29 research outputs found
Znaczenie badania psychiatrycznego w predykcyjnych badaniach genetycznych w kierunku choroby Huntingtona
Background and purpose
Huntington disease (HD) is an autosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromosome 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiatric disorders. The diagnosis of HD is confirmed by a genetic test, which may also be carried out presymptomatically.
Material and methods
We studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA).
Results
People at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called ‘positive symptom distress index’ in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue.
Conclusions
Our results indicate that the formalized testing does not bring significant information whereas the clinical psychiatrie examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making proces.Wstęp i cel pracy
Choroba Huntingtona (ChH) jest dziedziczoną autosomalnie dominująco chorobą zwyrodnieniową układu nerwowego ze zwiększoną liczbą powtórzeń trypletów CAG na krótkim ramieniu chromosomu 4. Manifestuje się zaburzeniami ruchowymi, zaburzeniami poznawczymi postępującymi do otępienia oraz rozmaitymi zaburzeniami neuropsychiatrycznymi. Rozpoznanie ChH jest potwierdzane badaniem genetycznym, które może być wykonywane również u osób przed wystąpieniem objawów klinicznych.
Materiał i metody
Autorzy oceniali różnice w zakresie wyników badania psychiatrycznego i miar psychometrycznych wśród 52 osób zagrożonych rozwojem ChH, u których zalecano kontynuowanie lub odroczenie postępowania zmierzającego do wykonania badania genetycznego. Oprócz badania stanu psychicznego stosowano Eysenck Personality Questionnaire (EPQ-A), Symptom Checklist 90 (SCL-90) oraz kwestionariusz oceniający jakość życia (MANSA).
Wyniki
Osoby zagrożone wystąpieniem ChH, u których zalecano odroczenie badania genetycznego, uzyskiwały mniejszą punktację w skali Neurotyzmu i Kłamstw EPQ-A, większą punktację w skali oceny fobii i tzw. dodatniego wskaźnika obciążenia objawami w SCL-90, a także miały gorszą jakość życia niż osoby zagrożone ChH, u których zalecano kontynuowanie procedury zmierzającej do wykonania badania genetycznego.
Wnioski
Uzyskane wyniki wskazują, że sformalizowana ocena nie dostarcza istotnych informacji, podczas gdy kliniczne badanie psychiatryczne pozostaje głównym czynnikiem decydującym o zalecaniu wykonania badania genetycznego. Najważniejszym czynnikiem w podejmowaniu decyzji jest motywacja osób zgłaszających się na badanie
Could hyperlipidemia be a risk factor for corticobasal syndrome? — a pilot study
Introduction. Corticobasal syndrome (CBS) is a specific clinical manifestation shared by multiple pathologies. The exact mechanism of this phenomenon remains unclear. Differential diagnosis of CBS in everyday clinical practice is challenging, as this syndrome can overlap with other entities, especially progressive supranuclear palsy Richardson-Steele phenotype (PSP-RS). Several papers have suggested a possible role of vascular pathology as a linking factor in the pathogenesis of CBS based on different neuropathologies. This paper analyses differences in the occurrence of the most common vascular risk factors such as hypertension and lipid profile with respect to dietary habits among patients who fulfill the diagnostic criteria for probable/possible CBS and PSP-RS.
Material and methods. Seventy (70) patients in total were included in the study. Exclusion criteria comprised hydrocephalus, stroke in the past, the presence of marked vascular changes in white matter defined as the presence of vascular change ≥ 1 mm in 3T MRI, medical history of hyperlipidemia or the use of drugs that could impact upon lipid metabolism before the initiation of the neurodegenerative disease, and neoplastic focuses in the central nervous system. Patients with diabetes, or with BMI exceeding 18–25, or who were smokers, or who were affected by chronic stress were also excluded. Data was analysed statistically using the Shapiro-Wilk test, the U Mann-Whitney test for group comparison, and a Bonferroni correction to control the false discovery rate (FDR).
Results. Our obtained results indicated a statistically significantly higher level of total cholesterol in the CBS group (p = 0.0039) without a correlation with dietary habits.
Conclusions and clinical implications. The results obtained in our study may suggest a possible role of vascular pathology in CBS development. This issue requires further research
Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach
Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that affects the quality of life (QoL) of HD gene expansion carriers (HDGECs) and their partners. Although HD expertise centers have been emerging across Europe, there are still some important barriers to care provision for those affected by this rare disease, including transportation costs, geographic distance of centers, and availability/accessibility of these services in general. eHealth seems promising in overcoming these barriers, yet research on eHealth in HD is limited and fails to use telehealth services specifically designed to fit the perspectives and expectations of HDGECs and their families. In the European HD-eHelp study, we aim to capture the needs and wishes of HDGECs, partners of HDGECs, and health care providers (HCPs) in order to develop a multinational eHealth platform targeting QoL of both HDGECs and partners at home.Methods: We will employ a participatory user-centered design (UCD) approach, which focusses on an in-depth understanding of the end-users' needs and their contexts. Premanifest and manifest adult HDGECs (n = 76), partners of HDGECs (n = 76), and HCPs (n = 76) will be involved as end-users in all three phases of the research and design process: (1) Exploration and mapping of the end-users' needs, experiences and wishes; (2) Development of concepts in collaboration with end-users to ensure desirability; (3) Detailing of final prototype with quick review rounds by end-users to create a positive user-experience. This study will be conducted in the Netherlands, Germany, Czech Republic, Italy, and Ireland to develop and test a multilingual platform that is suitable in different healthcare systems and cultural contexts.Discussion: Following the principles of UCD, an innovative European eHealth platform will be developed that addresses the needs and wishes of HDGECs, partners and HCPs. This allows for high-quality, tailored care to be moved partially into the participants' home, thereby circumventing some barriers in current HD care provision. By actively involving end-users in all design decisions, the platform will be tailored to the end-users' unique requirements, which can be considered pivotal in eHealth services for a disease as complex and rare as HD
Huntington's disease: analysis of relationship among clinical, functional and morphometric parameters
Department of Neurology First Faculty of Medicine and General University Hospital in PragueNeurologická klinika 1. LF UK a VFN v PrazeFirst Faculty of Medicine1. lékařská fakult
Huntington's disease: analysis of relationship among clinical, functional and morphometric parameters
Huntington's disease: analysis of relationship among clinical, functional and morphometric parameters
Department of Neurology First Faculty of Medicine and General University Hospital in PragueNeurologická klinika 1. LF UK a VFN v PrazeFirst Faculty of Medicine1. lékařská fakult
Correlation between relaxometry and diffusion tensor imaging in the globus pallidus of Huntington's disease patients.
Huntington's disease (HD) is an inherited neurodegenerative disorder with progressive impairment of motor, behavioral and cognitive functions. The clinical features of HD are closely related to the degeneration of the basal ganglia, predominantly the striatum. The main striatal output structure, the globus pallidus, strongly accumulates metalloprotein-bound iron, which was recently shown to influence the diffusion tensor scalar values. To test the hypothesis that this effect dominates in the iron-rich basal ganglia of HD patients, we examined the globus pallidus using DTI and T2 relaxometry sequences. Quantitative magnetic resonance (MR), clinical and genetic data (number of CAG repeats) were obtained from 14 HD patients. MR parameters such as the T2 relaxation rate (RR), fractional anisotropy (FA) and mean diffusivity (MD) were analysed. A positive correlation was found between RR and FA (R2=0.84), between CAG and RR (R2=0.59) and between CAG and FA (R2=0.44). A negative correlation was observed between RR and MD (R2=0.66). A trend towards correlation between CAG and MD was noted. No correlation between MR and clinical parameters was found. Our results indicate that especially magnetic resonance FA measurements in the globus pallidus of HD patients may be strongly affected by metalloprotein-bound iron accumulation
Hypernasality associated with basal ganglia dysfunction: evidence from Parkinson’s disease and Huntington’s disease
Background Although increased nasality can originate from basal ganglia dysfunction, data regarding hypernasality in Parkinson’s disease (PD) and Huntington’s disease (HD) are very sparse. The aim of the current study was to analyze acoustic and perceptual correlates of velopharyngeal seal closure in 37 PD and 37 HD participants in comparison to 37 healthy control speakers. Methods Acoustical analysis was based on sustained phonation of the vowel /i/ and perceptual analysis was based on monologue. Perceptual analysis was performed by 10 raters using The Great Ormond Street Speech Assessment ’98. Acoustic parameters related to changes in a 1/3-octave band centered on 1 kHz were proposed to reflect nasality level and behavior through utterance. Results Perceptual analysis showed the occurrence of mild to moderate hypernasality in 65% of PD, 89% of HD and 22% of control speakers. Based on acoustic analyses, 27% of PD, 54% of HD and 19% of control speakers showed an increased occurrence of hypernasality. In addition, 78% of HD patients demonstrated a high occurrence of intermittent hypernasality. Further results indicated relationships between the acoustic parameter representing fluctuation of nasality and perceptual assessment (r = 0.51, p < 0.001) as well as the Unified Huntington Disease Rating Scale chorea composite subscore (r = 0.42, p = 0.01). Conclusions In conclusion the acoustic assessment showed that abnormal nasality was not a common feature of PD, whereas patients with HD manifested intermittent hypernasality associated with chorea