Search

Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking. This study aimed to investigate the presence of sleep-related behaviors potentially suggestive of a sleep disorder in a cohort of pediatric patients with KS, in comparison with a group of healthy male age-matched controls. During the period from January to December 2023, a validated sleep questionnaire (Sleep Disturbance Scale for Children: SDSC) was administered to the primary caregivers of 80 children with KS: 40 of preschool age (3-5 years) and 40 of school age (6-16 years). Data were compared with a control group of 180 healthy age-matched male children: 90 of preschool age (3-5 years) and 90 of school age (6-16 years). Among preschoolers, the proportion of subjects with pathological non-restorative sleep T-scores was significantly higher in the KS group compared to controls (p = 0.03). In both KS and control groups, school-aged subjects had higher questionnaire scores compared to preschoolers. The school age KS group had significantly higher mean total T-scores and mean T-scores for disorders of initiating and maintaining sleep (DIMS), disorders of arousal (DA), and disorders of excessive somnolence (DOES) compared to controls (p < 0.01 for all). The KS group also showed significantly higher percentages of children with clinically relevant T-scores for DIMS, DA, DOES, sleep hyperhidrosis, and total T-scores., Conclusion: Our study indicates that sleep disorders are more prevalent in children with KS than in the general population, especially in the school age group. Screening for sleep issues in the clinical setting using tools like the SDSC is warranted, and should start from age 6 for children with KS. Further research is needed to better understand the origins of these disturbances, the role of comorbidities, and their long-term effects to improve diagnosis and treatment strategies for these patients., What Is Known: • Neurocognitive and psychosocial disorders can be observed in individuals with KS. • Sleep disorders may be associated with various neuropsychiatric conditions; however, they have not been sufficiently explored in individuals with KS, particularly in pediatric populations., What Is New: • Sleep-related problems are more common in children with KS compared to the general population, especially in the school age group with regard to DIMS, DA, and DOES factors. • Starting from 6 years of age, the SDSC might be a promising early diagnostic tool for sleep disorders in children with KS., Competing Interests: Declarations. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Sapienza University of Rome (Ref. 5825). Consent to participate: Written informed consent was obtained from the parents. Consent for publication: There is no identifiable data in the manuscript requiring specific consent for the current publication. Competing interests: The authors declare no competing interests., (© 2025. The Author(s).)

Background and Hypothesis: Suicide and suicidal behaviour are among the most frequent and serious complications in severe mental disorders, especially in the developmental years. From the early stages of psychosis, i.e., in ultra high risk (UHR) and first psychotic episode (FEP) subjects, the suicide risk (SR) is higher than in the general population. Therefore, assessing suicidal thoughts during the high psychotic risk period is extremely important. This study aims to assess SR in a group of UHR adolescents compared to FEP and clinical help-seeking controls (CHSC) peers., Study Design: 95 adolescents (13-18 years) were evaluated through psychopathological interviews and self-report questionnaires to assess UHR, FEP or CHSC condition, clinical suicidal behaviour and suicide thoughts, global functioning, self-disorders, and other psychiatric comorbidities., Study Results: We identified 17 FEP, 33 UHR, and 45 CHSC. 54.7% of the total sample is at SR, identified in 70.6% of FEP subjects, 81.8% of UHR subjects and 28.9% of CHSC patients. Furthermore, SR correlated with positive symptoms (p = 0.013), negative symptoms (p = 0.032), general symptoms (p = 0.009), and global functioning (p < 0.001) as well as with the total EASE score (p < 0.001). An increasing rate of self-disorders was associated with an increased likelihood of SR., Conclusions: Monitoring UHR adolescents not only for psychotic onset but also for SR is crucial due to their higher suicidality and worse prognosis. Rigorous management and monitoring can enable more targeted interventions and suicide prevention strategies., (© 2024 John Wiley & Sons Australia, Ltd.)

Background: Multiple complex developmental disorder (MCDD) manifests as early-onset impairment across different domains. Although it could appear as a transitional condition between autism and childhood-onset schizophrenia, interest in MCDD has progressively waned. This study attempts to discern MCDD current relevance to avoid "throwing the baby out with the bathwater" too fast., Methods: All available studies published up to January 2024 were retrieved and evaluated following on the PRISMA guidelines for systematic reviews using the term "multiple complex developmental disorder" or "MCDD", without any filter for study design nor year of publication., Results: Only 16 studies were included and analyzed. Overall, a variable heterogeneity was observed in terms of country of investigation, study design, and clinical groups. Most of the included studies explored the construct of MCDD in developmental age, comparing MCDD mostly with autistic patients, and observing how the former group had higher levels of paranoia, illusions, and psychotic thoughts, whereas the latter showed more frequently difficulties in social interactions and stereotypical behaviors., Conclusion: Overall, these results showed how progressive changes in diagnostic criteria over time led MCDD to be abandoned as nosographic construct, leaving perhaps a diagnostic void between autism and psychotic disorders that needs to be further studied. A systematic review on the Multiple Complex Developmental Disorder (MCDD): a forgotten diagnosis between autism and schizophrenia., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

The Japanese term Hikikomori is used to describe a clinical condition in which young people present a prolonged social withdrawal and isolation. Hikikomori syndrome represents an emergent worldwide phenomenon but is still poorly reported and often misdiagnosed. This study investigates and describes an Italian hikikomori adolescent group. Socio-demographic and psychopathological profiles and the relationship between hikikomori and psychopathological conditions were analyzed. No gender difference, a medium-high intellectual level, and no correlation with socioeconomic status were highlighted among the clinical group. The relationship between social withdrawal and social anxiety was significant while no correlation was found with depressive symptoms. The presence of Hikikomori syndrome was also significant in Italian adolescents, suggesting that hikikomori is not a culture-bound syndrome related to the Japanese cultural context, but rather a syndrome occurring in the upper-medium class., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatric and adolescent age is still limited. This critical phase, decisive for KS children, is influenced by a combination of genetic, environmental and familial factors, which impact brain plasticity. In this report, we reviewed, in a narrative form, the crucial KS psychopathological hallmarks in children. To better describe neuroendocrine and neuropsychiatric outcomes in children with KS, we presented the case of an 11-year-old prepubertal child with mosaic KS who was referred to our Center of Developmental Psychopathology due to a decline in his academic performance, excessive daytime fatigue and increased distractibility over the past few months. Family history revealed psychiatric conditions among first- and second-degree relatives, including recently divorced parents and a 15-year-old sister. Early-onset persistent depressive disorder and anxious traits were diagnosed. Timely identification of susceptible children, with thorough examination of familial psychiatric history, environmental influences and neurocognitive profile, alongside targeted interventions, could potentially mitigate lifelong psychopathology-related disabilities in pediatric and adolescent KS cases, including those with mosaic KS.

Introduction: Irritability represents a transdiagnostic symptom in youths, which can become a predictor of long-term psychosocial adversity. Yet, few tools investigate this symptom in childhood. The aim of this study was to evaluate the psychometric properties of the CL-ARI in an Italian population, analyzing the correlations between irritability and other pathological constructs., Materials and Methods: A cross-sectional study was carried out in a Child Neuropsychiatry Unit in Rome. A transdiagnostic sample of 67 youths aged 7-17 years, which underwent to a psychodiagnostic evaluation, was administered by a clinician with the translated version of the CL-ARI, along with tools exploring irritability and other constructs (depressive symptoms, anxiety, global impairment in functioning)., Results: The most frequent diagnosis obtained by the psychodiagnostic evaluation was anxiety disorder, followed by disruptive mood dysregulation disorder (DMDD) and no diagnosis. Cronbach's alpha values revealed good internal consistency for the total score (0.86), as well as for the score of each subscale of the tool (0.81 for temper outbursts, 0.89 for irritable mood, 0.71 for impairment). Test-retest reliability showed excellent values (ICC 0.89 to 0.98), and criterion validity exhibited good correlation among the sub-scales and between each sub-scale and the total score. Finally, positive correlations were found between total scores of the parent and the child interview, and between the CL-ARI, the measure of DMDD severity (CGI) and of depressive symptoms (CDI 2)., Conclusions: These data confirmed that the CL-ARI is a promising tool designed to intercept irritability, with good psychometric properties. Further research on the assessment of irritability is critical and thus encouraged.

Introduction: The relationship between maladaptive perfectionism and Internalizing (ID) and Externalizing Disorders (ED) in children needs to be better understood, along with the intergenerational transmission of these traits from parents to children. The present work aimed to share light on both these issues., Method: 39 children with ID, 19 with ED, and their parents were recruited*. The Multidimensional Perfectionism Scale, the Big Five Inventory, the Child and Adolescent Perfectionism Scale, and the Hierarchical Personality Inventory for Children were used. The association between parent personality and perfectionism traits and children's perfectionism dimensions was evaluated through hierarchical regression analysis., Results: ID and ED groups did not differ significantly concerning perfectionism. Fathers presented higher scores than mothers in Self-Oriented Perfectionism, Other-Oriented Perfectionism, and Socially-Prescribed Perfectionism. Parents of children with ID report higher levels of Obedience in their children, while parents of children with ED reported higher levels of Creativity and Perseverance. Significant associations were found between perfectionism in parents and their children, as well as between perfectionism and the personality of children., Conclusion: Results suggest a transdiagnostic nature of Perfectionism and support the transgenerational transmission of the personality traits investigated.

We conducted a literature review aimed at identifying the origins of shame as well as its effects on moral development, especially in terms of behavioral outcomes, and we reflected on the practical implications of our findings. We explored the role of shame in moral development through cultural differences and parental influences, collecting evidence of psychopathological consequences of primary moral emotion dysregulation. These studies showed a dichotomous feature of shame, as a prosocial behavior enhancer in morally relevant situations and, simultaneously, a risk factor for aggressive and antisocial behaviors on other occasions. Dysregulated shame leads to maladaptive interpersonal behaviors, which could evolve towards psychopathological paths. Therefore, an integrated intervention is recommended in children with emotional/behavioral problems.

Objective: Irritability is an important theme in paediatric psychiatry considering its high frequency in developmental age, its association with negative outcomes and consequently significant public health impact. Present as main or associated feature of several psychiatric diagnoses, irritability represents a challenge for clinicians who try to understand its origin and role in developmental psychopathology. In this review we try to: (1) get an overview of this dimension and its relationship with each of the main neuropsychiatric disorders in paediatric population and (2) provide a summary of currently available instruments to assess irritability in children and adolescents., Method: In this narrative review, an overview of irritability in children and adolescents is proposed focusing on selected literature., Results: Irritability as feature of many paediatric psychiatric conditions has been evaluated by many authors and included in classifications of paediatric psychiatric diseases. Framework of irritability evolved over time and dimension of irritability has been investigated using different tools and methodologies, both qualitative and quantitative. Metrics of irritability as clinical dimension are important in the diagnostic process of paediatric diseases., Conclusion: Investigating the presence of irritability in all children with related disorders is mandatory if we consider the risk for functional impairment and affective and behavioural disorders associated with high levels of irritability. Using rigid threshold in developmental age to differentiate physiological from pathological irritability could lead many children having subthreshold levels of irritability to receive no diagnosis and, consequently, no treatment where instead a dimensional approach to irritability could allow to identify prodromal phase and prevent the evolution towards clinical pathological expressions.

Probing the local transport properties of two-dimensional electron systems (2DES) confined at buried interfaces requires a non-invasive technique with a high spatial resolution operating in a broad temperature range. In this paper, we investigate the scattering-type scanning near field optical microscopy as a tool for studying the conducting LaAlO 3 /SrTiO 3 interface from room temperature down to 6 K. We show that the near-field optical signal, in particular its phase component, is highly sensitive to the transport properties of the electron system present at the interface. Our modeling reveals that such sensitivity originates from the interaction of the AFM tip with coupled plasmon-phonon modes with a small penetration depth. The model allows us to quantitatively correlate changes in the optical signal with the variation of the 2DES transport properties induced by cooling and by electrostatic gating. To probe the spatial resolution of the technique, we image conducting nano-channels written in insulating heterostructures with a voltage-biased tip of an atomic force microscope.

Factitious Disorder Imposed on Another (FDIA), also known as Munchausen Syndrome by Proxy (MSbP) is a very serious form of child abuse. The perpetrator, usually the mother, invents symptoms or causes real ones in order to make her child appear sick. Usually this is due to a maladaptive disorder or to an excessive of attention-seeking on her part. We report here two new cases of FDIA. The first one is a 9-year-old boy with a history of convulsive episodes, reduced verbal production, mild psychomotor disorder and urological problems who underwent several invasive procedures and hospitalizations before a diagnosis of FDIA was made. The second is a 12 year-old girl with headache, abdominal pain, lipothymic episodes, seizures and a gait impairment, who was hospitalized in several hospitals before an FDIA was diagnosed.