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Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews

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Abstract

To describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, their daily management and impact on family life. A qualitative descriptive study was conducted. The study included parents of children diagnosed with PMS by a medical specialist. Purposive sampling was used, and data were collected via in-depth interviews. A thematic analysis was performed on the data. This study was conducted according to the Standards for Reporting Qualitative Research. Thirty-two parents were recruited. Four themes were identified: (a) the first epileptic seizure, where the first seizure appears abruptly and unexpectedly; (b) living with seizures, seizures generate high concern about the evolution of the disease and the future of children with PMS; (c) treatment of epileptic seizures, obtaining an adequate treatment is a long process that involves decision making by parents; (d) the impact of epilepsy on the family, where there is a change in the functioning and relationships among family members.

 Conclusions: It is necessary to develop programs where parents can discuss treatment decisions with professionals and provide coping strategies for the management of epilepsy and seizures.

What is Known:

• Children with Phelan-McDermid syndrome may develop epilepsy. Parents receive insufficient information for the management and control of seizures.

• Parents describe concerns about the evolution of epilepsy in their children’s adulthood, along with the impact of seizures and/or convulsions on their children.

What is New:

• Epilepsy and seizures force the entire family to adapt their lifestyle and give up activities that can trigger seizures.

• Parents pointed out the need to create programs to inform about the benefits and disadvantages of pharmacological treatments in order to improve decision making.

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Data availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

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Acknowledgements

We thank the parents for their kind collaboration and participation in this research study, and also the Asociación Síndrome Phelan McDermid (https://22q13.org.es/) for their work and support.

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Authors and Affiliations

  1. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI) and Research Group of Humanities and Qualitative Research in Health Science (Hum&QRinHS), 28922, Alcorcón, Spain

    Cristina García-Bravo

  2. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability (TO+IDI), Universidad Rey Juan Carlos, Avenida de Atenas S/N, 28922, Alcorcón, Spain

    Rosa Mª Martínez-Piédrola, Mª Pilar Rodríguez-Pérez & Gemma Fernández-Gómez

  3. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain, Physiocare Madrid, Physiotherapy Clinic, 28026, Madrid, Spain

    Sara García-Bravo

  4. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Universidad Rey Juan Carlos (Hum&QRinHS), 28922, Alcorcón, Spain

    Ana San Martín-Gómez & Domingo Palacios-Ceña

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Contributions

Authors CGB, RMMP, and DPC have given substantial contributions to the conception or the design of the manuscript, author SGB, MPRP, ASMG and CGB have contributed to the acquisition, analysis, and interpretation of the data. All authors have participated in the drafting of the manuscript, authors CGB, RMMP, and DPC revised it critically. All authors read and approved the final version of the manuscript.

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Correspondence to Rosa Mª Martínez-Piédrola.

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Communicated by Peter de Winter

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García-Bravo, C., Martínez-Piédrola, R.M., García-Bravo, S. et al. Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews. Eur J Pediatr 183, 253–262 (2024). https://doi.org/10.1007/s00431-023-05285-6

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