagnosis. In the Southeastern states, each state boasts at least one reference service, whereas the North has only one reference service among its seven states, and the Northeast, comprising nine states, has reference services in only four (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e). Secondly, the concentration of medical geneticists is significantly lower in both the Northeast (14%) and the North (1.7%) compared to the Southeast (55.5%) (\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e). The resulting limited access to specialized disease centers and medical geneticists in these regions leads to delayed diagnosis and a lower proportion of diagnosed individuals compared to the Southeast (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe current initiative within the Brazilian public health system (Unified Health System-SUS) for comprehensive care for people with rare genetic diseases is Ordinance GM/MS n\u0026ordm; 199/2014/PNAIPDR (\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e). The overarching objective of PNAIPDR is to safeguard a continuum of care, spanning prevention, reception, diagnosis, treatment, sustained support until resolution, vigilant follow-up, and comprehensive rehabilitation for each case and patient. Crucially, the initiative fosters a seamless coordination between primary and specialized healthcare services. However, gaps must be overcome for this Ordinance to be fully implemented (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eAlmost 100% of participants in the Health Survey reported that their relatives with 22q11.2DS access health services regularly, mainly through private health services. In Brazil, 71.5% of the population exclusively uses SUS, while 28.5% have some health plan (\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e). Primary and secondary health services are primarily provided via the public system, while tertiary services are provided mainly by private services (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e). Studies indicate that individuals accessing private services have more success in obtaining care and a greater likelihood of using health services than those accessing public services (\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e, \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe recommended clinical management for individuals with 22q11.2 Deletion Syndrome primarily depends on secondary health services, with only medical genetics services included among tertiary services. The prevalence of private health service access reported by Survey participants may contribute to the average age of diagnosis of 22q11.2 DS in their family members being 3.2 years. However, earlier access to diagnosis did not translate to greater access to adequate genetic counseling, as 63.1% of the responses indicated that none of the parents had undergone a genetic test - a critical component for calculating recurrence risk and providing genetic counseling for the family (\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eAmong the participants, 53.8% reported that their family members with 22q11.2DS had difficulty accessing medical specialties. Their family members accessed 77.5% of the Health Survey's recommended health assessments for clinical management. Therefore, clinical management after diagnosis still needs to be improved in Brazil despite the greater ease of accessing health services via private services. A previous study noted that individuals in Brazil with a mean age of diagnosis of 9.7 years had accessed only 68.75% of the recommended health professionals for their clinical management until the time of diagnosis, based on the assessments available in the Brazilian Database on Craniofacial Anomalies (BDCA) (\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThese data underscore that, beyond the challenges of accessing health services for rare genetic diseases (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e), inadequate clinical management may also result from a lack of knowledge about this syndrome and its management among health professionals and a lack of coordination between different levels of care. It is essential to highlight that although there are already international management guides for 22q11.2 DS and a not formal one designed in Brazil, there still needs to be an official 22q11.2 management protocol within PNAIPDR.\u003c/p\u003e \u003cp\u003eThe health professionals least accessed in this study were psychiatrists and endocrinologists. Similarly, endocrinology was the least accessed specialty in the Survey of health assessments accessed up to the moment of diagnosis (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e). These findings are noteworthy, given that up to 60% of individuals with 22q11.2DS may present hypocalcemia due to parathyroid gland deficiency (\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e).\u003c/p\u003e \u003cp\u003ePsychiatric disorders, including attention deficit, anxiety, impulsivity, Autism Spectrum Disorders, and schizophrenia, are prevalent in up to 90% of individuals with 22q11.2DS, and initial signs are generally observable during childhood (\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan additionalcitationids=\"CR39 CR40\" citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e). The first access to a psychiatrist should ideally occur between 1 and 5 years of age, as early intervention can minimize and treat symptoms (\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e). In this study, among individuals with 22q11.2 DS diagnosed with a psychiatric disorder, only 66.7% had seen a psychiatrist, and 77.8% had seen a psychologist. Regarding the quality of life data, the results gleaned from this study underscore that caregivers of individuals with 22q11.2DS exhibit a lower quality of life across nearly all domains of the WHOQOL-bref questionnaire. This result aligns with other studies (\u003cspan additionalcitationids=\"CR43 CR44 CR45 CR46\" citationid=\"CR42\" class=\"CitationRef\"\u003e42\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR47\" class=\"CitationRef\"\u003e47\u003c/span\u003e). The social relationships domain represented the lowest score in our sample. Similar results have already been observed in caregivers of individuals with illnesses with multiple complications. They are linked to mothers being often solo caregivers and having little social support, which can impact the establishment of interpersonal relationships (\u003cspan citationid=\"CR48\" class=\"CitationRef\"\u003e48\u003c/span\u003e, \u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e49\u003c/span\u003e). However, this was also the domain with the lowest score in the control group, which may be linked to cultural aspects and maternal burden in general, as the control group is primarily mothers.\u003c/p\u003e \u003cp\u003eFurther examination reveals that, when juxtaposed with each other, caregivers of individuals with 22q11.2DS who reported encountering difficulty accessing healthcare professionals for their family members exhibited a notably lower quality of life in the environmental domain than those who did not report such difficulties. The environmental domain is linked to feelings of security, finances, access to information and means of transport, and the physical environment of the residence (\u003cspan citationid=\"CR50\" class=\"CitationRef\"\u003e50\u003c/span\u003e). This correlation emphasizes the interconnectedness of healthcare access challenges and the quality of life experienced by caregivers in specific domains.\u003c/p\u003e \u003cp\u003eDue to the complexity of 22q11.2 Deletion syndrome, caregiving for an individual with this diagnosis involves navigating numerous challenges. Caregivers' primary concerns typically emerge shortly after birth due to congenital changes that pose risks to the baby's life, such as cardiac changes, hypocalcemia, and palatal anomalies. Additional concerns arise after this period as other signs and symptoms become evident. Caregivers recurrently report anguish when contemplating the biopsychosocial insertion of their family member (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR51\" class=\"CitationRef\"\u003e51\u003c/span\u003e, \u003cspan citationid=\"CR52\" class=\"CitationRef\"\u003e52\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eFurthermore, taking care of an individual with 22q11.2DS in the face of late access to diagnosis and inadequate clinical management is even more challenging. Therefore, addressing the multifaceted needs of caregivers, including improving healthcare accessibility and support systems, becomes imperative in the overarching goal of enhancing the overall well-being of individuals with 22q11.2DS and those caring for them.\u003c/p\u003e \u003cp\u003eIn light of the proposal of Ordinance No. 199/2014/PNAIPDR, which aspires to ensure the universality, comprehensiveness, and equity of health interventions tailored to the unique requirements of each rare disease, obtaining a contextual diagnosis of health access for diverse rare diseases within the ongoing PNAIPDR implementation becomes essential. This diagnostic endeavor is pivotal for crafting strategies that surmount existing gaps hindering the realization of its objectives in full measure. The official management guide for 22q11.2 DS must also be registered within PNAIPDR.\u003c/p\u003e \u003cp\u003eRegarding private health services, it is necessary to devise strategies to enhance health professionals' knowledge about 22q11.2 Deletion Syndrome. This initiative seeks to ensure that clinical management aligns with established recommendations and operates in a seamlessly coordinated manner.\u003c/p\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eLimitations\u003c/h2\u003e \u003cp\u003eAdjustments were made to the sending format of the Survey and the WHOQOL-bref. Initially, they were sent together but in separate documents, including the FICF. However, after collecting responses only for the Survey or WHOQOL-bref, they were all combined into a single document, available for completion on the social networks created to publicize the project. This format did not allow the insertion of the confirmatory report of 22q11.2DS diagnosis for all participants. Therefore, confirmation of the diagnosis was based solely on answers to questions on this topic. Also, the participants reported the data obtained from memory, so there may be distortions in relation to reality.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eChallenges in the North and Northeast regions possibly stem from a need for diagnostic reference centers and medical geneticists, leading to delayed diagnoses and undiagnosed individuals. While the current initiative, Ordinance GM/MS n\u0026ordm; 199/2014/PNAIPDR, underscores a commitment to comprehensive care, gaps persist. The same can be said when it comes to private health services. The result is an inadequate clinical management of people with 22q11.2 DS. Quality of life data for caregivers reflects the broader impact of limited access to critical specialties, emphasizing the need for a holistic approach. Effective implementation of 22q11.2 DS requires concerted efforts to identify and address existing gaps and enhance healthcare accessibility and support systems.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003e22q11.2DS: 22q11.2 Deletion Syndrome; SCSRD: specialized care services for rare diseases; RSRD: referral services for rare diseases; Unicamp: Universidade Estadual de Campinas; WHO: World Health Organization; FICF: Free and Informed Consent Form; FISH: Fluorescence in situ hybridization; MLPA : Multiplex ligation-dependent probe amplification; NIPT: Non-invasive prenatal test; ADHD: Attention-deficit/hyperactivity disorder; SUS: Unified Health System; BDCA: Brazilian Database on Craniofacial Anomalies.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003ePatients and their families\u0026rsquo; patience, cooperation and participation in the Brazil\u0026rsquo;s Craniofacial Project made this study feasible: We are grateful to them.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors\u0026rsquo; contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll authors were involved in data collection and interpretation, reviewing and approving the manuscript for submission.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe Post Graduate Program in Medical Sciences is supported by\u0026nbsp;Coordination for the Improvement of Higher Education Personnel -\u0026nbsp;CAPES \u0026ndash; (# 001). IMWS has a scholarship from the National Council for Scientific and Technological Development \u0026ndash; CNPq (#140354/2020-4). The National Council for Scientific and Technological Development \u0026ndash; CNPq also support VLGSL (#309782/2020-1).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe datasets generated and/or analysed during the current study are not publicly available because it contains information from patients whose consent was given for specific use in this work.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was approved by the Ethics Committee Board of the \u0026ldquo;Universidade Estadual de Campinas\u0026rdquo; (Unicamp), CAAE: 2477419.1.0000.5404. All participants or their legal guardians signed the informed consent form.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor\u0026rsquo;s information\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eMcDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22Q11.2 Deletion Syndrome. Nat Rev Dis Prim. 2015;1:621-626.e1. \u003c/li\u003e\n\u003cli\u003eGrati FR, Molina Gomes D, Ferreira JCPB, Dupont C, Alesi V, Gouas L, et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn [Internet]. 1 de agosto de 2015 [citado 26 de julho de 2023];35(8):801\u0026ndash;9. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/pd.4613\u003c/li\u003e\n\u003cli\u003eFomin ABF, Pastorino AC, Kim CA, Pereira AC, Carneiro-Sampaio M, Abe Jacob CM. DiGeorge Syndrome: A not so rare disease. Clinics. 2010;65(9):865\u0026ndash;9. \u003c/li\u003e\n\u003cli\u003eVieira T, Sgardioli IC, Gil-da-Silva-Lopes V. Genetics and public health: The experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing. J Community Genet. 2013;4(1):99\u0026ndash;106. \u003c/li\u003e\n\u003cli\u003eAbu-Ghname A, Perdanasari AT, Raj S, Seema J, Wilson KD, Maricevich RS. Access to Multidisciplinary Care for Patients With 22q11.2 Deletion Syndrome: Identifying Breakdowns in the Screening Process. 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Clinical manifestations of Deletion 22q11 . 2 syndrome ( DiGeorge / Velo- Cardio-Facial syndrome ) Congenital heart defects. Images Paediatr Cardiol. 2019;7(2):23\u0026ndash;34. \u003c/li\u003e\n\u003cli\u003eLoo JCY, Crowley TB, Boot E, Orchanian-cheff A, Andrade DM, Arganbright JM, et al. Updated clinical practice recommendations for managing adults with 22q11 . 2 deletion syndrome. 2023; \u003c/li\u003e\n\u003cli\u003e\u0026Oacute;skarsd\u0026oacute;ttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023;25(3). \u003c/li\u003e\n\u003cli\u003eGil-da-Silva-Lopes V, Lustosa-Mendes E, Monteiro F. Guia de manejo cl\u0026iacute;nico para pacientes com S\u0026iacute;ndrome de Dele\u0026ccedil;\u0026atilde;o 22q11.2. Campinas; 2014. p. 1\u0026ndash;29. \u003c/li\u003e\n\u003cli\u003eJoyce P, O\u0026rsquo;Rourke C, McDermott B, Heussler H. 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Avan\u0026ccedil;os e Desafios na implementa\u0026ccedil;\u0026atilde;o da Portaria GM/MS N\u003csup\u003eo\u003c/sup\u003e 199/2014 no Sistema \u0026Uacute;nico de Sa\u0026uacute;de (SUS). 2021;1\u0026ndash;55. \u003c/li\u003e\n\u003cli\u003eSaude M da. Diretrizes para Aten\u0026ccedil;\u0026atilde;o Integral \u0026agrave;s Pessoas com Doen\u0026ccedil;as Raras no Sistema \u0026Uacute;nico de Sa\u0026uacute;de - SUS. Minist da Saude - Portaria [Internet]. 2014;41. Available at: http://conitec.gov.br/images/Protocolos/Diretrizes_Atencao-DoencasRaras.pdf\u003c/li\u003e\n\u003cli\u003eAith F. O direito \u0026agrave; sa\u0026uacute;de e a pol\u0026iacute;tica nacional de aten\u0026ccedil;\u0026atilde;o integral aos portadores de doen\u0026ccedil;as raras no Brasil. J Bras Econ Sa\u0026uacute;de. 2014;Supl.(1)(11):4\u0026ndash;12. \u003c/li\u003e\n\u003cli\u003eIriart JAB, Nucci MF, Muniz TP, Viana GB, Aureliano W de A, Gibbon S. From the search for diagnosis to treatment uncertainties: Challenges of care for rare genetic diseases in Brazil. Cienc e Saude Coletiva. 2019;24(10):3637\u0026ndash;50. \u003c/li\u003e\n\u003cli\u003eAureliano W. Trajet\u0026oacute;rias Terap\u0026ecirc;uticas Familiares: doen\u0026ccedil;as raras heredit\u0026aacute;rias como sofrimento de longa dura\u0026ccedil;\u0026atilde;o. Cien Saude Colet [Internet]. 2018;23(2):369\u0026ndash;80. Available at: http://www.scielo.br/scielo.php?script=sci_arttext\u0026amp;pid=S1413-81232018000200369\u0026amp;lng=pt\u0026amp;tlng=pt\u003c/li\u003e\n\u003cli\u003eVieira TP, Monteiro FP, Sgardioli IC, Souza J, Fett-Conte AC, Monlle\u0026oacute; IL, et al. Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities. Cleft Palate-Craniofacial J. 2015;52(4):411\u0026ndash;6. \u003c/li\u003e\n\u003cli\u003eSilva IMW, Gil-da-Silva-Lopes VL. An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis. Orphanet J Rare Dis [Internet]. 2022;17(1):1\u0026ndash;8. Available at: https://doi.org/10.1186/s13023-022-02225-9\u003c/li\u003e\n\u003cli\u003eGrassi MS, Jacob CMA, Kulikowski LD, Pastorino AC, Dutra RL, Miura N, et al. Congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion. Arq Bras Cardiol. 2014;103(5):382\u0026ndash;90. \u003c/li\u003e\n\u003cli\u003eIBGE IB de G e E. Primeiros Resultados de Popula\u0026ccedil;\u0026atilde;o do Censo Demogr\u0026aacute;fico 2022 Primeiros Resultados de Popula\u0026ccedil;\u0026atilde;o do Censo Demogr\u0026aacute;fico 2022. 2023;2022. \u003c/li\u003e\n\u003cli\u003eBlagojevic C, Heung T, Theriault M, Tomita-Mitchell A, Chakraborty P, Kernohan K, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. C open. 2021;9(3):E802\u0026ndash;9. \u003c/li\u003e\n\u003cli\u003eGrati FR, Molina Gomes D, Ferreira JCPB, Dupont C, Alesi V, Gouas L, et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn. 2015;35(8):801\u0026ndash;9. \u003c/li\u003e\n\u003cli\u003eIBGE - Instituto Brasileiro de Geografia e Estat\u0026iacute;sticaIBGE. Estimativas da popula\u0026ccedil;\u0026atilde;o residente no Brasil e unidades da Federa\u0026ccedil;\u0026atilde;o. 2021;(3). \u003c/li\u003e\n\u003cli\u003eMinist\u0026eacute;rio da Sa\u0026uacute;de. Centros de refer\u0026ecirc;ncia em doen\u0026ccedil;as raras. 2021;1\u0026ndash;20. \u003c/li\u003e\n\u003cli\u003eScheffer M et al. Demografia M\u0026eacute;dica no Brasil 2023 [Internet]. Vol. 344, FMUSP, AMB. 2023. Available at: https://www.ptonline.com/articles/how-to-get-better-mfi-results%[email protected]\u003c/li\u003e\n\u003cli\u003eIBGE - Instituto Brasileiro de Geografia e Estat\u0026iacute;stica. Pesquisa Nacional de Sa\u0026uacute;de 2019: informa\u0026ccedil;\u0026otilde;es sobre domic\u0026iacute;lios, acesso e utiliza\u0026ccedil;\u0026atilde;o dos servi\u0026ccedil;os de sa\u0026uacute;de [Internet]. Instituto Brasileiro de Geografia e Estatistica- IBGE. 2019. 31\u0026ndash;33 p. Available at: http://biblioteca.ibge.gov.br/visualizacao/livros/liv91110.pdf\u003c/li\u003e\n\u003cli\u003eStraub M, Gomes RM, Albuquerque GSC de. O conflito p\u0026uacute;blico-privado no SUS: a aten\u0026ccedil;\u0026atilde;o ambulatorial especializada no Paran\u0026aacute;. Sa\u0026uacute;de em Debate. 2021;45(131):1033\u0026ndash;48. \u003c/li\u003e\n\u003cli\u003eTravassos C, Viacava F, Fernandes C, Almeida CM. Desigualdades geogr\u0026aacute;ficas e sociais na utiliza\u0026ccedil;\u0026atilde;o de servi\u0026ccedil;os de sa\u0026uacute;de no Brasil * Social and geographical inequalities in health services utilization in Brazil. Ci\u0026ecirc;ncias \u0026amp; S\u0026aacute;ude Coletiva. 1997;133\u0026ndash;49. \u003c/li\u003e\n\u003cli\u003eCastanheira CHC, Pimenta AM, Lana FCF, Malta DC. Utiliza\u0026ccedil;\u0026atilde;o de servi\u0026ccedil;os p\u0026uacute;blicos e privados de sa\u0026uacute;de pela popula\u0026ccedil;\u0026atilde;o de Belo Horizonte. Rev Bras Epidemiol. 2014;17(SUPPL. 1):256\u0026ndash;66. \u003c/li\u003e\n\u003cli\u003eMcDonald-McGinn DM. 22q11.2 deletion \u0026mdash; a tiny piece leading to a big picture [Internet]. Vol. 6, Nature Reviews Disease Primers. Springer US; 2020. p. 10\u0026ndash;1. Available at: http://dx.doi.org/10.1038/s41572-020-0169-x\u003c/li\u003e\n\u003cli\u003eMonteiro F, Vieira T, Sgardioli I, Molck M, Damiano A, Souza J, et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013;172(7):927\u0026ndash;45. \u003c/li\u003e\n\u003cli\u003eMcDonald-McGinn D, Emanue l B, Zackai E. 22q11 . 2 Deletion Syndrome. GeneReviews [Internet]. 2013;1\u0026ndash;28. Available at: http://www.ncbi.nlm.nih.gov/pubmed/20301696\u003c/li\u003e\n\u003cli\u003eHoeffding LK, Trabjerg BB, Olsen L, Mazin W, Spars\u0026oslash; T, Vangkilde A, et al. Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: A Danish nationwide, register-based study. JAMA Psychiatry. 2017;74(3):282\u0026ndash;90. \u003c/li\u003e\n\u003cli\u003eSchneider M, Debban\u0026eacute; M, Bassett AS, Chow EWC, Fung WLA, Van Den Bree MBM, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. 2014;171(6):627\u0026ndash;39. \u003c/li\u003e\n\u003cli\u003eMunir KM. The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder. Curr Opin Psychiatry [Internet]. mar\u0026ccedil;o de 2016;29(2):95\u0026ndash;102. Available at: http://journals.lww.com/00001504-201603000-00003\u003c/li\u003e\n\u003cli\u003eManee F, Ateya Y, Rassafiani M. A Comparison of the Quality of Life of Arab Mothers of Children with and without Chronic Disabilities. Phys Occup Ther Pediatr. 2016;36(3):260\u0026ndash;71. \u003c/li\u003e\n\u003cli\u003eRoncada C, Dias CP, Goecks S, Cidade SEF, Pitrez PMC. Usefulness of the WHOQOL-BREF questionnaire in assessing the quality of life of parents of children with asthma. Rev Paul Pediatr (English Ed [Internet]. 2015;33(3):267\u0026ndash;73. Available at: http://dx.doi.org/10.1016/j.rppede.2015.06.008\u003c/li\u003e\n\u003cli\u003eMello C, Rivard M, Terroux A, Mercier C. Quality of life in families of young children with autism spectrum disorder. Am J Intellect Dev Disabil. 2019;124(6):535\u0026ndash;48. \u003c/li\u003e\n\u003cli\u003eLin JD, Hu J, Yen CF, Hsu SW, Lin LP, Loh CH, et al. Quality of life in caregivers of children and adolescents with intellectual disabilities: Use of WHOQOL-BREF Survey. Res Dev Disabil. 2009;30(6):1448\u0026ndash;58. \u003c/li\u003e\n\u003cli\u003eMajumdar R, Jain S. Comparison of Quality of Life of Caregivers of Children with and without Disabilities. J Clin Diagnostic Res. 2020;(November 2011):1\u0026ndash;4. \u003c/li\u003e\n\u003cli\u003eBen Salah Frih Z, Boudoukhane S, Jellad A, Salah S, Rejeb N. Quality of life of parents of children with cerebral palsy. J Readapt Medicale. 2010;30(1):18\u0026ndash;24. \u003c/li\u003e\n\u003cli\u003eGuarany NR, Vanz AP, Wilke MVMB, Bender DD, Borges MD, Giugliani R, et al. Mucopolysaccharidosis: Caregiver quality of life. J Inborn Errors Metab Screen. 2015;2015(January-December):1\u0026ndash;7. \u003c/li\u003e\n\u003cli\u003eKolari V, Raheli V. The Quality of Life of Caregivers of People with Type 2 Diabetes Estimated Using the WHOQOL-BREF Questionnaire. 2023;430\u0026ndash;9. \u003c/li\u003e\n\u003cli\u003eFleck MPDA. O instrumento de avalia\u0026ccedil;\u0026atilde;o de qualidade de vida da Organiza\u0026ccedil;\u0026atilde;o Mundial da Sa\u0026uacute;de ( WHOQOL-100 ): caracter\u0026iacute;sticas e perspectivas The World Health Organization instrument to evaluate quality of life ( WHOQOL-100 ): characteristics and perspectives. Cien Saude Colet. 2000;5(1):33\u0026ndash;8. \u003c/li\u003e\n\u003cli\u003eBriegel W, Schneider M, Schwab KO. 22q11.2 deletion syndrome: Behaviour problems of children and adolescents and parental stress. Child Care Health Dev. 2008;34(6):795\u0026ndash;800. \u003c/li\u003e\n\u003cli\u003eGoodwin J, Swaab L, Campbell LE. \u0026ldquo;She\u0026rsquo;ll be able to live independently\u0026hellip; as long as I\u0026rsquo;m around\u0026rdquo;: The \u0026ldquo;lived\u0026rdquo; experience of parenting a child with 22q11.2 deletion syndrome in the transition to adulthood. J Appl Res Intellect Disabil. 2020;33(3):565\u0026ndash;73. \u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003eTables 1 to 11 are available in the Supplementary Files section.\u003c/p\u003e "}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":true,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"orphanet-journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"ojrd","sideBox":"Learn more about [Orphanet Journal of Rare Diseases](http://ojrd.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/ojrd/default.aspx","title":"Orphanet Journal of Rare Diseases","twitterHandle":"@bmc","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"BMC/SO AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Health Service Accessibility, Quality of life, Rare genetic disease, 22q11.2 Deletion Syndrome, Health Equity","lastPublishedDoi":"10.21203/rs.3.rs-3661076/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3661076/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eThe 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers\u0026rsquo; quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms demanding multidisciplinary care. This study employs a comprehensive approach to evaluate health service accessibility and the quality of life of caregivers of individuals with 22q11.2 DS. It utilizes a structured Survey and the WHOQOL-bref questionnaire for data collection.\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eIndividuals with 22q11.2 DS continue to receive incomplete clinical management after obtaining the diagnosis, even in the face of conditions that enabled an average age of diagnosis that precedes that found in sample groups that are more representative of the Brazilian population (mean of 3.2 \u003cem\u003eversus\u003c/em\u003e 10, respectively). In turn, caring for individuals with 22q11.2 DS who face difficulty accessing health services impacts the perception of quality of life associated with the caregivers' environment of residence.\u003c/p\u003e\u003ch2\u003eConclusions\u003c/h2\u003e \u003cp\u003e Results obtained help bridge the research gap in understanding how caring for individuals with multisystem clinical conditions such as 22q11.2 DS and difficulties in accessing health are intertwined with aspects of quality of life in Brazil. This research paves the way for more inclusive healthcare policies and interventions to enhance the quality of life for families affected by this syndrome.\u003c/p\u003e","manuscriptTitle":"Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11.2 Deletion Syndrome in Brazil","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2023-12-08 18:35:58","doi":"10.21203/rs.3.rs-3661076/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Minor revision","date":"2024-04-14T04:42:45+00:00","index":"","fulltext":""},{"type":"reviewerAgreed","content":"","date":"2024-02-04T11:42:18+00:00","index":0,"fulltext":""},{"type":"reviewersInvited","content":"","date":"2023-12-06T06:10:03+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2023-11-24T14:09:06+00:00","index":"","fulltext":""},{"type":"submitted","content":"Orphanet Journal of Rare Diseases","date":"2023-11-23T14:00:47+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"orphanet-journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"ojrd","sideBox":"Learn more about [Orphanet Journal of Rare Diseases](http://ojrd.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/ojrd/default.aspx","title":"Orphanet Journal of Rare Diseases","twitterHandle":"@bmc","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"BMC/SO AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"3e720663-8571-4fb1-add6-e21e4ab5c319","owner":[],"postedDate":"December 8th, 2023","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2024-07-01T15:25:22+00:00","versionOfRecord":[],"versionCreatedAt":"2023-12-08 18:35:58","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-3661076","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3661076","identity":"rs-3661076","version":["v1"]},"buildId":"FbvkV6FR0MCFSLy54lSbu","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}