Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.

The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as "spinal muscular atrophy," "SMA," "cognitive," "abilities," "functions," "intellective," or "intellectual." Screening focused on titles and abstracts from English language peer-reviewed journals. After the initial research, 1452 articles were identified. Subsequent screening and selection led to the inclusion of 13 articles in the review. Among these studies, four indicated a cognitive trend within the normal range for SMA patients. In four other studies, the majority of patients fell within the normal range. However, smaller proportions were observed to be either above or below the norm compared to the controls. Three studies reported noted cognitive performance below the average, while two showed above-average scores. The scoping review suggests that most SMA patients have cognitive abilities similar to the general population, with types II and III showing even lesser impact. However, certain cognitive domains may be affected in type I patients, highlighting the need for further research to fully understand cognitive involvement in SMA.

Clinical relevance of SARS-CoV-2 infection in late pregnancy.

BACKGROUND: Evidence on the outcome of SARS-CoV-2 infection in pregnancy is generally reassuring but yet not definitive. METHODS: To specifically assess the impact of SARS-CoV-2 infection in late pregnancy, we prospectively recruited 315 consecutive women delivering in a referral hospital located in Lombardy, Italy in the early phase of the epidemic. Restriction of the recruitment to this peculiar historical time period allowed to exclude infections occurring early in pregnancy and to limit the recall bias. All recruited subjects underwent a nasopharyngeal swab to assess the presence of Sars-Cov-2 using Real-time PCR. In addition, two different types of antibodies for the virus were evaluated in peripheral blood, those against the spike proteins S1 and S2 of the envelope and those against the nucleoprotein of the nucleocapsid. Women were considered to have had SARS-CoV-2 infection in pregnancy if at least one of the three assessments was positive. RESULTS: Overall, 28 women had a diagnosis of SARS-CoV-2 infection in pregnancy (8.9%). Women diagnosed with the infection were more likely to report one or more episodes of symptoms suggestive for Covid-19 (n = 11, 39.3%) compared to unaffected women (n = 39, 13.6%). The corresponding OR was 4.11 (95%CI: 1.79-9.44). Symptoms significantly associated with Covid-19 in pregnancy included fever, cough, dyspnea and anosmia. Only one woman necessitated intensive care. Pregnancy outcome in women with and without SARS-CoV-2 infection did not also differ. CONCLUSIONS: SARS-CoV-2 infection is asymptomatic in three out of five women in late pregnancy and is rarely severe. In addition, pregnancy outcome may not be markedly affected.

Exploring Visual Perspective Taking and body awareness in children with Autism Spectrum Disorder.

INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests. RESULTS: Children with ASD or ID were more impaired in body awareness development compared to TD (p < .001) children. The ASD group differentiates largely from the other two groups in the mean VPT (p < .001) scores. CONCLUSIONS: The current study provides a framework for considering social impairments in autism on a broader scale, including visuoperceptual and body awareness difficulties as a core contributor to social interaction difficulties.

Antenatal toxoplasmosis screening and treatment in Northern Italy: update on the clinical effectiveness.

BACKGROUND: Antenatal universal screening for toxoplasmosis is recommended in most affluent countries worldwide. Despite evidence is not robust, detected cases are typically treated during pregnancy. Affected newborns are also treated to temper clinical consequences. However, this established mode of management warrants careful and continuous re-evaluation. The epidemiology of the infection is changing and there is the need to monitor the clinical scenario. METHODS: This is an observational retrospective study conducted at a referral hospital in Northern Italy. Every woman referred from January 2011 to December 2021 for suspected toxoplasmosis in pregnancy was eligible. All women were managed according to a local standardized protocol. Clinical and laboratory findings were obtained from patients' charts. RESULTS: Out of 347 women referred, 191 (55%) were discharged as false positive at initial assessment. We identified 141 women with suspected infection and 15 with confirmed infection. The number of women treated with antibiotics was 136 (96%) and 15 (100%), respectively. A total of 118 amniocenteses were performed, all of which were negative. There were two spontaneous miscarriages and five therapeutic terminations of pregnancy (of whom four were consequent to parental concerns related to the toxoplasmic infection), all among suspected cases. Vertical transmission occurred in a single case, a patient with confirmed infection diagnosed by seroconversion at 28 weeks' gestation. The course of this pregnancy was uneventful, and the infant is healthy at 7 years follow-up. Overall, the incidence of vertical transmission was 7% (95% CI: 1-30%) in confirmed cases and 0% (95% CI: 0-0.2%) in suspected cases. CONCLUSIONS: The current policy of universal screening and prompt management of toxoplasmosis infection is efficient. However, undue invasive procedures and terminations of pregnancy could occur. Future studies are warranted to improve clinical management.

Risk of stillbirth in singleton fetuses with advancing gestational age at term: A 10-year experience of late third trimester prenatal screenings of 50,000 deliveries in a referral center in northern Italy.

BACKGROUND: The risk of intrauterine death (IUD) at term varies from less than one to up to three cases per 1,000 ongoing pregnancies. The cause of death is often largely undefined. Protocols and criteria to prevent and define the rates and causes of stillbirth are the subjects of important scientific and clinical debates. We examined the gestational age and rate of stillbirth at term in a 10-year period at our maternity hub to evaluate the possible favorable impact of a surveillance protocol on maternal and fetal well-being and growth. METHODS AND FINDINGS: Our cohort included all women with singleton pregnancies resulting in early term to late term birth at our maternity hub between 2010 and 2020, with the exclusion of fetal anomalies. As per our protocol for monitoring term pregnancies, all women underwent near term to early term maternal and fetal well-being and growth surveillance. If risk factors were identified, outpatient monitoring was initiated and early- or full-term induction was indicated. Labor was induced at late term (41+0-41+4 weeks of gestation), if it did not occur spontaneously. We retrospectively collected, verified, and analyzed all cases of stillbirth at term. The incidence of stillbirth at each week of gestation, was calculated by dividing the number of stillbirths observed that week by the number of women with ongoing pregnancies in that same week. The overall rate of stillbirth per 1000 was also calculated for the entire cohort. Fetal and maternal variables were analyzed to assess the possible causes of death. RESULTS: A total of 57,561 women were included in our study, of which 28 cases of stillbirth (overall rate, 0.48 per 1000 ongoing pregnancies; 95% CI: 0.30-0.70) were identified. The incidence of stillbirth in the ongoing pregnancies measured at 37, 38, 39, 40, and 41 weeks of gestation was 0.16, 0.30, 0.11, 0.29, and 0.0 per 1000, respectively. Only three cases occurred after 40+0 weeks of gestation. Six patients had an undetected small for gestational age fetus. The identified causes included placental conditions (n = 8), umbilical cord conditions (n = 7), and chorioamnionitis (n = 4). Furthermore, the cases of stillbirth included one undetected fetal abnormality (n = 1). The cause of fetal death remained unknown in eight cases. CONCLUSIONS: In a referral center with an active universal screening protocol for maternal and fetal prenatal surveillance at near and early term, the rate of stillbirth was 0.48 per 1000 in singleton pregnancies at term in a large, unselected population. The highest incidence of stillbirth was observed at 38 weeks of gestation. The vast majority of stillbirth cases occurred before 39 weeks of gestation and 6 of 28 cases were SGA, and the median percentile of the remaining case was the 35th.

An hypothetical external validation of the ARRIVE trial in a European academic hospital.

BACKGROUND: Recent evidence supports elective induction of labor at 39 weeks in low-risk pregnancies to improve maternal and perinatal outcomes. This evidence includes the ARRIVE trial (A Randomized Trial of Induction Versus Expectant Management). However, concerns have been raised on the external validity of the ARRIVE trial, especially with regard to the demographic and clinical characteristics of the pregnant women recruited. OBJECTIVE: This study compared the outcomes in a cohort of consecutive pregnant women, who fulfilled the criteria of the ARRIVE trial and were managed expectantly in an Italian referral academic hospital, with those reported in the expectant and induction arms of the ARRIVE trial. STUDY DESIGN: This was a retrospective single-center study. Consecutive low-risk nulliparous women who fulfilled the ARRIVE trial criteria were evaluated for eligibility at 36-38 weeks of gestation. Those who neither developed complications nor delivered spontaneously before 39 weeks were eligible for this comparative analysis. Maternal and fetal growth and wellbeing were screened and monitored from 36 to 38 weeks of gestation. RESULTS: A total of 1696 patients met the established criteria at recruitment. Of these, 343 spontaneously delivered in <39 weeks, 82 delivered because of maternal indication, and 37 for fetal indication. A total of 1234 pregnant women were eligible for comparison with the elective induction and the expectant management groups of the ARRIVE trial. The socioeconomic status was significantly better, maternal age was significantly higher, and body mass index was significantly lower in our cohort. Cesarean section rate in our cohort was lower than that of the expectant group of the ARRIVE trial (18.7 vs. 22.2%; p = 0.02) and similar to that of the elective induction group (18.7 vs. 18.6%). A new diagnosis of hypertensive disorders during expectant management was noted in 1.6% in our cohort vs. 14.1% in the ARRIVE arm. Among the different obstetric outcomes, only the prevalence of postpartum hemorrhage was not significantly lower in our cohort. The primary perinatal composite outcome was significantly better in our cohort than in both arms of the ARRIVE trial (2.1 vs. 5.4% in the expectant group and 4.3% in the induction group). We did not record cases with an Apgar score ≤ 3 or hypoxic-ischemic encephalopathy. CONCLUSION: In our cohort, expectant management in low-risk pregnancies with late preterm screening of feto-maternal well-being seemed to achieve better maternal and perinatal outcomes than a universal policy of induction at 39 weeks. The results of the ARRIVE trial should be carefully evaluated in different demographic and clinical settings and cannot be extended to the general population.

Characterization of Autism Spectrum Disorder (ASD) subtypes based on the relationship between motor skills and social communication abilities.

Motor abnormalities are generally observed in autism spectrum disorder (ASD), and motor difficulties are certainly evident during the early years of life and may thus precede social-communication impairments. The main aim of the present study was to examine ASD subtypes based on the relationship between motor skills and social communication abilities. Motor skills and social communication abilities were evaluated through the Movement Assessment Battery for Children-Second Edition, the Autism Diagnostic Observation Schedule-Second Version and the Psychoeducational Profile-Third Edition. In addition, social communication abilities were classified according to the Autism Classification System of Functioning: Social Communication-ACSF:SC criteria. We found that children with ASD presented poorer motor skills than their TD peers, and motor impairments correlated with poorer social communication abilities in children with ASD. In addition, children with lower social and communication functioning showed a more prominent impairment in manual dexterity and fine motor skills than children with better social and communication functioning. In conclusion, we suggest that stratifying children with ASD based on motor and social endophenotypes may be useful to understand the neurobiological mechanisms of ASD and lead to new types of treatment.

Differences in Developmental Functioning Profiles Between Male and Female Preschoolers Children With Autism Spectrum Disorder.

This study investigated differences in clinical symptoms and developmental functioning profiles as well as sex-specific correlations of clinical characteristics and communication abilities, motor skills, and maladaptive behaviors in male and female preschoolers with autism spectrum disorder (ASD). Fifty-two females (mean age 4.5 ± 2.16 years old) and 62 males (mean age 4.2 ± 1.17 years old) with ASD were enrolled and assessed by measures including the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Psychoeducational Profile-Third Edition (PEP-3). We found intellectual disability in 91.2% of the children. While preschoolers with ASD showed comparable severity of restricted and repetitive behaviors (P = 0.17), females with ASD were less severely affected than age and intelligence quotient-matched males with ASD in the ADOS-2 social affect domain (P value = 0.001) and calibrated severity scores (P = 0.002). Interestingly, sex-specific linear regressions revealed that fine motor skills were predictive of impaired social affect in males but not in females. Specifically, motor skills might be the core feature for sex differences in ASD. Although preliminary, this finding suggests the need for more sex-specific diagnostic and intervention strategies in order to improve early identification efforts and specific intervention targets. LAY SUMMARY: Little is known about differences in developmental and functional profiles in males and females with autism spectrum disorder (ASD). We found important similarities and differences in the core ASD symptoms between male and female preschoolers. In addition, fine motor skills seem to predict social affect impairment and ASD symptom severity in males with ASD. Autism Res 2020, 13: 1537-1547. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

The Empathizing-Systemizing Theory and 'Extreme Male Brain' (EMB) Theory in Parents of Children with Autism Spectrum Disorders (ASD): An Explorative, Cross-Sectional Study.

The aim of this study was to evaluate whether empathizing and systemizing are part of the parental broad autism phenotype (BAP). Parents (N = 76) of preschool children with a diagnosis of ASD and parents (N = 48) of typically developing (TD) children completed the Empathy Quotient (EQ) and Systemizing Quotient-Revised (SQ-R) questionnaires. The E-S discrepancy (D score) was used to test for sex differences in five "brain types". Our results suggest that the E-S theory do not seem to be part of the BAP. However, a stronger drive to systemize than empathize (Type S brain) could be a highly inheritable cognitive endophenotype of mothers of children with ASD. This study should be repeated with a larger sample size.

Rehabilitación cardiaca en pacientes Chagásicos con insuficiencia cardiaca / Chagasic cardiac rehabilitation in patients with heart failure

Introducción: La capacidad funcional de los pacientes Chagásicos con insuficiencia cardíaca crónica suele deteriorarse en forma significativa y progresiva. Los programas de rehabilitación cardiovascular, RHCV, han demostrado amplios beneficios en pacientes con otras cardiopatías y múltiples facotres de riesgo. Objetivo: Evaluar la mejoría de la capacidad funcional en pacientes portadores de Insuficiencia Cardíaca de etiología Chagásica, con un protocolo de RHCV durante un año. Material y métodos: Se incluyeron pacientes en clase funcional II de la NYHA. A todos los pacientes sé los evaluó con la prueba de caminata de 6 minutos, consumo de oxígeno máximo, VO2 max, en ml/kg/min, capacidad funcional, en equivalentes metabólicos, METS, escala de percepción de esfuerzo de Borg, índice de eficiencia miocárdica, IEM, y la fracción de eyección, FE. Estos parámetros se valoraron cada 3 meses y se comparó cada paciente contra sí mismo al cabo de un año. Resultados: Ingresaron 42 pacientes, 17 varones de 41 a 56 años, promedio 54; y 25 mujeres de 45 a 57 años, promedio de 51, en clase funcional II, cuya prueba de caminata de 6 minutos fue de 375 metros, V02 max 15-18, 4.28-5.14 METS, escala de Borg 4-5, IEM 0.82 y FE igual 0.35. Al finalizar el año, 30 pacientes completaron el programa de RHCV: pasaron de clase funcional I, prueba de caminata de 6 min mayor 375 metros, V02 max 20-25, 6-7 METS, escala de Borg 5-7, IEM 1,17 y FE igual 0.45. Conclusiones: La aplicación de un programa de rehabilitación en pacientes Chagásicos con insuficiencia cardiaca en clase funcional II, se tradujo en una mejoría de la capacidad funcional, evaluada por distintos índices. La realización del entrenamiento físico programado, en estos enfermos demostró resultados satisfactorios, con una adherencia importante al tratamiento.