Date of Award

2018

Document Type

Open Access Thesis

Department

Genetic Counseling

Sub-Department

School of Medicine

First Advisor

Richard Ferrante

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females. In 99% of cases, RTT is believed to occur sporadically, or de novo. However, in rare cases, RTT can be passed down from parent to child through gonadal mosaicism or asymptomatic carrier mothers. It is known that having a child with an inherited genetic condition can lead to changes in family planning; however, little research has investigated this phenomenon in sporadic genetic conditions, such as RTT. This present study used a questionnaire to assess family planning decisions of parents of children with RTT. Forty-three percent of respondents reported that their family planning changed. The primary reason for reproductive stoppage was due to caregiver strain, and of those that chose reproductive continuation, the primary change was in the age gaps between their children. Parents were also asked to explain what they were told by healthcare providers about the recurrence of RTT and if they received genetic counseling. Seventy-eight percent reported they were told there was a 1% or less chance of recurrence of RTT and 34% received genetic counseling. There was no significant association between those who received genetic counseling and those who altered their family planning decisions.

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