The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition.


:There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews with the main caregiver(s) were carried out and were analyzed using the qualitative methodology interpretative phenomenological analysis. The main themes arising from the analysis are reported here: first becoming aware something is wrong; physical symptoms; speech and communication difficulties; behavioral problems; a slow but relentless process. These are discussed in relation to extant literature. We hope the article will be helpful to clinicians working with families where a child is affected by JHD and also contribute to the general literature on understanding symptoms in childhood illness.


Clin Genet


Clinical genetics


Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW




Has Abstract


2006-06-01 00:00:00














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    abstract::The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

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    pub_type: 杂志文章


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    journal_title:Clinical genetics

    pub_type: 杂志文章


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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Mukherjee M,Shetty KR

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    journal_title:Clinical genetics

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    authors: Basel-Vanagaite L,Straussberg R,Friez MJ,Inbar D,Korenreich L,Shohat M,Schwartz CE

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    pub_type: 杂志文章,多中心研究


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    pub_type: 杂志文章,评审


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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    pub_type: 杂志文章


    authors: Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Tsai PC,Tsai YS,Soong BW,Huang YH,Wu HT,Chen YH,Lin KP,Liao YC,Lee YC

    更新日期:2017-08-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


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    更新日期:1994-06-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Berge KE,Berg K

    更新日期:1992-02-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章


    authors: Druce M,Cohen IJ,Naor N,Shohat M

    更新日期:1995-10-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Beyens A,Boel A,Symoens S,Callewaert B

    更新日期:2021-01-01 00:00:00

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    journal_title:Clinical genetics

    pub_type: 杂志文章,评审


    authors: Lawn RM

    更新日期:1996-04-01 00:00:00