Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Abstract The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy. The aim of this study was to assess (1) a cohort of typically developing children from the age of 3 years onwards in order to identify the age when the activities assessed in the individual items are consistently achieved, and (2) a cohort of 322 Duchenne children and young adults to establish the range of findings at different ages. We collected normative data for the scale validation on 277 typically developing subjects from 3 to 25 years old. A full score was consistently achieved by the age of 5 years. In the Duchenne cohort there was early involvement of the proximal muscles and a proximal to distal progressive involvement. The scale was capable of measuring small distal movements, related to activities of daily living, even in the oldest and weakest patients. Our data suggest that the assessment can be reliably used in both ambulant and non ambulant Duchenne patients in a multicentric setting and could therefore be considered as an outcome measure for future trials

The transition to parenthood according to different risk factors: prevalence of postnatal depressive symptoms in mothers and fathers.

The perinatal period is recognized as a sensitive time for a mother’s psychological state. While depressive symptoms have been widely studied in mothers, only recently literature is increasing on man’s psychological adjustment during the perinatal period, but still there is a lack of studies considering both woman and man’s perinatal mood. The aim of the study was to compare different contexts of transition to parenthood, characterized by the presence of specific risk factors (adolescent pregnancy, twin pregnancy, preterm birth) with conditions with low psychosocial risk, assessing the prevalence of maternal and paternal depressive symptoms and the relationship between woman and man’s symptomatology. Parental couples were recruited in different contexts, according to the aims of the study. For each field to investigate, 30 couples (30 mothers and fathers) were recruited (during the woman’s pregnancy or after childbirth), for a total of 180 couples. Consent form, socio-demographic form and Parental Cumulative Psychosocial Risk Questionnaire (PCPSRQ; PRIN, 2013) were completed by participants. The Edinburgh Postnatal Depression Scale (EPDS) was completed by women and men at 3 months postpartum in the Italian version, using validated cut-off values. Based on the literature, we expect to find a higher prevalence of depressive symptoms, in both mothers and fathers, where more relevant risk factors related to parenthood are present. We also expect to find a significant relationship between maternal and paternal mood. This study underlines the relevance of promoting prevention and intervention for both mothers and fathers, during a sensitive period as the perinatal one, considering the possible presence of specific risk factors. This research is supported by grants from PRIN 2013/2016 20107JZAF4, Italian Ministry for Education, University and Research (MIUR)

THE TRANSITION TO PARENTHOOD ACCORDING TO DIFFERENT RISK FACTORS: PREVALENCE OF POSTNATAL DEPRESSIVE SYMPTOMS IN MOTHERS AND FATHERS

The perinatal period is recognized as a sensitive time for a mother’s psychological state. While depressive symptoms have been widely studied in mothers, only recently literature is increasing on man’s psychological adjustment during the perinatal period, but still there is a lack of studies considering both woman and man’s perinatal mood. The aim of the study was to compare different contexts of transition to parenthood, characterized by the presence of specific risk factors (adolescent pregnancy, twin pregnancy, preterm birth) with conditions with low psychosocial risk, assessing the prevalence of maternal and paternal depressive symptoms and the relationship between woman and man’s symptomatology. Parental couples were recruited in different contexts, according to the aims of the study. For each field to investigate, 30 couples (30 mothers and fathers) were recruited (during the woman’s pregnancy or after childbirth), for a total of 180 couples. Consent form, socio-demographic form and Parental Cumulative Psychosocial Risk Questionnaire (PCPSRQ; PRIN, 2013) were completed by participants. The Edinburgh Postnatal Depression Scale (EPDS) was completed by women and men at 3 months postpartum in the Italian version, using validated cut-off values. Based on the literature, we expect to find a higher prevalence of depressive symptoms, in both mothers and fathers, where more relevant risk factors related to parenthood are present. We also expect to find a significant relationship between maternal and paternal mood. This study underlines the relevance of promoting prevention and intervention for both mothers and fathers, during a sensitive period as the perinatal one, considering the possible presence of specific risk factors. This research is supported by grants from PRIN 2013/2016 20107JZAF4, Italian Ministry for Education, University and Research (MIUR)

THE TRANSITION TO PARENTHOOD ACCORDING TO DIFFERENT RISK FACTORS: PREVALENCE OF POSTNATAL DEPRESSIVE SYMPTOMS IN MOTHERS AND FATHERS

The perinatal period is recognized as a sensitive time for a mother’s psychological state. While depressive symptoms have been widely studied in mothers, only recently literature is increasing on man’s psychological adjustment during the perinatal period, but still there is a lack of studies considering both woman and man’s perinatal mood. The aim of the study was to compare different contexts of transition to parenthood, characterized by the presence of specific risk factors (adolescent pregnancy, twin pregnancy, preterm birth) with conditions with low psychosocial risk, assessing the prevalence of maternal and paternal depressive symptoms and the relationship between woman and man’s symptomatology. Parental couples were recruited in different contexts, according to the aims of the study. For each field to investigate, 30 couples (30 mothers and fathers) were recruited (during the woman’s pregnancy or after childbirth), for a total of 180 couples. Consent form, socio-demographic form and Parental Cumulative Psychosocial Risk Questionnaire (PCPSRQ; PRIN, 2013) were completed by participants. The Edinburgh Postnatal Depression Scale (EPDS) was completed by women and men at 3 months postpartum in the Italian version, using validated cut-off values. Based on the literature, we expect to find a higher prevalence of depressive symptoms, in both mothers and fathers, where more relevant risk factors related to parenthood are present. We also expect to find a significant relationship between maternal and paternal mood. This study underlines the relevance of promoting prevention and intervention for both mothers and fathers, during a sensitive period as the perinatal one, considering the possible presence of specific risk factors. This research is supported by grants from PRIN 2013/2016 20107JZAF4, Italian Ministry for Education, University and Research (MIUR)

Parenting Stress, Mental Health, Dyadic Adjustment: A Structural Equation Model

Objective: In the 1st year of the post-partum period, parenting stress, mental health, and dyadic adjustment are important for the wellbeing of both parents and the child. However, there are few studies that analyze the relationship among these three dimensions. The aim of this study is to investigate the relationships between parenting stress, mental health (depressive and anxiety symptoms), and dyadic adjustment among first-time parents. Method: We studied 268 parents (134 couples) of healthy babies. At 12 months post-partum, both parents filled out, in a counterbalanced order, the Parenting Stress Index-Short Form, the Edinburgh Post-natal Depression Scale, the State-Trait Anxiety Inventory, and the Dyadic Adjustment Scale. Structural equation modeling was used to analyze the potential mediating effects of mental health on the relationship between parenting stress and dyadic adjustment. Results: Results showed the full mediation effect of mental health between parenting stress and dyadic adjustment. A multi-group analysis further found that the paths did not differ across mothers and fathers. Discussion: The results suggest that mental health is an important dimension that mediates the relationship between parenting stress and dyadic adjustment in the transition to parenthood

Perinatal Parenting Stress, Anxiety, and Depression Outcomes in First-Time Mothers and Fathers:A 3- to 6-Months Postpartum Follow-Up Study

Objective: Although there is an established link between parenting stress, postnatal depression, and anxiety, no study has yet investigated this link in first-time parental couples. The specific aims of this study were 1) to investigate whether there were any differences between first-time fathers\u2019 and mothers\u2019 postnatal parenting stress, anxiety, and depression symptoms and to see their evolution between three and 6 months after their child\u2019s birth; and 2) to explore how each parent\u2019s parenting stress and anxiety levels and the anxiety levels and depressive symptoms of their partners contributed to parental postnatal depression. Method: The sample included 362 parents (181 couples; mothers\u2019 MAge = 35.03, SD = 4.7; fathers\u2019 MAge = 37.9, SD = 5.6) of healthy babies. At three (T1) and 6 months (T2) postpartum, both parents filled out, in a counterbalanced order, the Parenting Stress Index-Short Form, the Edinburgh Postnatal Depression Scale, and the State-Trait Anxiety Inventory. Results: The analyses showed that compared to fathers, mothers reported higher scores on postpartum anxiety, depression, and parenting stress. The scores for all measures for both mothers and fathers decreased from T1 to T2. However, a path analysis suggested that the persistence of both maternal and paternal postnatal depression was directly influenced by the parent\u2019s own levels of anxiety and parenting stress and by the presence of depression in his/her partner. Discussion: This study highlights the relevant impact and effects of both maternal and paternal stress, anxiety, and depression symptoms during the transition to parenthood. Therefore, to provide efficacious, targeted, early interventions, perinatal screening should be directed at both parents

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and in 15 controls to investigate whether a quick and cheap molecular diagnosis could be provided. The average number of nonsynonymous and splice site mutations per subject was similar in the two cohorts indicating that, even with relatively small targeted platforms, finding the disease gene is not an univocal process. Our diagnostic yield was 47% with nine cases in which we identified a very likely causative mutation. In most of them no interpretation would have been possible in absence of detailed phenotype and familial information. Seven out of 19 patients had a phenotype suggesting the involvement of a specific gene. Disease-causing mutations were found in six of these cases. Among the remaining patients, we could find a probably causative mutation only in three. None of the genes affected in the latter cases had been suspected a priori. Our protocol requires 8-10 weeks including the investigation of the parents with a cost per patient comparable to sequencing of 1-2 medium-to-large-sized genes by conventional techniques. The platform we used, although providing much less information than whole-exome or whole-genome sequencing, has the advantage that can also be run on 'benchtop' sequencers combining rapid turnaround times with higher manageability

Detection of drug resistance mutations at low plasma HIV-1 RNA load in a European multicentre cohort study

Guidelines indicate a plasma HIV-1 RNA load of 500-1000 copies/mL as the minimal threshold for antiretroviral drug resistance testing. Resistance testing at lower viral load levels may be useful to guide timely treatment switches, although data on the clinical utility of this remain limited. We report here the influence of viral load levels on the probability of detecting drug resistance mutations (DRMs) and other mutations by routine genotypic testing in a large multicentre European cohort, with a focus on tests performed at a viral load <1000 copies/mL