Who influences parents\u2019 decision on life support treatments for children with spinal muscular atrophy type 1?

Background: We aimed at assessing the influence of those who are part of the parents\u2019 social network (family, friends and health professionals) when they are making decisions about nutritional and respiratory support treatments for their SMA 1 children. Methods: We prepared a 46-question questionnaire to explore the factors that influence parents\u2019 decisions. The influence of the different persons, the degree of satisfaction with the treatment elected and the consistency between the treatment information and the child\u2019s status were assessed by the parents using a Likert scaleof ten (a higher score for a higher influence). Results: The secondary-care physicians have the main influence on parent\u2019s decisions about nutritional support (mean=6.4) and about respiratory support (mean=5.8). This influence is higher among decisions about Percutaneous Endoscopic Gastrostomy (mean=8.0) and among decisions about Tracheostomy Ventilation (mean=8.0). The degree of satisfaction with the chosen treatment is high (mean=7.9), and consistency between information about treatment and development of the illness also has a high score (mean=8.3). The hospital ethics committee was involved in 13.3% of the cases. Conclusions: The secondary-care physician influences parents\u2019 decisions about nutritional and respiratory support, particularly while choosing PEG and TV. The degree of satisfaction is very high regardless of the treatment chosen. The hospital ethics committee is not usually involved in the treatment decisions for SMA1 children

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status

Background: Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients. Methods: A total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7-35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L'Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients' contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated. Results: Of the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03-82%)] and HR/LF [median: 3.75 (interquartile range 3.19-5.05)] were elevated, independent from the wake-sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing. Conclusion: Our findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status

BackgroundSleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients.MethodsA total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7–35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L’Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients’ contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated.ResultsOf the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03–82%)] and HR/LF [median: 3.75 (interquartile range 3.19–5.05)] were elevated, independent from the wake–sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing.ConclusionOur findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression

Sleep architecture in children with spinal muscular atrophy type 2

There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls

Sleep architecture in infants with spinal muscular atrophy type 1

Objective: Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls. Methods: Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP). Results: Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients. Conclusion: The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP subtypes. We hypothesize that SMA1 patients have reduced arousability during non-rapid eye movement sleep, which could be interpreted as additional evidence of central nervous system involvement in this disease. © 2014 Elsevier B.V. All rights reserved

PedsQLTM 4.0 Generic Core Infant Scales Parents Report for Infants (ages13-24 months). Linguistic validation from original US English version to italian version

The purspose of this research was to show the translation and linguistic validation of the PedsQLTM 4.0 Generic Core Infant Scales Parents Report for Infants (ages 13-24 months) from its original English version to Italian language. Methods: The linguistic validation consists in three steps: a) different forward translations from the original US English instrument to Italian; this step includes the drawing of a \u201creconciliation\u201d version (version 1); b) backward translations from the Italian reconciliation version to US English; c) patient testing: the second version of the questionnaire (obtained after the backward translations) has to be tested on a panel of a minimmum of 5 respondents, throughout cognitive interviewing methodology, in order to obtain the final italian version of the PedsQLTM Parents Report for Infants (ages 13-24 months). In this report we summarize the third step of this process. To study the content validity, the applicability and comprehension of our questionnarie traslation, we tested it through a qualitative methodology in a sample of parents whose children were hospitalized in Bambino Ges\uf9 Children\u2019s Hospital with two different kinds of interview: 4 parents responded to the questions posed through a \u201cthinkaloud interview\u201d and 3 parents responded to the questionnaire and to a \u201crespondent debriefing\u201d interview. Results and conclusion: We modified the main question of each section and also one of the possible answer in order to maintain the Italian traslation that appeared in others PedsQLTM. We did not modify the questions of each section because respondents expressed that are clearly comprehensible and easy to understand