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BackgroundThe development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support.MethodsAs part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process.ResultsA total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older).ConclusionsFamilies of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child's continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.

Objectives: Postural orthostatic tachycardia syndrome (POTS) is a debilitating and under‐recognized condition of the autonomic nervous system. This study applied Leventhal's Common‐Sense Model of Illness Representations to explore the journey to a diagnosis of POTS and to understand its relevance to poorly understood conditions which have common comorbidities. Design: An inductive qualitative approach was used to explore the processes by which patients formulate explanations and management of symptoms within the search for a diagnostic label and to investigate illness identity in the context of existing diagnoses or multimorbidity. Methods: Participants (n = 29) for this nested qualitative study were recruited from a larger longitudinal study of people who had been newly referred to a specialist POTS service. Semi‐structured interviews were conducted via video call. Three researchers coded and analysed data using Reflexive Thematic Analysis and elements of Grounded Theory. Results: The analysis resulted in three overarching themes: 'Seeking physiological coherence and validation', 'Individual persistence', and 'Navigating the cumulative burden'. 'Accessibility and disparities of health care' was noted as a contextual factor. Receiving a POTS diagnosis was regarded by participants as providing legitimacy and increased access to treatment. Overall, delays in the diagnostic journey and the lack of a clear diagnosis impacted negatively on patients through increased uncertainty and a lack of clear guidance on how to manage symptoms. Findings also suggested there were great complexities in assigning symptoms to labels in the context of multimorbidity. Conclusions: Participants' stories highlighted the urgent need for better recognition of POTS so that the self‐regulatory process can be initiated from the early stages of symptom detection. [ABSTRACT FROM AUTHOR]

Abstract Background The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of various NDDs. However, diagnostic genetics has far outpaced our ability to provide timely medical counseling, guidance, and care for patients with genetically defined NDDs. These patients and their caregivers present with an unmet need for care coordination across multiple domains including medical, developmental, and psychiatric care and for educational resources and guidance from care professionals. After a genetic diagnosis is made, families also face several barriers in access to informed diagnostic evaluations and medical support. Methods As part of Care and Research in Neurogenetics (CARING), a multidisciplinary clinical program for children and adults with neurogenetic disorders, we conducted qualitative clinical interviews about the diagnostic journey of families. This included the overall timeline to receiving diagnoses, experiences before and after diagnosis, barriers to care, and resources that helped them to navigate the diagnostic process. Results A total of 37 interviews were conducted with parents of children ages 16 months to 33 years. Several key themes were identified: (1) delays between initial caregiver observations and formal developmental or genetic diagnoses; (2) practical barriers to clinical evaluation and care, including long wait times for an appointment, lack of insurance coverage, availability of local evaluations, transportation difficulties, and native language differences; (3) the importance of being part of a patient advocacy group to help navigate the diagnostic journey; and (4) unique challenges faced by adults (18 years or older). Conclusions Families of children with complex neurodevelopmental and genetic disabilities face numerous challenges in finding adequate medical care and services for their child. They experience considerable delays in receiving timely diagnoses and face significant barriers that further delay the process of receiving access to services needed for the child’s continued care. The gaps indicated in this study speak to the need for more comprehensive coordination of care for patients with intellectual and developmental disabilities, as well as the development of systematic, disorder-specific resources both for providers and families in order to improve patient outcomes.

Diagnostic programs and second opinion clinics have grown and evolved in the recent years to help patients with rare, puzzling, and complex conditions who often suffer prolonged diagnostic journeys, but there is a paucity of literature on the clinical characteristics of these patients and the efficacy of these diagnostic programs. This study aims to characterize the diagnostic journey, case features, and diagnostic outcomes of patients referred to a team-based second opinion clinic at Stanford. Retrospective chart review was performed for 237 patients evaluated for diagnostic second opinion in the Stanford Consultative Medicine Clinic over a 5 year period. Descriptive case features and diagnostic outcomes were assessed, and correlation between the two was analyzed. Sixty-three percent of our patients were women. 49% of patients had a potential precipitating event within about a month prior to the start of their illness, such as medication change, infection, or medical procedure. A single clear diagnosis was determined in 33% of cases, whereas the remaining cases were assessed to have multifactorial contributors/diagnoses (20%) or remained unclear despite extensive evaluation (47%). Shorter duration of illness, fewer prior specialties seen, and single chief symptom were associated with higher likelihood of achieving a single clear diagnosis. A single-site academic consultative service can offer additional diagnostic insights for about half of all patients evaluated for puzzling conditions. Better understanding of the clinical patterns and patient experiences gained from this study helps inform strategies to shorten their diagnostic odysseys. [ABSTRACT FROM AUTHOR]

Abstract Background Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were involved in a decision to seek medical care. Methods 14 PAD-patients (11 women; median 44, range 16-68 years) were analyzed using semi-structured interviews until saturation of key emergent themes was achieved. Results Being always ill featured in all participant stories. Often from childhood onwards periods of illness were felt to be too numerous, too bad, too long-lasting, or antibiotics were always needed to get better. Recurrent or persistent respiratory infections were the main triggers for patients to seek care. All participants developed an extreme fatigue, described as a feeling of physical and mental exhaustion and thus an extreme burden on daily life that was not solved by taking rest. Despite this, participants tended to normalize their symptoms and carry on with usual activities. Non-immunologists, as well as patients, misattributed the presenting signs and symptoms to common, self-limiting illnesses or other ‘innocent’ explanations. Participants in a way understood the long diagnostic delay. They know that the disease is rare and that doctors have to cover a broad medical area. But they were more critical about the way the doctors communicate with them. They feel that doctors often don’t listen very well to their patients. The participants’ symptoms as well as the interpretation of these symptoms by their social environment and doctors had a major emotional impact on the participants and a negative influence on their future perspectives. Conclusions To timely identify PAD, ‘pattern recognition’ should not only focus on the medical ‘red flags’, but also on less differentiating symptoms, such as ‘being always ill’ and ‘worn out’ and the way patients cope with these problems. And, most important, making time to really listen to the patient remains the key.

Introduction: Pulmonary fibrosis includes a spectrum of diseases and is incurable. There is a variation in disease course, but it is often progressive leading to increased breathlessness, impaired quality of life, and decreased life expectancy. Detection of pulmonary fibrosis is challenging, which contributes to considerable delays in diagnosis and treatment. More knowledge about the diagnostic journey from patients' perspective is needed to improve the diagnostic pathway. The aims of this study were to evaluate the time to diagnosis of pulmonary fibrosis, identify potential reasons for delays, and document patients emotions.Methods: Members of European patient organisations, with a self-reported diagnosis of pulmonary fibrosis, were invited to participate in an online survey. The survey assessed the diagnostic pathway retrospectively, focusing on four stages: (1) time from initial symptoms to first appointment in primary care; (2) time to hospital referral; (3) time to first hospital appointment; (4) time to final diagnosis. It comprised open-ended and closed questions focusing on time to diagnosis, factors contributing to delays, diagnostic tests, patient emotions, and information provision.Results: Two hundred and seventy three participants (214 idiopathic pulmonary fibrosis, 28 sarcoidosis, 31 other) from 13 countries responded. Forty percent of individuals took ≥1 year to receive a final diagnosis. Greatest delays were reported in stage 1, with only 50.2% making an appointment within 3 months. For stage 2, 73.3% reported a hospital referral within three primary care visits. However, 9.9% reported six or more visits. After referral, 76.9% of patients were assessed by a specialist within 3 months (stage 3) and 62.6% received a final diagnosis within 3 months of their first hospital visit (stage 4). Emotions during the journey were overall negative. A major need for more information and support during and after the diagnostic process was identified.Conclusion: The time to diagnose pulmonary fibrosis varies widely across Europe. Delays occur at each stage of the diagnostic pathway. Raising awareness about pulmonary fibrosis amongst the general population and healthcare workers is essential to shorten the time to diagnosis. Furthermore, there remains a need to provide patients with sufficient information and support at all stages of their diagnostic journey.

Background: Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were involved in a decision to seek medical care.Methods: 14 PAD-patients (11 women; median 44, range 16-68 years) were analyzed using semi-structured interviews until saturation of key emergent themes was achieved.Results: Being always ill featured in all participant stories. Often from childhood onwards periods of illness were felt to be too numerous, too bad, too long-lasting, or antibiotics were always needed to get better. Recurrent or persistent respiratory infections were the main triggers for patients to seek care. All participants developed an extreme fatigue, described as a feeling of physical and mental exhaustion and thus an extreme burden on daily life that was not solved by taking rest. Despite this, participants tended to normalize their symptoms and carry on with usual activities. Non-immunologists, as well as patients, misattributed the presenting signs and symptoms to common, self-limiting illnesses or other 'innocent' explanations. Participants in a way understood the long diagnostic delay. They know that the disease is rare and that doctors have to cover a broad medical area. But they were more critical about the way the doctors communicate with them. They feel that doctors often don't listen very well to their patients. The participants' symptoms as well as the interpretation of these symptoms by their social environment and doctors had a major emotional impact on the participants and a negative influence on their future perspectives.Conclusions: To timely identify PAD, 'pattern recognition' should not only focus on the medical 'red flags', but also on less differentiating symptoms, such as 'being always ill' and 'worn out' and the way patients cope with these problems. And, most important, making time to really listen to the patient remains the key. [ABSTRACT FROM AUTHOR]

La maladie de Gaucher (MG) est une maladie génétique lysosomale, due à un déficit d'activité de la bêta-glucocérébrosidase, caractérisée par des atteintes hématologiques, viscérales et osseuses. L'objectif principal de notre étude était de décrire le parcours diagnostique de patients atteints de MG de type 1 et le rôle du médecin interniste. Étude rétrospective multicentrique incluant des patients atteints de MG de type 1, menée au sein de 16 centres, entre 2009 et 2011. Cinquante-cinq patients atteints d'une MG de type 1 ont été inclus, suivis par un interniste ou un hématologue. Ils étaient initialement hospitalisés dans 8 services de spécialité différents. Le diagnostic a été établi par un myélogramme chez 22 patients (40 %), par un dosage enzymatique de la glucocérébrosidase chez 15 patients (27 %), par une biopsie médullaire chez 9 patients (16 %). Le recours au dosage enzymatique était plus fréquent après 1990. Le délai entre la date de première hospitalisation pour symptômes en lien avec la MG et le diagnostic définitif était inférieur à 1 an pour 38 patients (81 %). Les suspicions de MG étaient majoritairement adressées à un médecin interniste. La maladie semble mieux reconnue et diagnostiquée plus rapidement depuis 1990 malgré la multiplicité des parcours, dans lesquels le rôle du médecin interniste paraît important. Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011. Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician. GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important. [ABSTRACT FROM AUTHOR]

Aims and objectives: To understand women's perspectives about the trajectory from first bodily changes to diagnosis. Background: With endometrial cancer, as with all gynaecological cancers, early diagnosis is key to successful outcomes. However, women do not always seek clinical advice early. Previously, this gap has been referred to as a “delay,” blamed on fear or refusal to acknowledge symptoms. Methods: A qualitative research project which involved face‐to‐face interviews with 16 women who had presented with symptoms of endometrial cancer. The paucity of research in the trajectory of women who experience a diagnosis of endometrial cancer required an exploratory overview of the data. Accordingly, an inductive thematic analysis was conducted using the framework of Braun and Clarke (Qualitative Research in Psychology, 3, 2006, 77). Results: Women and health professionals both resorted to satisficing, using heuristics to make decisions about the importance of symptoms depending on their severity and duration. Most women initially determined that the bodily changes were within the realms of normal. Time to diagnosis was also affected by the following: women's long‐standing assumptions; communication with health professionals; liminality—women oscillating between their self‐assessment that these changes were something significant or nothing important; and gaps in health literacy. Conclusions: The journey from noticing bodily changes to diagnosis was a nonlinear trajectory. Women worked to make sense of what was happening to them, informed by their sociocultural environment. In particular, confusion about the purpose of cervical screening led a number of participants who had regular smears to assume they were “safe” from cancer worries. Relevance to clinical practice: Women and some health professionals may be unfamiliar with symptoms potentially indicative of endometrial cancer. There may be structural and communication barriers for women navigating healthcare systems. It is vital that nurses take time both to listen to women and to provide them with resources to enhance their health literacy. [ABSTRACT FROM AUTHOR]

Introduction: Pulmonary fibrosis includes a spectrum of diseases and is incurable. There is a variation in disease course, but it is often progressive leading to increased breathlessness, impaired quality of life, and decreased life expectancy. Detection of pulmonary fibrosis is challenging, which contributes to considerable delays in diagnosis and treatment. More knowledge about the diagnostic journey from patients' perspective is needed to improve the diagnostic pathway. The aims of this study were to evaluate the time to diagnosis of pulmonary fibrosis, identify potential reasons for delays, and document patients emotions. Methods: Members of European patient organisations, with a self-reported diagnosis of pulmonary fibrosis, were invited to participate in an online survey. The survey assessed the diagnostic pathway retrospectively, focusing on four stages: (1) time from initial symptoms to first appointment in primary care; (2) time to hospital referral; (3) time to first hospital appointment; (4) time to final diagnosis. It comprised open-ended and closed questions focusing on time to diagnosis, factors contributing to delays, diagnostic tests, patient emotions, and information provision. Results: Two hundred and seventy three participants (214 idiopathic pulmonary fibrosis, 28 sarcoidosis, 31 other) from 13 countries responded. Forty percent of individuals took ≥1 year to receive a final diagnosis. Greatest delays were reported in stage 1, with only 50.2% making an appointment within 3 months. For stage 2, 73.3% reported a hospital referral within three primary care visits. However, 9.9% reported six or more visits. After referral, 76.9% of patients were assessed by a specialist within 3 months (stage 3) and 62.6% received a final diagnosis within 3 months of their first hospital visit (stage 4). Emotions during the journey were overall negative. A major need for more information and support during and after the diagnostic process was identified. Conclusion: The time to diagnose pulmonary fibrosis varies widely across Europe. Delays occur at each stage of the diagnostic pathway. Raising awareness about pulmonary fibrosis amongst the general population and healthcare workers is essential to shorten the time to diagnosis. Furthermore, there remains a need to provide patients with sufficient information and support at all stages of their diagnostic journey., Competing Interests: IvS reports grants from Boehringer Ingelheim outside the submitted work. SJ reports grants from Action for Pulmonary Fibrosis during the conduct of the study. FB reports personal fees and other from Boehringer Ingelheim, Roche, Galapagos, Savara outside the submitted work. AS reports personal fees from Roche, Boehringer Ingelheim, Berlin Chemie Menarini, Teva-Actavis, Medopharma, S&D Pharma Logistics and Pfizer, and grants from GlaxoSmithKline and Berlin Chemie Menarini outside the submitted work. IvS reports personal fees from Galapagos, Boehringer Ingelheim, Roche Pharma, Novartis Pharma, Menarini and Astra Zeneca outside the submitted work. MW reports grants and other from Boehringer Ingelheim and Hoffman la Roche, and other from Respivant, Galapagos, Safara, Novartis and Bristol Meyer Squib outside the submitted work. All grants and fees were paid to MW's institution. HP reports consultancy fees and conference travel from Roche and Boehringer Ingelheim; an educational grant and speaker fees from Roche. HP is a trustee for Action for Pulmonary Fibrosis and a member of the EU-IPFF scientific advisory board. KL reports personal fees, travel grants and consultancy fees from Boehringer Ingelheim and Roche outside submitted work. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 van der Sar, Jones, Clarke, Bonella, Fourrier, Lewandowska, Bermudo, Simidchiev, Strambu, Wijsenbeek and Parfrey.)

Introduction: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist., Methods: A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011., Results: Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician., Conclusion: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important., (Copyright © 2019 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)