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The study of women exposures and child outcomes occurring in the first 1,000 days of life since conception enhances understanding of the relationships between environmental factors, epigenetic changes, and disease development, extending beyond childhood and spanning the entire lifespan. Generation Gemelli is a recently launched case-control study that enrolls mother-newborns pairs in one of the largest university hospitals in Italy, in order to examine the association between maternal environmental exposures and intrauterine growth restriction (IUGR) and the risk of premature birth. The study will also evaluate the association of maternal exposures and the health and growth of infants and children up to 24 months of age. The study entails the set-up of a case-control study within a birth cohort. With approximately 4,000 annual deliveries, we aim to enroll 140 cases (newborns with IUGR and premature birth) and 280 controls per year, from September 2022. A comprehensive questionnaire will be used to gather information about various types of maternal environmental exposures before and during pregnancy. We will collect biological samples from both mothers and newborns (including vaginal swab, placenta sample, blood, saliva, meconium, and bronchoalveolar lavage fluid) at birth and within the early hours of the newborn's life. We will perform laboratory examinations including dosage of heavy metals and essential elements, investigation of placental distress and fetal brain damage of biomarkers, analysis of microbiota and of DNA methylation profile. We will conduct clinical follow-up assessments in both cases and controls at months 12 and 24 and we will collect anthropometric data, feeding types with particular reference to breastfeeding and its duration, pediatric emergency room visits, hospitalizations, medication usage, known allergies, and neuropsychological development. The Generation Gemelli case-control study holds the promise of significantly enhancing our comprehension of how maternal environmental exposures relate to the health of children and the broader population. The study of the exposome will provide insights into the relationships between environmental exposures, epigenetic changes and health outcomes during the first 1000 days of life and onward.

Introduction: Specific Learning Disorder (SLD) is a neurodevelopmental disorder characterized by difficulties in perceiving and processing verbal and non-verbal information. It is usually accompanied by impaired academic skills leading to school dropout and emotional disturbances, resulting in significant distress and behavioral problems. Methods: A cognitive, academic, and emotional-behavioral assessment was performed at T0 and T1 in children and adolescents with SLD. Participants received psychotherapy and speech therapy treatment from T0 to T1. Results: In SLD, the most compromised cognitive functions were working memory and writing skills. An impact on academic abilities was found. Children and adolescents with SLD experience greater anxiety and depression levels compared to their control peers. Conclusions: SLD may adversely influence psychological well-being. To counteract such a consequence, more specific cognitive and academic skill-oriented strategies should be taken into consideration.

Background: The advent of digital technology has significantly altered ways of writing. While typing has become the dominant mode of written communication, handwriting remains a fundamental human skill, and its profound impact on cognitive processes continues to be a topic of intense scientific scrutiny. Methods: This paper investigates the neural mechanisms underlying handwriting and typing, exploring the distinct cognitive and neurological benefits associated with each. By synthesizing findings from neuroimaging studies, we explore how handwriting and typing differentially activate brain regions associated with motor control, sensory perception, and higher-order cognitive functions. Results: Handwriting activates a broader network of brain regions involved in motor, sensory, and cognitive processing. Typing engages fewer neural circuits, resulting in more passive cognitive engagement. Despite the advantages of typing in terms of speed and convenience, handwriting remains an important tool for learning and memory retention, particularly in educational contexts. Conclusions: This review contributes to the ongoing debate about the role of technology in education and cognitive development. By understanding the neural differences between handwriting and typing, we can gain insights into optimal learning strategies and potential cognitive advantages, in order to optimize educational, cognitive, and psychological methodologies.

The present study aimed to investigate the electrophysiological correlates of face-identity recognition in newborn infants immediately after birth. Electroencephalographic acquisition was continuously recorded in 23 newborn infants (3 < age < 24 h of life) during the following visual task: presentation of a woman’s face for 60 s (“known face”); random presentation of 50 known faces, 50 novel women’s faces, and 50 chessboards (for 2 s each). The final sample included in ERP analyses was composed of 11 newborn infants (male/female: 6/5; age: 5 h 16′ ± 3 h 51′). A greater negative amplitude of the N290 and smaller P400 and LC2 were found in response to the known face compared with the novel one in the left hemisphere. A shorter N290 latency was detected during the known face presentation compared with the novel one, and a longer latency of the same component was observed during novel face presentation compared with the chessboard. These findings suggest that newborns process a face differently from an object at birth and that they can discriminate a new face from a familiar one previously viewed for one minute.

Background/Objectives: Autism spectrum disorder (ASD) has been extensively studied through neuroimaging, primarily focusing on grey matter and more in children than in adults. Studies in children and adolescents fail to capture changes that may dampen with age, thus leaving only changes specific to ASD. While grey matter has been the primary focus, white matter (WM) may be more specific in identifying the particular biological signature of the neurodiversity of ASD. Diffusion tensor imaging (DTI) is the more appropriate tool to investigate WM in ASD. Despite being introduced in 1994, its application to ASD research began in 2001. Studies employing DTI identify altered fractional anisotropy (FA), mean diffusivity, and radial diffusivity (RD) in individuals with ASD compared to typically developing (TD) individuals. Methods: We systematically reviewed literature on 21 May 2025 on PubMed using the following strategy: (“autism spectrum”[ti] OR autistic[ti] OR ASD[ti] OR “high-functioning autism” OR Asperger*[ti] OR Rett*[ti]) AND (DTI[ti] OR “diffusion tensor”[ti] OR multimodal[ti] OR “white matter”[ti] OR tractograph*[ti]). Our search yielded 239 results, of which 26 were adult human studies and eligible. Results: Analysing the evidence, we obtained regionally diverse WM alterations in adult ASD, specifically in FA, MD, RD, axial diffusivity and kurtosis, neurite density, and orientation dispersion index, compared to TD individuals, mostly in frontal and interhemispheric tracts, association fibres, and subcortical projection pathways. These alterations were less prominent than those of children and adolescents, indicating that individuals with ASD may improve during brain maturation. Conclusions: Our findings suggest that white matter alterations in adults with ASD are regionally diverse but generally less pronounced than in younger populations. This may indicate a potential improvement or adaptation of brain structure during maturation. Further research is needed to clarify the neurobiological mechanisms underlying these changes and their implications for clinical outcomes.

Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (UCMD), milder Bethlem myopathy (BM) and intermediate phenotypes (INT). We report the mutation landscape of COL6A genes in 138 Italian patients affected with a collagen VI-related phenotype. The patient cohort included 44 (32%) UCMD, 9 (7%) INT, 61 (44%) BM and 21 (15%) INT/BM patients; 3 patients (2%) with a myosclerosis myopathy (MM) phenotype were also considered. We identified 104 different variants: 26 in COL6A1 (25%), 52 in COL6A2 (50%) and 26 in COL6A3 (25%). The variant spectrum includes missense, splicing, small indel, frameshifting and nonsense variants. Glycine substitutions in the triple helical domain of the collagen VI protein are the commonest variants and occur in all phenotypes. Our genetic profiling disclosed a unique mutation scenario and phenotypic association of the COL6A2 gene with respect to COL6A1 and COL6A3, which may be related to a different evolutive history. Landscape mutation analysis of variants occurring in ultrarare conditions, such as collagen VI-related myopathies, is crucial to better understand the variations’ profile and to gain insight into fundamental knowledge about gene structure and its evolutive origin.

Background/Objectives: Children with above-average cognitive functioning often present complex developmental profiles, combining high cognitive potential with heterogeneous socio-emotional and learning trajectories. Although the cognitive and behavioral characteristics of giftedness have been widely studied in Anglophone countries, evidence remains limited in Southern Europe. This study aimed to investigate the cognitive, academic, and emotional–behavioral profiles of Italian children and adolescents with above-average cognitive functioning, using an inclusive, dimensional approach (IQ > 114). Methods: We analyzed a cross-sectional sample of 331 children and adolescents (ages 2.11–16.5 years), referred for clinical cognitive or behavioral evaluations. Participants were assessed using the WPPSI-III or WISC-IV for cognitive functioning, the MT battery for academic achievement, and the Child Behavior Checklist (CBCL) for emotional and behavioral symptoms. Comparative and correlational analyses were performed across age, gender, and functional domains. A correction for multiple testing was applied using the Benjamini–Hochberg procedure. Results: Gifted participants showed strong verbal comprehension (mean VCI: preschoolers = 118; school-aged = 121) and relative weaknesses in working memory (WM = 106) and processing speed (PS = 109). Males outperformed females in perceptual reasoning (PR = 121 vs. 118; p = 0.032), while females scored higher in processing speed (112 vs. 106; p = 0.021). Difficulties in writing and arithmetic were observed in 47.3% and 41.8% of school-aged participants, respectively. Subclinical internalizing problems were common in preschool and school-aged groups (mean CBCL T = 56.2–56.7). Working memory negatively correlated with total behavioral problems (r = −0.13, p = 0.046). Conclusions: These findings confirm the heterogeneity of gifted profiles and underscore the need for personalized educational and psychological interventions to support both strengths and vulnerabilities in gifted children. Caution is warranted when interpreting these associations, given their modest effect sizes and the exploratory nature of the study.

•Human milk banks provide safe breast milk for infants with difficulties.•Pandemics and infections have limited the use of human milk banks in recent years.•Psychological factors facilitate or prevent mothers from receiving or donating milk.•Desire to help others, support from staff, and personal well-being are facilitators.•Awareness of donated milk benefits facilitates safety fears and prevents donation. Human milk banks (HMBs), established in the early 20th century, aimed to provide safe breast milk for infants with challenges obtaining it. The spread of infections since the 1980s resulted in strict regulations and screening in HMBs, to ensure the safety of donated milk. Several social and personal factors discourage mothers from practicing breastfeeding, making donated milk a viable alternative because of its protective and immunity-enhancing properties. However, psychological barriers can affect the decision to donate or receive donated milk. To identify psychological factors related to donating and receiving human milk from HMBs, we searched PubMed to identify studies reporting psychological factors in donating and receiving milk and excluding studies not reporting psychological factors. The search identified 28 articles meeting the inclusion criteria. Eligible studies from various countries spanned from 1995 to 2023 and focused on psychological factors influencing milk donation and receiving. Most studies were descriptive–qualitative. Factors facilitating or hindering milk donation and reception included perceptions, psychological aspects, and previous experiences. Positive factors for donors included the desire to help other mothers, support from health care professionals, and personal well-being. Negative factors included breast milk exclusivity and discomfort caused by health checks. For recipients, awareness of donated milk benefits was a positive factor, whereas fear regarding safety was negative. The altruistic motivation to help other mothers drove many women to donate. Proper awareness and support from health care professionals and families can help women understand the value of milk donation and support their personal and identity reintegration, especially in cases of the loss of a child.

Human milk banks (HMBs), established since the early 20th century, aimed to provide safe breast milk for infants with difficulties to obtain it. The spread of infections since the 1980ies resulted in strict regulations and screening in HMBs, which ensured the safety of donated milk. Several social and personal factors discourage mothers from practicing breastfeeding, making donated milk a viable alternative due to its protective and immunity-enhancing properties. However, psychological barriers exist that affect the decision to donate/receive donated milk. To identify psychological factors related to donating/receiving human milk from HMBs, we searched PubMed to identify studies reporting on psychological factors in donating/receiving milk and excluding studies not reporting on psychological factors. Search identified 28 articles meeting inclusion criteria. Eligible studies from various countries spanned from 1995 to 2023 and focused on psychological factors influencing milk donation/receiving. Most studies were descriptive-qualitative. Factors facilitating or hindering milk donation/reception included perceptions, psychological aspects, and previous experiences. Positive factors for donors included the desire to help other mothers, support from healthcare professionals, and personal well-being. Negative factors included breast milk exclusivity and discomfort caused by health checks. For recipients, awareness of donated milk benefits was a positive factor, while fear regarding safety was negative. The altruistic motivation to help other mothers drove many women to donate. Proper awareness and support from healthcare professionals and families can help women understand the value of milk donation and support their personal and identity reintegration, especially in cases of loss of a child.

Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic–dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended.