Background: Osteogenesis imperfecta (OI) is a group of rare inheritable disorders of connective tissue. The cardinal manifestations of OI are low bone mass and reduced bone mineral strength, leading to increased bone fragility and deformity that may lead to significant impairment in daily life. The phenotypic manifestations show a broad range of severity, ranging from mild or moderate to severe and lethal. The here presented meta-analysis aimed to analyze existing findings on quality of life (QoL) in children and adults with OI. Methods: Nine databases were searched with predefined key words. The selection process was executed by two independent reviewers and was based on predetermined exclusion and inclusion criteria. The quality of each study was assessed using a risk of bias tool. Effect sizes were calculated as standardized mean differences. Between-study heterogeneity was calculated with the I² statistic. Results: Among the studies included two featured children and adolescents (N = 189), and four adults (N = 760). Children with OI had significantly lower QoL on the Pediatric quality of life inventory (PedsQL) with regards to the total score, emotional, school, and social functioning compared to controls and norms. The data was not sufficient to calculate differences regarding OI-subtypes. In the adult sample assessed with Short Form Health Survey Questionnaire, 12 (SF-12) and 36 items (SF-36), all OI types showed significantly lower QoL levels across all physical component subscales compared to norms. The same pattern was found for the mental component subscales namely vitality, social functioning, and emotional role functioning. The mental health subscale was significantly lower for OI type I, but not for type III and IV. All of the included studies exhibited a low risk of bias. Conclusions: QoL was significantly lower in children and adults with OI compared to norms and controls. Studies in adults comparing OI subtypes showed that the clinical severity of the phenotype is not related to worse mental health QoL. Future research is needed to examine QoL in children and adolescents in more sophisticated ways and to better understand the association between clinical severity of an OI-phenotype/severity and mental health in adults.

Pooled data from published reports on infants with clinically diagnosed vitamin B12 (B12) deficiency were analyzed with the purpose of describing the presentation, diagnostic approaches, and risk factors for the condition to inform prevention strategies. An electronic (PubMed database) and manual literature search following the PRISMA approach was conducted (preregistration with the Open Science Framework, accessed on 15 February 2023). Data were described and analyzed using correlation analyses, Chi-square tests, ANOVAs, and regression analyses, and 102 publications (292 cases) were analyzed. The mean age at first symptoms (anemia, various neurological symptoms) was four months; the mean time to diagnosis was 2.6 months. Maternal B12 at diagnosis, exclusive breastfeeding, and a maternal diet low in B12 predicted infant B12, methylmalonic acid, and total homocysteine. Infant B12 deficiency is still not easily diagnosed. Methylmalonic acid and total homocysteine are useful diagnostic parameters in addition to B12 levels. Since maternal B12 status predicts infant B12 status, it would probably be advantageous to target women in early pregnancy or even preconceptionally to prevent infant B12 deficiency, rather than to rely on newborn screening that often does not reliably identify high-risk children.

Access to healthcare is multifaceted and poses significant challenges for individuals with chronic and rare diseases (RDs). This study aimed to conduct a psychometric evaluation of the German version of the Perception of Access to Healthcare Questionnaire (PAHQ) among individuals with RDs. We conducted an evaluation of the PAHQ using a sample of 271 adults with an RD diagnosis. The 31-item instrument underwent evaluation including a comparison of three different confirmatory factor models (CFA). Subsequent steps involved item removal, reliability analysis (computation of Cronbach’s alpha), and analysis of criterion-related validity. The six-factor model showed the best fit to the data and was selected for further examination. Subsequently, six items were removed. Fit indices for the final model were acceptable. Cronbach’s alpha ranged from 0.75 to 0.91 for the six subscales, except for the availability subscale which exhibited the lowest value (0.64). In terms of criterion-related validity, different skills relating to the navigation of access dimensions were significantly correlated with corresponding PAHQ subscales, thus confirming validity. The capacity of the PAHQ to guide targeted interventions and facilitate cross-population comparisons positions it as a valuable instrument for advancing healthcare access research and promoting equitable access to care, particularly for individuals with rare and chronic diseases.

Objectives: This study aims to determine clusters of access to healthcare among adults with rare diseases in Switzerland, identify associated individual characteristics of access, and impact on health-related quality of life (HRQoL).Methods: Swiss adults (N = 341) diagnosed with a rare disease completed an online survey including the Perception of Access to Healthcare Questionnaire (PAHQ) and Short Form Health Survey (SF-12). We employed partition around medoids algorithm to identify patient clusters based on the PAHQ. Various sociodemographic/disease-related factors and HRQoL were assessed.Results: We identified two patient clusters: higher (n = 227) and lower access (n = 114). Significantly associated with lower access were an unstable disease course (p < 0.05), increased number of misdiagnoses (p < 0.05), and diseases affecting the nervous system (p < 0.01). Membership in the lower access cluster was significantly associated with worse HRQoL (p < 0.05).Conclusion: Findings highlight the need for comprehensive assessment of healthcare access in adults with rare diseases and identifies potential targets for tailored interventions.

Objective: Sensory processing sensitivity (SPS) describes a common trait characterized by lower sensory threshold, depth of processing, and ease of overstimulation. Low sensory threshold is also potentially important in the context of pain. To date, the relationship between SPS and pain perception has not been investigated, particularly in adolescents. This randomized experimental study aimed to explore whether SPS was associated with pain threshold and tolerance in healthy adolescents. Further, we examined differences in pain perception following positive, negative, or neutral mood induction. Methods: A total of 100 healthy adolescents aged 16 to 19 years were recruited through schools and online advertisement. Participants completed psychosocial questionnaires and underwent a randomized mood induction (positive, negative, or neutral). Pain levels (in °C) and self-reported pain tolerance and threshold were assessed by an experimental heat pain paradigm. Regression models were applied to determine effects of mood induction on pain perception, while multiple analyses of variance (ANOVAs) were computed to compare sensitivity across groups. Results: The mood induction significantly influenced self-reported pain ratings, demonstrating a positive interaction coefficient for the positive mood condition (b = 1.140, p < 0.01). ANOVAs revealed significant differences between sensitivity groups for baseline scores of pain threshold (F_(2,97) = 5.009, p < 0.01) and tolerance (F_(2,97) = 3.193, p < 0.05) (F_(2,97) = 7.431, p < 0.001). Conclusion: Our findings reveal that highly sensitive adolescents had the lowest ratings of measured pain tolerance and threshold measures at baseline, suggesting heightened sensitivity to pain. This highlights the importance of considering sensory processing sensitivity in pain research, particularly in adolescent populations.

Children and adolescents with rare diseases face significant barriers when accessing healthcare. We aimed to assess and predict these barriers and investigate associations with health-related quality of life (HRQoL). We conducted a cross-sectional survey of Swiss parents (N = 189) of children with rare diseases including the Barriers to Care Questionnaire (BCQ), containing six barriers and the Pediatric Quality of Life Inventory (PedsQL). Latent profile analysis (LPA) was used to uncover distinct classes, which were compared using chi-square tests and Mann–Whitney U tests. Relevant medical and sociodemographic class predictors were identified using Elastic Net regression, followed by regression analysis to investigate their role in predicting barriers to care and examine the effects of these classes on HRQoL. Two distinct groups were identified, a higher barriers class (59%) and a lower barriers class (41%). In the higher barriers class, participants showed elevated scores across all subscales and specifically on pragmatics and expectations. More barriers to care were linked to a nonstable disease course (OR = 2.27, p = .002) and a diagnosis after the age of 3 months (OR = 2.17, p = .006). Individuals in the higher barriers class exhibited more psychological comorbidities (p = .044), congenital malformations/deformations/chromosomal abnormalities (p=.042), and medical misdiagnoses (p = .006). Children in the higher barriers class had significantly lower PedsQL scores compared to the lower barriers class (p <.05). This study highlights the need for comprehensive assessment of barriers to pediatric care in rare diseases, offering potential entry points for targeted interventions.