Maria Nobile

IRCCS Eugenio Medea · Child Psychiatry Department

Trofinetide is a first-in-class pharmacological treatment proposed for patients with Rett Syndrome. It is a long half-life derivative of glycine-proline-glutamate, the tripeptide normally excided from Insulin-like Growth Factor 1 upon degradation. Due to containing glutamate and glycine in its structure, trofinetide is thought to act through NMDA r...

Background Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying...

Along with the core characteristics of the condition, autistic individuals commonly experience motor coordination difficulties, potentially related to a reduced cortical connectivity. Being the largest human commissure, the corpus callosum (CC) plays an essential role in interhemispheric connectivity and has been often involved among autistic atypi...

Deficits in theory of mind (ToM), known as the ability to understand the other’s mind, have been associated with several psychopathological outcomes. The present systematic review aims to summarize the results of genetic studies that investigated gene polymorphisms associated with mentalization performance tasks in children and adults. The systemat...

Introduction The RISKMet project aims to: (1) identify risk factors for metabolic syndrome (MetS) by comparing patients with and without MetS; (2) characterise patients treated with second-generation antipsychotics (SGAs) about MetS diagnosis; (3) study behavioural patterns, including physical activity (PA) and dietary habits, in patients and healt...

Background The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services. While several studies have investigated mental health, distress and psychosocial resources in the general population during the pandemic, little is known about the experienc...

Background: Duchenne Muscular Dystrophy (DMD) is a genetic disease in which lack of the dystrophin protein causes progressive muscular weakness, cardiomyopathy and respiratory insufficiency. DMD is often associated with other cognitive and behavioral impairments, however the correlation of abnormal dystrophin expression in the central nervous syste...

Prenatal and perinatal complications represent well-known risk factors for the future development of psychiatric disorders. Such influence might become manifested during childhood and adolescence, as key periods for brain and behavioral changes. Internalizing and externalizing behaviors in adolescence have been associated with the risk of psychiatr...

BACKGROUND Child and adolescent psychopathology diagnosis involves a multifaceted approach, which integrates clinical observations, behavioral assessments, medical history, cognitive testing, and familial context information. Digital technologies, including online platforms for administering caregiver-rated questionnaires, are increasingly utilized...

Background Diagnosis of child and adolescent psychopathologies involves a multifaceted approach, integrating clinical observations, behavioral assessments, medical history, cognitive testing, and familial context information. Digital technologies, especially internet-based platforms for administering caregiver-rated questionnaires, are increasingly...

Although heritability estimates suggest a role for genetic components, environmental risk factors have been described as relevant in the etiology of attention deficit/hyperactivity disorder (ADHD). Several studies have investigated the role of toxicological pollution, i.e., air pollution, heavy metals, POPs, and phthalates. Clear evidence for assoc...

Cognitively impaired and spared patient subgroups were identified in psychosis and depression, and in clinical high-risk for psychosis (CHR). Studies suggest differences in underlying brain structural and functional characteristics. It is unclear whether cognitive subgroups are transdiagnostic phenomena in early stages of psychotic and affective di...

It is still unclear whether and to what extent the motor difficulties are specific to autism. This study aimed to determine whether a multimodal assessment of motor skills could accurately discriminate autistic children from attention-deficit/hyperactivity disorder (ADHD) and typically developing (TD) peers. Seventy-five children, aged 7-13, equall...

Introduction Metformin has shown good efficacy in the management of antipsychotic-induced metabolic syndrome (MetS) in patients with schizophrenia or schizoaffective disorders. Its ability to induce antidepressant behavioural effects and improve cognitive functions has also been investigated: yet information has not been systematized. The aim of th...

Pre- and peri-natal complications represent well-known risk factors for the future development of psychiatric disorders. Such influence might become manifested during childhood and adolescence, as key periods for brain and behavioral changes. Internalizing and externalizing behaviors in adolescence have been associated with the risk of psychiatric...

Objective: To summarize the available evidence on metabolic parameters indicating metabolic adverse effects and risk of metabolic syndrome in children and adolescents treated with antipsychotics, following a pre-specified protocol (PROSPERO ID 252336). Method: We searched PubMed, Embase and PsycINFO until May 14, 2021, to identify systematic rev...

Early motor difficulties are a common in many, but not all, autistic individuals. These difficulties tend to be highly present in individuals carrying rare genetic mutations with high penetrance for autism. Many of these rare genetic mechanisms also cause neurophysiological dysregulation of excitation-inhibition balance (E:I). A predicted downstrea...

The brain’s intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows complex inter-individual variability, consolidated during development. Nevertheless, the role of gene and environment on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an optimal platform...

Although heritability estimates suggest a role for genetic components, environmental risk factors have been described as relevant in the etiology of attention deficit/hyperactivity disorder (ADHD). Over the last years several studies have investigated the role of toxicological pollution, i.e. the potential in ADHD role of chemical environmental ris...

Background: Growing evidence supports a bidirectional association between diabetes and depression; promising but limited and conflicting data from human studies support the intriguing possibility that antidiabetic agents may be used to relieve effectively depressive symptoms in diabetic patients. We investigated the potential antidepressant effects...

Recently, there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to collect remotely case histories and demographic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information parents and teachers provide through online questionnaires...

Introduction Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders with overactivity, inattention, and impulsivity as core characteristics. Recent studies suggest that 20 % of children with ADHD also develop eating disorders (EDs), including anorexia nervosa, bulimia nervosa and binge eating disorder...

Introduction: Impulse control disorders (e.g., pathological gambling, hypersexuality) may develop as adverse reactions to drugs. Pathogenetic hypotheses have mainly focused on D3-receptor agonism, and switching to alternatives with different pharmacologic mechanisms represents a common management strategy. Nonetheless, treatment failure is common...

Introduction The co-occurrence between major depression disorder (MDD) and conduct disorder (CD) is common across development and represents a significant risk factor for future psychiatric problems and long-term impairment. Large-scale quantitative genetic studies suggest that the MDD-CD co-occurrence may be partly explained by shared genetic vuln...

The brain intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows a complex inter-individual variability, consolidated during development. Nevertheless, the role of genetic and environmental factors on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an opt...

Introduction Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by lack of self-regulation and deficits in organizing behaviors in response to emotional stimuli. Methylphenidate (MPH) is one of the most effective psychostimulant drugs for ADHD, however, a possible predictive utility of brain hemodynamic d...

Introduction Attention Deficit / Hyperactivity Disorder (ADHD) is a highly prevalent neurodevelopmental condition characterized by inattention, motor hyperactivity and impulsivity. ADHD cognitive and behavioral presentation is characterized by a high heterogeneity (APA, 2013). Indeed, a complex diagnostic process, that considers several validated t...

Emotional dysregulation (ED) is a dimensional, transdiagnostic domain that is associated with multiple categorical psychiatric diagnoses from childhood to adulthood, representing a risk for increased problems in affect, behavior, and cognition [1]. Traditionally, the nature of ED trait has been studied with top down approaches: quantitative evaluat...

Importance: The behavioral and cognitive symptoms of severe psychotic disorders overlap with those seen in dementia. However, shared brain alterations remain disputed, and their relevance for patients in at-risk disease stages has not been explored so far. Objective: To use machine learning to compare the expression of structural magnetic resona...

Subtle subjective visual dysfunctions (VisDys) are reported by about 50% of patients with schizophrenia and are suggested to predict psychosis states. Deeper insight into VisDys, particularly in early psychosis states, could foster the understanding of basic disease mechanisms mediating susceptibility to psychosis, and thereby inform preventive int...

Recently there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to remotely collect anamnestic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information provided by parents and teachers through online questionnaires overlaps with cli...

Aim: to characterize pediatric cases of antibiotic-associated neutropenia through a multidisciplinary approach, focusing on the temporal association between the wide spectrum of treatment options and the occurrence of this relatively uncommon but potentially clinically relevant adverse event. Methods: we carried out a pharmacoepidemiological analys...

Recently there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to remotely collect anamnestic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information provided by parents and teachers through online questionnaires overlaps with cli...

Mental imagery is part of people's own internal processing and plays an important role in everyday life, cognition and pathology. The neural network supporting mental imagery is bottom‐up modulated by the imagery content. Here, we examined the complex associations of gender and age with the neural mechanisms underlying emotion imagery. We assessed...

Background/Objective Emotional dysregulation (ED) is a dimensional psychological domain, previously operationalized by instruments of the Achenbach System of Empirically Based Assessment (ASEBA) for children and adolescents; however, its cross-cultural and bottom-up characteristics among adult populations are still unknown. Method We examined scor...

Antipsychotics increase weight, BMI and waist size, particularly in pediatric patients. Switching antipsychotics is common practice, thus defining the risk for each antipsychotic in real-life settings can be important for clinical guidance. We conducted a meta-analysis on antipsychotic-related changes in body measures in pediatric observational stu...

Children and young people with neurodevelopmental disorders seem to be more susceptible to developing obesity and eating disorders. To prevent this, therapeutic programs including nutritional education are, therefore, needed. Serious games (SGs) represent a promising solution to improve adherence to the treatment in different populations, including...

Background There is evidence that social impairments in Cornelia de Lange Syndrome (CdLS) differ from those observed in idiopathic autism as they are characterized mainly by social anxiety. However, the knowledge of the fundamental features of social anxiety symptoms in this target population is limited. This brief systematic review aims to investi...

Individual responses to methylphenidate (MPH) can significantly differ in children with attention-deficit/hyperactivity disorder (ADHD) in terms of the extent of clinical amelioration, optimal dosage needed, possible side effects, and short- and long-term duration of the benefits. In the present repeated-measures observational study, we undertook a...

This study aims to investigate the genetic and neural determinants of attention and hyperactivity problems. Using a proof-of-concept imaging genetics mediation design, we explore the relationship between the glutamatergic GRIN2B gene variants and inattention/hyperactivity with neuroanatomical measures as intermediates. Fifty-eight children and adol...

Introduction Epigenetics hypothesizes a crucial link between postnatal risk factors, individual response to stress, DNA methylation and psychiatric symptomatology changes during life. Objectives We analyzed methylation within two gene exons: NR3C1 and SLC6A4, which are involved in responses to environmental stressors. We investigated the relations...

Introduction Our 15-years follow-up ReMIND project aims to re-assess an epidemiological and a clinical sample of adults (Wave 3), who were assessed in preadolescence (Wave 1) and adolescence (Wave 2), to evaluate symptoms trajectories and their relationship with genetic/epigenetic data, environmental risk factors and neuroimaging measures. Objecti...

Lay abstract: Motor peculiarities are often reported in children with autism spectrum disorder and may predict subsequent adaptive functioning and quality of life. Although the sex bias in the prevalence of the disorder is well documented, little is known about differences in motor profile in males and females with autism spectrum disorder. Our go...

Background PTSD in youth is more common and debilitating than it was previously thought. This untreated condition is highly correlated to critical mental health condition, such as depression, anxiety disruptive-behaviours, and substance use disorders. Despite the growing number of studies investigating Eye Movement Desensitization and Reprocessing...

Cannabis use during adolescence is associated with an increased risk of developing psychosis. According to a current hypothesis, this results from detrimental effects of early cannabis use on brain maturation during this vulnerable period. However, studies investigating the interaction between early cannabis use and brain structural alterations hit...

In schizophrenia, neurocognitive subtypes can be distinguished based on cognitive performance and they are associated with neuroanatomical alterations. We investigated the existence of cognitive subtypes in shortly medicated recent onset psychosis patients, their underlying gray matter volume patterns and clinical characteristics. We used a K-means...

Background Glyco-metabolic deteriorations are the most limiting adverse reactions to antipsychotics in the long term. They have been incompletely investigated and the properties of antipsychotics that determine their magnitude are not clarified. To rank antipsychotics by the magnitude of glyco-metabolic alterations and to associate it to their phar...

Background: rumination has been reported as a cognitive vulnerability factor in adolescent and adult depression. The present brief review aimed at summarizing the results of the genetic studies that investigate the candidate genes for rumination in children and adolescents. Methods: bibliographic research was conducted on PubMed and Science Direct...

Organophosphate compounds (OPs) interfere with neurodevelopment and are neurotoxic for humans and animals. They are first biotransformed to the more toxic oxon form, and then hydrolyzed to specific metabolites by the enzyme paraoxonase/arylesterase, encoded by the gene PON1 located on human chr. 7q21.3. In autism spectrum disorder (ASD) and in atte...

Attention-Deficit/Hyperactivity disorder (ADHD) is a ‘lifespan’ neurodevelopmental disorder, which typically manifest early in development, characterized by impaired levels of inattention, disorganization, and/or hyperactivity-impulsivity. These features are pervasive across multiple settings and cause substantial functional impairment of personal,...

In the past decade, converging evidence has suggested that motor impairment is one of the most consistent markers, alongside sociocommunicative difficulties, for autism spectrum disorder (ASD). Indeed, widespread anomalies of movement have been described in the ASD context. These motor abnormalities could have critical implications for subsequent c...

Background Mood disorders are characterized by heterogeneity in severity, symptoms and treatment response. The possibility of selecting the correct therapy on the basis of patient-specific biomarker may be a considerable step towards personalized psychiatry. Machine learning methods are gaining increasing popularity in the medical field. Once train...

Introduction: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder affecting up to 5.29% of children and 2.5% of adults depending on the country considered. Current pharmacological treatments for ADHD are based on stimulant or non-stimulant medications, targeting dopaminergic and noradrenergic systems in the frontal cor...

Background Children with attention deficit hyperactivity disorder (ADHD) exhibit behavioral inhibition deficits, which often lead to emotional dysregulation (ED) affecting individual ability to control emotions and behavioral responses. In ADHD, ED is associated with poor outcomes and comorbidities, with both externalizing and internalizing disorde...

Background: Increasing evidence suggests a complex role of family influences, such as the exposure to parent psychopathology through parenting behavior, in parent-to-child psychopathology transmission. Parenting behaviour could represent a relevant target of psychoeducative intervention. Given these premises, we aimed to evaluate homotypic and het...

Background Living with a progressive disease as muscular dystrophy (MD) can be challenging for the patient and the entire family from both emotional and practical point of view. We aimed to extend our previously published data about mental health in patients with MDs, also investigating coping profiles of both themselves and their parents. Furtherm...

Background Deficits in emotional processing and, in particular, in emotional self-regulation represent non-specific risk factors for transdiagnostic poor outcomes. Researches have been focusing on the investigation of possible emotional processing and regulation biomarkers. The present brief review of the literature aims to evaluate whether NIRS si...

Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children and adolescents, with environmental and biological causal influences. Pharmacological medication is the first choice in ADHD treatment; recently, many studies have concentrated on dietary supplementation approaches to address nutritional deficiencies...

Background Bullying as a specific subtype of adverse life events is a major risk factor for poor mental health. Although many questionnaires on bullying are available, so far none covers bullying retrospectively throughout school and working life. To close this gap, the Bullying Scale for Adults (BSA) was designed. Methods Based on data of 622 par...

This single-arm, open-label study aimed to investigate the efficacy of a cognitive-behavioural group training based on acceptance and commitment therapy (ACT) on cognition in drug-naïve children with attention deficit hyperactivity disorder (ADHD). Thirty-six children with ADHD aged 8-13 were invited to participate in the 9-month ACT training progr...

Objective The aim of the present study is evaluate the effectiveness of an Acceptance and Commitment Therapy (ACT)-based training protocol, in adjunct to token economy and previous parent training, in a sample of children with Attention-Deficit/Hyperactivity Disorder (ADHD). By promoting the reduction of immediate responses to thoughts and feelings...

[This corrects the article DOI: 10.3389/fpsyt.2019.00763.].