Choice making in Rett syndrome: a descriptive study using video data

Abstract

Purpose: To describe the choice-making abilities of girls and women with Rett syndrome.

Method: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3–35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome.

Results: The majority (82.8%, 53/64) of females made a choice, most using eye gaze. Just under half (24/53) used one modality to communicate their choice, 52.8% used two modalities and one used three modalities. Of those who made a choice, 50% did so within 8 s. The length of time to make a choice did not appear to vary with age. During choice making, 57.8% (37/64) of communication partners used language and gestures, 39.1% (25/64) used only language and two used language, gestures and symbols within the interaction.

Conclusions: The provision of adequate time allowing for a response and observation for the use of multiple modalities could promote effective choice making in females with Rett syndrome.

Implications for Rehabilitation

• The provision of adequate time allowing for a response will promote effective choice making in girls and women with Rett syndrome.

• Although almost all girls and women with Rett syndrome used eye gaze to indicate their choice, communication partners also need to recognise and respond to other communication modalities that are sometimes used like body movements.

Keywords:

• Eye gaze
• communication
• MECP2

Acknowledgements

We gratefully acknowledge the contribution of all the families participating in the Australian Rett Syndrome Database and thank them for their continued contribution to the study of Rett syndrome in Australia. We thank the Australian Paediatric Surveillance Unit and the Rett Syndrome Association of Australia who continue to facilitate case ascertainment. The Australian Paediatric Surveillance Unit is a unit of the Division of Paediatrics, Royal Australasian College of Physicians, and is funded by the Department of Health and Ageing and the National Health Medical Research Council (NHMRC).

Disclosure statement

The authors report no declarations of interest.

Additional information

Funding

We would like to acknowledge specific funding support; the Australian Postgraduate Award, the Stan and Jean Perron Scholarship, the National Institutes of Health and NHMRC. The Australian Rett syndrome research program has previously been funded by the National Institutes of Health [(5R01HD043100?05]) and NHMRC project [grants Nos. #303189, and #1004384] and an NHMRC program [grant No. #572742]. Professor Helen Leonard?s funding (2009?2014) was from an NHMRC Senior Research Fellowship [#572568].