Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families' views on the received health care during the pandemic.

This study explored views of users with muscular dystrophies and their caregivers on staff-user relationships and the treatments provided by a Rehabilitation Centre during the pandemic. Patients and relatives were asked to anonymously complete an open-ended questionnaire exploring their views on these aspects. Fifty-four patients and 40 caregivers gave their informed consent and participated in the survey. Fifty-three patients were adults, 28% suffering from Duchenne/Becker muscular dystrophy. Patients reported 269 comments on health care services provided during the pandemic, 132 (49%) concerning positive aspects and 137 (51%) negative aspects. The prompt restart of the rehabilitation therapies and the staff closeness over the pandemic were the practical aspects most frequently appreciated (46.9%), while closer family contacts and the perception of being able to rely on the Centre's constant support were the most cited psychological aspects (53.1%). Architectural barriers, difficulties in accessing public health services, economic difficulties, and lack of support from welfare and other agencies were the practical critical points most frequently reported (89%). In addition, social isolation, and loneliness due to fear of contagion were the most negative psychological aspects (10.1%). As regard the caregivers' views, participants reported 151 comments. Of these, 86 (56.9%) were positive and 65 (43.1%) were negative. Among the positive aspects, the psychological ones - such as closer family contacts, not feeling abandoned and counting on the constant Centre's professional support prevailed (53.5%). As for the negative aspects, most caregivers (92.6%) believe that the pandemic exacerbated their financial and bureaucratic difficulties, particularly in poorer families.

Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals' views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases.

The outbreak of COVID-19 has forced the health care system to undergo profound rearrangements in services and facilities, especially during the periods of lockdown. In this context, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of severely disabled patients, as those affected by Muscular Dystrophies (MDs). We present the preliminary results of a survey aiming to explore the staff views on the changes in the care provided by the Gaetano Torre Rehabilitation Centre, and, the impact of these changes on professionals, patients and their families. The survey was carried out using an open-ended questionnaire including six-items, on the practical and psychological aspects emerged during the pandemic in relation to the healthcare services provided by the Centre and to the patients/caregivers conditions. The participants, most of them physiotherapists, highlighted 169 aspects emerging in the pandemic, 48.5% referring to the resources used to cope with critical issues and 51.5% concerning the difficulties encountered. Emotional aspects prevailed on practical aspects both in resources (52.4 vs 47.6%) and in difficulties (57.5 vs 42.5%) categories. In particular, with regard to patients' resources, psychological benefits, despite the burden, were greater than practical ones (87 vs 13%), in the form of improved intra-family relationships, feeling more cared for, and satisfaction for the received care. As for the patients' relatives, the staff indicated more resources than difficulties (72.8 vs 17.2%). Among the former, 75% concerned the emotional sphere, such as the perception of having a point of reference even in such a difficult time.

Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients.

Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children. Historically, DMD results in loss of ambulation between ages 7 and 13 years and death in the teens or 20s. In order to determine whether survival has improved over the decades and whether the impact of nocturnal ventilation combined with a better management of cardiac involvement has been able to modify the pattern of survival, we reviewed the notes of 835 DMD patients followed at the Naples Centre of Cardiomyology and Medical Genetics from 1961 to 2006. Patients were divided, by decade of birth, into 3 groups: 1) DMD born between 1961 and 1970; 2) DMD born between 1971 and 1980; 3) DMD born between 1981 and 1990; each group was in turn subdivided into 15 two-year classes, from 14 to 40 years of age. Age and causes of death, type of cardiac treatment and use of a mechanical ventilator were carefully analyzed.The percentage of survivors in the different decades was statistically compared by chi-square test and Kaplan-Meier survival curves analyses. A significant decade on decade improvement in survival rate was observed at both the age of 20, where it passed from 23.3% of patients in group 1 to 54% of patients in group 2 and to 59,8% in patients in group 3 (p < 0.001) and at the age of 25 where the survival rate passed from 13.5% of patients in group 1 to 31.6% of patients in group 2 and to 49.2% in patients in group 3 (p < 0.001).The causes of death were both cardiac and respiratory, with a prevalence of the respiratory ones till 1980s. The overall mean age for cardiac deaths was 19.6 years (range 13.4-27.5), with an increasing age in the last 15 years. The overall mean age for respiratory deaths was 17.7 years (range 11.6-27.5) in patients without a ventilator support while increased to 27.9 years (range 23-38.6) in patients who could benefit of mechanical ventilation.This report documents that DMD should be now considered an adulthood disease as well, and as a consequence more public health interventions are needed to support these patients and their families as they pass from childhood into adult age.

Cardiac involvement in patients with spinal muscular atrophies.

The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset of clinical features: Acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III), and adult onset (SMA type IV) forms. The incidence is about 1:6,000 live births with a carrier frequency of 1:40 for the severe form and 1:80 for the juvenile form. The mortality and/or morbidity rates of SMAs are inversely correlated with the age at onset. SMAs are believed to only affect skeletal muscles; however, new data on SMA mice models suggest they may also impact the heart. Aim of the study was to retrospectively examine the cardiological records of 37 type molecularly confirmed II/III SMA patients, aged 6 to 65 years, in order to evaluate the onset and evolution of the cardiac involvement in these disorders. All patients had a standard ECG and a routine echocardiography. The parameters analysed were the following: Heart rate (HR), PQ interval, PQ segment, Cardiomyopathic Index (ratio QT/PQs), ventricular and supraventricular ectopic beats, pauses > or = 2,5 msec, ventricle diameters, wall and septum thickness, ejection fraction, fiber shortening. The results showed that HR and the other ECG parameters were within the normal limits except for the Cardiomyopathic Index that was higher than the normal values (2,6-4,2) in 2 patients. Left ventricular systolic function was within the normal limits in all patients. A dilation of the left ventricle without systolic dysfunction was observed in only 2 patients, aged respectively 65 and 63 years; however they were hypertensive and/or affected by coronary artery disease. Data here reported contribute to reassure patients and their clinicians that type II/III SMAs do not present heart dysfunction.