Journal of Huntington's disease最新文献

Dysregulated astrocyte cholesterol synthesis in Huntington's disease: A potential intersection with other cellular dysfunctions. 亨廷顿病星形胶质细胞胆固醇合成失调：与其他细胞功能障碍的潜在交叉

IF 2.1

Journal of Huntington's disease Pub Date : 2025-05-21 DOI: 10.1177/18796397251336192

Marta Valenza

{"title":"Dysregulated astrocyte cholesterol synthesis in Huntington's disease: A potential intersection with other cellular dysfunctions.","authors":"Marta Valenza","doi":"10.1177/18796397251336192","DOIUrl":"https://doi.org/10.1177/18796397251336192","url":null,"abstract":"Astrocytes are key elements for synapse development and function. Several astrocytic dysfunctions contribute to the pathophysiology of various neurodegenerative disorders, including Huntington's disease (HD), an autosomal-dominant neurodegenerative disorder that is characterized by motor and cognitive defects with behavioral/psychiatric disturbances. One dysfunction in HD related to astrocytes is reduced cholesterol synthesis, leading to a decreased availability of local cholesterol for synaptic activity. This review describes the specific role of astrocytes in the brain local cholesterol synthesis and presents evidence supporting a defective astrocyte-neuron cholesterol crosstalk in HD, by focusing on SREBP-2, the transcription factor that regulates the majority of genes involved in the cholesterol biosynthetic pathway. The emerging coordination of SREBP-2 with other physiological processes, such as energy metabolism, autophagy, and Sonic Hedgehog signaling, is also discussed. Finally, this review intends to stimulate future research directions to explore whether the impairment of astrocytic SREBP-2-mediated cholesterol synthesis in HD associates with other cellular dysfunctions in the disease.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251336192"},"PeriodicalIF":2.1,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Huntington's disease clinical trials update: March 2025. 亨廷顿舞蹈症临床试验更新：2025年3月。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-04-30 DOI: 10.1177/18796397251337000

Mena Farag, Sarah J Tabrizi, Edward J Wild

引用次数: 0

Upregulation of endocannabinoid signaling in vivo restores striatal synaptic plasticity and motor performance in Huntington's disease mice. 体内内源性大麻素信号的上调可恢复亨廷顿病小鼠纹状体突触可塑性和运动表现。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-04-24 DOI: 10.1177/18796397251337021

Marja D Sepers, Cameron L Woodard, Daniel Ramandi, Haley A Vecchiarelli, Matthew N Hill, Lynn A Raymond

{"title":"Upregulation of endocannabinoid signaling in vivo restores striatal synaptic plasticity and motor performance in Huntington's disease mice.","authors":"Marja D Sepers, Cameron L Woodard, Daniel Ramandi, Haley A Vecchiarelli, Matthew N Hill, Lynn A Raymond","doi":"10.1177/18796397251337021","DOIUrl":"https://doi.org/10.1177/18796397251337021","url":null,"abstract":"BackgroundSynaptic dysfunction underlies early sensorimotor and cognitive deficits in Huntington's disease (HD) and precedes the degeneration of striatal spiny projection neurons and cortical pyramidal neurons. Movement selection and motor learning, which are impaired early in HD, are regulated by connections between the motor cortex, basal ganglia and thalamus. In particular, plasticity at corticostriatal synapses, including endocannabinoid-mediated long-term depression (LTD), is critical for motor learning. Previously, we found impaired endocannabinoid-mediated LTD, induced by high frequency stimulation (HFS) at corticostriatal synapses in brain slice recordings from pre-manifest HD mouse models, which was corrected by JZL184, an inhibitor of endocannabinoid 2-arachidonoyl glycerol (2-AG) degradation.ObjectiveDetermine the effects of in vivo JZL184 administration on YAC128 HD model and wild-type (WT) littermate mice.MethodsJZL184 was administered to mice orally over a 3-week period and their motor function was assessed using several behavioral tasks. In addition, brain tissue was collected from mice in order to quantify changes in endocannabinoid levels and measure HFS-induced plasticity at corticostriatal synapses.ResultsOral administration of JZL184 significantly increased levels of 2-AG in striatal tissue. While JZL184 treatment had no impact on open field behavior, the treatment eliminated the difference in motor learning on the rotarod task between YAC128 and WT mice. Moreover, HFS-induced striatal plasticity in YAC128 mice was normalized to WT levels after JZL184 treatment.ConclusionsThese results suggest a novel target for mitigating early symptoms of HD and support the need for clinical trials of therapies that modulate the endocannabinoid system.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251337021"},"PeriodicalIF":2.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Functional Rating Scale 2.0 (FuRST 2.0): A patient-reported outcome measure of function for Huntington's disease. 功能评定量表2.0 (FuRST 2.0)：亨廷顿舞蹈病患者报告的功能结果测量。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-04-15 DOI: 10.1177/18796397251323549

Rebecca Lm Fuller, Pua Feigenbaum, Nancy LaPelle, Swati Sathe, Prachi Dalal, Jatin G Vaidya, Neha Sinha, Matthew Roché, Cheryl J Fitzer-Attas, Cristina Sampaio, Glenn T Stebbins

{"title":"Functional Rating Scale 2.0 (FuRST 2.0): A patient-reported outcome measure of function for Huntington's disease.","authors":"Rebecca Lm Fuller, Pua Feigenbaum, Nancy LaPelle, Swati Sathe, Prachi Dalal, Jatin G Vaidya, Neha Sinha, Matthew Roché, Cheryl J Fitzer-Attas, Cristina Sampaio, Glenn T Stebbins","doi":"10.1177/18796397251323549","DOIUrl":"https://doi.org/10.1177/18796397251323549","url":null,"abstract":"BackgroundCurrent functional rating scales are not sensitive to the earliest functional changes in Huntington's disease (HD).ObjectiveThe Functional Rating Scale 2.0 (FuRST 2.0) is a patient-reported outcome (PRO) measure designed to be sensitive to the initial functional changes in HD, specifically stage 2 and mild stage 3, as defined by the Huntington's Disease Integrated Staging System (HD-ISS).MethodsWe followed standard assessment development methodology to create a PRO. Study 1 consisted of a Delphi panel which analyzed data from focus groups comprised of people with HD and companions from 6 countries. This was followed by four rounds of cognitive interviews through which we evaluated respondents' comprehension of the instructions, understanding of question and response options, and comfort with the material. Informal advice from a regulatory agency was garnered throughout the process.ResultsConcerns from the target population and regulators regarding instructions, questions, response options, and comfort with the material were addressed through modifications to the scale's wording and format.ConclusionsWe developed the FuRST 2.0 official working document (OWD), the penultimate version of the scale, using focus groups, a Delphi panel, iterative rounds of cognitive interviewing, and informal regulatory advice. Its psychometric properties are being evaluated in the FOCUS-HD validation studies from which the final version of the scale will be derived. The FuRST 2.0 OWD is available for use.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251323549"},"PeriodicalIF":2.1,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Asymmetric brain atrophy in Huntington's disease: A postmortem MRI study. 亨廷顿病的不对称脑萎缩：一项死后MRI研究。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-04-13 DOI: 10.1177/18796397251333334

Eardi Lila, David Hunt, Daniel D Child, Caitlin Latimer, Bianca Le, Marie Davis, Suman Jayadev, Thomas D Bird, Ali Shojaie, Christine L Mac Donald

{"title":"Asymmetric brain atrophy in Huntington's disease: A postmortem MRI study.","authors":"Eardi Lila, David Hunt, Daniel D Child, Caitlin Latimer, Bianca Le, Marie Davis, Suman Jayadev, Thomas D Bird, Ali Shojaie, Christine L Mac Donald","doi":"10.1177/18796397251333334","DOIUrl":"https://doi.org/10.1177/18796397251333334","url":null,"abstract":"BackgroundHuntington's disease is a progressive, autosomal dominant, neurodegenerative disease caused by a CAG repeat expansion in the HTT gene. Medium spiny neurons of the striatum are especially vulnerable to the disease, and atrophy of the caudate and putamen can be documented by neuroimaging years before the onset of symptoms.ObjectiveIn this study, we aimed to characterize region-specific gray and white matter differences between Huntington's disease patients and controls.MethodsWe conducted a postmortem MRI study of the brains of 15 adults diagnosed with symptomatic Huntington's disease and 26 control subjects, aiming to compare the differences in regional grey and white matter volumes between the two groups.ResultsThe study revealed decreased volumes in both grey and white matter in patients with Huntington's disease, with the largest effect sizes observed in caudate and putamen. Notably, the atrophy predominantly affected the left hemisphere, particularly impacting grey and white matter regions adjacent to the pars opercularis, precentral, supramarginal, and pars orbitalis gyri, and the lateral orbitofrontal cortex. In the control group, asymmetry stems from larger left hemisphere regions compared to right, whereas an opposite pattern is observed in the Huntington's disease group.ConclusionsThese results suggest progressive, diffuse, and asymmetric grey and white matter atrophy occurs in Huntington's disease. The reasons for this asymmetry remain unknown; however, our study provides a more detailed characterization of previously reported grey and white matter changes in Huntington's disease, as observed through postmortem histopathological and MRI studies.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251333334"},"PeriodicalIF":2.1,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A systematic review of performance-based functional capacity measures for use in Huntington's disease and evaluation of their suitability for clinical trials. 对亨廷顿氏病的功能测试方法进行系统回顾，并评估其是否适用于临床试验。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-04-03 DOI: 10.1177/18796397251330846

Tayela M Prichard, Cali M Roiboit, Meg E Rankin, Yifat Glikmann-Johnston, Mark F Gordon, Julie C Stout

{"title":"A systematic review of performance-based functional capacity measures for use in Huntington's disease and evaluation of their suitability for clinical trials.","authors":"Tayela M Prichard, Cali M Roiboit, Meg E Rankin, Yifat Glikmann-Johnston, Mark F Gordon, Julie C Stout","doi":"10.1177/18796397251330846","DOIUrl":"https://doi.org/10.1177/18796397251330846","url":null,"abstract":"BackgroundHuntington's disease (HD) leads to a decline in functional capacity, affecting daily life tasks. Assessing functional capacity in clinical trials is crucial to evaluate treatment effectiveness and substantiate the clinical meaningfulness of more sensitive and reliable measures. Clinician rating scales are commonly used, but performance-based measures of functional capacity may offer advantages, however, there is no consensus on the suitability of existing performance-based measures for use in HD.ObjectiveWe applied a Consensus-based Standards for the selection of health Measurement INstruments (COSMIN) approach to evaluate the potential suitability of performance-based functional capacity measures for HD clinical trials. We also used criteria developed with expert input to assess these measures.MethodsWe conducted a systematic search of relevant databases and screened 1924 articles for inclusion criteria.ResultsWe included a total of 89 articles on 33 performance-based functional capacity measures. Measures were rated from Very Low to Moderate suitability for use in HD clinical trials. DriveSafe DriveAware and EcoKitchen were the only measures tested in HD participants and were rated as having Moderate and Very Low suitability respectively, highlighting the need for further evaluation. Additionally, the Brief University of California San Diego Performance-based Skills Assessment (UCSD UPSA-B) and the Virtual Reality Functional Capacity Assessment Tool (VRFCAT), were identified as potentially useful, also rated Moderate.ConclusionsMultiple performance-based functional capacity measures show potential for use in patients with HD, pending further investigation.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251330846"},"PeriodicalIF":2.1,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Emerging roles of microglia and neuroinflammation in Huntington's disease: From pathophysiology to clinical trials. 小胶质细胞和神经炎症在亨廷顿病中的新作用：从病理生理学到临床试验。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-03-28 DOI: 10.1177/18796397251330144

Muna Abedrabbo, Pardis Kazemian, Colúm Connolly, Blair R Leavitt

{"title":"Emerging roles of microglia and neuroinflammation in Huntington's disease: From pathophysiology to clinical trials.","authors":"Muna Abedrabbo, Pardis Kazemian, Colúm Connolly, Blair R Leavitt","doi":"10.1177/18796397251330144","DOIUrl":"https://doi.org/10.1177/18796397251330144","url":null,"abstract":"Microglia, the resident immune cells of the central nervous system, play a pivotal role in the response to Huntington's disease (HD) pathology. Through both cell-autonomous mechanisms and exposure to external pathogenic stimuli, microglia transition from a resting to an activated state, producing pro-inflammatory cytokines and chemokines that mediate inflammation. While this inflammatory response attempts to have a neuroprotective compensatory effect, chronic microglial activation exacerbates neuroinflammation, neurodegeneration and contributes to disease progression. Evidence from postmortem analyses and neuroimaging studies indicates that activated microglia are present in various stages of HD, correlating with neuronal degeneration and clinical symptoms. Enhanced microglial activation has been identified as an early predictor of disease onset, particularly in premanifest HD, highlighting the potential of targeting microglial pathways for therapeutic interventions. This review explores microglia's dual role in HD pathophysiology, exploring their contributions to both neuroinflammation and neuroprotection. It also examines recent advances in clinical trials aimed at modulating microglial activity, paving the way for novel therapeutic strategies to alter disease progression and improve patient outcomes.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251330144"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The glymphatic system in Huntington's disease. 亨廷顿氏病的淋巴系统。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-03-28 DOI: 10.1177/18796397251331436

Wenzhen Duan, Yuan Zhou, Hongshuai Liu

{"title":"The glymphatic system in Huntington's disease.","authors":"Wenzhen Duan, Yuan Zhou, Hongshuai Liu","doi":"10.1177/18796397251331436","DOIUrl":"https://doi.org/10.1177/18796397251331436","url":null,"abstract":"The glymphatic system, a macroscopic waste clearance network in the brain, plays a vital role in maintaining neuronal health and brain homeostasis. Functionally analogous to the lymphatic system in other organs, the term \"glymphatic\" combines \"glial\" and \"lymphatic.\" This system facilitates the exchange of cerebrospinal fluid (CSF) and interstitial fluid (ISF) in the parenchyma, aiding in the removal of soluble proteins and metabolites while distributing essential nutrients and signaling molecules. Its functionality is closely tied to aquaporin 4 (AQP4) water channels, located primarily on astrocytic endfeet, which mediate water movement between the CSF and ISF. Proper glymphatic function relies on the cellular distribution of AQP4 channels and its astroglial endfeet polarization. Emerging evidence links glymphatic dysfunction to several neurodegenerative disorders, including Huntington's disease (HD). Understanding the role of the glymphatic system in HD pathogenesis could provide novel insights into disease pathogenesis and new therapeutic approaches. This review examines the connection between glymphatic dysfunction and HD, highlighting future research directions and therapeutic advancement for HD. It explores pharmacological interventions and lifestyle modifications aimed at optimizing glymphatic function to improve HD management.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251331436"},"PeriodicalIF":2.1,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deutetrabenazine treatment outcomes with doses above U.S. Food and Drug Administration maximum approved doses in Huntington's disease chorea: A dual-site analysis. 剂量高于美国食品和药物管理局批准的最大剂量的去四苯那嗪治疗亨廷顿舞蹈病的结果：一项双位点分析

IF 2.1

Journal of Huntington's disease Pub Date : 2025-03-23 DOI: 10.1177/18796397251323293

Kayla Dodson, Sabrina Livezey, Brittany Denson, Leena Choi, Josh DeClercq, Autumn D Zuckerman, Kayla Johnson

{"title":"Deutetrabenazine treatment outcomes with doses above U.S. Food and Drug Administration maximum approved doses in Huntington's disease chorea: A dual-site analysis.","authors":"Kayla Dodson, Sabrina Livezey, Brittany Denson, Leena Choi, Josh DeClercq, Autumn D Zuckerman, Kayla Johnson","doi":"10.1177/18796397251323293","DOIUrl":"https://doi.org/10.1177/18796397251323293","url":null,"abstract":"BackgroundDeutetrabenazine, a vesicular monoamine transporter 2 inhibitor, is one of few treatment options available for Huntington's disease (HD) chorea. There is limited data describing clinical experience with deutetrabenazine doses >48 mg daily.ObjectiveDescribe treatment outcomes for deutetrabenazine >48 mg daily.MethodsA dual site retrospective cohort study of patients on deutetrabenazine titrated to doses >48 mg/day for HD chorea from April 2017 through December 2021 was conducted. Patients using concomitant strong CYP2D6 inhibitors at time of deutetrabenazine initiation, those who became deceased or lost to follow-up within six months of dose increase above 48 mg/day, or previously enrolled in a study on >48 mg daily and moving to commercial product were excluded. Outcomes were reported descriptively including therapeutic response, adverse effects (AEs), adherence (measured by proportion of days covered [PDC]), and discontinuation.ResultsThirty patients were included: 47% female, 93% White, median age 56 years. Most patients required dose escalations for inadequate response. The rate of AEs reported before and after transitioning to doses >48 mg/day was the same. Psychiatric changes were less commonly reported at doses >48 mg/day, but extrapyramidal symptoms were more common. The median total maximum chorea score in the Unified HD Rating Scale was 13 (IQR 9-19) and 13 (IQR 7-18) at baseline and follow-up, respectively. Median PDC was 0.99 (IQR 0.94-1.00); two patients discontinued therapy due to AEs.ConclusionsDeutetrabenazine >48 mg daily appears safe and well tolerated in patients with uncontrolled HD chorea, though no significant change in total maximal chorea score was found.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"18796397251323293"},"PeriodicalIF":2.1,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington's disease. 通过他们的眼睛：对父母患有亨廷顿舞蹈病的儿童成长经历和支持需求的回顾性混合方法研究。

IF 2.1

Journal of Huntington's disease Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI: 10.1177/18796397241304333

Maud Mj Daemen, Annelien A Duits, Lucienne B van der Meer, Ruben L Andriessen, Ruth B Veenhuizen, Renske Wassenberg, Tanja Peeters, Lia de Jager, Mayke Oosterloo

{"title":"Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington's disease.","authors":"Maud Mj Daemen, Annelien A Duits, Lucienne B van der Meer, Ruben L Andriessen, Ruth B Veenhuizen, Renske Wassenberg, Tanja Peeters, Lia de Jager, Mayke Oosterloo","doi":"10.1177/18796397241304333","DOIUrl":"10.1177/18796397241304333","url":null,"abstract":"BackgroundGrowing up with a parent with Huntington's disease (HD) profoundly impacts children. However, this impact and children's needs are often misunderstood, even by professional services. Even when resources are available, children often feel that their needs are unmet, raising concerns about the adequacy of available guidance and support.ObjectiveThis study aims to offer an in-depth understanding of the multifaceted impact of growing up with a parent with HD, examining the needs for professional guidance on emotional and social aspects, and identifying specific areas where support can be improved to better aid them.MethodsThis retrospective study utilized an exploratory sequential mixed methods design, combining qualitative focus groups (n = 13) and a quantitative survey (n = 23). Qualitative data were analyzed using an inductive thematic analysis with a descriptive phenomenological approach. Quantitative data were analyzed using descriptive statistics.ResultsThe impact of HD on children extends across various domains, affecting self-development, social interactions, and family dynamics. Support received at home varied, with limited access to professional help. Support needs primarily revolved around emotional support and access to comprehensive information. Key support providers, such as parents, peers, mentors, healthcare providers and coaches with expertise in HD, play crucial roles in addressing these needs.ConclusionsThe study underscores challenges faced by children in HD families. By centering our efforts on the emotional well-being of these children, offering tailored information, involving their social network, providing community-based support, and strengthening parental support systems, we can improve the support required by children in these families.","PeriodicalId":16042,"journal":{"name":"Journal of Huntington's disease","volume":" ","pages":"93-102"},"PeriodicalIF":2.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0