Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents’ Experiences

Cristina García-Bravo, Domingo Palacios-Ceña (), Sara García-Bravo, Jorge Pérez-Corrales, Marta Pérez- de-Heredia-Torres and Rosa Mª Martínez-Piédrola
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Cristina García-Bravo: Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain
Domingo Palacios-Ceña: Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain
Sara García-Bravo: Physiocare Madrid, Physiotherapy Clinic, 28026 Madrid, Spain
Jorge Pérez-Corrales: Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain
Marta Pérez- de-Heredia-Torres: Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain
Rosa Mª Martínez-Piédrola: Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, 28922 Alcorcón, Spain

IJERPH, 2022, vol. 19, issue 17, 1-12

Abstract: (1) Background: Phelan-McDermid Syndrome (PMS) in children causes significant challenges affecting social and family relationships. The purpose of this study was to explore the experience of parents with children diagnosed with PMS regarding interactions with their social environment; (2) Methods: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents of children with PMS were included. In-depth interviews and researchers’ field notes were used to collect the data. An inductive thematic analysis was performed; (3) Results: Five themes were identified: (a) challenges in the relationship as a couple; (b) challenges within the family and close social relationships; (c) challenges in the educational-school environment; (d) challenges in the health environment and with health professionals, and (e) reconnection through the PMS association. It would be beneficial for parents to create training programs on PMS in the educational and healthcare settings, to promote the participation of professionals in the PMS association and to develop care programs focusing in their physical, psychological and social health.

Keywords: Phelan-McDermid Syndrome; rare diseases; parents; qualitative research; social environment; social support (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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