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Juvenile Huntington’s Disease Forum concerning all aspects of JHD

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Old 27-10-17, 06:56 PM   #1
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Allan's Avatar
Join Date: Sep 2012
Location: Hastings, East Sussex, UK
Posts: 1,155
Default Pain, Itching, Sleeping difficulties, Psychosis and Tics

I find it remarkable that there have been no postings in this JHD category since February of this year. I realise that the youngsters themselves are getting on with their lives and probably interacting on HDYO.

Here’s a current study relating, apparently, to common but unrecognized JHD symptoms:

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington’s disease

They only looked at pain, itching, sleeping difficulties, psychosis and tics.

Disrupted sleep was the most prevalent symptom (87%) followed by
Tics - brief, repetitive, spasm-like movements or vocalizations such as grunts, coughs, or sniffs (78%)
Pain (69%)
Itching (60%) and
Psychosis - hallucinations or delusions (39%).

It states that 42 surveys were completed but several were excluded because the age of diagnosis was beyond 21 years of age (n = 4) or there was no CAG repeat given to confirm their diagnosis (n = 5). So, there were 33 JHD individuals, 18 male and 15 female.

That, to me, seems to indicate a somewhat lackadaisical approach to a published study - that 9 youngsters were outside the scope of JHD definition. That then leaves a very small number to eventually make such a definite pronouncement about JHD symptoms - although everyone in a JHD family may agree with their findings.

They do admit to several limitations impacting on their study:

1st: the definition of JHD as diagnosed before 21 years old may under-represent individuals whose symptoms began in their late teen years but were diagnosed after the age of 21, as diagnosis may be delayed.

2nd: the prevalence of symptoms in the JHD population was not compared with normative data. For instance, sleep disturbance has been quantified as 12% of school-aged children (aged 11–15 years) [22], and 37% of 4–6 year olds have been reported to have recurrent leg pain often described as ‘growing pains’.

3rd:Caregivers may have had difficulty recognizing some of the symptoms, particularly in distinguishing tics from other motor abnormalities, or pain from non-dermatologic itching.

4th: limitations specific to the use of surveys. A survey-based study does not include direct examination of the patient, which may have aided in confirmation of the JHD diagnosis and symptomatology.

5th: surveys rely upon self-selection for participation, and the group that chose to complete the survey may over-represent the frequency of symptoms.

6th: a small sample size of 33 individuals may be inadequate to represent the broader population suffering from the disease.

Then they try to dig themselves out of a hole: “Nevertheless, in the context of an ultra-rare disease, this sample size is comparably large.”

There is, however, a valid result from this study in that: “Simply providing awareness of these symptoms to the medical community can help to improve clinical assessments by inquiring about these symptoms as many Caregivers may also tend to discount certain symptoms such as itching to something other than JHD.”

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