Daniele Marcotulli

Autism spectrum disorder (ASD) has a strong genetic component. Chromosomal microarray analysis is recommended as a first‐tier genetic test for individuals with ASD, with a reported diagnostic yield of 5.4%–14%. We performed a‐CGH analysis in ASD patients to evaluate diagnostic yield and genotype–phenotype correlations. Clinical features were collected and analyzed to assess associations with pathogenic/likely pathogenic (P/LP) CNVs. Segregation analysis was performed when feasible. A total of 466 patients were included (22.1% female; age range 3–59 years). Twenty‐two patients (4.7%) carried at least one P/LP CNV, 129 (27.7%) had a variant of uncertain significance (VUS), and 315 (67.6%) tested negative. No significant associations were observed between a positive a‐CGH result and age, family history, autism severity, perinatal distress, epilepsy, intellectual disability, congenital malformations, micro‐/macrocephaly, or facial dysmorphisms. In contrast, positivity was significantly higher in females ( p = 0.029) and in individuals with growth disorders ( p = 0.003). a‐CGH showed a diagnostic yield of 4.7%, slightly below the lower range reported in the literature. Clinically significant CNVs were also identified in individuals with isolated ASD, supporting the use of a‐CGH beyond syndromic presentations. Overall, a‐CGH analysis in ASD plays a dual role: identifying established risk loci and uncovering emerging candidate genes.

Teachers play a key role as gatekeepers in adolescent suicide prevention, and knowledge about suicidality is a well-established predictor of teachers’ gatekeeper self-efficacy. However, little attention has been paid to other potential predictors, particularly teachers’ empathy and self-efficacy in collaborating with colleagues to support adolescents experiencing mental distress. This cross-sectional study examined the associations between suicide-related knowledge, teacher empathy (perspective taking, empathic concern, and personal distress), collaborative self-efficacy, and gatekeeper self-efficacy. A convenience sample of 455 Italian secondary school teachers (84% female; mean age = 46.7 years, SD = 10.5) completed an anonymous self-report questionnaire. Data was analyzed using descriptive statistics and multiple regression analyses. Overall, teachers demonstrated adequate knowledge of adolescent suicidality. However, several myths persisted, including the belief that openly talking about suicide may increase risk. Higher gatekeeper self-efficacy was associated with greater knowledge, higher levels of perspective taking and empathic concern, lower levels of empathic distress, greater collaborative self-efficacy, and prior exposure to adolescent suicidality. These findings underscore the joint contribution of personal and relational factors to teachers’ gatekeeper self-efficacy and offer important implications for the development of teacher-focused gatekeeper training programs.

Background: Anorexia nervosa (AN) may require nasogastric tube (NGT) feeding when oral intake is insufficient. Evidence on the psychological impact and prognostic correlates of NGT use in adolescents affected with AN is limited. Methods: Fifty-seven adolescent inpatients (96.5% female; age range 12–18 years; and mean age 15.0 ± 1.51 years) affected with AN admitted in a child psychiatry ward and treated with NGT re-feeding in addition to oral nutrition were included in the study. A 21-item VAS questionnaire was administered at intake (T0), after NGT introduction (T1), after one week of NGT use (T2), and after NGT dismissal (T3) to assess the physical and psychological effects. Participants were also assessed with psychometric measures including personality (TCI), eating psychopathology (EDI-2), general psychopathology (BDI-II, SCL-90-R, and TAS), and family functioning (FAD). The measures were compared between each timepoint with paired t-tests and ANOVA for repeated measures. Pearson correlations were performed between the VAS scores and psychometric measures. Results: From admission to discharge, weight increased by +3.2 kg and BMI by +1.2 kg/m². Items 1, 3, 4, 6, 15, 18, and 20 of the VAS questionnaire items showed significant improvement over time. TCI personality traits, EDI-2 eating and BDI, SCL-90 and TAS general psychopathology, and FAD family functioning were related to NGT perception by the AN adolescents. Conclusions: NGT was helpful in weight progression during inpatient treatment. It was generally well tolerated, with progressive improvement in psychological and physical discomfort during treatment. The meaningful associations with specific psychometric features suggest the possibility to tailor the NGT use based on adolescent characteristics. Multidisciplinary care and tailored psychoeducation may enhance NGT acceptance.

Background: Anorexia nervosa (AN) may require nasogastric tube (NGT) feeding when oral intake is insufficient. Evidence on psychological impact and prognostic correlates of NGT use in adolescents affected with AN is limited.Methods: fifty-seven adolescent inpatients (96.5% female; age range 12–18 years; mean age 15.0± 1.51 years) affected with AN admitted in a child psychiatry ward and treated with NGT renutrition in addition to oral nutrition were included in the study. A 21‑item VAS questionnaire was administered at intake (T0), after NGT introduction (T1), after one week of NGT use (T2) and after NGT dismissal (T3) to assess physical and psychological effects. Participants were also assessed with psychometric measures including personality (TCI), eating psychopathology (EDI‑2), general psychopathology (BDI‑II, SCL‑90‑R, TAS), and family functioning (FAD). The measures were compared between each timepoint with paired t‑tests and ANOVA for repeated measures. Pearson correlations were performed between the VAS scores and psychometric measures.Results: From admission to discharge, weight increased by +3.2 kg and BMI by +1.2 kg/m². Items 1, 3, 4, 6, 15, 18, 20 of the VAS questionnaire items showed significant improvement over time. TCI personality traits, EDI-2 eating and BDI, SCL-90 and TAS general psychopathology, and FAD family functioning were related to NGT perception by the AN adolescents. Conclusions: NGT was helpful in the weight progression during inpatients treatment. It was generally well tolerated, with progressive improvement in psychological and physical discomfort during treatment. The meaningful associations with specific psychometric features suggest the possibility to tailor the NGT use based on adolescent characteristics. Multidisciplinary care and tailored psychoeducation may enhance acceptance.

Increasing awareness of mental health problems, including that of young people, is generally seen as positive, and many interventions to increase awareness are underway internationally. Yet, a principled evaluation of the benefits and harms of increasing awareness is still lacking. Here, we present a conceptual framework for the evaluation of information interventions that are aimed at increasing public awareness of mental health problems. We borrow concepts from dynamic systems, such as infection spread and related population growth, to ask how benefits, but also harms of information on mental health, may accrue over time. We argue that as information spreads, several cascades of events are set off that involve members of the general public but also clinicians and healthcare services. These cascades entail positive and negative feedback loops. We discuss not only how increased diagnoses can lead to positive outcomes (e.g. increasing diagnostic rates and appropriate treatments in those who would otherwise have remained undiagnosed) but also how increased awareness can lead to decreases in diagnostic accuracy, to service overload, and how they may expose people to unnecessary or harmful treatments. We argue that the need for a framework founded on modelling societal dynamics is needed to ensure that both the benefits and the downsides of mental health information are accurately gauged and to help the planning of better public health campaigns.

Despite two decades of intensive investigation, the neurobiological underpinnings of autism spectrum disorder (ASD) defining symptoms remain elusive in large part because ASD represents a highly heterogeneous set of phenotypes, with wide-ranging genetic, neural and behavioural profiles that likely arise from multiple, partially overlapping mechanisms. Among various proposed mechanisms, the “excitation/inhibition (E/I) imbalance hypothesis” has been extensively researched, with substantial although sometimes conflicting evidence. Animal studies show that localised alterations in cortical E/I balance can disrupt network dynamics and reduce long-range connectivity, potentially explaining the weak central coherence that may be observed in ASD. However, neither the E/I imbalance hypothesis nor the weak central coherence hypothesis has provided a fully coherent explanation of ASD’s neurobiology or proved useful in identifying reliable biomarkers. Here, we present a novel integrated hypothesis that unifies these theories, proposing that it is not the global average E/I ratio but rather its spatial heterogeneity across brain regions that may be altered in ASD and that disrupts the integration of brain network activity. To test this hypothesis, in a series of pre-registered analyses, we assessed EEG-derived E/I spatial autocorrelation in children with ASD (n = 248) and in neurotypical controls (n = 105). Our findings indicate significantly lower spatial autocorrelation in children with ASD, suggesting increased E/I variability across regions (estimate: -0.51, 95% CI: -0.69 – -0.33), both in wakefulness (total wakefulness EEGs n = 234; estimate -0.36, 95% CI: -0.63 – -0.081) and sleep EEG (total sleep EEGs n = 304; estimate -0.49, 95% CI: -0.75 – -0.23). Importantly, we validated these results in a large external dataset (ASD n = 230, NT n = 167; estimate: -0.22, 95% CI -0.33 – -0.02) compiled from the National Institute of Mental Health Data Archive (NDA), reinforcing the robustness of our findings. Moreover, when exploring diagnostic accuracy, EEG-based E/I spatial autocorrelation along with sex differentiated ASD from neurotypical status with fair performance (ROC AUC: 0.725, sensitivity: 0.89, specificity: 0.67), highlighting its potential for optimization as a cost-effective screening tool. Overall, these results illuminate a possible neurobiological signature of ASD and suggest that EEG measures of E/I spatial heterogeneity may serve as a viable biomarker for the condition.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and multifactorial etiology, diagnosed on the basis of clinical criteria. Medical comorbidities are common and often lead to instrumental examinations; however, the clinical utility of routinely performing such tests remains uncertain. This study aimed to assess the practical value of instrumental assessments in ASD by examining both prescribing behaviors and the prevalence of abnormal findings in a sample of autistic children. Methods: A combined-method approach was adopted: (1) an online survey of child neuropsychiatrists across the Piedmont region (Italy) explored current attitudes and practices regarding instrumental testing in children with ASD; (2) a retrospective cross-sectional analysis examined the frequency and clinical relevance of abnormal findings in ASD patients who underwent comprehensive testing at a tertiary hospital in Turin. Results: The survey showed that 85.7% of centers follow specific protocols for instrumental examinations, though practices vary considerably. Genetic testing and blood analyses are routinely performed, while EEG, MRI, audiometry, and metabolic screenings are generally based on clinical indication. In the retrospective study, instrumental tests revealed a low rate of clinically significant findings. Clinically relevant genetic abnormalities were detected in 7.9% of CGH-array tests. EEG abnormalities were seen in 9% of cases, though 57% had nonspecific or unclear results. Among biochemical parameters, notable findings included altered lipid profiles (45%), ferritin deficiency (24%), and anemia (12.5%) and no metabolic disorders were identified. Discussion: These findings highlight substantial variability in clinical practice and suggest that while some instrumental tests may provide valuable insights, routine screening is often of limited benefit. The high prevalence of nonspecific findings reinforces the need for careful clinical correlation, emphasizing the importance of balancing comprehensive assessment against the risks of over-testing and challenges in interpreting results. Future research should focus on developing evidence-based guidelines for instrumental assessments in this population.

Background: Anorexia nervosa (AN) remains a severe psychiatric disorder with multifactorial pathogenesis and an uncertain prognosis. It is essential to identify any factors that may contribute to its onset in order to improve the targeting of preventive and therapeutic interventions. The present study explores the characteristics of parents of daughters with AN, comparing those with different ages of onset and ages at intake, in order to identify potential contributing factors from the parental side. Methods: The study recruited 69 adolescents and 56 adults diagnosed with AN, along with 73 healthy controls (HC). The 80 mothers and 69 fathers of the participants were compared to controls in terms of the age of onset and age at intake of their daughters. Self-administered instruments were used to assess personality (TCI), eating behaviors (EDI-2), general psychopathology (BDI), and family functioning (FAD). Results: The analysis revealed that several personality and psychopathological traits distinguished the parents of AN participants from the HC group in both conditions. Both mothers of adolescent- and adult-onset AN participants with any age at intake displayed greater harm avoidance and lower self-directedness facets, as well as greater inadequacy and social insecurity than controls. Fathers were less disordered and more self-indulgent and compassionate, but lower in role definition. Specifically, mothers of daughters with adolescent-onset AN and younger age at intake were more prone to depression. In contrast, mothers of daughters with an adult age at intake showed lower resourcefulness and higher levels of perceived inadequacy. Conclusions: Higher resourcefulness and a lower sense of ineffectiveness may help mothers facilitate earlier therapeutic intervention for their daughters. On the other hand, maternal depressive symptoms may play a significant role in the earlier onset of and intake for AN in their daughters. Supporting assertive qualities in mothers through preventive interventions is recommended, while maternal depression should be appropriately treated to prevent an early psychopathological onset in daughters.

Purpose: Anorexia nervosa (AN) is a major concern in adolescents. Attachment problems contribute to its pathogenesis and maintenance. This research explores the relationship between parent–daughter emotional dyssynchrony and the psychopathology of AN daughters. Methods: One hundred and fourteen female adolescents with AN and their parents participated in this study. The daughters completed the youth self-report (YSR) and other self-report measures of personality, eating, and general psychopathology. The parents completed the Child Behavior Checklist (CBCL). The YSR and CBCL ratings were compared and the difference was considered a measure of emotional dyssynchrony. Dyssynchrony scores were correlated with daughters’ personality and psychopathology. Results: Mothers scored lower on 15/21 (71%), and fathers scored lower on 11/21 (52%). Mothers scored higher than fathers did in thought problems. Mothers' dyssynchrony was positively related to their daughters' harm avoidance and negatively related to their self-directedness. Both parents' dyssynchrony correlated with their daughters' eating habits and general psychopathology. Dyssynchrony in each psychopathological measure of YSR was positively correlated with specific daughters’ psychopathological traits. Conclusions: Parents' perceptions underestimate the suffering of adolescents with AN. Mothers’ perception was worse than that of fathers, possibly because of greater overinvolvement. Parent–daughter dyssynchrony is largely related to daughters’ psychopathology. This cross-sectional study could not confirm whether dyssynchrony contributed to the onset of AN or follows it. Interventions that promote emotional synchronization may aid in the treatment of adolescents with AN. Level of evidence: III.

Improving teachers’ knowledge and skills in dealing with adolescent suicidality may be important for prevention. We evaluated the feasibility and acceptability of a theatre-based gatekeeper teacher training for adolescent suicide prevention (SPES project). Self-reported changes in knowledge and self-efficacy were also investigated. Based on a quasi-experimental repeated measures design, secondary schools were invited to participate in one of two intervention groups (theatre workshop or attending a theatre performance) or a control group (no intervention). Assessments were conducted prior to the intervention, shortly following it and 3 months later. Attendance and retention were indicators of feasibility. Knowledge and self-efficacy were assessed longitudinally using anonymous questionnaires. Data were analyzed using linear mixed models. 191 teachers (84.3% women; Mage = 46.8, SD = 9.8) participated in the study (63 workshop, 66 performance and 62 control group). Attendance was 92% in the workshop group and 94% in the performance group. The retention rate after three months was 51% in the workshop group and 53% in the performance group. Teachers in both groups reported greater knowledge of adolescent suicide (p < 0.001) and higher gatekeeper self-efficacy (p < 0.05) than the control group. The SPES project was found to be feasible and acceptable. Both the workshop and the performance viewing may improve teachers’ knowledge and self-efficacy in recognizing signs of suicide risk in adolescents.