Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.

BACKGROUND AND AIM: Patient-reported outcome measures (PROMs) are recognized as valuable measures in the clinical setting. In 2018 we developed the Italian version of the "Hereditary Spastic Paraplegia-Self Notion and Perception Questionnaire" (HSP-SNAP), a disease-specific questionnaire that collects personal perception on motor symptoms related to HSP such as stiffness, weakness, imbalance, reduced endurance, fatigue and pain. In this study our primary aim was to assess the questionnaire validity and reliability. Our secondary aim was to characterize the symptoms "perceived" by patients with HSP and compare them with those "perceived" by age-matched healthy subjects. METHODS: The 12-item HSP-SNAP questionnaire was submitted to 20 external judges for comprehensibility and to 15 external judges for content validity assessment. We recruited 40 subjects with HSP and asked them to fill the questionnaire twice for test-retest procedure. They also completed the Medical Outcome Survey Short Form (SF-36) and were evaluated by the Spastic Paraplegia Rating Scale and the Six-Minute Walk Test. We also recruited 44 healthy subjects who completed the HSP-SNAP once to test score variability. RESULTS: The HSP-SNAP content validity index was high (0.8±0.1) and the test-retest analysis showed high reliability (ICC = 0.94). The mean HSP-SNAP score (score range 0-48) of the HSP group was 22.2±7.8, which was significantly lower than healthy subjects (43.1±6.3). The most commonly perceived symptom was stiffness, followed by weakness and imbalance. CONCLUSION: Although HSP-SNAP does not investigate non-motor symptoms and we validated only its Italian version, it showed good validity and reliability and it could be used in combination with other objective outcome measures for clinical purposes or as endpoints for future clinical rehabilitation studies. TRIAL REGISTRATION: Trial Registration: ClinicalTrial.gov, NCT04256681. Registered 3 February 2020.

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.

INTRODUCTION: The Hereditary Spastic Paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and lower limbs (LL) weakness. There is no treatment to cure or halt the disease, except for symptomatic therapy. The use of botulinum toxin type A (BoNT-A) is one of the primary treatment for focal spasticity. Physiotherapy (PT) can help in maintaining residual functioning. We performed a retrospective study to evaluate the effect of the combined BoNT-A and intensive PT in patients with HSP. METHODS: Eighteen adult patients (50% females) with clinical diagnosis of HSP were recruited. Eleven patients had a genetic diagnosis of SPG4, 5, 7, 8, 11, 72. Patients were all autonomously deambulant or needed support. BoNT-A was injected in 36 LL in different spastic muscles under electromyographic guidance and followed by intensive PT sessions. Outcome measures included disease severity, motor functional measures, perceived pain self-report and quality of life. Assessments occurred at baseline, 1 and 3 months after BoNT-A injection. RESULTS: Most inoculated muscles were hamstrings, rectus femoris and gastrocnemius. We observed an improvement in muscle tone, in the gait velocity and distance length. Spastic Paraplegia Rating Scale was significantly reduced after treatment, in addition to improving pain and quality of life. These results were riconfirmed in 3 months time. CONCLUSION: Our study indicates that combined treatment of BoNT-A and PT can lead to improvement of spasticity and quality of life in patients with HSP.

Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report.

Introduction: In-vivo objective documentation of pathological changes in neurodegenerative disease is a major aim to possibly improve our ability to monitor disease progression and response to treatment. Temporal thinning of the retinal nerve fiber layer (RNFL) thickness shown by spectral domain optical coherence tomography (SD-OCT) has been reported in association with the complex forms in hereditary spastic paraplegia (HSP). We performed an assessment of the RNFL thickness in a group of HSP patients, including a longitudinal follow-up in a subgroup. Our aim was to measure and compare the changes and correlate them to clinical progression. Materials and Methods: Twenty-three HSP patients were recruited and studied with the SD-OCT including papillary and macular scan by Spectralis. The clinical severity was assessed using the Spastic Paraplegia Rating Scale. Results: Thinning of the superior, nasal and inferior quadrants bilaterally were observed compared to the normative data in both pure and complicated forms, that were clearly pathological only in a proportion of cases. Thinning correlated with age and disease duration, but not with clinical severity. The longitudinal study (n = 9) showed no significant change compared to the baseline data for the period of observation (mean 10.7 months). Conclusions: RFNL is frequently thinned in HSP with no specific recognizable pattern of quadrants involved and SPG types. The small sample size and the short follow-up time showed no clear progression. Although SD-OCT appraisal of RFNL deserves to be explored in neurodegenerative conditions, it might not be suitable for use as a biomarker in HSP as it appears not to be specific to this condition and can be a feature of aging.