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“You Have to Sit and Explain it All, and Explain Yourself.” Mothers’ Experiences of Support Services for Their Offspring with a Rare Genetic Intellectual Disability Syndrome

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

The experiences of mothers of adult offspring with Angelman, Cornelia de Lange, or Cri du Chat syndrome have not been previously explored in research. The current study focuses on experiences with social and medical services and the impact the rareness of an adult offspring’s syndrome has on the experiences of mothers. Eight mothers of adults with Angelman, Cornelia de Lange, or Cri du Chat syndrome were interviewed. Thematic Content Analysis was used to interpret the interviews. Four themes emerged from the analysis: (i) The rarity of their offspring’s syndrome, (ii) Uneven medical and social care service provision, (iii) The inertia of social care services, and (iv) Mothers as advocates. Mothers felt that the rareness of their offspring’s syndrome did not affect experiences with social care services, but did affect access to medical services and some aspects of day-to-day living. Accessing appropriate social care services was reported to be a lengthy and complex process. These data may help inform care service providers about how best to support adults with rare genetic syndromes and their families.

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Notes

  1. When providing extracts from the interviews the following conventions are used:

    • … Short pause

    • [text] Explanatory information provided by author

    • (…) Words omitted to shorten quote

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Acknowledgements

This research has been funded by the Big Lottery Fund. The study was submitted to and approved by the ethics committee at Bangor University.

Disclosure of Interest

There is no actual or potential conflict of interest. The authors have full control of all primary data and agree to allow the journal to review their data if requested.

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Authors and Affiliations

  1. School of Psychology, Bangor University, Brigantia Building, Penrhalt Road, Bangor, LL57 2AS, UK

    Gemma Maria Griffith, Richard P. Hastings, Susie Nash & Michael Petalas

  2. University of Birmingham, Birmingham, UK

    Chris Oliver, Jane Petty & Penelope Tunnicliffe

  3. Institute of Psychiatry, London, UK

    Patricia Howlin & Joanna Moss

Authors
  1. Gemma Maria Griffith
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  2. Richard P. Hastings
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  3. Susie Nash
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Correspondence to Gemma Maria Griffith.

Appendix – Example Interview Questions

Appendix – Example Interview Questions

Experiences with Social Services

  • What kinds of services do you currently receive day-to day? Respite/Day care/College/etc.

  • What do you think about these?

  • Are there any current issues with any of the services?

  • What is good about these services?

  • Do you have any criticisms of these services?

  • Ideally, what kinds of services would you like to have access to and how often?

Specialist Services

  • Has X needed specialist medical care since reaching adulthood?

  • Tell me about it.

  • What were the Doctors/nurses/specialists like?

  • Did you feel involved in the process?

  • Were staff adequately trained to meet X’s and your needs?

Involvement

  • Do you feel you are listened to as a parent by social services?

  • How does this make you feel?

  • Are you as involved as you would like?

  • Do you feel these services valued your input?

Rareness of Syndrome

  • Have you ever encountered any problems due to the rareness of X’s syndrome?

  • What was this?

  • Do you think it would make a difference if more people were aware of X syndrome?

  • In what way?

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Griffith, G.M., Hastings, R.P., Nash, S. et al. “You Have to Sit and Explain it All, and Explain Yourself.” Mothers’ Experiences of Support Services for Their Offspring with a Rare Genetic Intellectual Disability Syndrome. J Genet Counsel 20, 165–177 (2011). https://doi.org/10.1007/s10897-010-9339-4

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  • DOI: https://doi.org/10.1007/s10897-010-9339-4

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