Early Testing for Huntington Disease in Children: Pros and Cons

Toufexis, Megan; Gieron-Korthals, Maria

doi:10.1177/0883073809343315

Cited by 13 publications

(10 citation statements)

References 6 publications

(8 reference statements)

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“…On the other hand, it is possible, though unlikely based on our findings, that a child with symptoms suggestive of JHD, a positive family history, and a pathologic expansion has in fact an alternative diagnosis. 5,6 With long and careful follow-up, however, the clinician should be able to unequivocally attribute the symptoms to JHD.…”

Section: Resultsmentioning

confidence: 99%

“…3,4 Clinical features of JHD, which often include rigidity, cognitive decline, and behavioral disturbance, are more varied, less specific, and also found in other early-onset neuropsychiatric disorders, suggesting diagnosis may be challenging in the absence of a family history of HD. 3,5 Alternatively, the presence of family history in a child with suggestive symptoms may not necessarily mean they are caused by JHD. 5,6 To date, there are no established rules to guide clinicians contemplating genetic testing in a child with suspected HD.…”

mentioning

confidence: 99%

“…3,5 Alternatively, the presence of family history in a child with suggestive symptoms may not necessarily mean they are caused by JHD. 5,6 To date, there are no established rules to guide clinicians contemplating genetic testing in a child with suspected HD. A single report suggested diagnostic criteria in children at risk of JHD, but these have not been independently assessed.…”

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confidence: 99%

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The challenge of juvenile Huntington disease

2013

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A diagnosis of juvenile HD should be primarily contemplated in symptomatic children with a family history of HD, although a proportion of these will test negative. With no family history of HD, juvenile HD is very unlikely and genetic testing should never delay searching for other causes. The specific nature of symptoms at onset or at presentation is of limited value in guiding the decision to test or not to test.

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Section: Resultsmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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The challenge of juvenile Huntington disease

2013

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“…Pre-symptomatic genetic testing may have occurred in children whose parents are known to carry the disease. However, the appropriateness of testing young children who are unable to consent and for a condition with no cure is debatable [12] .…”

Section: Discussionmentioning

confidence: 99%

Huntington’s Disease: Current Epidemiology and Pharmacological Management in UK Primary Care

et al. 2011

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Background: Recent debate suggests Huntington’s disease (HD) may be more prevalent than previously reported. In addition, relatively little is known about current disease management. This study aims to provide epidemiological data and describe the pharmacological management of HD in the United Kingdom. Methods: A primary care research database was accessed to identify incident and prevalent HD cases between January 1, 2004, and December 31, 2008. Patients with Read codes denoting a definite diagnosis or possible diagnosis, and undiagnosed patients with a positive family history were identified. A subset of patients with a definite diagnosis and prescribed medication indicating symptom onset was also identified. Epidemiological data were estimated. Pharmacological prescriptions to HD patients from 2004 to 2008 were identified, and prescription frequencies were grouped according to the British National Formulary categories. Results: HD incidence estimates ranged from 0.44 to 0.78 per 100,000 person-years, and HD prevalence ranged from 5.96 to 6.54 per 100,000 of the population. Forty-four percent of pharmacological prescriptions targeted the central nervous system. Nearly half of the HD patients were prescribed antidepressants, and over 40% were prescribed analgesics. Conclusions: Although prevalence estimates fell short of figures suggested in recent debate, it is feasible that the true prevalence may be much higher than previously reported. Pharmacological management appears to rely heavily on central nervous system drugs and nutrition support. Many of these drugs are prescribed to HD patients for reasons other than the medication’s primary use. Further work is required to evaluate the impact of alternative management strategies, such as therapist intervention, counselling, and organisation support, on the patients’ quality of life.

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“…Considering the obvious ethical restriction in testing minors 15,16 , a rather limited number of studies have so far reported detailed clinical features of JHD 2,5,7,10,17 . However, epidemiological, demographic and clinical genetic studies of JHD in populations with different ethnic backgrounds may contribute to better understand the variability in the phenotype and frequency 5,9,13,18 .…”

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confidence: 99%

Juvenile Huntington disease in Argentina

Gatto

Parisi

Etcheverry³

et al. 2015

Arq. Neuro-Psiquiatr.

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We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

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Early Testing for Huntington Disease in Children: Pros and Cons

Cited by 13 publications

References 6 publications

The challenge of juvenile Huntington disease

The challenge of juvenile Huntington disease

Huntington’s Disease: Current Epidemiology and Pharmacological Management in UK Primary Care

Juvenile Huntington disease in Argentina

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