Luigi Mazzone

Ospedale Pediatrico Bambino Gesù | Bambino Gesù

Study objectives: Sleep disorders are a frequent comorbidity among children with autism spectrum disorder (ASD). Among sleep-related issues of ASD, restless sleep is a common complaint. In recent years, restless sleep disorder (RSD) has been proposed as a new clinical entity, characterized by agitated sleep as its predominant manifestation. Despit...

Precision medicine is imminent, and metabolomics is one of the main actors on stage. We summarize and discuss the current literature on the clinical application of metabolomic techniques as a possible tool to improve early diagnosis of autism spectrum disorder (ASD), to define clinical phenotypes and to identify co-occurring medical conditions. A r...

Multiple Sclerosis (MS) can have an onset before the age of 16 years in 3-10% of cases. When onset occurs at such a young age, the clinical or neuro-radiological features of MS may be different from MS in adult patients. We report the case of a 17-year-old girl with an onset of MS characterized by psychotic symptoms. This pattern of clinical presen...

Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused in the 90% of cases by pathogenetic variants of the Nuclear receptor binding SET Domain protein1 (NSD1) gene. NSD1 gene functions can be abrogated by different genetic alterations (i.e., small intragenic pathogenic variants like deletions...

Migraine is a complex neurological disorder with partially unknown pathophysiological mechanisms. The prevalence in childhood ranges from 7.7% to 17.8%, thus representing the most frequent primary headache. In half of the cases, migraine is accompanied or preceded by various neurological disturbances, among which the visual aura is the best known....

Background: COVID-19 pandemic has drastically increased the exposure to electronic devices in children, influencing their lifestyle and their sleep. This study was conducted to explore the relationship between the augmented screen exposure and sleep habits in children during and after the pandemic. Methods: Using the "Google Forms" tool, we crea...

Citation: Narzisi, A.; Alcantud-Marin, F.; Alonso-Esteban, Y.; Battini, R.; Cantiani, C.; Conti, E.; Fusar-Poli, L.; Lecciso, F.; Levante, A.; Mazzone, L.; et al. Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications. Brain Sci. 2023, 13, 269. https:// The Special Issue (SI) "Autism and Neurodevelopmental Disorders: The SARS...

Background: Putative pathogenic effects mediated by human endogenous retroviruses (HERVs) in neurological and psychiatric disorders in humans have been extensively described. HERVs may alter the development of the brain by means of several mechanisms, including modulation of gene expression, alteration of DNA stability, and activation of immune sy...

Multiple studies support the relationship between ADHD and overweight/obesity in youth. Different mechanisms may be involved, such as temperamental and psychopathological factors. The aim of this study was to test the hypothesis that specific temperamental and psychopathological dimensions could mediate the relationship between ADHD and obesity. Th...

Multiple Sclerosis (MS) is a chronic pathological condition representing one of the main causes of neurological disability in the female young population. MS, as an immune disorder, could impact fetus development, and, considering the need for and the possibility of pharmacological treatment during pregnancy, the possible influence of medication on...

Psychosis can occur at high rates in individuals with autism spectrum disorder (ASD). However, the detection of prodromal psychotic symptoms, including attenuated psychosis syndrome (APS), conditions at high risk of converting to full psychosis, has not been extensively investigated in ASD. We longitudinally evaluate a sample of young ASD individua...

Developmental level and cognitive skills assessment represents a crucial aspect in the delineation of the clinical phenotype and long-term outcomes of individuals with autism spectrum disorder (ASD). Nevertheless, the evaluation of cognitive development trajectory across a lifespan ranging from birth to school age appears challenging for clinicians...

The KCNQ2 gene, encoding for the Kv7.2 subunits of the Kv7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopment...

Background and objective Tuberous Sclerosis Complex (TSC) is a rare systemic disease with a high prevalence of sleep disorders (SD), although they are still largely under-recognized. The objective of this study was to assess the prevalence of SD in adult patients with TSC, and to evaluate the relationship between sleep, epilepsy and TSC associated...

There is strong evidence for the existence of a high comorbidity between autism and psychosis with percentages reaching up to 34. 8% and several significant implications for treatment and prognosis of these patients. However, the identification of comorbid psychosis in patients with Autism Spectrum Disorder represents a complex challenge from a psy...

Disrupted sleep is a common complaint among children with autistic spectrum disorder (ASD). Disturbed sleep can be explained in three ways in this population—shared neurocircuitry and pathophysiological mechanisms, as a core symptom of the autistic spectrum disorder and thirdly, an effect of comorbid psychiatric disorder. A number of studies have s...

Migraine is the first in order of frequency of the neurological disorders, affecting both adult and paediatric populations. It is also the first cause of primary headaches in children. Migraine equivalents are periodic disorders that can be associated with migraine or considered as prognostic features of a future migraine manifestation. Despite the...

The latest research is attempting to define whether there may be an association between maternal Perinatal Depression (PD), the use of psychotropic medications during pregnancy, and a higher risk of neurodevelopmental disorders in children, including Autism Spectrum Disorder (ASD). A better understanding of the relation between PD and ASD is a key...

High Intellectual Potential (HIP) and High Functioning Autism (HFA) are two different conditions sharing some clinical and neurobiological features. The aim of the present study was to characterize a sample of HIP children (n: 16; M/F: 14/2; median age: 10 years) in comparison to those with HFA (n: 17; M/F: 16/1; median age: 13 years) and to neurot...

Objective and Background Sleep disorders (SD) are very common in childhood, especially in certain genetic syndromes. Tuberous Sclerosis Complex (TSC) is a genetic syndromesassociated with a high rate of SD, although these are still under-recognized. The aim of this study was to assess the prevalence of SD in TSC, and to evaluate the relationship be...

Parenting a child with a disability, such as neurodevelopmental disorders and genetic syndromes, implies a high level of stress. During the COVID-19 outbreak—as a period implying additional challenges—few studies have specifically investigated caregivers’ distress among neurodevelopmental disabilities. The objective of the study is to investigate w...

Sex differences in restricted and repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD) have been explored with mixed findings. We aimed to investigate sex differences in RRBs through a specific measure-i.e., the Repetitive Behavior Scale Revised (RBS-R)-in a sample of preschool-age and school-age children with ASD. Additio...

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study invest...

Autism diagnosis is moving from the identification of common inherited genetic variants to a systems biology approach. The aims of the study were to explore metabolic perturbations in autism, to investigate whether the severity of autism core symptoms may be associated with specific metabolic signatures; and to examine whether the urine metabolome...

The present study investigates differences in the auditory mismatch negativity (MMN) parameters given in a sample of young subjects with Autism Spectrum Disorder (ASD, n:37) with or without co-occurent Attenuated Psychosis Syndrome (APS). Our results show that ASD individuals present an MMN decreased amplitude and prolonged latency, without being i...

Autism diagnosis is moving from the identification of common inherited genetic variants to a system biology approach. The aims of the study were to explore metabolic perturbations in autism; to investigate whether the severity of autism core symptoms may be associated with specific metabolic signatures; and to examine whether the urine metabolome d...

Vitamin D is a neurosteroid hormone crucially involved in neurodevelopment. Neural cell proliferation, neurotransmission, oxidative stress and immune function represent the main mechanisms mediated by vitamin D in the Central Nervous System. Therefore, its deficiency during pregnancy and early childhood may significantly impact on a developing brai...

Objectives: Attention deficit/hyperactivity disorder (ADHD) and anxiety disorders are among the most common psychiatric disorders with a 25% comorbidity rate with each other. In this study, we overview the comorbidity between ADHD and anxiety disorders in a longitudinal perspective across the lifespan and we discuss possible therapeutic strategies....

Background Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome. Case presentation We...

Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a well-established risk factor, several data support a contribution of t...

Background: Recent studies have examined the association between autism spectrum disorder and schizophrenia spectrum disorders, describing a number of cognitive features common to both conditions (e.g., weak central coherence, difficulties in set-shifting, impairment in theory of mind). Several studies have reported high levels of autistic symptoms...

Children with Autism Spectrum Disorders are a group of neurodevelopmental disorders (ASD) and compared to Typically Developing Children (TDC), experience significantly more feeding problems. Food selectivity is a complex phenomenon that involves individual and contextual factors (sensory abnormalities, severity of behavioral problems, gastrointesti...

Sexuality is a central dimension of a person’s physical and psychological development, and it plays a fundamental role in shaping the individual’s self-identity. Although individuals with autism spectrum disorder (ASD) experience the same aspects of sexual life (e.g., needs, desires, sex driven) as their peers, core symptoms of autism (i.e., defici...

Children with Autism Spectrum Disorder (ASD) are at an increased risk for sleep disturbances, and studies indicate that between 50 and 80% of children with ASD experience sleep problems. These problems increase parental stress and adversely affect family quality of life. Studies have also suggested that sleep disturbances may increase behavioral pr...

Purpose of review: This review aims to synthesize the most recent research on anxiety disorders and obsessive-compulsive disorder (OCD) in individuals with autism spectrum disorder (ASD) and discuss the relationship between these conditions and challenges for assessment. Furthermore, implications for treatment and future directions are discussed....

Vitality form is a term, originally introduced by Stern (2010), to describe “how” an action is performed. The capacity to perceive the vitality form of others’ actions is a fundamental element of social interactions and a basic way of relating to and understanding others’ behaviors. Although vitality forms characterize all human interactions, few s...

Several researchers along with technicians have been developing software and hardware to support and/or replace the standard method of teaching for children with autism spectrum disorders (ASDs) and/or other developmental disabilities. Moreover, computer-based intervention and electronic tablets have shown benefits for people with special needs inc...

Recent advances in molecular genetics and preclinical studies of tuberous sclerosis complex (TSC) have helped to better understand the pathophysiology of TSC-related autism spectrum disorder (ASD). Furthermore, developmental studies have shown that infants with TSC begin to diverge from the neurotypical trajectories at the age of 6 months. Early ab...

This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive–compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups. O...

Introduction Suicide is a leading cause of death among adolescents. Objectives To investigate suicidal behaviors among Italian adolescents. Aims To assess the rates of suicidal ideation (SI) and suicide attempts (SA) and the associated risk factors in patients admitted to emergency department (ED) of the Bambino Gesù Children's Hospital. Methods...

Introduction Romantic and sexual functioning in individuals with autism spectrum disorder (ASD) are understudied. Recent findings evidenced that adolescents and adults with present romantic and sexual behaviors comparable with their neurotypical peers. However, it is worth to note that dysfunctional and inappropriate romantic and sexual behaviors a...

Pharmacological treatments for core symptoms of Autism Spectrum Disorder (ASD) are still lacking. The clinical heterogeneity observed in this population (e.g., differences in cognitive functioning or in autism symptom severity) should be taken into account when a new drug is tested. Stratifying this population according to its neurobiological subst...

There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functi...

Autism spectrum disorder (ASD) appear to have a dramatic increase over the last twenty years and according to the latest estimates, 1 out of 68 children has been diagnosed with this disorder. In this context, it is crucial to provide clinicians with the most updated information on the genetic, epigenetic, and environmental understanding of ASD, as...

Background: Abnormalities in habituation have been documented in Autism Spectrum Disorder (ASD) and Williams syndrome (WS). Such abnormalities have been proposed to underlie the distinctive social and non-social difficulties that define ASD, including sensory features and repetitive behaviours, and the distinctive social phenotype characterizing W...

Studies published so far have highlighted high rates of association between autism spectrum disorder (ASD) and mood disorders. Data have shown that prevalence rates of co-occurring ASD and mood disorders range from 1.4 % to 70 %. A factor that seems to account this variability is the cognitive ability: high-functioning autism individuals seem more...

It is well known that feeding and eating problems, such as atypical eating behaviors at mealtime, are common in individuals with autism spectrum disorder (ASD). Moreover, it is widely described that girls with a diagnosis of ASD are at greater risk of developing a feeding and eating disorder (FED). Studies published so far have reported highly vari...

This book explains in detail the diagnosis, management, and treatment of comorbid disorders in patients with autism spectrum disorders (ASD). Important insights are provided into the nature of the symptoms of psychiatric comorbidities in these patients, and particularly children and adolescents, with a view to assisting clinicians in reaching a cor...

Objective: It remains unclear whether very early onset psychosis (VEOP; ≤12years of age) and early onset psychosis (EOP; onset 13-17years of age) are homogeneous in their clinical presentation. We investigated the predictive value of age of psychosis onset for severity, functioning and demographic variation by: 1) comparing groups based on traditi...

Pregnancy on dialysis is increasingly being reported. This study evaluates the behavioural profile of the children of mothers on dialysis and the parental stress their mothers undergo when compared with a group of mothers affected by a different chronic disease (microcythaemia) and a group of healthy control mothers. Between 2000 and 2012, 23 on-di...

MicroRNAs (miRNAs) are post-transcriptional regulators that have been shown to be involved in disease susceptibility. Here we explore the possible contribution of common and rare variants in miRNA genes in autism spectrum disorders (ASD). A total of 350 tag SNPs from 163 miRNA genes were genotyped in 636 ASD cases and 673 controls. A replication st...

Attention deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. There is an increasing need to find objective measures and markers of the disorder in order to assess the efficacy of the therapies and to improve follow-up strategies. Actigraphy is an objective method for recording motor activity and sleep pa...

Recent findings revealed rare copy number variants and missense changes in the X-linked gene PTCHD1 in autism spectrum disorder (ASD) and intellectual disability (ID). Here, we aim to explore the contribution of common PTCHD1 variants in ASD and gain additional evidence for the role of rare variants of this gene in ASD and ID. A two-stage case-cont...

Epidemiological studies have highlighted a strong male bias in autism spectrum disorder (ASD), however few studies have examined gender differences in autism symptoms, and available findings are inconsistent. The aim of the present study is to investigate the longitudinal gender differences in developmental profiles of 30 female and 30 male age-mat...

Numerous studies have underscored prevalence of motor impairments in children with autism spectrum disorders (ASD), but only few of them have analyzed motor strategies exploited by ASD children when learning a new motor procedure. To evaluate motor procedure learning and performance strategies in both ASD and typically developing (TD) children, we...

Deficits in emotional reactivity are frequently reported in Disruptive Behavior Disorders (DBDs). A deficit in prosocial emotions, namely the callous unemotional traits (CU), may be a mediator of emotional reactivity. Our aim is to investigate subjective emotional reactivity towards visual stimuli with different affective valence in youths with DBD...

Background: Autism spectrum conditions (ASC) are characterized by a striking male prevalence. Converging evidence suggests that sex hormones may play a role in the link between ASC and maleness. Puberty is a crucial phase of sexual development where the sexual differentiation of the brain, primarily established prenatally, is actively maintained....

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Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings with mild ID and epilepsy in the CADPS2 gene, encoding for a synaptic protein involved in neurotrophin release...

Although recent studies have shown that catatonia can occur in patients with autism spectrum disorders (ASDs), the overlap of the behavioral features between these disorders raises many diagnostic challenges. In fact, in clinical practice it is common to misinterpret catatonic symptoms, including mutism, stereotypic speech, repetitive behaviors, ec...

Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Learning by observation requires specific skills such as attending, imitating and understanding contingencies. Individuals with autism spectrum disorder (ASD) exhibit de...