- Fetal and Pediatric Neurological Disorders
- Maternal Mental Health During Pregnancy and Postpartum
- Prenatal Screening and Diagnostics
- Neonatal and fetal brain pathology
- Child and Adolescent Psychosocial and Emotional Development
- Assisted Reproductive Technology and Twin Pregnancy
- Infant Development and Preterm Care
- COVID-19 Impact on Reproduction
- Congenital Diaphragmatic Hernia Studies
- Pregnancy and preeclampsia studies
- Epilepsy research and treatment
- Family Support in Illness
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Child Abuse and Trauma
- Advanced Neuroimaging Techniques and Applications
- Infant Health and Development
- Cardiac Arrest and Resuscitation
- EEG and Brain-Computer Interfaces
- Parvovirus B19 Infection Studies
- Esophageal and GI Pathology
- Autism Spectrum Disorder Research
- Resilience and Mental Health
- Genomic variations and chromosomal abnormalities
- Congenital Ear and Nasal Anomalies
ASST Fatebenefratelli Sacco
2019-2025
University of Milan
2012-2025
Ospedale dei Bambini Vittore Buzzi
2011-2024
University of Genoa
2022
Cognitive Research (United States)
2022
Filadelfia
2021
Fatebenefratelli Hospital
2021
University of Southern Denmark
2021
Maastricht University
2021
Kempenhaeghe
2021
Abstract The COVID-19 pandemic is a global traumatic experience for citizens, especially during sensitive time windows of heightened plasticity such as pregnancy and neonatal life. Pandemic-related stress experienced by mothers may act an early risk factor infants’ regulatory capacity development altering maternal psychosocial well-being (e.g., increased anxiety, reduced social support) caregiving environment greater parenting stress, impaired mother–infant bonding). aim the present...
To describe changes in umbilical artery (UA) Doppler flow monochorionic diamniotic (MCDA) twins affected by selective intrauterine growth restriction (sIUGR), to correlate findings with pregnancy course and perinatal outcome, report postnatal follow-up.This was a retrospective study of 140 MCDA sIUGR. UA end-diastolic flow, defined as waveform pattern Type I (persistently positive), II absent or persistently reversed) III (intermittently intermittently reversed), recorded at first...
This paper aims to investigate if the dyadic interactive behaviours were influenced by parental stress and feelings both in preterm full-term mother-child dyads.45 mothers (age = 35.29 ± 5.38) fathers 36.77 6.89) of infants (GA 30.25 2.95; BW 1288.02 488.76), 36 32.60 4.56) 35.54 5.16) 39.88 1.38; 3156.39 493.81) involved. Parents filled out Impact Event Scale Revised (IES-R), Profile Mood States (POMS) Parenting Stress Index Short Form (PSI-SF) (Global Rating Scale) was videotaped after 3...
The COVID-19 pandemic represents a collective trauma that may have enduring stress effects during sensitive periods, such as pregnancy. Prenatal result in epigenetic signatures of stress-related genes (e.g., the serotonin transporter gene, SLC6A4) turn influence infants' behavioral development. In April 2020, we launched longitudinal cohort study to assess and vestiges COVID-19-related prenatal exposure mothers infants. was retrospectively assessed at birth. SLC6A4 methylation thirteen CpG...
The COVID-19 pandemic is a collective trauma that threatening citizens' mental health resulting in increased emotional stress, reduced social support, and heightened risk for affective symptoms. present study aimed to investigate the effects of antenatal pandemic-related stress perceived support on symptoms depression anxiety mothers who were pregnant during initial outbreak northern Italy. A sample 281 was enrolled at eight maternity units first hotspot region Participants filled out online...
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary severity outcome, the genotypic spectrum is diverse. We aim to trace neurodevelopmental trajectories individuals with STXBP1-DEE dissect relationship between neurodevelopment epilepsy.Retrospective standardized clinical data were collected through international collaboration. A composite score system compared STXBP1-DEE.Forty-eight patients de novo variants a history of epilepsy included (age range at...
To review the experience of performing selective feticide with bipolar cord coagulation (BCC) in complicated monochorionic (MC) twin pregnancies at a single center.This was retrospective analysis BCC performed using 3-mm forceps under ultrasound control cases by twin-to-twin transfusion syndrome, growth restriction, discordant anomaly or reversed arterial perfusion sequence.The series comprised 118 median gestational age time procedure 22 (range, 16-30) weeks. There were 14 (12%)...
<b><i>Objective:</i></b> To report the incidence of fetal and maternal complications after selective fetoscopic laser surgery for twin-to-twin transfusion syndrome (TTTS). <b><i>Methods:</i></b> A total 150 cases TTTS were treated from January 2004 to June 2009 (period 1, 2004–2006, 62 cases; period 2, 2007 2009, 88 cases). Fetal (double single intrauterine death, recurrence TTTS, twin anemia-polycythemia sequence (TAPS), reversal cerebral...
Introduction COVID-19 is a highly infectious respiratory disease that rapidly emerged as an unprecedented epidemic in Europe, with primary hotspot Northern Italy during the first months of 2020. Its high infection rate and rapid spread contribute to set risk for relevant psychological stress citizens. In this context, mother–infant health at not only because potential direct exposure virus but also due levels experienced by mothers from conception delivery. Prenatal associates...
Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved essential for normal postnatal brain development. Recently, PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study to define expand the phenotypic spectrum collecting data, including EEG, from large cohort affected patients. Data on unpublished published cases were collected through Syndrome Foundation literature. clinical, genetic,...
Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by MECP2 pathogenic variant 95% cases, from atypical girls, 40–73% carrying variants, rarely CDKL5 FOXG1 alterations. A large fraction RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to...
Background Moyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions syndrome, MMS), responsible for 6–10% of all childhood strokes and transient ischemic attacks (TIAs). Methods We conducted retrospective multicenter study on pediatric-onset MMD/MMS in Italy order to characterize disease presentation, course, management, neuroradiology, outcome European country. Results A total 65 patients (34/65...
Background Prenatal maternal stress is a key risk factor for infants’ development. Previous research has highlighted consequences socio-emotional and cognitive outcomes, but less known what regards socio-cognitive In this study, we report on the effects of prenatal related to COVID-19 pandemic 12-month-old behavioral markers Methods Ninety infants their mothers provided complete longitudinal data from birth 12 months. At birth, reported pandemic-related during pregnancy. 12-month-age, remote...
Malformations of cortical development (MCDs) are a heterogeneous family congenital brain malformations that originate from disturbed the cerebral cortex. MCDs can arise primary genetic disorders lead to dysfunction molecular processes controlling neuronal proliferation, migration, folding, or organization. also result secondary, disruptive causes, such as infection other in utero injuries. Sequelae include epilepsy, intellectual disability, and palsy, among symptoms, with high burden...
Abstract Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined of molybdenum‐dependent enzymes. Four different genes are involved biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH . The classical form manifests neonatal period with severe encephalopathy, including intractable seizures, MRI changes resemble hypoxic‐ischemic injury, microcephaly, early death. To date, an atypical phenotype late‐onset has been reported literature 13...