ABSTRACT
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP. METHODS: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores (MCS and PCS) in 143 German patients with HSP. Disease severity was assessed by the Spastic Paraplegia Rating Scale (SPRS) and landmarks of walking ability. Patients with 'pure' or 'complicated' HSP were compared. RESULTS: Higher SPRS scores indicating higher disease severity correlated significantly with lower PCS (r = -0.63; P < 0.0005) and MCS (r = -0.38; P < 0.0005) scores. MCS and PCS were reduced in patients with 'complicated' forms compared to 'pure' HSP and with decreasing walking ability. CONCLUSION: HRQoL is substantially impaired in patients with HSP and decreases with disease severity and the presence of 'complicating' symptoms. Patients are most affected by the physical restraints of their disease, but mental health is impaired as well. HRQoL is a valid parameter in HSP that should be considered in upcoming therapeutical trials.
Subject(s)
Health Status , Quality of Life , Spastic Paraplegia, Hereditary/complications , Spastic Paraplegia, Hereditary/psychology , Adult , Age of Onset , Female , Humans , Male , Middle Aged , Severity of Illness IndexABSTRACT
OBJECTIVE: To obtain quantitative data on the progression of the most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated the EUROSCA natural history study, a multicentric longitudinal cohort study of 526 patients with SCA1, SCA2, SCA3, or SCA6. We report the results of the 1- and 2-year follow-up visits. METHODS: As the primary outcome measure we used the Scale for the Assessment and Rating of Ataxia (SARA, 0-40), and as a secondary measure the Inventory of Non-Ataxia Symptoms (INAS, 0-16) count. RESULTS: The annual increase of the SARA score was greatest in SCA1 (2.18 ± 0.17, mean ± SE) followed by SCA3 (1.61 ± 0.12) and SCA2 (1.40 ± 0.11). SARA progression in SCA6 was slowest and nonlinear (first year: 0.35 ± 0.34, second year: 1.44 ± 0.34). Analysis of the INAS count yielded similar results. Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2. In SCA1, repeat length of the expanded allele had a similar effect on INAS progression. In SCA3, SARA progression was influenced by the disease duration at inclusion, and INAS progression was faster in females. CONCLUSIONS: Our study gives a comprehensive quantitative account of disease progression in SCA1, SCA2, SCA3, and SCA6 and identifies factors that specifically affect disease progression.
Subject(s)
Disease Progression , Machado-Joseph Disease/classification , Machado-Joseph Disease/diagnosis , Spinocerebellar Ataxias/classification , Spinocerebellar Ataxias/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Cohort Studies , Female , Follow-Up Studies , Humans , Longitudinal Studies , Machado-Joseph Disease/epidemiology , Male , Middle Aged , Prospective Studies , Retrospective Studies , Spinocerebellar Ataxias/epidemiology , Young AdultABSTRACT
Regarding the high prevalence of traumatic experiences in patients with borderline personality disorders (BPD), we review the available literature focussing on the hypothesis that BPD is a subtype of trauma associated disorders. The criteria of BPD, of complex post-traumatic stress disorders (PTSD), and of disorders of extreme stress not otherwise specified (DESNOS) substantially overlap. Research of the long-term course of BPD and PTSD, trauma research, and research of vulnerability in both disorders yielded converging results. Neuropsychological deficits in BPD and PTSD as well as psychoendocrinological and neuroimaging studies in BPD und PTSD also revealed common features. A pathogenetic specificity of individual etiologic factors does not appear to exist, however the assumption of a diathesis-stress model with traumatisation as a necessary but etiologically insufficient condition seems justified. Further research will have to prove BPD as a complex and early-onset post-traumatic stress disorder after multiple and/or chronic (type II) traumatic experiences during childhood and/or youth. Definitive conclusions require further research efforts.
