Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study.

Abstract

Aim: To explore the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) with regard to the diagnostic process, treatment, and medical care.

Method: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents with children with PMS were included. In-depth interviews and researcher field notes were used. An inductive thematic analysis was performed.

Results: Five themes were identified: (1) the 'diagnostic process' describes the diagnostic process and how it is communicated to the parents; (2) 'treatment and expectations' describes the expectations and hopes placed on future treatment; (3) 'family planning' describes how parents deal with genetic counselling when planning to have more children after a diagnosis of PMS; (4) 'the world of disability' describes the entry of parents into an environment of dependency and disability after the diagnosis; (5) 'family's financial situation' highlights the financial difficulties due to the high cost of therapies and daily care products.

Interpretation: Our results provide insight on how a diagnosis of PMS and its consequences are experienced by parents of children with PMS. These results can be used by health professionals to help and support parents.