Impact of stopping burosumab treatment at the end of skeletal growth in adolescents with X-linked hypophosphatemia (XLH).

Many adolescents with X-linked hypophosphatemia (XLH) currently have to stop treatment with burosumab at the end of skeletal growth. We describe the experience of a cohort of adolescents with XLH before, during, and after stopping burosumab (median treatment duration 37.5 months).

Rocatinlimab Improves Patient-Reported Outcomes in Adults with Moderate-to-Severe Atopic Dermatitis: Results from a Double-Blind Placebo-Controlled Phase 2b Study.

Introduction: In adults with moderate-to-severe atopic dermatitis (AD), rocatinlimab demonstrated significant and progressive improvement in clinical measures of disease severity compared with placebo. This post hoc analysis of a phase 2b study was undertaken to understand the disease burden and to assess the impact of rocatinlimab on patient-reported outcomes (PROs).

Methods: This analysis used baseline data from a multicenter, randomized, double-blind study of adults with moderate-to-severe AD, who completed a Worst Pruritus numerical rating scale (NRS), Sleep Disturbance NRS, and the Dermatology Life Quality Index (DLQI).

A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).

The importance of patient centricity and keeping the patient at the heart of research design is now well recognised within the healthcare community. The involvement of patient, caregiver and clinician representatives in the study design process may help researchers to achieve this goal and to ensure robust and meaningful data generation. Real-world data collection allows for a more flexible and patient-centred research approach for gaining important insights into the experience of disease and treatments, which is acutely relevant for rare diseases where knowledge about the disease is more likely to be limited.

Development and Psychometric Validation of the 27 Item Zarit Caregiver Interview for Alzheimer's Disease (ZCI-AD-27).

Background: Caring for an individual with Alzheimer's disease (AD) is an allencompassing challenge that affects daily life. Assessment of the care partner experience is needed to support the development and evaluation of successful interventions for people with AD and their care partners. We developed the 27-item Zarit Caregiver Interview for Alzheimer's Disease (ZCI-AD-27) to assess the impact of informal caregiving in the context of AD.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Background: Carers of people living with rare diseases report heavy burden and a plethora of unmet needs. A previous parental supportive care needs framework has described the needs of parents of children living with rare diseases, but it is not specific to rare inherited diseases (RIDs) and does not include non-parental carers. We conducted a targeted literature review to: (1) ascertain the burden/supportive care needs of informal carers of people living with RIDs, (2) understand the burden/supportive care needs unique to these carers, and (3) develop a conceptual model based on the findings.

Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data.

Context: Patients with X-linked hypophosphatemia (XLH) experience multiple musculoskeletal manifestations throughout adulthood.

Objective: To describe the burden of musculoskeletal features and associated surgeries across the lifespan of adults with XLH.

Methods: Three groups of adults were analyzed: subjects of a clinical trial, participants in an online survey, and a subgroup of the online survey participants considered comparable to the clinical trial subjects (according to Brief Pain Inventory worst pain scores of ≥ 4).

Patient-Reported Complications, Symptoms, and Experiences of Living With X-Linked Hypophosphatemia Across the Life-Course.

Context: X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting in bone, muscular, and dental problems, beginning in childhood and increasing in adulthood.

Objective: This qualitative analysis aimed to explore patient-reported symptoms, complications, and experiences of XLH over the life-course, using data from a large multinational online survey.

Methods: Responses to 2 open-ended questions from 209 adults and 86 children/adolescents (proxy report) with self-reported XLH were analyzed in 8 age groups.

Defining the Characteristics of Chronic Hypoparathyroidism Not Adequately Controlled on Conventional Therapy: Consensus Findings of Three European Delphi Panels.

Introduction: European Society of Endocrinology (ESE) guidelines provide goals for hypoparathyroidism management but do not define characteristics of chronic hypoparathyroidism that is not adequately controlled. Three European country-specific Delphi panels were conducted to gain consensus on these characteristics.

Methods: Delphi panels were conducted in the UK, Sweden, and Portugal using similar methodology.

Establishing Equivalence of Electronic Clinician-Reported Outcome Measures.

Background: Electronic administration of clinician-reported outcomes (eClinROs) has advantages over paper-based methods, but the mode of administration change has the potential to affect the validity of the scale. The literature on migration of patient-reported outcomes (PROs) suggests that there are different levels of modification, which necessitate different approaches to demonstrating mode equivalence. However, little has been written on the migration of ClinROs to electronic administration.

Pre- and postsynaptic serotonergic differences in males with extreme levels of impulsive aggression without callous unemotional traits: a positron emission tomography study using (11)C-DASB and (11)C-MDL100907.

Background: Impulsive aggression (IA) in adults is associated with brain serotonin (5-HT) system abnormalities and is more common following childhood adversity. Within aggressive behavior, IA and callous unemotional (CU) traits are core components of differentiable factors with opposing 5-HT abnormalities. We aimed to investigate 5-HT abnormalities in IA and potential correlations with severity of childhood adversity while controlling for confounding 5-HT effects of high CU traits and mental disorders.

A functional magnetic resonance imaging paradigm of expressed emotion in schizophrenia.

Chronic exposure to adverse interpersonal environment in schizophrenia is associated with vulnerability to relapse. The construct of expressed emotion (EE) measures the quality of interpersonal environment, of which criticism is a main component. To use functional magnetic resonance imaging and to investigate the neural basis of vulnerability of schizophrenic patients to EE, the effects of critical comments on brain mechanisms in 11 patients with schizophrenia were examined, comparing evoked responses to familiar (key relative) and unfamiliar (matched stranger) critical and neutral commentary.