Comorbidities and Concerns in Hypothalamic Hamartoma: Results of an International Caregiver Survey
Abstract number :
1.381
Submission category :
6. Cormorbidity (Somatic and Psychiatric)
Year :
2024
Submission ID :
1277
Source :
www.aesnet.org
Presentation date :
12/7/2024 12:00:00 AM
Published date :
Authors :
Nathan Cohen, MD – Children's National Hospital
Farbod Niazi, DCS – Université de Montréal
Presenting Author: Alexander Weil, MD – Centre Hospitalier Universitaire Sainte-Justine
Aristides Hadjinicolaou, MD – Centre Hospitalier Universitaire Sainte-Justine
Madison Berl, PhD – Children's National Hospital
Julia Jacobs, MD, PhD – University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada
Kevin Yuen, MBChB, MD – Barrow Neurological Institute, University of Arizona College of Medicine and Creighton School of Medicine
Alexis Arzimanoglou, MD – Barcelona Children’s Hospital San Juan de Dios, Universitat the Barcelona, Coordinator of the European Reference Network (ERN) EpiCARE
J. Helen Cross, MBChB, PhD – UCL-Great Ormond Street Institute of Child Health; Great Ormond Street Hospital
Daniel Curry, MD – Texas Children’s Hospital, Baylor College of Medicine
William Gaillard, MD – Children's National Hospital
Lisa Soeby, MBA – Hope for Hypothalamic Hamartomas
Erica Webster, BS – Hope for Hypothalamic Hamartomas
Rationale: Hypothalamic hamartomas (HH) are rare, congenital, basilar lesions often associated with epilepsy, encephalopathy, and significant comorbidities affecting quality of life (QOL). There is a paucity of data on the neurocognitive, behavioral, psychiatric, endocrine and other comorbidities. Hope for Hypothalamic Hamartomas designed the largest international, patient and caregiver survey to quantify and characterize comorbidities and concerns, designate treatment priorities, and evaluate effects of various therapies on the QOL of patients with HH.
Methods: A multinational survey was administered to HH patients and caregivers from 6/19 to 8/21. The survey was made available in five languages (English, Russian, Japanese, French, and German). Answers were given in the form of multiple-option checkboxes, single-option radio button, or free text. Only fully completed questionnaires were included. Anonymized survey responses were aggregated, extracted, and stored on Microsoft Excel. Predictors of high quality of life were analyzed using stepwise univariable and multivariable logistic regression models.
Results: 487 respondents (370 carers, 117 patients) from 6 continents were included in the analysis. Demographic data are included in Table 1. The most cited concerns were epilepsy (39.4%); psychiatric (25.5%); cognitive (24.4%); endocrine (19.5%); developmental (10.5%) and future prospects/QOL/activities of daily living (26.7%). Common neurocognitive comorbidities were: memory deficits (62.3%); learning disability (60.8%); and executive dysfunction (55.7%). Precocious puberty (47.1%) was the most common endocrine comorbidity. Comprehensive comorbidity responses are in Table 2. Multivariate regression showed laser ablation and transcallosal resection as contributing to high QOL outcome; and psychiatric, musculoskeletal, visual, and communication comorbidities as factors contributing to lower QOL (among others).
Conclusions: This large, multinational survey demonstrate high rates of neurocognitive, behavioral, psychiatric, endocrine and other medical comorbidities experienced by HH patients, Furthermore, the results highlight, using multivariate regression, factors contributing to QOL in HH. These data should be used to guide future therapeutic and comorbidity studies in patients affected by hypothalamic hamartomas.
Funding: This study was funded by Hope for Hypothalamic Hamartomas.
NTC is funded by American Academy of Neurology Career Development Award and the Hess Foundation. AGW is funded by the Fonds du Recherche du Quebec junior 1 career award, CHUSJ Foundation, and Savoy Foundation. KY received research grants to Barrow Neurological Institute from Ascendis, served as occasional advisory board member for Novo Nordisk and Ascendis, and served as occasional speaker for Novo Nordisk. The European Reference Network for Rare and Complex Epilepsies, ERN EpiCARE, is funded by the European Commission.
Cormorbidity (Somatic and Psychiatric)