Thursday, 27 February 2014

2013 HSP Survey Results

So, it is rare disease day again (Well, as i write, it is in India....). I am pleased to publish the results of the HSP survey which I launched in September. Many thanks are due to the 121 people who gave their time and completed the survey - this wouldnt have been possible without you.

The full set of analysis can be found here: 
https://drive.google.com/file/d/0BzEoTkR5HCWhTlFsY3k0Y1IzWlE/view?usp=share_link&resourcekey=0-43aaHBAVgWE0JxllK6FFOg

Here is a short version of the 2013 survey results....

This is a summary of the results of a survey which I launched in September 2013. There were 121 respondents who completed the survey, predominantly from the USA and the UK, but also Europe, Canada, Australia, India and South Africa.

Mobility Analysis

Answers were given by 116 respondents. Just over half of respondents use walking sticks/poles/crutches/canes and around a third of respondents use a wheelchair or mobility scooter. FES is the mobility aid used by the least number of people, with a take-up of around 5%.

Mobility Aids Used - Summary:
Respondents
Percentage
Using sticks/poles/crutches/canes
62
53%
Using Wheelchair/Mobility Scooter
40
34%
Using Orthotics/AFO
33
28%
Using Walking Frame/Rollator
31
27%
Using FES
7
6%

In the remainder of this paper whenever “sticks” are referred to as a mobility aid this term includes poles, crutches and canes. Whenever “frames” are referred to this includes both walking frames and rollators. Whenever “chairs” are referred to this includes both wheelchairs and mobility scooters. Whenever AFO is mentioned it refers to Orthotics and AFO.

The results also allow the distribution of respondents within a scale of mobility. I have devised an “HSP mobility score” which then allows me to cross-reference mobility against the other questions in the questionnaire. The definition of the HSP mobility score is;
  1. Can walk without aids but some effects
  2. Orthotics/AFO/FES and/or Sticks/Poles/Crutches/Canes some of the time
  3. Sticks/Poles/Crutches/Canes and Frame/Chair some of the time
  4. Sticks/Poles/Crutches/Canes most of the time
  5. Sticks/Poles/Crutches/Canes all of the time
  6. Rollator/Walking frame most of the time
  7. Rollator/Walking frame all of the time
  8. Wheelchair/Mobility scooter most of the time
  9. Wheelchair/Mobility scooter all of the time

Change in Mobility

One question asked people to describe how their mobility had changed over the last five years. I interpreted these results such that anyone who was either developing their first symptoms or gaining an increase in mobility score by up to around 2 was described as having a “low” change in mobility. Those who gained an increase in mobility score of around 3-4 would have a “medium” change in mobility, and those with an increase greater than around 4 would have a “high” change in mobility. 81 respondents provided enough information for me to attempt an interpretation, as shown in the following table.

5 Year Change in Mobility
Respondents
Percentage
Low
62
77%
Medium
17
21%
High
2
2%

This shows that generally changes in mobility are quite slow, with the majority (three quarters) of respondents having a low change over 5 years. There are a small number of patients, probably less than 5%, who will experience significant changes in mobility over a five year period.

Symptoms Analysis

I found 13 symptoms which occur often in descriptions of HSP and asked respondents if these symptoms were an issue for them or not. For each symptom respondents selected the most appropriate from a list of choices, which I have grouped into severity bands;
Severity
Severity Band
Do not have
-
Occasional symptom
Minor
Minor symptom
Minor
Frequent symptom
Significant, Moderate
Regular symptom
Significant, Moderate
Most of the time
Significant, Major
All of the time
Significant, Major

The following table shows the percentage of respondents with each of the symptoms, ordered by frequency – the most frequently occurring severe symptoms at the top.

Symptom
Do not have
Minor
Significant
Loss of balance
4
26
70
More stiff in the cold
4
29
67
Fatigue
8
30
62
Bladder problems
18
39
43
Stress
19
42
39
Back pain
22
42
36
Clonus (jumping feet)
30
37
34
Numbness
31
36
33
Depression
34
34
32
Bowel problems
39
36
25
Loss of vibration sensitivity in legs
39
37
24
Pes cavus
48
15
38
Hammer toes
53
18
28

This shows that the two symptoms which affect people the most are loss of balance and getting more stiff when it is cold, which is a significant issue for 70% of respondents, and an issue for more than 95% of respondents. Fatigue affects more than 90% of respondents and is a significant issue for more than 60%.

Bladder problems, stress and back pain affect around 80% of respondents, significantly in about half of those. Clonus, numbness and depression affect around 70% of respondents, and show a similar pattern where half of those affected are significantly so.

Bowel problems and loss of vibration sensitivity affect around 60% of respondents. These symptoms appear to be significant for a smaller proportion of respondents. Pes cavus and hammer toes affect the smallest proportion of respondents, around 50%, and these symptoms appear to be significant for a greater proportion of respondents.

Symptoms - Analysis of Symptoms against Mobility

For a more detailed analysis I grouped the respondents into groups according to mobility;

Number of Symptoms – walking unaided

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.

Minor symptoms are likely to include Loss of Balance, Stiffness in the Cold and Fatigue, and may include Bladder problems, Stress, Back Pain, Clonus, Numbness or Bowel problems. Moderate or major problems may include Stiffness in the Cold, Fatigue, Stress, Back Pain, Clonus or Numbness.

Number of Symptoms – use aids some of the time

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.

Minor symptoms are likely to include Loss of Balance, Stiffness in the Cold and Fatigue, and may include Bladder problems, Stress, Back Pain, Clonus, Numbness or Bowel problems. Moderate or major problems may include Stiffness in the Cold, Fatigue, Stress, Back Pain, Clonus or Numbness.

Number of Symptoms – using mobility aids all or most of the time

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.

Minor symptoms may include Bladder problems, Stress, Back Pain, Clonus, Numbness, Depression, Bowel Problems and loss of vibration sensitivity in the legs. Moderate or major problems may include Loss of Balance, Stiffness in the Cold, Bladder problems, Stress, Depression, Bowel Problems, Pes Cavus or Hammer Toes.

Mis-diagnoses

One question asked people what they had been diagnosed with before getting their HSP diagnosis. 100 respondents answered this question. 20 respondents indicated that they had been correctly diagnosed with HSP the first time.

The 80 respondents who had been mis-diagnosed gave in total 126 different misdiagnoses. Some respondents listed just one misdiagnosis, whereas others listed a great many. In total there were 59 different conditions listed. Twelve of these were given at least three times accounting for nearly 60% of mis-diagnoses, as shown in the following table;

Mis-diagnosis
Number of diagnoses
Multiple Sclerosis (MS)
19
Cerebral Palsy
12
Arthritis
6
Charcot-Marie-Tooth disease (CMT)
6
Neuropathy
5
Ataxia
4
Motor Neurone disease - Primary Lateral Sclerosis (PLS)
4
Cerebral Palsy - Spastic Diplegia
4
Muscular Dystrophy (MD)
3
Motor Neurone disease - Amyotrophic Lateral Sclerosis (ALS)
3
Peripheral Neuropathy
3
Spinocerebellar Ataxia
3

Like this? in other years:
Overview of all my surveys: http://hspjourney.blogspot.co.uk/p/my-on-line-resarch.html
2016: Fatigue, bladder, bowel & information: http://hspjourney.blogspot.co.uk/2017/02/2016-survey-results.html
2015: Modifications at home, depression, quality of life: http://hspjourney.blogspot.co.uk/2016/02/2015-survey-results.html
2014: Medication, exercise & relaxation: http://hspjourney.blogspot.co.uk/2015/02/2014-survey-results.html

Monday, 10 February 2014

New large HSP research study reported

A new study about HSP has just been reported. The study took about 10 years to complete, and has examined the genes of about 100 HSP patients, focussing on countries where HSP is found but genetic studies are rare. This includes Egypt, Pakistan and Iran. Part of the study identified 18 new genes for HSP.

But, with all this data they were able to look at the wider picture, and made links between HSP and other more common neurodegenerative disorders, such as Alzheimer’s disease, Parkinson's and amyotrophic lateral sclerosis (ALS).This suggests that these conditions may have some common ground, and that drugs which target these overlapping genes could help to treat more than one disease. 

They were able to create a plausible network of proteins involved in this disease. Of the 18 new genes, 15 were identified from the genetic tests but 3 were from looking at this network. They call the network the "HSPome". Here's an extract;



This work has identified several promising targets for development of new treatments.

Readers should note that I have not seen the article, and my notes are based on what others have said about it.

Links to various reports on the study;
http://phenomena.nationalgeographic.com/2014/01/30/now-this-is-how-you-find-disease-genes/
http://sciencedigg.blogspot.co.uk/2014/02/a-unified-process-for-neurological.html
http://www.newswise.com/articles/scientists-discover-new-genetic-forms-of-neurodegeneration
http://spatax.wordpress.com/2disease, P09/contribution-of-the-spatax-network-to-the-identification-of-18-new-causative-genes/

And, a link to the article itself;
http://m.sciencemag.org/content/343/6170/506
http://dx.doi.org/10.1126/science.1247363

Reference: Novarino, Fenstermaker, Zaki  Hofree, Silhavy, Heiberg, Abdellateef, Rosti, Scott, Mansour, Masri, Kayserili, Al-Aama, Abdel-Salam, Karminejad, Kara, Kara, Bozorgmehri, Ben-Omran, Mojahedi, Gamal El Din Mahmoud, Bouslam, Bouhouche, Benomar, Hanein, Raymond, Forlani, Mascaro, Selim, Shehata, Al-Allawi, Bindu, Azam, Gunel, Caglayan, Bilguvar, Tolun, Issa, Schroth, Spencer, Rosti, Akizu, Vaux, Johansen, Koh, Megahed, Durr, Brice, Stevanin, Gabriel, Ideker, and Gleeson. 2013. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science.