Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases

Susana Lêdo, Ana Ramires, Ângela Leite, Maria Alzira Pimenta Dinis, Jorge Sequeiros
  • European Journal of Medical Genetics, March 2018, Elsevier
  • DOI: 10.1016/j.ejmg.2018.03.010

Long-term predictors for psychological outcome of pre-symptomatic testing for LONDs

What is it about?

This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met). We analysed 196 clinical records of persons who performed PST at least three years ago and answered to the two stages of evaluation (before PST and least 3 years after disclosure of results). For this purpose, regression analysis was performed, showing that the Positive Symptom Distress Index (PSDI), psychoticism, somatization and paranoid ideation dimensions assume predictive value in the middle and long-term impact for total anxiety and PSDI.

Why is it important?

The result of PST was not a relevant predictor. Application of an evaluation instrument of various psychopathological dimensions played a fundamental role in the detection of clinical situations that may arise several years later after PST. Attention should be paid to providing psychological support to persons at-risk who, at the pre-test phase, present some psychopathology indices before pursuing with genetic testing.

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The following have contributed to this page: Professor Maria Alzira Pimenta Dinis and Jorge Sequeiros