My On-line Research

I have undertaken four on-line surveys (annually since 2013) for people with HSP. These were reported on Rare Disease Day the following year. The surveys each had around 100 respondents predominantly from the USA and the UK, but also Europe, Australia and other places.


2016: Fatigue, Bladder and Bowel Issues, HSP information sources:

My fourth on-line survey took place between September 2016 and January 2017. 169 respondents with Hereditary Spastic Paraplegia (HSP) completed the survey, predominantly from the USA and the UK. The survey covered fatigue, bladder and bowel effects, and sources of HSP information. Respondents also answered questions about their mobility allowing trends to be spotted with level of mobility.

Three short form fatigue questionnaires were selected as they have previously been used to assess fatigue in HSP or similar conditions:
  • Neurological Fatigue Index (NFI-MS, a 9 question survey)
  • Modified Fatigue Impact Scale (MFIS-5, a 5 question survey)
  • Brief Fatigue Inventory (BFI, a 9 question survey)
The MFIS-5 questionnaire shows that whilst the physical factors of HSP contribute the most to fatigue there is also an important cognitive aspect. Those with SPG7 tend to have a higher level of fatigue than those with SPG4. A 21 question version of the MFIS questionnaire was previously used to assess fatigue in people with SPG4 in Brazil, and these results are similar. The BFI questionnaire shows that around 90% of people with HSP have moderate or severe fatigue.

The average scores for all of the questionnaires show that fatigue is generally independent of mobility. Those respondents who do not use mobility aids tended to score slightly lower fatigue levels than those who use mobility aids all or most of the time, but there is a wide spread of data, and there are some who do not use mobility aids who have higher levels of fatigue than those who use mobility aids all the time.

The ICIQ-OAB and parts of the ICIQ-B questionnaires were used to assess bladder and bowel effects. The results of the bladder questions appear to be broadly in line with two previous studies examining bladder issues in people with HSP, from France and Estonia.

Two thirds of people with HSP have no or mild bladder effects, and around one third have moderate or severe effects. There is a general trend that the milder effects tend to be with those with lower mobility issues, and the effects tend to be more severe with those with higher mobility issues. The key bladder symptoms appear to be frequency and incontinence, affecting the greatest proportion of respondents. Many respondents are bothered quite a lot by these symptoms.

Around three fifths of people with HSP have mild bowel effects, and around one third have moderate effects. Severe effects are not reported. There is a general trend that the milder effects tend to be with those with lower mobility issues, and the effects tend to be more severe with those with higher mobility issues. The key bowel symptoms are urgency and hesitancy, affecting the greatest proportion of respondents. Those with more symptoms tend to have higher levels of bother about these symptoms.

Most people get their information about HSP from social media, doctors and neurologists. The sources which people regarded as most trustworthy were neurologists, support groups and physiotherapists.

Respondents identified factors of ‘accuracy’ and ‘being backed up by research’ as being most important when evaluating information sources. Neurologists, doctors and medical journals scored highest on these factors. Work on patient doctor relationships may be needed so that doctors understand patient situations better.

Blog post: http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html

Full analysis: https://drive.google.com/open?id=0BzEoTkR5HCWhSEQ1UElwamVod3c

2016: Poster for International HSP meeting

https://drive.google.com/file/d/0BzEoTkR5HCWhNzllZWZWR05qWk0/view
Note, some browsers do not appear to like this file. You should be able to download the file and view in acrobat reader v8 or v9.
A more compatible, but bigger file size version is here: https://drive.google.com/file/d/0BzEoTkR5HCWhTklWZFNDWGlSYlU/view


2015: Modifications at Home, Depression and Quality of Life

Respondents indicated that there is a wide range of modifications that they have made around their properties. Modifications tend to be made after an accident or after noticing a change in mobility/symptoms, although some people are making modifications early and are planning for future changes. Frequently, the first modifications made are the installation of grab rails within the property, and these are often fitted in the bathroom first. Subsequent modifications are made depending on the rate of progression of HSP. The parts of properties which are modified the most after the inclusion of grab rails are the bathroom/toilet with a range of different modifications made. Adjustments to beds are also relatively common. Respondents indicated the benefits from the different modifications they had made.

People with HSP appear to suffer from depression more than the general population. Respondents completed the PHQ-2 depression screening questionnaire, which showed that around a quarter should seek further assessment. Results have been compared with the 2009 Estonian study into depression with HSP, and a similar proportion of people with scores of zero, indicating no depression, is shown.


Respondents also completed a sample of questions from the Patients Like Me Quality of Life survey and it is concluded that HSP appears to affect quality of life. From the data there appears to be two step changes in quality of life. The first step change is in social functioning at the point when mobility aids are needed and the second step change is in physical functioning when mobility aids need to be relied on most or all of the time.


2014: Medication, Diet, Exercise and Relaxation

The results showed that around three quarters of people are prescribed at least one form of medication for their HSP. Of those who do not take medication around half indicated that they have never been on medication for HSP with the others having previously been prescribed at least one medication, but no longer take any either because of side effects, because the medication was not effective or a combination of both. Medication is most commonly taken for Spasticity, Pain, Bladder, Spasms, Depression and Nerve Pain. Respondents indicated their medications, their perceptions of the benefits and any side effects.

Almost half of the medication being taken is used to treat spasticity and spasms. The biggest proportion of this group of medications comprises people taking Baclofen (half of people). Other spasticity/spasm medications, with at least 5 respondents taking are: Botulinum toxin A / Botox / OnabotulinumtoxinA, Diazepam and Tizanidine / Zanaflex. One third of all medication being taken is for pain, ranging from over-the-counter medicines like paracetamol through to strong opioid medication like morphine.
There is little published research to support the use of many of the medications used for treatment of HSP.

2013: Mobility, Symptoms, Resources and Mis-diagnoses

An analysis was undertaken between respondents’ mobility levels and the number of other symptoms they have from the list: bladder problems, bowel problems, back pain, fatigue, stress, depression, clonus, pes cavus, numbness, stiffness when it is cold, loss of vibration sensitivity in legs, hammer toes, loss of balance.

  • Those who can walk unaided tend to have 4-5 minor symptoms, up to three moderate symptoms and no major symptoms. All respondents in this group had at least three symptoms, at least two of which were minor.
  • Those who use mobility aids some of the time tend to have 4-5 minor symptoms, up to three moderate symptoms and up to one major symptom. All of the respondents in this group had at least five symptoms, at least one of which was minor.
  • Those who use mobility aids all or most of the time tend to have 2-5 minor symptoms, up to 5 moderate symptoms and up to 5 major symptoms. All of the respondents in this group had at least 7 symptoms.

One fifth of respondents indicated that they had been correctly diagnosed with HSP the first time. The most frequent misdiagnoses were; Multiple Sclerosis, Cerebral Palsy, Arthritis and Charcot-Marie-Tooth disease.
Full analysis: https://drive.google.com/file/d/0BzEoTkR5HCWhTlFsY3k0Y1IzWlE/view

Note from June 2016 - when preparing the poster I had a look at the data for the number of symptoms for the different levels of mobility, and there are slightly different numbers shown on the poster.

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