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Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

Publication ,  Journal Article
McConkie-Rosell, A; Spiridigliozzi, GA; Sullivan, JA; Dawson, DV; Lachiewicz, AM
Published in: Am J Med Genet
January 1, 2001

This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X mutation. It addresses 1) how upsetting the women perceived their carrier information to be, 2) how serious a problem they perceive fragile X syndrome to be, and 3) descriptions of feelings about the carrier testing process. The study sample consisted of 42 women (20 carriers and 22 noncarriers). There were two measurement times (just prior to carrier testing and after learning actual carrier status). The measures used were a Fragile X Visual Analog Scale and a structured interview. At time 1, being at-risk was reported to be upsetting and fragile X syndrome was perceived to be a serious problem. For the women found to be carriers there was no change from time 1 to time 2 on any of the items. Significant change occurred in the non-carriers. They were significantly less upset at time 2 after receiving the results of their carrier test than at time 1. They also perceived fragile X syndrome to be a more serious problem than they did at time 1 and a more serious problem than the carriers at time 2. Themes found included concerns that carrier status for fragile X syndrome presented a barrier for having healthy biological children and concern for children's and grandchildren's adaptation to their own carrier status. Coping behaviors were activated to manage the emotions related to these concerns. The coping behaviors identified were minimization, acceptance of the possibility of being a carrier, a sense of being able to deal with the outcome of the carrier test, positive comparison, problem solving, and positive interpretation.

Duke Scholars

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

January 1, 2001

Volume

98

Issue

1

Start / End Page

37 / 45

Location

United States

Related Subject Headings

  • Pain Measurement
  • Middle Aged
  • Longitudinal Studies
  • Interview, Psychological
  • Humans
  • Heterozygote
  • Genetic Testing
  • Fragile X Syndrome
  • Female
  • Aged
 

Citation

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McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2001). Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. Am J Med Genet, 98(1), 37–45.
McConkie-Rosell, A., G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz. “Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.Am J Med Genet 98, no. 1 (January 1, 2001): 37–45.
McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. Am J Med Genet. 2001 Jan 1;98(1):37–45.
McConkie-Rosell, A., et al. “Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.Am J Med Genet, vol. 98, no. 1, Jan. 2001, pp. 37–45.
McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. Am J Med Genet. 2001 Jan 1;98(1):37–45.

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

January 1, 2001

Volume

98

Issue

1

Start / End Page

37 / 45

Location

United States

Related Subject Headings

  • Pain Measurement
  • Middle Aged
  • Longitudinal Studies
  • Interview, Psychological
  • Humans
  • Heterozygote
  • Genetic Testing
  • Fragile X Syndrome
  • Female
  • Aged