Patients' self-perceived burden, caregivers' burden and quality of life for amyotrophic lateral sclerosis patients: a cross-sectional study.

AIMS AND OBJECTIVES: This study surveys the quality of life of amyotrophic lateral sclerosis patients and the factors associated with amyotrophic lateral sclerosis patients' self-perceived burden and their caregivers' burden. BACKGROUND: Burdens of patients with amyotrophic lateral sclerosis and their caregivers in Chinese population are largely unknown. DESIGN: A cross-sectional study was conducted among 81 pairs of amyotrophic lateral sclerosis patients and their caregivers. METHODS: Amyotrophic lateral sclerosis patients' self-perceived burden and caregivers' burden were assessed by the Self-Perceived Burden Scale and Zarit-Burden Interview, respectively. Quality of life of amyotrophic lateral sclerosis patients was measured using the World Health Organization Quality of Life-Bref. The amyotrophic lateral sclerosis Functional Rating Scale-Revised questionnaire was used to estimate patients' physical function. RESULTS: Both patients and caregivers reported a mild to moderate burden. The World Health Organization quality of life-Bref scores were decreased in respondents with lower amyotrophic lateral sclerosis Functional Rating Scale-Revised, higher Self-Perceived Burden Scale and higher Zarit-Burden Interview scores. Self-Perceived Burden Scale scores were associated with patients' knowledge of amyotrophic lateral sclerosis, respiratory function and female sex. Zarit-Burden Interview scores were associated with caregivers' age, patients' motor function and out-of-pocket payment. CONCLUSION: With increase in amyotrophic lateral sclerosis patients' self-perceived burden and caregivers' burden, quality of life of amyotrophic lateral sclerosis patients decreased. Female patients, who had known more about the disease, and those with severe respiratory dysfunction were subject to higher self-perceived burden. Older caregivers and caregivers of patients with severe motor dysfunction and more out-of-pocket payment experienced more care burdens. RELEVANCE TO CLINICAL PRACTICE: Our study suggests that paying more attention to female amyotrophic lateral sclerosis patients might benefit patients in China or other South-East Asian countries under the Confucian concept of ethics. There is an urgent demand to expand medical insurance coverage to cover amyotrophic lateral sclerosis in China and other developing countries. Long and adequate supports are needed for relieving caregiver's burden. To improve the quality of life of patients, relieving the patients' SBP and caregivers' burden is likely to be not only required, but also essential.

Assessment of a multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis.

BACKGROUND: The aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS). METHODS: Forty patients with sporadic ALS and 40 controls with other neurological diseases were evaluated. Levels of phosphorylated neurofilament heavy chain (pNfH), S100-ß, cystatin C, and chitotriosidase (CHIT) in cerebrospinal fluid were assayed using two-site solid-phase sandwich ELISA. RESULTS: Patients with sporadic ALS showed higher levels of pNfH and CHIT than controls, but lower levels of cystatin C. Multivariate logistic regression that adjusted for patient age and sex identified significant associations between sporadic ALS and levels of pNfH, CHIT and cystatin C. Levels of pNfH correlated positively with rate of progression and decline based on the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised. Based on receiver operating curve analysis, a pNfH cut-off of 437 ng/L discriminated patients from controls with a sensitivity of 97.3 % and specificity of 83.8 %. A CHIT cut-off of 1593.779 ng/L discriminated patients from controls with a sensitivity of 83.8 % and specificity of 81.1 %. Combining the two biomarkers gave a sensitivity of 83.8 % and specificity of 91.9 %. CONCLUSIONS: Levels of pNfH in cerebrospinal fluid may be a reliable biomarker for diagnosing ALS, and combining this biomarker with levels of CHIT may improve diagnostic accuracy.

Assessment of TREM2 rs75932628 association with amyotrophic lateral sclerosis in a Chinese population.

Although, rs75932628 in triggering receptor expressed on myeloid cells 2 (TREM2) was shown to increase the risk for Alzheimer's disease, there is no agreement on the association between this variant and the risk for amyotrophic lateral sclerosis (ALS). We conducted a large-sample study to investigate if this variant is associated with ALS in a Chinese population. A total of 868 sporadic ALS (SALS) and 869 healthy controls were included. All cases were genotyped for the single nucleotide polymorphisms (SNP) using Sequenom iPLEX Assay technology. The rs75932628-T variant of the TREM2 gene was not identified in SALS patients and controls. It is unlikely to play a role in the pathogenesis of ALS in Chinese patients with SALS.

Assessment of TREM2 rs75932628 association with Parkinson's disease and multiple system atrophy in a Chinese population.

Although rs75932628 in triggering receptor expressed on myeloid cells 2 (TREM2) was shown to increase the risk for Alzheimer's disease, there is no agreement on the association between this variant and the risk for Parkinson's disease (PD). Considering the overlapping of clinical manifestation and pathologic characteristics of PD and multiple system atrophy (MSA), we conducted a large-sample study to investigate the associations between this variant and these two neurodegenerative diseases in a Chinese population. A total of 1216 PD, 406 MSA patients, and 869 healthy controls were included. All cases were genotyped for the Single Nucleotide Polymorphisms (SNP) using Sequenom iPLEX Assay technology. The rs75932628-T variant of the TREM2 gene was not identified in PD patients and controls. The genotype frequency of rs75932628-T SNP in MSA patients was 0.25% (1/406). However, no significant correlation was identified between this variant and the risk for MSA. TREM2 rs75932628 is unlikely to play a major role in the pathogenesis of these neurodegenerative diseases. Our findings argue against a generalized immune dysfunction triggered by the variant in the TREM2 gene.