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Background: Adolescents with neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD) and borderline intellectual functioning/intellectual disability (BIF/ID), represent a clinically complex population in psychiatric emergency settings, with unclear contributions to acute psychopathology and suicide risk. Aims: This study examined whether ASD and BIF/ID differentially influence clinical severity, psychopathological profiles, and suicidality in adolescents admitted for psychiatric emergencies, comparing high-functioning ASD, ASD with cognitive impairment, and adolescents without NDDs. Methods: We conducted a retrospective, single-center cohort study including 206 consecutive patients aged 11–17 years admitted to a psychiatric emergency unit between January 2022 and December 2023. Patients were stratified into four groups: ASD (ASD-HF; ASD-BIF/ID), BIF/ID and N-ASD/N-BIF/IDClinical severity, global functioning, psychiatric diagnoses, adverse childhood experiences, emotional dysregulation, and suicidality were assessed using standardized diagnostic and behavioral measures. Group comparisons were performed to identify predictors of suicidality. Results: ASD-BIF/ID patients exhibited the lowest global functioning, whereas ASD-HF adolescents showed functioning comparable to controls. Suicidal ideation and behaviors were significantly more frequent in ASD-HF. BIF/ID was associated with greater behavioral impairment and lower suicidality. Conclusions: ASD and BIF/ID may differentially shape psychiatric emergency presentations. Adolescents with high-functioning ASD showed a higher prevalence of suicidality in this specific clinical context. Limits: This study is limited by its cross-sectional, single-center, and retrospective design, small and uneven subgroup sizes, and assessment tools not specifically validated for autistic or intellectually disabled populations. The high prevalence of bipolar spectrum disorders may reflect referral bias. Despite these limitations, adolescents with high-functioning ASD exhibited elevated suicidality, underscoring the importance of risk assessment adapted to cognitive and diagnostic profiles.

Background: 47,XYY syndrome is a relatively common sex chromosome aneuploidy that remains largely underdiagnosed. While its somatic phenotype is often mild, growing evidence indicates a substantial burden of neurodevelopmental and psychiatric morbidity. However, the characterization of the neuropsychiatric phenotype across development, particularly during adolescence, and the associated treatment challenges remain incomplete. Objectives: To provide a comprehensive narrative review of the neuropsychiatric phenotype of 47,XYY syndrome and to illustrate clinical complexity and treatment response through a case series of adolescents. Methods: A narrative review of the literature was conducted focusing on genetics, neurodevelopmental and psychiatric features, neuroimaging and neurophysiology findings, clinical course, and management strategies in 47,XYY syndrome. This review is complemented by a case series of adolescents with confirmed 47,XYY karyotype, evaluated for developmental history, psychiatric comorbidity and response to pharmacological and non-pharmacological interventions. Results: The literature consistently describes increased risks of language impairment, executive dysfunction, ADHD, autism spectrum traits, and emotional and behavioral dysregulation in males with 47,XYY syndrome. Psychiatric vulnerability appears to increase during adolescence and adulthood, with elevated rates of mood, psychotic, and substance use disorders. The presented cases illustrate a convergent clinical trajectory marked by early developmental delays, progressive behavioral dysregulation in adolescence and limited or inconsistent response to multiple classes of psychotropic medications, suggesting a pattern of pharmacoresistance in a subset of patients. Conclusions: 47,XYY syndrome is associated with a distinct and heterogeneous neuropsychiatric phenotype that extends beyond early neurodevelopmental disorders. Early diagnosis alone may be insufficient to prevent severe psychiatric outcomes, highlighting the need for long-term monitoring and integrated, multidisciplinary management. Further research is required to identify early predictors of high-risk trajectories and to optimize treatment strategies for this population.

Appropriate and standardized techniques for the extraction of secondary metabolites with interesting biological activity from plants are required. In this work, a comparison of different conventional and unconventional extraction techniques (maceration—M, Soxhlet—S, ultrasound assisted extraction—UAE, and rapid solid-liquid dynamic extraction—RSLDE) was investigated. Bioactive compounds were extracted from Thymus vulgaris L. (thyme), Cannabis sativa L. (industrial hemp) and Coriandrum sativum L. (coriander) and chemically characterized for their volatile fraction and polyphenolic content by means of gas chromatography-mass spectrometry (GC-MS) and high performance liquid chromatography-ultraviolet (HPLC-UV). Linalool (48.19%, RSLDE) and carvacrol (21.30%, M) for thyme, caryophyllene (54.78%, S) and humulene (14.13%, S) for hemp, and linalool (84.16%, RSLDE) for coriander seeds were the main compounds among terpenes, while thyme was the richest source of polyphenols with rosmarinic acid (51.7 mg/g dry extract-S), apigenin (7.6 mg/g dry extract-S), and luteolin (4.1 mg/g dry extract-UAE) being the most abundant. In order to shed light on their potential as natural food preservatives, the biological activity of the extracts was assessed in terms of antioxidant activity (2,2′-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid—ABTS˙+, ferric reducing antioxidant power—FRAP, 2,2-diphenyl-1-picrylhydrazyl—DPPH˙ assays) and phenolic content (Folin–Ciocâlteu method). For thyme, Soxhlet extracts showed best performances in FRAP and ABTS˙+ assays (74 mg TE/g dry extract and 134 mg TE/g dry extract, respectively), while Soxhlet and RSLDE extracts recorded similar activity in DPPH˙ (107–109 mg TE/g dry extract). For hemp and coriander, indeed, RSLDE extracts accounted for higher antioxidant activity as evidenced by FRAP (80 mg TE/g dry extract and 18 mg TE/g dry extract, respectively) and ABTS˙+ (557 mg TE/g dry extract and 48 mg TE/g dry extract, respectively) assays. With respect to DPPH˙, the best results were observed for UAE extracts (45 mg TE/g dry extract and 220 mg TE/g dry extract, respectively). Our findings suggest that all the investigated techniques are valid extraction methods to retain bioactive compounds and preserve their activity for application in food and pharmaceutical formulations. Among them, the innovative RSLDE stands out for the slightly higher antioxidant performances of the extracts, coupled with the facility of use and standardization of the extraction process.

Within the unavoidable variability of various origins in the characteristics of essential oils, the aim of this study was to evaluate the effect of the distillation time on the chemical composition and biological activity of Cannabis sativa essential oils (EOs). The dry inflorescences came from Carmagnola, Kompolti, Futura 75, Gran Sasso Kush and Carmagnola Lemon varieties from Abruzzo region (Central Italy), the last two being new cultivar here described for the first time. EOs were collected at 2 h and 4 h of distillation; GC/MS technique was applied to characterize their volatile fraction. The EOs were evaluated for total polyphenol content (TPC), antioxidant capacity (AOC) and antimicrobial activity against food-borne pathogens and spoilage bacteria. The time of distillation particularly influenced EOs chemical composition, extracting more or less terpenic components, but generally enriching with minor sesquiterpenes and cannabidiol. A logical response in ratio of time was observed for antioxidant potential, being the essential oils at 4 h of distillation more active than those distilled for 2 h, and particularly Futura 75. Conversely, except for Futura 75, the effect of time on the antimicrobial activity was variable and requires further investigations; nevertheless, the inhibitory activity of all EOs against Pseudomonas fluorescens P34 was an interesting result.

The monitoring of phytoplankton is crucial to highlight changes in the marine ecosystems. In the present study, the phytoplankton community of an eLTER station in the Northern Adriatic Sea was analysed combining two approaches, i.e. microscopy and eDNA metabarcoding (targeting V4 and V9 regions of the 18S rRNA gene, and using PR2 and SILVA as reference databases), to highlight the strengths and weaknesses of these two methods. Metabarcoding revealed a so far unknown phytoplankton diversity (99 genera and 151 species), while microscopy detected 14 genera and 44 species not revealed by metabarcoding. Only a small percentage of genera and species were shared by the two methods (microscopy and metabarcoding), 18S regions (V4 and V9) and reference databases (PR2 and SILVA). Metabarcoding showed a community characterized by a higher number of phytoflagellate and dinoflagellate genera and species, in comparison with microscopy where diatom and dinoflagellate taxa were the most represented. Moreover, metabarcoding failed to reveal almost all the coccolithophores. The results confirmed metabarcoding as a powerful tool, but it should still be combined with microscopy to have a more detailed information on the community and to counteract the drawbacks of metabarcoding, such as gaps in the reference databases.

BackgroundOver the last few years, there has been increasing attention to the involvement of the central nervous system in Duchenne muscular dystrophy (DMD). The aim of this study was to assess the spectrum of neurodevelopmental and mental disorders and possible required intervention in our cohort of 264 boys and adults with DMD.MethodsWe retrospectively analysed clinical notes and psychological assessments, including routinely performed cognitive tests and clinical observations. Intelligence quotients and site of mutations were also noted.Results103/264 individuals (39%) had symptoms compatible with one of the following diagnoses: attention deficit hyperactivity disorder (ADHD) (n=26), autism spectrum disorder (ASD) (n=11), depressive mood/disruptive mood dysregulation disorder (n=27), anxiety disorder (n=17), obsessive-compulsive disorder (n=2), psychosis risk syndrome (n=7), and 13 had a more complex phenotype. ADHD and ASD were more frequent in infancy, emotional dysregulation during early adolescence, and psychosis and more severe phobias in older boys and adults. The risk of developing these disorders did not increase with the concomitant involvement of the dystrophin isoforms Dp140 and Dp71. Pharmacological treatment was suggested for 48 individuals but was started only in 24, as it was refused by the remaining 24 families.ConclusionsOur findings confirm that neurodevelopmental and mental disorders are common in DMD and are likely to have a multifactorial nature. These findings support the need for disease-specific assessments and the need to increase awareness of the possible behavioural and social difficulties among families and healthcare professionals.

The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53. The difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01). Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases. Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.

BackgroundChiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children.MethodsA multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale (“strongly disagree,” “disagree,” “agree,” “strongly agree”). Statements that were endorsed (“agree” or “strongly agree”) by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three).ResultsThirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the “definition of radiological failure 24 month post-surgery.”ConclusionsThe consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.

The Italian Duchenne muscular dystrophy expert clinicians, gathered in the Italian Association of Myology (AIM), intend to express a position against the suspension of the Marketing Authorization of ataluren (Translarna ) for the treatment of nonsense mutation Duchenne muscular dystrophy. The marketing authorization has been recently withdrawn by the European Commission following a recommendation from the Committee for Medicinal Products for Human Use of the European Medicines Agency. This negative recommendation was based on the fact that three randomized controlled trials of ataluren in nonsense mutation Duchenne muscular dystrophy (007, 020, and 041) have failed to show statistically significant differencs in favor of the treatment in the selected primary outcomes for each individual study, i.e., 6-min walk distance, in the intent-to-treat population for 007 and 020 and in a subgroup for 041. However, observed differences always favored treatment, and several clinically meaningful secondary outcomes were positive and statistically significant across studies. Importantly, the largest and longest phase III study (041) showed a statistically significant effect in favor of ataluren in the wider intent-to-treat population. Furthermore, a long-term registry of \"real-world\" ataluren treatment data (Strategic Targeting of Registries and Database of Excellence, STRIDE), in addition to confirming a reassuring safety profile, suggested a prolonged maintenance of ambulatory, upper limb, and respiratory function. We deem that a withdrawal of ataluren from the European market would harm not only patients with nonsense mutation Duchenne muscular dystrophy, but the whole neuromuscular field, in which clinical trials are challenging because of the heterogenous complex slow-progressing nature of the disorders.

In the present study, the essential oils (EOs) of some officinal plants from Abruzzo territory (Italy) were evaluated for their antimicrobial and antioxidant activities and their volatile fraction chemical characterization. The EOs were extracted from Rosmarinus officinalis, Origanum vulgare, Salvia officinalis, Mentha piperita, Allium sativum, Foeniculum vulgare, Satureja montana, Thymus vulgaris and Coriandrum sativum seeds. The antimicrobial activity was screened against thirteen Gram-positive and Gram-negative strains to determine the Minimal Inhibitory Concentration (MIC). The total phenolic content (TPC) and the antioxidant capacity (AOC) were assessed by means of Folin-Ciocâlteu method, and Trolox Equivalent Antioxidant Capacity with 2,2′-azinobis-(3-ethylbenzothiazoline-6-sulfonic acid (TEAC/ABTS), Ferric Reducing Antioxidant Power (FRAP) and 2,2-diphenyl-1-picrylhydrazyl (DPPH) assays respectively. Among the nine EOs tested, T. vulgaris, S. montana, O. vulgare and C. sativum EOs showed MIC values ranging from 0.625 to 5 μL/mL. The AOC and TPC results for these species were also interesting. The major components for these EOs were thymol for T. vulgaris (44%) and O. vulgare (40%), linalool (77%) for C. sativum, and carvacrol for S. montana (54%). The results allowed the study to establish that these EOs are good candidates for potential application as biopreservatives in foods and/or food manufacture environments.