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Background: The use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important. Methods: This is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event. The 3 years preceding NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (SC) and a subsequent mitigation measures phase (MM) with milder restrictions. Interrupted Time Series (ITS) regression analysis was used to calculate PED Standardized Incidence Rate Ratios (SIRR) on the diagnostic categories exhibiting the greatest frequency and/or variation. Results: In the 60 months of the study there were 765,215 PED visits. Compared to the pre-pandemic rate, overall PED presentations dropped by 58 and 39% during SC and MM, respectively. "Symptoms, signs and Ill-defined conditions," "Injury and poisoning" and "Diseases of the Respiratory System" accounted for 74% of the reduction. A different pattern was instead seen for "Mental Disorders," which exhibited the smallest decrease during SC, and is the only category which rose already at the end of SC. ITS analysis confirmed the strong decrease during SC (level change, IRR 0.17, 95%CI 0.12-0.27) and a significant increase in MM (slope change, IRR 1.23, 95%CI 1.13-1.33), with the sharpest decline (-94%) and rise (+36%) observed in the "Diseases of the Respiratory System" category. Mental Disorders showed a significant increasing trend of 1% monthly over the whole study period exceeding pre-pandemic levels at the end of MM. Females and adolescents showed higher increasing rates both in SC and MM. Conclusion: NPIs appear to have influenced PED attendance in different ways according to diagnostic categories, mirroring different mechanisms of action. These effects are beneficial in some cases and harmful in others, and establishing a clear balance between pros and cons is a difficult task for public health decision makers. The role of NPIs on PED use appropriateness deserves investigation. The rise in pediatric mental disorders independent of the pandemic makes interventions addressing these issues urgent.
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COVID-19 , Servicio de Urgencia en Hospital , Análisis de Series de Tiempo Interrumpido , Humanos , COVID-19/epidemiología , COVID-19/prevención & control , Italia/epidemiología , Niño , Servicio de Urgencia en Hospital/estadística & datos numéricos , Femenino , Adolescente , Masculino , Preescolar , Lactante , SARS-CoV-2RESUMEN
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance. The female proband, her brother, and both her sons showed typical RP, with diminished or non-recordable full-field electroretinogram, narrowing of visual field, and variable losses of central vision. To investigate this apparently autosomal dominant pedigree, next generation sequencing (NGS) of a custom panel of RP-related genes was performed, further enhanced by bioinformatic detection of copy-number variations (CNVs). Unexpectedly, all patients had a compound heterozygosity involving two known pathogenic EYS variants i.e., the exon 33 frameshift mutation c.6714delT and the exon 29 deletion c.(5927þ1_5928-1)_(6078þ1_6079-1)del, with the exception of the youngest son who was homozygous for the above-detailed frameshift mutation. No pathologic eye conditions were instead observed in the proband's husband, who was a heterozygous healthy carrier of the same c.6714delT variant in exon 33 of EYS gene. These findings provide evidence that pseudodominant pattern of inheritance can hide an autosomal recessive RP partially or totally due to CNVs, recommending CNVs study in those pedigrees which remain genetically unsolved after the completion of NGS or whole exome sequencing analysis.
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Variaciones en el Número de Copia de ADN , Proteínas del Ojo , Linaje , Retinitis Pigmentosa , Humanos , Retinitis Pigmentosa/genética , Femenino , Masculino , Proteínas del Ojo/genética , Adulto , Persona de Mediana Edad , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Mutación del Sistema de Lectura , Genes Dominantes , Exones/genética , HeterocigotoRESUMEN
In Sicily (Italy), respiratory syncytial virus (RSV), rhinovirus (HRV), and influenza virus triggered epidemics among children, resulting in an increase in acute respiratory tract infections (ARTIs). Our objective was to capture the epidemiology of respiratory infections in children, determining which pathogens were associated with respiratory infections following the lockdown and whether there were changes in the epidemiological landscape during the post-SARS-CoV-2 pandemic era. MATERIALS AND METHODS: We analyzed multiplex respiratory viral PCR data (BioFire® FilmArray® Respiratory Panel 2.1 Plus) from 204 children presenting with respiratory symptoms and/or fever to our Unit of Pediatrics and Pediatric Emergency. RESULTS: Viruses were predominantly responsible for ARTIs (99%), with RSV emerging as the most common agent involved in respiratory infections, followed by human rhinovirus/enterovirus and influenza A. RSV and rhinovirus were also the primary agents in coinfections. RSV predominated during winter months, while HRV/EV exhibited greater prevalence than RSV during the fall. Some viruses spread exclusively in coinfections (human coronavirus NL63, adenovirus, metapneumovirus, and parainfluenza viruses 1-3), while others primarily caused mono-infections (influenza A and B). SARS-CoV-2 was detected equally in both mono-infections (41%) and coinfections (59%). CONCLUSIONS: Our analysis underlines the predominance of RSV and the importance of implementing preventive strategies for RSV.
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BACKGROUND: Vision has a key role in children's neuromotor, cognitive and social development. Children with visual impairment attain developmental milestones at later stages and are at higher risk of developing psychological disorders and social withdrawn. AIMS: We performed a scoping review to summarize the mostly used instruments assessing the impact of visual impairment on quality of life, functioning and participation of children and adolescents. In addition, the main findings of the included studies are discussed. METHODS AND PROCEDURES: We searched for papers assessing quality of life, functioning and participation of children and adolescents with visual impairment from 0 to 18 years old conducted between 2000 and 2023. OUTCOMES AND RESULTS: In total, 69 studies met the inclusion criteria and were included in the review. Child self-report, caregivers-proxy and self-report questionnaires as well as interviews were used. The results showed that quality of life, functioning and participation are significantly reduced in children and adolescents with visual impairment, and that the impact depends on different factors (e.g., severity of the impairment, age). CONCLUSIONS AND IMPLICATIONS: Considering the significant impact of visual impairment on quality of life, functioning and participation on this population, it is fundamental to develop integrated and multi-dimensional assessment programs that evaluate the impact of visual impairment on those dimensions considering different contexts of life (e.g., family, school, leisure time). WHAT THIS PAPER ADDS?: The present review aims to give an overview of what is known about the impact of visual impairment on quality of life, functioning and participation of children and adolescents. We assumed a biopsychosocial perspective which, in line with the definition of health by the International Classification of Functioning, Disability and Health (WHO, 2001), considered how body functions and structures, functioning, participation and environmental factors dynamically interact to define the health, or the disease, status of a person at a certain moment of life. We reported the most used instruments for the assessment of quality of life, participation, and functioning, with a specific interest on Patient-Reported Outcome Measures and self-report measures. By reporting the different instruments used, we gave a broad overview about the available tools that can be used in clinical as well as in research field to assess quality of life, functioning and participation in this population. Additionally, the review of the existing literature allowed us to demonstrate that those dimensions are negatively impacted by visual impairment and thus they should be considered in the assessment programs. Specifically, there is the need to provide more integrated assessment programs that investigate the impact of visual impairment on children and adolescents' social and emotional wellbeing, everyday functioning and social relationship, considering their subjective experience together with the one of caregivers, teachers, health care professionals, and other relevant adults involved in their life. Additionally, it is essential to plan and implement multidimensional assessment programs that consider how all areas of life are differently impacted by visual impairment.
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Calidad de Vida , Trastornos de la Visión , Humanos , Calidad de Vida/psicología , Niño , Adolescente , Trastornos de la Visión/psicología , Participación Social/psicología , PreescolarRESUMEN
Background: The use of Non-Pharmaceutical Interventions (NPIs), such as lockdowns, social distancing and school closures, against the COVID-19 epidemic is debated, particularly for the possible negative effects on vulnerable populations, including children and adolescents. This study therefore aimed to quantify the impact of NPIs on the trend of pediatric hospitalizations during 2 years of pandemic compared to the previous 3 years, also considering two pandemic phases according to the type of adopted NPIs. Methods: This is a multicenter, quasi-experimental before-after study conducted in 12 hospitals of the Emilia-Romagna Region, Northern Italy, with NPI implementation as the intervention event. The 3 years preceding the beginning of NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (up to September 2020) and a subsequent mitigation measures phase with less stringent restrictions. School closure was chosen as delimitation as it particularly concerns young people. Interrupted Time Series (ITS) regression analysis was applied to calculate Hospitalization Rate Ratios (HRR) on the diagnostic categories exhibiting the greatest variation. ITS allows the estimation of changes attributable to an intervention, both in terms of immediate (level change) and sustained (slope change) effects, while accounting for pre-intervention secular trends. Results: Overall, in the 60 months of the study there were 84,368 cases. Compared to the pre-pandemic years, statistically significant 35 and 19% decreases in hospitalizations were observed during school closure and in the following mitigation measures phase, respectively. The greatest reduction was recorded for "Respiratory Diseases," whereas the "Mental Disorders" category exhibited a significant increase during mitigation measures. ITS analysis confirms a high reduction of level change during school closure for Respiratory Diseases (HRR 0.19, 95%CI 0.08-0.47) and a similar but smaller significant reduction when mitigation measures were enacted. Level change for Mental Disorders significantly decreased during school closure (HRR 0.50, 95%CI 0.30-0.82) but increased during mitigation measures by 28% (HRR 1.28, 95%CI 0.98-1.69). Conclusion: Our findings provide information on the impact of COVID-19 NPIs which may inform public health policies in future health crises, plan effective control and preventative interventions and target resources where needed.
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COVID-19 , Hospitalización , Análisis de Series de Tiempo Interrumpido , Humanos , COVID-19/epidemiología , COVID-19/prevención & control , Italia/epidemiología , Niño , Adolescente , Hospitalización/estadística & datos numéricos , Preescolar , Femenino , Masculino , Distanciamiento Físico , Hospitales Pediátricos/estadística & datos numéricos , SARS-CoV-2 , Control de Enfermedades Transmisibles , Lactante , Cuarentena/estadística & datos numéricos , Instituciones Académicas , Estudios Controlados Antes y Después , PandemiasRESUMEN
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern. Moreover, a literature review differentiating the different types of neuroimaging data was conducted for comparison with our population. RESULTS: Thirty-one individuals were enrolled (17 females/14 males; age range 0.1-17.5 years old at first MRI). An experienced pediatric neuroradiologist reviewed brain MRIs, blindly to clinical data. Brain abnormalities were observed in all but one individual (compared to the 34% frequency found in the literature review). Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) and ventriculomegaly in 20/31 (65%). Other frequent features were the enlargement of the cisterna magna in 15/30 (50%) and polymicrogyria in 14/29 (48%). Conversely, the frequency of the latter was found to be 4% from the literature review. Notably, in our population, polymicrogyria was in the perisylvian area in all 14 cases, and it was bilateral in 10/14. CONCLUSIONS: Brain abnormalities are very common in PKS and occur much more frequently than previously reported. Bilateral perisylvian polymicrogyria was a main aspect of our population. Our findings provide an additional tool for early diagnosis.Further studies to investigate the possible correlations with both genotype and phenotype may help to define the etiopathogenesis of the neurologic phenotype of this syndrome.
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Encefalopatías , Trastornos de los Cromosomas , Polimicrogiria , Masculino , Femenino , Humanos , Niño , Lactante , Preescolar , Adolescente , Trastornos de los Cromosomas/diagnóstico por imagen , Trastornos de los Cromosomas/genética , Neuroimagen , Encéfalo/diagnóstico por imagen , Cromosomas Humanos Par 12 , Estudios Observacionales como AsuntoRESUMEN
PURPOSE: Our study aimed to evaluate the effectiveness of corticosteroids on seizure control in drug-resistant epilepsies (DREs). Our primary goal was to assess the response to steroids for various underlying etiologies, interictal electroencephalographic (EEG) patterns and electroclinical seizure descriptions. Our second goal was to compare steroid responsiveness to different treatment protocols. METHODS: This is a retrospective multicentre cohort study conducted according to the STROBE guidelines (Strengthening the Reporting of Observational Studies in Epidemiology). The following data were collected for each patient: epilepsy etiology, interictal EEG pattern, seizure types and type of steroid treatment protocol administered. RESULTS: Thirty patients with DRE were included in the study. After 6 months of therapy, 62.7 % of patients experienced reduced seizure frequency by 50 %, and 6.6 % of patients experienced complete seizure cessation. Findings associated with favourable response to steroids included structural/lesional etiology of epilepsy, immune/infectious etiology and focal interictal abnormalities on EEG. Comparing four different steroid treatment protocols, the most effective for seizure control was treatment with methylprednisolone at the dose of 30 mg/kg/day administered for 3 days, leading to greater than 50 % seizure reduction at 6 months in 85.7 % of patients. Treatment with dexamethasone 6 mg/day for 5 days decreased seizure frequency in 71.4 % of patients. Hydrocortisone 10 mg/kg administered for 3 months showed a good response to treatment in 71 %. CONCLUSIONS: In our study, two-thirds of patients with DRE experienced a significant seizure reduction following treatment with steroids. We suggest considering steroids as a potential therapeutic option in children with epilepsy not responding to conventional antiseizure medicines (ASM).
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Epilepsia Refractaria , Electroencefalografía , Humanos , Masculino , Femenino , Estudios Retrospectivos , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/fisiopatología , Adolescente , Niño , Preescolar , Metilprednisolona/uso terapéutico , Metilprednisolona/administración & dosificación , Dexametasona/uso terapéutico , Adulto , Adulto Joven , Resultado del Tratamiento , Anticonvulsivantes/uso terapéutico , Corticoesteroides/uso terapéutico , Hidrocortisona/uso terapéuticoRESUMEN
The fundamental role of vision during development and the nurturing role of early intersubjectivity have enabled the Robert Hollman Foundation to develop an early intervention program providing holistic support to visually impaired children and their families, where fostering parent-infant interactions is at the heart of our care. The aim of this study is to understand how parents perceive this approach. It is an eleven-year retrospective study of children following the Robert Hollman Foundation's early intervention program, in which parents' (n = 1086) perceptions of quality of care were measured through the administration of a specifically designed 4-point scale questionnaire. Annual longitudinal trends of parents' perceptions were calculated for every single response. Parents reported a very high satisfaction value in 21/23 questions (Mean > 3.7 out of a maximum score of 4, with the highest scores in human and soft skills of professionals) with a statistically positive trend (p < 0.05), throughout the period considered. Our core approach, based on an individualized nurturing relational support, has been appreciated and confirmed by the high satisfaction reported in the questionnaires by parents of children with visual impairment. We therefore hypothesize that parent-infant relationship-based and individualized approaches may help parents achieve better health, well-being, and quality of daily life for their children.
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[This corrects the article DOI: 10.3389/fped.2023.1094246.].
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Children who experience adversities in the pre-perinatal period are at increased risk of developing impairment later in life, despite the absence of overt brain and neurological abnormalities. However, many of these children exhibit sequelae several years after a period of normal appearance. As a result, the need for reliable developmental assessments for the early detection of infants at high risk of adverse neurodevelopmental outcomes has emerged. The Griffiths Mental Developmental Scales have a promising but poorly explored prognostic ability. This longitudinal study evaluated the predictive power of the Griffiths Mental Developmental Scales at 12 and 24 months on the cognitive and neuropsychological profile at 6 years of age in a sample of 70 children with a history of prematurity or perinatal asphyxia but without brain and neurological abnormalities. We found that the Griffiths Mental Developmental Scales at 24 months had good predictive ability on the intelligence quotient at 6 years and the capacity to predict some neuropsychological performances. On the other hand, the Griffiths Mental Developmental Scale at 12 months was not associated with the performance at 6 years or 24 months. Conclusion: Data on brain development converge to indicate that the first two years of age represent a critical stage of development, particularly for children experiencing mild pre-perinatal adversities who are thought to exhibit white matter dysmaturity. For this reason, this age is crucial for identifying which children are at major risk, leaving enough time to intervene before overt deficits become apparent. Brain development in the first 2 years could explain the limited reliability of early neurodevelopmental testing. What is Known: ⢠Pre-perinatal adversities increase the risk of developing neurodevelopmental disorders. ⢠The predictive ability of the Griffith scale is poorly explored in low-grade conditions. What is New: ⢠The predictive ability of the Griffith scale has been investigated in low-risk children. ⢠A complete neuropsychological profile could offer a more accurate prediction than the intellectual quotient.
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Enfermedades del Recién Nacido , Recien Nacido Prematuro , Recién Nacido , Lactante , Niño , Humanos , Estudios Longitudinales , Estudios Prospectivos , Reproducibilidad de los Resultados , Encéfalo , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/etiologíaRESUMEN
BACKGROUND: Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache. We investigated the clinical characteristics of preschoolers with headache to identify the features associated with a greater risk of secondary "dangerous" headache. METHODS: We performed a multicenter exploratory retrospective study in Italy from January 2017 to December 2018. Preschoolers with new-onset non-traumatic headache admitted to emergency department were included and were subsequently divided into two groups: hospitalized and discharged. Among hospitalized patients, we investigated the characteristics linked to potentially urgent intracranial conditions. RESULTS: We included 1455 preschoolers with acute headache. Vomiting, ocular motility disorders, ataxia, presence of neurological symptoms and signs, torticollis and nocturnal awakening were significantly associated to hospitalization. Among the 95 hospitalized patients, 34 (2.3%) had potentially urgent intracranial conditions and more frequently they had neurological symptoms and signs, papilledema, ataxia, cranial nerves paralysis, nocturnal awakening and vomiting. Nevertheless, on multivariable logistic regression analysis, we found that only ataxia and vomiting were associated with potentially urgent intracranial conditions. CONCLUSION: Our study identified clinical features that should be carefully evaluated in the emergency department in order to obtain a prompt diagnosis and treatment of potentially urgent intracranial conditions. The prevalence of potentially urgent intracranial conditions was low in the emergency department, which may suggest that age under six should not be considered an important risk factor for malignant causes as previously thought.
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Servicio de Urgencia en Hospital , Cefalea , Preescolar , Humanos , Niño , Estudios Retrospectivos , Cefalea/etiología , Vómitos/epidemiología , Vómitos/complicaciones , Ataxia/complicacionesRESUMEN
Background: Sleep disturbances are intertwined with the progression and pathophysiology of psychotic symptoms in schizophrenia. Reductions in sleep spindles, a major electrophysiological oscillation during non-rapid eye movement sleep, have been identified in patients with schizophrenia as a potential biomarker representing the impaired integrity of the thalamocortical network. Altered glutamatergic neurotransmission within this network via a hypofunction of the N-methyl-D-aspartate receptor (NMDAR) is one of the hypotheses at the heart of schizophrenia. This pathomechanism and the symptomatology are shared by anti-NMDAR encephalitis (NMDARE), where antibodies specific to the NMDAR induce a reduction of functional NMDAR. However, sleep spindle parameters have yet to be investigated in NMDARE and a comparison of these rare patients with young individuals with schizophrenia and healthy controls (HC) is lacking. This study aims to assess and compare sleep spindles across young patients affected by Childhood-Onset Schizophrenia (COS), Early-Onset Schizophrenia, (EOS), or NMDARE and HC. Further, the potential relationship between sleep spindle parameters in COS and EOS and the duration of the disease is examined. Methods: Sleep EEG data of patients with COS (N = 17), EOS (N = 11), NMDARE (N = 8) aged 7-21 years old, and age- and sex-matched HC (N = 36) were assessed in 17 (COS, EOS) or 5 (NMDARE) electrodes. Sleep spindle parameters (sleep spindle density, maximum amplitude, and sigma power) were analyzed. Results: Central sleep spindle density, maximum amplitude, and sigma power were reduced when comparing all patients with psychosis to all HC. Between patient group comparisons showed no differences in central spindle density but lower central maximum amplitude and sigma power in patients with COS compared to patients with EOS or NMDARE. Assessing the topography of spindle density, it was significantly reduced over 15/17 electrodes in COS, 3/17 in EOS, and 0/5 in NMDARE compared to HC. In the pooled sample of COS and EOS, a longer duration of illness was associated with lower central sigma power. Conclusions: Patients with COS demonstrated more pronounced impairments of sleep spindles compared to patients with EOS and NMDARE. In this sample, there is no strong evidence that changes in NMDAR activity are related to spindle deficits.
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Background: Urinary tract infection (UTI) represents one of the most common infectious diseases and a major cause of antibiotic prescription in children. To prevent recurrent infections and long-term complications, low-dose continuous antibiotic prophylaxis (CAP) has been used. However, the efficacy of CAP is controversial. The aim of this document was to develop updated guidelines on the efficacy and safety of CAP to prevent pediatric UTIs. Methods: A panel of experts on pediatric infectious diseases, pediatric nephrology, pediatric urology, and primary care was asked clinical questions concerning the role of CAP in preventing UTIs in children. Overall, 15 clinical questions were addressed, and the search strategy included accessing electronic databases and a manual search of gray literature published in the last 25 years. After data extraction and narrative synthesis of results, recommendations were developed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) methodology. Results: The use of CAP is not recommended in children with a previous UTI, with recurrent UTIs, with vesicoureteral reflux (VUR) of any grade, with isolated hydronephrosis, and with neurogenic bladder. CAP is suggested in children with significant obstructive uropathies until surgical correction. Close surveillance based on early diagnosis of UTI episodes and prompt antibiotic therapy is proposed for conditions in which CAP is not recommended. Conclusions: Our systematic review shows that CAP plays a limited role in preventing recurrences of UTI in children and has no effect on its complications. On the other hand, the emergence of new antimicrobial resistances is a proven risk.
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BACKGROUND: Psychopathology has not yet been studied beyond pediatric age for all degrees of prematurity, including late-preterm, particularly in those who grew up with no apparent neurodevelopmental sequelae. This study aimed to examine psychopathological outcome following preterm birth and admission to neonatal intensive care in young adults without major neurodevelopmental and psychopathological problems that emerged during childhood. METHODS: An Italian single-center prospective cohort study. Eighty-nine young adults (40 admitted to neonatal intensive care unit with less than 37 weeks of gestation and no medical history of other neurological or psychiatric conditions in childhood and 49 healthy peers born at term, matched by age, sex, and education) underwent neuropsychiatric interviews at the age of 20 ± 1 years; MINI International Neuropsychiatric Interview, Beck Depression Inventory and Barratt Impulsive Scale, results were correlated to individual neonatal data and cognitive measures. RESULTS: We found a significantly higher prevalence of psychopathology at MINI score (22.5% vs. 4.2%; χ2 = 6.7; p = 0,010) and prevalence of previous stressful life events in the preterm compared to at-term group. B.D.I. (testing depression) and BIS-11(testing impulsivity) did not highlight a statistically significant difference between the groups. All patients had average I.Q., a statistically significant difference (p < 0.001) was observed between groups with a better performance in controls than cases. CONCLUSIONS: Preterm infants attaining young adult age with otherwise typical development during childhood are at risk of psychopathology and lower resilience to stressful life events. The MINI interview could be a useful tool to highlight the psychopathology of preterm infants attaining adult age.
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Trastornos Mentales , Nacimiento Prematuro , Lactante , Femenino , Recién Nacido , Humanos , Adulto Joven , Niño , Adulto , Recien Nacido Prematuro , Estudios Prospectivos , Ansiedad , Edad GestacionalRESUMEN
Introduction: Thrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management. Methods: We present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management. Results: The RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0-18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled. Discussion: The RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.
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AIMS: To investigate the trajectory of bilirubin from birth to the first 48 h of life in neonates of women with gestational diabetes. METHODS: In a cohort of 69 neonates of women with gestational diabetes, delivered at Policlinic Abano, Abano Terme, Italy, from October 2021 to May 2022, we conducted a case-control study (1:2 ratio) on total serum bilirubin (TSB) trajectory over the first 48 h after birth. An ancillary analysis was conducted on arterial cord blood gas analysis at birth and on concurrent hemoglobin, hematocrit, lactate, glycemia, and bilirubin levels. RESULTS: The neonates of women with gestational diabetes showed a significantly higher mean percent variation of TSB from birth to the first 48 h of life (p = 0.01), a finding supported by a higher, although not significant, TSB levels at 48 h of life in comparison to controls (8.05 ± 4.8 vs 8.05 ± 4 mg%, p = 0.082), and by a significantly lower cord TSB levels (2.3 ± 0.9 vs 2.6 ± 0.9 mg%, p = 0.010). CONCLUSIONS: The findings suggest that future primary studies on hyperbilirubinemia risk in neonates of women with gestational diabetes should consider the trajectory of TSB beyond the first 48 h, adjusting for a more complete set of pre-pregnancy and gestational prognostic risk factors.
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Diabetes Gestacional , Recién Nacido , Embarazo , Humanos , Femenino , Estudios de Casos y Controles , Hiperbilirrubinemia , Bilirrubina , Factores de RiesgoAsunto(s)
Encefalopatías , COVID-19 , Leucoencefalitis Hemorrágica Aguda , Humanos , Niño , COVID-19/complicaciones , Encéfalo , Chaperonas MolecularesRESUMEN
Technological innovation can contribute to a reorganization of healthcare, particularly by supporting the shift in the focus of care from the hospital to the territory, through innovative citizen-centered models, and facilitating access to services in the territory. Health and social care delivery modalities, enabled by telemedicine, are crucial in this regard. The objective of this Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, is to define a standard for its use at the territorial level in various declinations in the pediatric field; this paper also identifies priority areas for its application and the types of services that most require intervention and investment. The changes that are underway in digital transformation in all sectors are unstoppable, and for the digital transformation to take place in a productive sense, the contribution of not only all health professionals, but also of patients, is necessary. From this perspective, authors from different backgrounds were involved in the drafting of this Consensus and, in the future, other figures, primarily patients, are expected to be involved. In fact, this belongs to the vision of connected care, in which the citizen/patient actively participates in the treatment path so that they are assisted in a personalized, predictive and preventive way. The future scenario must be able to provide for the involvement of patients from the initial stages of planning any treatment path, even in the pediatric age, and increasing, where possible, the proximity of the health service to the families.
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Telemedicine is considered an excellent tool to support the daily and traditional practice of the health profession, especially when referring to the care and management of chronic patients. In a panorama in which chronic pathologies with childhood onset are constantly increasing and the improvement of treatments has allowed survival for them into adulthood, telemedicine and remote assistance are today considered effective and convenient solutions both for the chronic patient, who thus receives personalized and timely assistance, and for the doctors, who reduce the need for direct intervention, hospitalizations and consequent management costs. This Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, has the objectives to propose an organizational model based on the relationships between the actors who participate in the provision of a telemedicine service aimed at minors with chronic pathologies, identifying specific project links between the areas of telemedicine in the developmental age from the first 1000 days of life to the age adult. The future scenario will have to be able to integrate digital innovation in order to offer the best care to patients and citizens. It will have to be able to provide the involvement of patients from the very beginning of the design of any care pathway, increasing where possible the proximity of the health service to citizens.
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Telemedicine has entered the daily lives of doctors, although the digital skills of healthcare professionals still remain a goal to be achieved. For the purpose of a large-scale development of telemedicine, it is necessary to create trust in the services it can offer and to favor their acceptance by healthcare professionals and patients. In this context, information for the patient regarding the use of telemedicine, the benefits that can be derived from it, and the training of healthcare professionals and patients for the use of new technologies are fundamental aspects. This consensus document is a commentary that has the aim of defining the information on and training aspects of telemedicine for pediatric patients and their caregivers, as well as pediatricians and other health professionals who deal with minors. For the present and the future of digital healthcare, there is a need for a growth in the skills of professionals and a lifelong learning approach throughout the professional life. Therefore, information and training actions are important to guarantee the necessary professionalism and knowledge of the tools, as well as a good understanding of the interactive context in which they are used. Furthermore, medical skills can also be integrated with the skills of various professionals (engineers, physicists, statisticians, and mathematicians) to birth a new category of health professionals responsible for building new semiotics, identifying criteria for predictive models to be integrated into clinical practice, standardizing clinical and research databases, and defining the boundaries of social networks and new communication technologies within health services.