المؤلفون: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Health service use, Costs, Ataxia, Specialist centre, Medicine

الوصف: Abstract Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European countries reported differences in their health care use and costs compared with patients who did not attend a specialist ataxia centre. We compared mean resource use and health service costs per patient affected by ataxia in the United Kingdom, Italy and Germany over a 12-month period. Data were obtained from a survey distributed to people with ataxia in the three countries. We compared mean resource use for each contact type and costs, stratifying patients by whether they were currently attending a specialist ataxia centre or had never attended one. Results Responses were received from 181 patients from the United Kingdom, 96 from Italy and 43 from Germany. Differences in the numbers of contacts for most types of health service use between the specialist ataxia centre and non-specialist ataxia centre groups were non-significant. In the United Kingdom the mean total cost per patient was €2209 for non-specialist ataxia centre patients and €1813 for specialist ataxia centre patients (P = 0.59). In Italy these figures were €2126 and €1971, respectively (P = 0.84). In Germany they were €2431 and €4087, respectively (P = 0.19). Inpatient stays made the largest contribution to total costs. Conclusions Within each country, resource use and costs were broadly similar for specialist ataxia centre and non-specialist ataxia centre groups. There were differences between countries in terms of health care contacts and costs.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/73a4cd848505400d97c064c0db95d331Test

المؤلفون: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Ataxia, Specialist centre, Care pathway, Patient survey, Rare diseases, Medicine

الوصف: Abstract Background Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending specialist ataxia centres (SAC) compared with non–specialist settings. We investigated specifically how diagnosis was reached, the access to healthcare services, treatments, and care satisfaction. The focus of this study was on early intervention, coordination of treatment to understand the care provision in different countries. Methods A patient survey was done in the UK, Germany and Italy to gather information about diagnosis and management of the ataxias in specialist (SAC) and non-specialist settings, utilisation of other primary and secondary health care services, and patients’ satisfaction of received treatment. Results Patients gave positive feedback about the role of SAC in understanding their condition, ways to manage their ataxia (p

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/e065d538ca3d4f04a022a5f8a436d69dTest

المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer

المصدر: Genes, Vol 13, Iss 10, p 1761 (2022)

مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A, Genetics, QH426-470

الوصف: Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS. A total of 2418 articles were retrieved, and 152 were included in this review, representing a total of 1369 individuals with KS. Genotype, phenotype, and the developmental and behavioral profile of KS are reviewed. There is a continuous clinical phenotype spectrum associated with KS with notable variability between affected individuals and an emerging genotype–phenotype correlation. The observed clinical variability may be attributable to differences in genotypes and/or unknown genetic and epigenetic factors. Clinical management is symptom oriented, fragmented, and lacks established clinical care standards. Additional research should focus on enhancing understanding of the burden of illness, the impact on quality of life, the adult phenotype, life expectancy and development of standard-of-care guidelines.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/10/1761Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/a1103e11d8e14b2f9d27a99fca059002Test

المؤلفون: Steve Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti

الوصف: Background Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialist ataxia centres in three European countries reported differences in their health care use and costs compared with patients who did not attend a specialist ataxia centre. We compared mean resource use and health service costs per patient affected by ataxia in the United Kingdom, Italy and Germany over a 12-month period. Data were obtained from a survey distributed to people with ataxia in the three countries. We compared mean resource use for each contact type and costs, stratifying patients by whether they were currently attending a specialist ataxia centre or had never attended one.Results Responses were received from 181 patients from the United Kingdom, 96 from Italy and 43 from Germany. Differences in the numbers of contacts for most types of health service use between the specialist ataxia centre and non-specialist ataxia centre groups were non-significant. In the United Kingdom the mean total cost per patient was €2209 for non-specialist ataxia centre patients and €1813 for specialist ataxia centre patients (P = 0.59). In Italy these figures were €2126 and €1971, respectively (P = 0.84). In Germany they were €2431 and €4087, respectively (P = 0.19). Inpatient stays made the largest contribution to total costs.Conclusions Within each country, resource use and costs were broadly similar for specialist ataxia centre and non-specialist ataxia centre groups. There were differences between countries in terms of health care contacts and costs.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d94021ebce1f2b7878346d0f58788b89Test
https://doi.org/10.21203/rs.3.rs-2718607/v1Test

المؤلفون: Deborah Hoffman, Christina Theodore-Oklota, Deborah S. Hartman, Hans T. Bjornsson

المصدر: Advances in Therapy

مصطلحات موضوعية: Adolescent, media_common.quotation_subject, Population, Disease, Adolescents, Quality of life (healthcare), Perception, medicine, Humans, Pharmacology (medical), Abnormalities, Multiple, education, Survey, media_common, Original Research, Humanistic burden, education.field_of_study, Kabuki syndrome, business.industry, Perspective (graphical), General Medicine, medicine.disease, Hematologic Diseases, Patient research, United States, Caregivers, Vestibular Diseases, Face, Patient burden, Quality of Life, business, Psychosocial, Qualitative research, Clinical psychology

الوصف: Introduction Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing research lacks information on the daily burden of living with Kabuki syndrome. Methods A survey collected caregiver- and patient-reported data about the experience of living with Kabuki syndrome in order to better understand its presentation and effect on patients and their psychosocial well-being. Results A total of 68 participants (n = 57 caregivers and n = 11 adolescents) were recruited from the USA and Canada. Caregiver survey participants reported developmental delays and lower IQ in individuals with Kabuki syndrome compared to the general population, as well as difficulty with cognitive-related tasks, need for educational accommodations, and difficulty with particular school subjects and with daily tasks. Additionally, participants reported significant emotional, social, and communication-related impacts of Kabuki syndrome. Adolescent data largely corroborated the information collected from caregivers, with the exception of adolescents reporting the emotional and social impacts as occurring less frequently. Conclusions Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f344a80dd9d3a07926421e340a0822Test
http://europepmc.org/articles/PMC8799562Test

المؤلفون: Jose G. Romano, Hannah Gardener, Eric E. Smith, Iszet Campo-Bustillo, Yosef Khan, Sofie Tai, Nikesha Riley, Ralph L. Sacco, Pooja Khatri, Heather M. Alger, Brian Mac Grory, Deepak Gulati, Navdeep S. Sangha, Karin E. Olds, Curtis G. Benesch, Adam G. Kelly, Scott S. Brehaut, Amit C. Kansara, Lee H. Schwamm, Scott Moody, Weiping Ye, Vena Sobhawongse, Jeffrey M. Craig, Heloisa Pearson, Deborah Summers, Christine Boerman, Christy Rice, Robin Kintner, Mayumi Oka, Sarah Baran, Christina Roels, Maureen Dosunmu, Cherylee W. J. Chang, Jennifer Moran, Denise Ditrich, Nicholas Lanciano, Aimee Mann, Charles E. Romero, Becky Thiele, David Salvatore, Annette Taylor, Neel Shah, Rodney Leacock, Angel Rochester, Fanny Guillerminet, Jerry C. Martin, Johnny Jones, Nicol Brandon, Vikas Grover, Maryika Gibson, Maheen Malik, Carol Mechem, William R. Logan, Camilla Cook, Muhib A Khan, Christa Rood, Arun Babu, Leah Steinig, Jestin Carlson, Melanie Henderson, Gabriel Vidal, Bethany Jennings, Jennifer Lynch, Jessica Ratcliff, Kathryn Kirchoff, Khadean Moncrieffe, Jennifer Rasmussen-Winkler, Leigh Allen, Gary Thompson, Christopher Firek, Stephen Martino, Baher Georgy, Gillian L. Gordon-Perue, Nina Vekima, Kasey Gildersleeve, Marian Skewes, Christina Valdovinos, Timothy C. Parsons, Cynthia Marques, John W. Chen, David Lombardi, Brenda Perez, Amer Malik, Kathy Hesse, Amy Guzik, Sandra E. Norona, Robert Hoesch, Jacki Anderson, Dorothea Altschul, Farah Fermin, Miran Salgado, Jonathan Muller, Indrani Acosta, Brooke Hartwell, Terry A. Neill, Carrie Hundley, Abhineet Chowdhary, Tina Fortney, Jose Rafael Romero, Brandon Finn, Refat Assad, Maggie Ellithorpe, Rebecca Sugg, Susan Hetzel, Muhammad M. Alvi, Jay Sherman, Jonathan Hartman, Tashia Orr, Ankur Garg, Melissa Turner, Curtis Given, Sara Renfrow, Jeffrey Hilburn, Ellen Looney, Christopher Commichau, Paul Jarvis, Changsoo Hahm, Melissa Mccaulley, Angel Pulido, Sergio Michel, Nima Ramezan-Arab, Françoise Toussaint- Jones, Anna Khanna, Esther Olasoji, Armistead Williams, Elizabeth Purrington, Ratna Reddy, Renee Potter, Bhupat Desai, Karen Tse-Chang, Laurence Ufford, Leslie Drager, Keith O. Jones, Teresa Ellebusch, Michelle Dobrzynski, Elizabeth H. Wise, Ann Jerde, Gauhar Chaudhary, Robyn McLean, Joseph Hanna, Dana Cook, Franklin Marden, Jennifer Orde, Ajay Arora, Shawna Miller, Raymond Reichwein, Deborah Hoffman, Kelly Matmati, Nabil Matmati, Kumiko Owada, Laura Murphy, Ashish Masih, Bethany Fife, Larry Shepherd, Matthew Holzmann, Stephen Gancher, Sabrina Enoch, Matthew Smith, Denise Goings, Joseph Mazzola, Edward Plyler, Lisa Landers, James Napier, Laura Thoreson, Amer Alshekhlee, Michelle Raymond, Tarakad Ramachandran, Michael Jorolemon, David Padalino, Collin Maloney, Jenny Rae Mott, Laxmi P. Dhakal, Cindy Murphy, Truman J. Milling, Patrick Lawrence, Harish Shownkeen, Kathy Hansen, Paul A. Cullis, Lynne Froehlich, Sajjad Mueed, Ryan Pavolka, Steven R. Levine, Nadege Gilles, Laura LaChance, Kanwal Nayyar, Karen Klein, Rose Dotson, Kristopher Rowe, Elisheva Coleman, Emily Sayles, Rajan Gadhia, Jason Lee, Paul W. Lewis, Jenny Nunley, Rehan Sajjad, Carol Halliday, Angelos Katramados, Theresa Holmes, Rashmikant Kothari, Linda Mader, Fen Lei Chang, Kelly Western, Kinjal Desai, Colleen Kehr, Gary Reese, Ashu Jadhav, Mackenzie Steinbach, Jeffrey Saver, Gilda Avila, Janice A. Miller, Alicia Gneiting, Matthew S. Tenser, Sarah Burke

المصدر: Stroke. 53(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Emergency Medical Services, Quality of life, Fibrinolytic Agents, medicine, Humans, Stroke, Aged, Ischemic Stroke, Advanced and Specialized Nursing, Aged, 80 and over, business.industry, Middle Aged, medicine.disease, Prognosis, Quality Improvement, Treatment Outcome, Tissue Plasminogen Activator, Emergency medicine, Ischemic stroke, Quality of Life, Female, Neurology (clinical), Guideline Adherence, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies

الوصف: Background and Purpose: Clinical fluctuations in ischemic stroke symptoms are common, but fluctuations before hospital arrival have not been previously characterized. Methods: A standardized qualitative assessment of fluctuations before hospital arrival was obtained in an observational study that enrolled patients with mild ischemic stroke symptoms (National Institutes of Health Stroke Scale [NIHSS] score of 0–5) present on arrival to hospital within 4.5 hours of onset, in a subset of 100 hospitals participating in the Get With The Guidelines–Stroke quality improvement program. The number of fluctuations, direction, and the overall improvement or worsening was recorded based on reports from the patient, family, or paramedics. Baseline NIHSS on arrival and at 72 hours (or discharge if before) and final diagnosis and stroke subtype were collected. Outcomes at 90 days included the modified Rankin Scale, Barthel Index, Stroke Impact Scale 16, and European Quality of Life. Prehospital fluctuations were examined in relation to hospital NIHSS change (admission to 72 hours or discharge) and 90-day outcomes. Results: Among 1588 participants, prehospital fluctuations, consisting of improvement, worsening, or both were observed in 35.5%: 25.1% improved once, 5.3% worsened once, and 5.1% had more than 1 fluctuation. Those who improved were less likely and those who worsened were more likely to receive alteplase. Those who improved before hospital arrival had lower change in the hospital NIHSS than those who did not fluctuate. Better adjusted 90-day outcomes were noted in those with prehospital improvement compared to those without any fluctuations. Conclusions: Fluctuations in neurological symptoms and signs are common in the prehospital setting. Prehospital improvement was associated with better 90-day outcomes, controlling for admission NIHSS and alteplase treatment. Registration: URL: https://www.clinicaltrials.govTest ; Unique identifier: NCT 02072681.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded998faabc36a5f9d8cd726a7e54ecaTest
https://pubmed.ncbi.nlm.nih.gov/34645285Test

المؤلفون: Heather Menne, Leigh F. Callahan, Deborah Hoffman, Glen Wunderlich, Michele Potashman, Samantha L. Wronski, Brett Hauber, Ian N. Kremer, Dan Wieberg, Russ Paulsen, Daniel Lee, Dana B. DiBenedetti, Ann Hartry

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::573220724a68b6e9df3215bdd56e81e6Test
https://doi.org/10.1002/alz.040100Test

المؤلفون: Deborah Hoffman, Russ Paulsen, Brett Hauber, Ann Hartry, Daniel Lee, Dan Wieberg, Dana B. DiBenedetti, Glen Wunderlich, Michele Potashman, Leigh F. Callahan, Ian N. Kremer

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::42f79de99d2fc946d90428e5a684be70Test
https://doi.org/10.1002/alz.040095Test

المؤلفون: Glen Wunderlich, Dana B. DiBenedetti, Ian N. Kremer, Dan Wieberg, Michele Potashman, Deborah Hoffman, Tabassum Majid, Ann Hartry, Russ Paulsen, Daniel Lee, Leigh F. Callahan

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Behavioral neurology, Health Policy, Treatment development, Disease, Neuropsychiatry, Clinical trial, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Drug development, medicine, Neurology (clinical), Geriatrics and Gerontology, Psychiatry, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2ab606bf3a5aad68e39225051191d10bTest
https://doi.org/10.1002/alz.040099Test

المؤلفون: Maggie Paulich, Christina Theodore-Oklota, Hans T. Bjornsson, Deborah S. Hartman, Shayna Egan, Deborah Hoffman, Christopher J. Evans

المساهمون: Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Emotions, Burden, Erfðasjúkdómar, Infections, Affect (psychology), burden, Young Adult, Seizures, Surveys and Questionnaires, Patient experience, Genetics, medicine, Humans, Abnormalities, Multiple, survey, Hearing Loss, Psychiatry, Survey, caregiver, Genetics (clinical), Depression (differential diagnoses), Kabuki syndrome, business.industry, Genetic disorder, Original Articles, Middle Aged, medicine.disease, Caregiver, Hematologic Diseases, Additional research, Caregivers, Vestibular Diseases, Face, Autism, Anxiety, Female, Original Article, medicine.symptom, Deglutition Disorders, business

الوصف: Publisher's version (útgefin grein)
Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available treatment other than symptomatic management. This research sought to obtain caregiver-reported data about the experience of living with and caring for someone with Kabuki syndrome to fill a gap in the available literature. Fifty-seven caregivers participated in an online survey and reported that Kabuki syndrome affected their children in a wide variety of ways, including a high frequency of visits to various healthcare professionals. Caregivers reported their child experienced problems with hearing, eating, eyes, mouth, immune system, anxiety, depression, autism, teeth, joints, seizures, kidneys, and heart. Caregivers also described the challenges of caring for someone with Kabuki syndrome, including an impact on emotional well-being and the ability to work outside the home. This unique research characterizes the caregiver experience of living with and caring for someone with Kabuki syndrome, both through observed manifestations of Kabuki syndrome in their own children and their experience managing their treatment. Additional research is needed to investigate the patient experience of living with Kabuki syndrome.
Rene King, President & Founder, All Things Kabuki Inc. was essential to participant recruitment and the overall success of this study. Siobhan McDonald from Endpoint Outcomes assisted with recruitment and survey administration. Caitlin Pohl from Endpoint Outcomes contributed to the design of the study, survey administration, and data analysis. Christina Theodore‐Oklota is employed by Ultragenyx Pharmaceutical Inc. who funded this research. Deborah Hartman and Deborah Hoffman were employed by Takeda Pharmaceuticals at the time this research was conducted. Chris Evans, Maggie Paulich, and Shayna Egan are employed by Endpoint Outcomes who was paid to conduct this research. Hans T. Björnsson is a consultant for Millennium Pharmaceuticals.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293dc8334bb01ed3d9793e785bf8098Test
https://hdl.handle.net/20.500.11815/2311Test