ArticleEuropean journal of human genetics : EJHG2009
Long-term outcome of presymptomatic testing in Huntington disease.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.
- The psychological impact of predictive genetic testing for Huntington's disease: a systematic review of the literature.Journal of genetic counseling · 2015Pooled it
- Trial
- A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.European journal of neurology · 2026Article
- Living with Risk, Aging with Uncertainty: A Narrative Review of Health and Genetic Vulnerability in Huntington's Disease.Biomedicines · 2025Review
- Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).European journal of human genetics : EJHG · 2024Article
- A pilot evaluation of an 8-week mindfulness-based stress reduction program for people with pre-symptomatic Huntington's disease.Journal of community genetics · 2023Article
- The Emerging Landscape of Natural Small-molecule Therapeutics for Huntington's Disease.Current neuropharmacology · 2023Review
- The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington's Disease from China: A Cross-Sectional Study.Journal of clinical medicine · 2022Article
- How do non-geneticist physicians deal with genetic tests? A qualitative analysis.European journal of human genetics : EJHG · 2022Article
- Psychiatric and Psychosocial Characteristics of a Cohort of Spanish Individuals Attending Genetic Counseling Due to Risk for Genetically Conditioned Dementia.Journal of Alzheimer's disease reports · 2022Article
- Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.Neurology. Genetics · 2021Article
- Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.Journal of genetic counseling · 2020Article
- Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.Cold Spring Harbor perspectives in medicine · 2020Review
- Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.Journal of clinical medicine · 2020Article
- Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.European journal of human genetics : EJHG · 2019Article
- Public Willingness to Undergo Presymptomatic Genetic Testing for Alzheimer's Disease.Neurology research international · 2019Article
- Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.Frontiers in genetics · 2019Article
- What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington's Disease.Journal of genetic counseling · 2018Article
- Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease.Journal of genetic counseling · 2018Article
- Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.Case reports in psychiatry · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological determinants to improve care/support of testees. We performed a cross-sectional study of 351 persons who underwent presymptomatic testing. Those who had motor signs were excluded from the comparison of asymptomatic carrier and non-carriers. A structured interview including five self-report scales and the MINI (Mini International Neuropsychiatric Inventory) was proposed to detect a psychopathology or problem with social adjustment.We interviewed 119 testees (53%), 62 non-carriers and 57 carriers after a mean delay of 3.7 years (range: 0.32 to 8.9) after their result. Depression was frequent in asymptomatic carriers (58%). Interestingly, the self reported impact of the test showed that 27% of non-carriers did not cope well with a favourable result, and a significant percentage of non-carriers (24%) were depressed during follow-up. Multivariate analysis showed that only a previous episode of depression was predictive of depression after genetic testing in both carriers and non-carriers of the HD mutation (P<0.0001).Psychological support is necessary for all testees regardless of the result of their presymptomatic test, because psychiatric care is often needed by both carriers and non-carriers.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.