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Background: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers' experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews. Methods: Semi-structured, qualitative interviews were conducted with caregivers at seven clinical sites in Japan using a semi-structured moderation guide (Voice of the Caregiver guide). Thematic analysis was applied to the interview transcripts to identify symptoms and health-related quality of life impacts at baseline, changes during treatment, and overall treatment experience. Results: Seven caregivers from 16 trial sites participated, representing seven children aged 8–18 years who had received pabinafusp alfa for 3.3–3.5 years at the time of the interviews. Data suggest a general trend toward improvement in multiple aspects, although not all caregivers observed discernible changes. Reported cognitive improvements included language skills, concentration, self-control, eye contact, mental clarity, concept understanding, following instructions, and expressing personal needs. Further changes were reported that included musculoskeletal improvements and such somatic changes as motor function, mobility, organ involvement, joint mobility, sleep patterns, and fatigue. Four caregivers reported improvements in family quality of life, five expressed treatment satisfaction, and all seven indicated a strong willingness to continue treatment of their children with pabinafusp alfa. Conclusion: Caregivers' perspectives in this study demonstrate treatment satisfaction and improvement in various aspects of quality of life following therapy with pabinafusp alfa. These findings enhance understanding of pabinafusp alfa's potential benefits in treating MPS II and contribute to defining MPS II-specific outcome measures for future clinical trials. [ABSTRACT FROM AUTHOR]

Context: Interest in implementing palliative care for adults living with progressive central nervous system diseases (PCNSD) and their caregivers is increasing.Objectives: To inform evidence-based practice and future research by critically evaluating randomized clinical trials (RCTs) investigating palliative care interventions (PCIs) for adults living with PCNSD and their caregivers using self-reported outcomes and the patient- and caregiver-reported outcome measures employed.Methods: A systematic search using PRISMA methods of EMBASE, PubMed, Scopus, Web of Science databases using index and keyword methods for articles published from inception through February 28, 2021 was performed. RCTs investigating PCI as their primary aim using patient- and/or caregiver-reported outcomes to assess PCI effectiveness in adults living with PCNSD and their caregivers were included for qualitative synthesis.Results: Five RCTs met criteria and used 21 unique outcome measures. Pooled patient diagnoses included multiple sclerosis, motor neuron disease and movement disorders, primarily Parkinson's Disease. All five RCTs assessed PCI effectiveness on patient symptom burden and caregiver burden, and three RCTs used patient QOL as a primary outcome. Overall risk of bias was low. Pooled positive findings were limited to very modest changes in patient QOL, specific physical symptoms and caregiver burden. Most outcome measures lacked clinimetric responsiveness to detect change whether caused by disease or an intervention to the patient or caregiver.Conclusion: Sparse, low-certainty evidence for PCI impact on patient QOL, symptom burden and caregiver burden indicate future research should consider refining study populations, interventions, outcomes assessed and outcome measures to detect any change due to PCI. [ABSTRACT FROM AUTHOR]

Background: It is widely assumed that pediatric solid organ transplantation results in better caregiver‐reported outcomes, including reduced caregiver psychological distress and increased child health‐related quality of life (HRQOL), yet little empirical evidence of this expectation exists. The current investigation aims to fill this gap and identify key clinical course factors predictive of caregiver‐reported outcomes. Methods: Forty‐nine caregivers of children (Mage = 10.30 years, SD = 5.43) presenting for kidney, liver, or heart transplant evaluation reported on their psychological distress levels (anxiety, depression, somatization, and global psychological stress) and their children's HRQOL at children's pretransplant evaluations and 6 months post‐transplant. Clinical course factors were abstracted via medical chart review. Results: Caregivers did not report significant changes in their psychological distress from pre‐ to post‐transplant but reported significantly improved child HRQOL across most domains (ds = −.45 to −.54). Higher post‐transplant caregiver global psychological distress was predicted by older child age, shorter time since diagnosis, and lower pretransplant caregiver‐reported child HRQOL even after controlling for pretransplant caregiver psychological distress. Lower post‐transplant child total HRQOL was predicted by more post‐transplant hospitalizations even after controlling for pretransplant child total HRQOL. Conclusions: These preliminary results indicate pediatric solid organ transplantation was associated with some improved caregiver‐reported outcomes, specifically children's HRQOL, but not caregivers' psychological distress. Linear regression models identify several clinical course and pretransplant factors associated with transplantation outcomes. Characterizing how caregivers view their psychological distress levels and children's HRQOL across the transplantation process could inform family‐centered holistic care and support caregiver adaptation to transplantation. [ABSTRACT FROM AUTHOR]

Context: The outcomes of specialty palliative care (PC) interventions for patients with hematologic malignancies (HMs) is under-investigated.Objectives: We performed a systematic review to evaluate the effect of PC interventions on patient- and caregiver- reported outcomes and healthcare utilization among adults with HMs (leukemia, myeloma, and lymphoma).Methods: From database inception through September 10, 2020, we systematically searched PubMed, CINAHL, Embase, Scopus, Web of Science, and Cochrane Reviews using terms representing HMs and PC. Eligible studies investigated adults aged 18 years and older, were published in the English language, and contained original, quantitative, or qualitative data related to patient- and/or caregiver-centered outcomes and healthcare utilization.Results: We screened 5345 studies;16 met inclusion criteria and found that specialty PC led to improved symptom management, decreased likelihood of inpatient death, decreased healthcare utilization, decreased cost of healthcare, and improved caregiver-reported outcomes. Patients with HM have a high need for PC which, though increasing over time, is often provided late in the clinical disease course.Conclusions: Specialty PC interventions improve healthcare outcomes for patients with HMs and should be implemented early and often. There remains a need for additional studies investigating PC use exclusively in patients with HMs. [ABSTRACT FROM AUTHOR]

Purpose: The Autism Behavior Inventory (ABI) is an observer-reported outcome scale measuring core and associated features of autism spectrum disorder (ASD). Extensive scale development (reported elsewhere) took place, in alignment with the Food and Drug Administration's patient-reported outcome guidance, to address the need for instruments to measure change and severity of ASD symptoms.Methods: Cognitive interviewing was used to confirm understanding and content validity of the scale prior to its use in clinical trials. Respondents were caregivers of individuals with ASD (N = 50). Interviews used a hybrid of the "think-aloud" and verbal probing approach to assess ABI's content validity and participant understanding of the instrument, including: item clarity and relevance; item interpretation; appropriateness of response scales; and clarity of instructions. Audio-recordings of the interviews were transcribed for qualitative data analysis. The scale was revised based on participant feedback and tested in a second round of interviews (round 1 N = 38, round 2 N = 12).Results: In total, 67/70 items reached ≥ 90% understandability across participants. Caregivers were able to select an appropriate response from the options available and reported finding the examples helpful. Based on participant feedback, instructions were simplified, 8 items were removed, and 10 items were reworded. The final revised 62-item scale was presented in round 2, where caregivers reported readily understanding the instructions, response options, and 61/62 items reached ≥ 90% understandability.Conclusions: Cognitive interviews with caregivers of a diverse sample of individuals with ASD confirm the content validity and relevance of the ABI to assess core and associated symptoms of ASD. [ABSTRACT FROM AUTHOR]

There is a need for measures to track symptom change in autism spectrum disorder (ASD). We conducted a validation study on a revised version of the Autism Behavior Inventory (ABI), and a short form (ABI-S). Caregivers of individuals (6–54 years) with confirmed diagnoses of ASD (N = 144) completed the ABI and other rating scales at 4 time points. Scale consistency for each domain, 3–5 day test–retest reliability, and construct validity, determined by comparison to pre-specified scales, were all good. Change in the ABI was congruent with changes in other instruments. Collectively, results suggest incipient suitability of the ABI as a measure of changes in core and associated symptoms of ASD. Trial Registration NCT02299700. [ABSTRACT FROM AUTHOR]