ArticleJournal of community genetics2025
Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.
Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
To study attitudes among parents of probands with rare pediatric-onset neurological and neurodevelopmental disorders on Clinical Genetic Testing (CGT). We administered an 8-item direct structured questionnaire comprising statements regarding attitudes on CGT to 101 consenting parents of probands enrolled in the University College London (UCL) Central Asia and Transcaucasia Disease Diversity Project. The probands comprised pediatric-onset diseases that included cerebral palsy, epilepsy, severe physical, language, and intellectual developmental delays, and autism spectrum symptoms in children with rare neurological disorders. We studied correlations between parents' opinions and demographic and clinical characteristics. The majority of parents (82.1-91.9%) agreed on statements reflecting the positive effects of CGT (causal explanation, research support, treatment relevance, recurrence prevention, and family planning). The opinions on the negative effects (discrimination, parental concern, and family conflicts) were less uniform. A higher educational level of parents was negatively correlated with agreement on statements about causal explanation, research support, and family planning (p < 0.05). Individual concurrent symptoms (severe language delay, epilepsy, autism, and microcephaly) correlated with several statements (p < 0.05). Parents showed positive attitudes toward clinical genetic testing. Parents' educational level was the most significant factor influencing their opinions. The spectrum and severity of clinical symptoms may shape the attitudes of the parents toward individual aspects of CGT.
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