Dataset Information

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

ABSTRACT:

Background

Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS.

Objective

To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors.

Methods

In a prospective cohort study, we performed a cross-sectional analysis of NMS in 227 SCA3 patients, 42 pre-ataxic mutation carriers, and 112 controls and tested for associations with SARA score, activities of daily living, and the lifestyle factors alcohol consumption, smoking and physical activity.

Results

Sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction and pallhypesthesia were frequent among SCA3 patients, while mainly absent in pre-ataxic mutation carriers. Except for restless legs syndrome, NMS correlated significantly with disease severity and activities of daily living. Alcohol abstinence was associated with bladder dysfunction. Patients with higher physical activity showed less cognitive impairment and fewer depressive symptoms, but these differences were not significant.

Conclusion

This study revealed a clear association between disease severity and NMS, likely driven by the progression of the widespread neurodegenerative process. Associations between lifestyle and NMS can probably be attributed to the influence of NMS on lifestyle.

SUBMITTER: Hengel H

PROVIDER: S-EPMC9886646 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Publications

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

Hengel Holger H Martus Peter P Faber Jennifer J Giunit Paola P Garcia-Moreno Hector H Solanky Nita N Klockgether Thomas T Reetz Kathrin K van de Warrenburg Bart P BP Santana Magda M MM Silva Patrick P Cunha Inês I de Almeida Luís Pereira LP Timmann Dagmar D Infante Jon J de Vries Jeroen J Lima Manuela M Pires Paula P Bushara Khalaf K Jacobi Heike H Onyike Chiadi C Schmahmann Jeremy D JD Hübener-Schmid Jeannette J Synofzik Matthis M Schöls Ludger L

Journal of neurology 20221102 2

<h4>Background</h4>Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS.<h4>Objective</h4>To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle factors.<h4>Methods</h4>In a prospective cohort study, we performed a cros ...[more]

PMID: 36324033

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Project description:The clinical phenotype of Parkinson's disease (PD) encompasses a wide range of non-motor symptoms (NMS) compromising the quality of life of affected patients. Currently, information about NMS in PD is scarce among Hispanic populations. Furthermore, few studies have reported the temporal pattern of NMS presentation. We conducted a cross-sectional study aimed to describe the frequency and time of NMS occurrence in Hispanic patients with PD using the self-completed NMS questionnaire (NMSQuest). Participants were interrogated about the time of each NMS presentation respect to the onset of motor symptoms. The frequency of NMS was described according to gender, age at disease onset, disease duration and Hoehn and Yahr (H&Y) stage. We enrolled 120 patients, 73.33% males and 26.66% females, with a mean age of 63.33 ± 8.60 years. All the participants presented at least 1 NMS. The median number of NMS per patient was 12. The most frequent NMS domains were miscellaneous, urinary tract, sleep/fatigue, and gastrointestinal tract symptoms, with no significant gender differences. The most frequent individual NMS were nocturia, urinary urgency, feeling sadness, and constipation. Any patient reported NMS before the onset of motor manifestations. The pattern of occurrence of NMS domains in our population was as follows: attention/memory, cardiovascular, gastrointestinal tract, perceptual problems/hallucinations, mood/cognition, urinary, miscellaneous, sleep/fatigue, and sexual function. Nausea/vomiting was the earliest symptom observed in all patients, whereas sexual dysfunction and changes in interest for sex were the last symptoms to occur. We found no differences in the total number and frequency of NMS between participants grouped according to their age at disease onset. Conversely, patients with a duration of disease >10 years reported a higher frequency of NMS compared to participants with a duration of disease < 10 years. The total number of NMS per patient increased as the HY stage progressed. The proportion of patients presenting symptoms of the gastrointestinal tract, urinary tract, mood/cognition, cardiovascular, and sexual function domains was higher in the HY 4-5 group. Our study provides relevant data to improve our understanding of NMS in PD, which may contribute to anticipate and plan diagnostic and therapeutic strategies among Hispanic PD patients.

Project description:People with motor neuron disease often experience non-motor symptoms that may occur secondary to, or distinct from, motor degeneration and that may significantly reduce quality of life, despite being under-recognized and evaluated in clinical practice. Non-motor symptoms explored in this population-based study include pain, fatigue, gastrointestinal issues, poor sleep, low mood, anxiety, problematic saliva, apathy, emotional lability, cognitive complaints and sexual dysfunction. People registered on the Clinical Audit Research and Evaluation of motor neuron disease platform, the Scottish Motor Neuron Disease Register, were invited to complete a questionnaire on non-motor symptoms and a self-reported Amyotrophic Lateral Sclerosis Functional Rating Scale. The questionnaire comprised a pre-defined list of 11 potential non-motor symptoms, with the opportunity to list additional symptoms. A total of 120 individuals participated in this cross-sectional study, a 39% response rate of those sent questionnaires (n = 311); 99% of participants recruited (n = 120) experienced at least one non-motor symptom, with 72% (n = 120) reporting five or more. The symptoms most often reported were pain and fatigue (reported by 76% of participants, respectively). The symptoms reported to be most impactful were gastrointestinal issues (reported as 'severe' by 54% of participants who experienced them), followed by pain and problematic saliva (51%, respectively). Lower Amyotrophic Lateral Sclerosis Functional Rating Scale scores, indicating more advanced disease and being a long survivor [diagnosed over 8 years ago; Black et al. (Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. Neurobiol Aging. 2017;51:178.e11-178.e20.)], were significantly associated with reporting more symptoms; 73% of respondents were satisfied with the frequency that non-motor symptoms were discussed in clinical care; 80% of participants indicated they believe evaluation of non-motor symptom is important to include as outcomes in trials, independent of their personal experience of these symptoms. The preferred method of assessment was completing questionnaires, at home. The overwhelming majority of people with motor neuron disease report non-motor symptoms and these frequently co-occur. Pain, fatigue, gastrointestinal issues, sleep, mood, anxiety, problematic saliva, apathy, emotional lability, cognitive complaints and sexual dysfunction are prevalent. People with motor neuron disease who had worse physical function and those who were long survivors were more likely to report more symptoms. Where reported, these symptoms are frequent, impactful and a priority for people with motor neuron disease in clinical care and trial design.

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Dataset Information

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

Background

Objective

Methods

Results

Conclusion

Publications

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

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