Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Abstract

BackgroundPoland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy.ResultsSeventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues.ConclusionsAn analysis of the patients’ experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients’ associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.

Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

“…Other studies highlight the fact that such journeys are associated with a longer time to diagnosis [ 6 , 7 , 8 , 9 ], though it is true to say that this association is not always found [ 21 , 24 , 25 ]. Studies on specific RDs, such as Poland Syndrome, indicate that risk of diagnostic delay increases 3.5-fold in cases where diagnosis is received in a region other than the home region [ 26 ]. These journeys, which are associated with a longer diagnostic delay, arise particularly when the RD is complex and requires specialised referral centres, which are usually concentrated in certain ARs, such as Madrid and Catalonia, among others [ 27 ].…”

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

“…The diagnosis of PS is arrived at in most cases within the first year of life [33]. It is often communicated to parents who are unaware of the presence of the disorder [34].…”

“…Muscle transpositions should be used in selected cases after an accurate evaluation of the pros and cons of the procedure based on the anatomical characteristics (back, shoulder, posture, …) and life habits (sport activity, work activity, hobbies, …) of the patient. Muscle transpositions shouldn't be used in non-adult patients, or even in patients who have not fully completed their psycho-physical development and who have not clearly outlined their social and working life habits [33]. Reconstructive surgery can help especially younger patients (teenagers) to experience the aesthetic stigmata of the disease less traumatically, accompanying them on a path of growth and positive development of their body image.…”

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

“…In this study, the population size is sufficient to describe accurately the current status of TCA in the participating centers. The patient questionnaire return rate of 78% is satisfactory and similar to a telephone call-back study [ 16 ]. The closed questions were developed and tested in a pilot phase, using qualitative questionnaires and interviews with 10 patients or parents who had undergone the transition.…”