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Hereditary transthyretin amyloidosis (ATTRv) is endemic in northern Sweden (Västerbotten). The awareness of ATTRv amyloidosis is lower in Stockholm, a non-endemic region in Sweden. The aim of this study was to compare the possible differences in diagnostic delay, disease phenotypes, treatment and survival between a non-endemic and an endemic region in Sweden. The in- and outpatient diagnosis registry at the Department of Neurology at Karolinska University Hospital and the Amyloidosis Centre at University Hospital of Umeå were used to identify patients between January 2006 and November 2017. In total, 21 patients in Stockholm and 134 patients in Västerbotten were included. The time between symptom onset to time-point of diagnosis was significantly longer in Stockholm vs Västerbotten. This corresponded to a longer median time between first visit at amyloidosis centre to time-point of diagnosis in Stockholm vs in Västerbotten. The most common reason for a diagnostic delay was negative tissue biopsies. There was a diagnostic-, but no patient-delay in non-endemic Stockholm vs endemic Västerbotten. Despite a more severe neuropathic phenotype in Stockholm at the onset, the systemic affection over the course of disease and of survival seems not to be influenced by the diagnosis delay in Stockholm. [ABSTRACT FROM AUTHOR]

Objective: Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative disorder with a median survival of 3 years. The aim of our study is to analyze the incidence, age-related phenotype and clinical onset, geographical distribution, survival and diagnostic delay of ALS in Navarre. Methods: This is a population-based observational retrospective study, including all residents of Navarre (a northern Spanish region) from 2007 to 2018, who were followed until 30th September 2020. Results: We observed a global incidence 2.47/100,000 person-years, with an upward trend throughout the study, with the highest being in the age group of 70–74 years old. Point prevalence in December 2018 was 6.64/100,000 inhabitants (95%CI: 4.52–8.45). Upper limbs weakness onset was the most frequent in young people (<60 years), and bulbar, lower limbs weakness, generalized and respiratory associated with older age. Bulbar phenotype is the most frequent in women and in 80+ group. The median survival from clinical onset was 27.7 months (95%CI: 24.0–31.4), higher in spinal phenotype and younger onset age, and the diagnosis delay was 10.0 months (95%CI: 8.9–11.2) from clinical onset. Conclusions: We have observed a trend of increasing incidence in older people where the bulbar phenotype and female predominance [ABSTRACT FROM AUTHOR]

Introduction: The Ulcerative Colitis (UC) Narrative is a global initiative to engage patients with UC, in order to help identify the impact of UC on patients' lives. The aim of the UC Narrative extension survey in Finland was to identify and describe the unmet needs in quality care. Methods: Seventeen Finnish physicians were surveyed in the original UC Narrative survey between 7 December 2017 and 24 January 2018. In the extension phase, Finnish UC patients, recruited through the Finnish patient association, were surveyed from 15 November to 3 December 2018, covering questions on disease characteristics, impact on life, most common challenges in communication with health care professionals (HCPs) and access to care. Results: Five hundred and eight patients with self-reported UC diagnosis participated (137 male [27.0%]). Diagnostic delay was, on average, 2.3 (SD 5.5) years; 14.4% had waited five years or more for diagnosis. Most patients (396; 78.0%) considered themselves to be in remission and rated their overall state of health as 'excellent' or 'good' (303; 59.7%). Most patients (79.6%) were satisfied with the communication with their HCPs, and the majority (74.2%) felt comfortable raising concerns and fears with HCPs. However, the satisfaction in discussing mental and emotional health impacts of UC was lower (44.3%). A relatively large number of patients (38.5%) felt that they would be a more successful person without UC. Conclusions: The UC Narrative survey highlighted the diagnostic delay in UC, challenges in communication with HCPs and the impact of UC on life from the patients' perspective. [ABSTRACT FROM AUTHOR]

Objectives were: i) to describe the phenotypic heterogeneity of incident amyotrophic lateral sclerosis (ALS) patients diagnosed in 2012 in French ALS centres; ii) to look at the associations between ALSFRS-R score and ALSFRS-R slope (ΔFS) at time of diagnosis with diagnosis delay, ALS phenotypes and Airlie House diagnosis criteria (AHDC); iii) to describe the rate of progression on ΔFS, according to diagnosis delay.Methods: Incident ALS cases diagnosed in French ALS centres were included. The rate of progression was evaluated as follows: ΔFS = (48 – ALSFRS-R at time of diagnosis)/duration from onset to diagnosis (months). Fast and slow progressors were defined by ΔFS >1 and <0.5, respectively.Results: At time of diagnosis, 476 patients were classified into eight phenotypes: bulbar (33.0%), spinal lumbar (28.2%), spinal cervical (23.1%), flail leg (4.4%), ALS/FTD (4.2%), possible flail arm (4.0%), respiratory (2.1%), dropped-head (1.0%). Median ΔFS (n = 358/476) was 1.0 [0.5–2.0]. ΔFS was associated with AHDC (p = 0.009), but not with clinical phenotype (p = 0.902). Stratification on diagnosis delay (<12 months or ≥18 months) allowed to differentiate fast progressors from slow progressors.Conclusion: At time of inclusion in therapeutic trial closed to diagnosis, ΔFS or diagnosis delay may discriminate the rate of progression. [ABSTRACT FROM AUTHOR]

In childhood cancer patients, early diagnosis may have an impact on survival that reduces the potential morbidity. This study aimed to identify the factors associated with delay in diagnosis in children with cancer in southeastern Turkey. The clinical records of 682 patients with childhood cancer were evaluated. Study variables were classified as factors related to the patient, their disease, and the health care system. The median parental delay, physician delay, and total delay were determined as 20, 23, and 60 days, respectively. There was a significant relationship between parental delay, physician delay, and total delay and age at diagnosis ( P = .005, P = .008, and P = .004, respectively). Long parental delay was least frequent in children younger than 1 year ( P = .001). Parental, physician, and total delay were longer in patients with solid tumors than in patients with leukemias ( P = .007, P = .000, and P = .000, respectively). Patients with tumors of the genitalia had longer physician delay and total delay than patients with other solid tumors ( P = .001 and P = .000, respectively). Patients with solid tumor and early-stage disease had longer physician delay and total delay ( P = .016 and P = .013, respectively). According to the first physician contacted, long physician delay was less frequent among pediatricians ( P = .003). Delayed diagnosis was associated with age, type/localization and stage of tumor, the first physician consulted, and area of residence. A sustained effort should be made to raise the level of awareness of childhood cancer among parents and to sensitize all physicians, especially those who treat pediatric patients infrequently, with regard to the warning signs of the disease. [ABSTRACT FROM AUTHOR]

In childhood cancer patients, early diagnosis may have an impact on survival that reduces the potential morbidity. This study aimed to identify the factors associated with delay in diagnosis in children with cancer in southeastern Turkey. The clinical records of 682 patients with childhood cancer were evaluated. Study variables were classified as factors related to the patient, their disease, and the health care system. The median parental delay, physician delay, and total delay were determined as 20, 23, and 60 days, respectively. There was a significant relationship between parental delay, physician delay, and total delay and age at diagnosis (P = .005, P = .008, and P = .004, respectively). Long parental delay was least frequent in children younger than 1 year (P = .001). Parental, physician, and total delay were longer in patients with solid tumors than in patients with leukemias (P = .007, P = .000, and P = .000, respectively). Patients with tumors of the genitalia had longer physician delay and total delay than patients with other solid tumors (P = .001 and P = .000, respectively). Patients with solid tumor and early-stage disease had longer physician delay and total delay (P = .016 and P = .013, respectively). According to the first physician contacted, long physician delay was less frequent among pediatricians (P = .003). Delayed diagnosis was associated with age, type/localization and stage of tumor, the first physician consulted, and area of residence. A sustained effort should be made to raise the level of awareness of childhood cancer among parents and to sensitize all physicians, especially those who treat pediatric patients infrequently, with regard to the warning signs of the disease. [ABSTRACT FROM AUTHOR]

Background Although there is extensive research examining parental experiences of assessment and diagnosis of autism, there is a paucity of research from the perspective of individuals with autism. Method Semi-structured interviews were conducted with nine young people with high functioning autism who were capable of providing a verbal account of their perceptions of autism and diagnosis experiences. Data were analysed using interpretative phenomenological analysis. Results Diagnosis, and the disclosure of the diagnosis of autism, were embedded in respondents' perceptions of “having” autism. This superordinate theme included five themes: (i) disclosure delay, (ii) providing explanations, (iii) potential effects of labelling, (iv) disruptions and opportunities, and (v) acceptance and avoidance. Conclusion In relation to the existing literature, it is suggested that the effects of diagnosis, or disclosure of diagnosis, from the perspective of the person with autism be given greater consideration. [ABSTRACT FROM AUTHOR]

To determine the demographic and systemic parameters in children with solid malignancies and to ascertain which of them affected the delay in diagnosis, a retrospective study was performed on 315 children diagnosed with a solid tumor at our hospital, including epidemiological, social, and medical issues concerning the family, the child, the medical system, and the tumor. Lag time, defined as the interval between onset of symptoms and final diagnosis, including parent delay and physician delay, was estimated for each child. Mean lag time: 15.75 weeks (w), median: 7 w, range: 0-208 w. Lowest mean values appeared in kidney tumors, highest in epithelial, brain and soft tissue sarcomas. Mean parent delay: 4.42 w, median: 1 w, range: 0-130 w. Mean physician delay: 11.17 w, median: 4 w, range: 0-206 w. Among the demographic and personal parameters, the best predictors for diagnosis delay were age of child and father's ethnic origin. Several factors influenced diagnosis delay of childhood solid tumors. Recognizing these factors could minimize the delay, thereby improving the child's chances of survival. [ABSTRACT FROM AUTHOR]