scholarly journals A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

2019 ◽  
Vol 27 (8) ◽  
pp. 1215-1224
Author(s):  
Felicity Wadrup ◽  
◽  
Simon Holden ◽  
Rhona MacLeod ◽  
Zosia Miedzybrodzka ◽  
...  
2015 ◽  
Vol 22 (4) ◽  
pp. 426-435 ◽  
Author(s):  
Nelleke C. van Wouwe ◽  
Kristen E. Kanoff ◽  
Daniel O. Claassen ◽  
K. Richard Ridderinkhof ◽  
Peter Hedera ◽  
...  

AbstractObjectives: Huntington’s disease (HD) is a neurodegenerative disorder that produces a bias toward risky, reward-driven decisions in situations where the outcomes of decisions are uncertain and must be discovered. However, it is unclear whether HD patients show similar biases in decision-making when learning demands are minimized and prospective risks and outcomes are known explicitly. We investigated how risk decision-making strategies and adjustments are altered in HD patients when reward contingencies are explicit. Methods: HD (N=18) and healthy control (HC; N=17) participants completed a risk-taking task in which they made a series of independent choices between a low-risk/low reward and high-risk/high reward risk options. Results: Computational modeling showed that compared to HC, who showed a clear preference for low-risk compared to high-risk decisions, the HD group valued high-risks more than low-risk decisions, especially when high-risks were rewarded. The strategy analysis indicated that when high-risk options were rewarded, HC adopted a conservative risk strategy on the next trial by preferring the low-risk option (i.e., they counted their blessings and then played the surer bet). In contrast, following a rewarded high-risk choice, HD patients showed a clear preference for repeating the high-risk choice. Conclusions: These results indicate a pattern of high-risk/high-reward decision bias in HD that persists when outcomes and risks are certain. The allure of high-risk/high-reward decisions in situations of risk certainty and uncertainty expands our insight into the dynamic decision-making deficits that create considerable clinical burden in HD. (JINS, 2016, 22, 426–435)


PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 630-632
Author(s):  
Louis S. Pearlstein ◽  
Charles B. Brill ◽  
Elliott L. Mancall

A case of child abuse occurring in a family in which the mother had Huntington's disease is presented. Families affected by Huntington's disease are at high risk in this regard. The literature and family dynamics are reviewed.


2018 ◽  
Vol 8 (3) ◽  
pp. 371.2-371
Author(s):  
S McIlfatrick ◽  
DHL Muldrew ◽  
E Carduff ◽  
M Clarke ◽  
J Coast ◽  
...  

BackgroundConstipation is a common symptom for patients receiving palliative care. Whilst national clinical guidelines are available on the management of constipation for people with advanced cancer in specialist palliative care (SPC) settings questions exist around clinical practice and the extent to which the guidelines are implemented in practice. This study examine current clinical practice for management of constipation for patients with advanced cancer in SPC settings.MethodsA multi-site retrospective case-note review was conducted consisting of 150 patient case-notes from three SPC units across the United Kingdom between August 2016 and May 2017. Descriptive statistics were used to compare clinical practices to national policy guidelines for constipation.ResultsA physical exam and bowel history was recorded for 109 patients (73%). Whilst the Bristol Stool Chart was used frequently across sites (96%) involvement of the multidisciplinary team varied. Almost a third of patient charts (27%) recorded no evidence of non-pharmacological management strategies. Pharmacological management was recorded frequently with sodium docusate or senna as the preferred laxatives across all sites however 33% of patient charts recorded no information on the titration of laxatives. There were no consistent management strategies recorded for opioid induced constipation or bowel obstructionConclusionAssessment and management of constipation in SPC settings is highly variable. Variations in assessment; limited use of non-pharmacological and preventative strategies and absence of consistent strategies for opioid induced constipation or bowel obstruction are evident. Further education is needed to equip HCPs with the necessary knowledge and skills to assess and manage constipation.References. Friedrichsen M, Erichsen E. The lived experience of constipation in cancer patients in palliative hospital-based home care. Int J Palliat Nurs [Internet] 2004;10(7):321–5. Available from: http://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl?=13576321&A?N=13991056&h=XKMF4r08srZuhDY0j7C95oLLyYKNHUcvoeEuhyXNnsIM2BI%2BEhmcY1pPP%2BN1pvrMzQ9Bn9b5j45X6WzyBRydEA%3D%3D&crl=c [Accessed: 21 August 2017]. Gilbert EH, et al. Chart reviews in emergency medicine research: Where are the methods?Annals of Emergency Medicine1996;27(3):305–8. Available at: http://www.ncbi.nlm.nih.gov/pubmed/8599488 [Accessed: 17 May 2018]. National Clinical Effectiveness Committee. Management of constipation in adult patients receiving palliative care national clinical guideline No. 10November 2015.. Tvistholm N, Munch L, Danielsen AK. Constipation is casting a shadow over everyday life? A systematic review on older people’s experience of living with constipation [Internet]. Journal of Clinical Nursing2017;26:902–14. Available from: http://doi.wiley.com/10.1111/jocn.13422 [Accessed: 21 August 2017]. Wickson-griffiths A, et al.Revisiting retrospective chart review: An evaluation of nursing home palliative and end-of-life care research. Palliative Medicine Care2014;1(2):8. Available at: www.symbiosisonlinepublishing.com [Accessed: 23 November 2017]


1989 ◽  
Vol 13 (8) ◽  
pp. 409-411 ◽  
Author(s):  
Brian O'Shea

Huntington's disease is associated with a considerable psychiatric morbidity and mortality. These risks are not confined to the sufferer. The relations of victims, both biological and legal, are also at high risk for significant psychosocial dysfunction (O'Shea & Falvey, 1988). Despite recent advances in genetic research, there is still no cure for this chronic choreodementia syndrome. Medical management is confined to palliation of symptoms. The doctor and the patient's family, in the face of this unpleasant disease, are wont to exercise a variety of psychological defences which may hinder the delivery and receipt of adequate support (Martindale, 1987).


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