Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al.

Autosomal dominant neurogenetic diseases are characterized by progressive motor and cognitive impairment without curative treatment. They present with variable disease severities and possible transmission to the offspring can be experienced as burdensome. All are accessible to assisted reproductive options. We conducted a survey to assess individual perception of disease severity, opinion on reproductive options and dynamics of intra-familial information. The results show that self-estimated severity differs greatly, although minimally impacting reproductive choices. Assisted reproductive options do not motivate more discussion within families. These results could improve genetic counseling, to get closer to the real needs of patients and their families. (By Lucie Pierron, Marcela Gargiulo and Alexandra Durr, https://jmg.bmj.com/content/early/2022/10/21/jmg-2022-108477 )

From left to right: Ms Elodie Petit, Dr Lucie Pierron, Pr Marcela Gargiulo, Pr Alexandra Durr

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