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The present study investigates the differences in auditory mismatch negativity (MMN) parameters given in a sample of young subjects with autism spectrum disorder (ASD, n = 37) with or without co-occurrent attenuated psychosis syndrome (APS). Our results show that ASD individuals present an MMN decreased amplitude and prolonged latency, without being influenced by concurrent APS. Additionally, when correlating the MMN indexes to clinical features, in the ASD + APS group, we found a negative correlation between the severity of autistic symptoms and the MMN latency in both frequency (f-MMN r = −0.810; p < 0.0001) and duration (d-MMN r = −0.650; p = 0.006) deviants. Thus, our results may provide a more informative characterization of the ASD sub-phenotype when associated with APS, highlighting the need for further longitudinal investigations.

BackgroundOne in six adolescents suffers from mental health problems. Despite the presence of general information on Italian adolescents' mental health, researches conducted with standardized assessment tools are scarce in the literature. We evaluated the prevalence of self-reported behavioral and emotional problems in a group of Italian adolescents and examined their relation to socio-demographical variables.MethodsThis population-based sampling survey was conducted on high school students aged 14–18 from urban areas of Rome and Latina. Participants completed Youth Self-Report (YSR) and a socio-demographic schedule to collect information on age, gender, type of school attended, socio-economic status, urbanicity.ResultsFinal sample consisted of 1400 adolescents (38.61% male, mean age 16 years, s.d. 1.42). Prevalence of Internalizing Problems, Externalizing Problems and Total Problems was 29.55%, 18.34% and 24.13%. In our multivariable model, Internalizing Symptoms were not explained by sociodemographic variables while Externalizing Symptoms were explained by Male Gender [OR = 1.53 (1.14–2.06)], older age [OR = 2.06 (1.52–2.79)] and attending a Technical and Professional Institute [OR = 2.15 (1.53–3.02)], with an adjusted R2 = 4.32%. Total Problems were explained by School Type [Technical and Professional Institutes and Art and Humanities v. Grammar and Science School; OR respectively 1.93 (1.40–2.67) and 1.64 (1.08–2.47)], adjusted R2 = 1.94.ConclusionsThe study provides, for the first time, evidence of a great prevalence of self-reported behavioral and emotional problems in a large sample of Italian adolescents, highlighting the role of different socio-demographic variables as risk factors for externalizing behaviors. Our results emphasize the urgent need for implementing prevention programs on mental health in adolescence.

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 whether during the COVID-19 pandemic, the level of parental stress differs between four disability groups including neurodevelopmental disorders (autism spectrum disorder (ASD), attention deficit and hyperactivity disorder (ADHD)) and genetic syndromes (Rett syndrome (RTT), Sotos syndrome (SS)) in comparison to families with typical development offspring (TD). In total, 220 Italian parents of children affected by neurodevelopmental disabilities (74 ASD, 51 ADHD, 34 SS, 21 RTT, 40 TD, age M 9.4 ± SD 4.2) underwent a standardized evaluation for stress related to parenting through the self-report questionnaire, Parental Stress Index-Short Form (PSI-SF). The main findings show greater levels of parental stress—mainly linked to child behavioral characteristics rather than parental sense of competence—in parents of children affected by a disability in comparison to children with typical development. This study highlights the need to support not only individuals with special needs but also their own caregivers: core figures in the management and outcome of children disorders.

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 substrate could significantly improve our knowledge regarding the most appropriate pharmacological treatment for individual needs. In this review, we discuss the possible genetic and biological pathways, including the Glutamatergic, GABAergic, and mTOR systems, involved in the pathophysiology of autism, as well as the mechanisms that may be targeted by new drug interventions. Finally, we describe the current progress from the preclinical and clinical studies on some potential therapeutic options for ASD core symptoms.

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 describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Concurrently, the father underwent his first psychiatric evaluation of cognitive skills and autistic symptoms. Conclusions We report the first clinical description of an association between autistic symptoms and Greig cephalopolysyndactyly syndrome in two members of the same family with the same genetic point deletion. Further research is required in order to draw an accurate conclusion regarding the association between Greig cephalopolysyndactyly syndrome and autism.

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 in population with schizophrenia spectrum disorders. Our study systematically reviews and quantitatively synthetizes the current evidence on the presence of autistic symptoms in individuals with schizophrenia spectrum disorders. Methods: A comprehensive literature search of the PubMed/MEDLINE, Cochrane Library, CINHAL, and Embase databases was performed from the date of their inceptions until March 2018. The primary outcome measure was the Autism Spectrum Quotient (AQ). As secondary outcome measures, we analyzed the AQ subscales. Data were extracted and analyzed by using a conservative model and expressed by standardized mean difference (SMD). Results: Thirteen studies comprising a total of 1,958 individuals were included in the analysis. Results showed that individuals with schizophrenia spectrum disorders have higher levels of autistic symptoms compared to healthy controls [SMD: 1.39, 95% confidence interval (CI): 1.11 to 1.68] and lower levels of autistic symptoms compared to individuals with autism (SMD: -1.27, 95% CI: -1.77 to -0.76). Conclusions: Current findings support that individuals with schizophrenia spectrum disorders have higher autistic symptoms than healthy controls. Therefore, further studies are needed in order to shed light on the association between these two conditions.

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 the environment as well. This paper summarizes the conclusions of a consensus conference focused on the potential pathogenetic role of environmental factors and on their interactions with genetics. Several environmental factors have been discussed in terms of ASD risk, namely advanced parental age, assisted reproductive technologies, nutritional factors, maternal infections and diseases, environmental chemicals and toxicants, and medications, as well as some other conditions. The analysis focused on their specific impact on three biologically relevant time windows for brain development: the periconception, prenatal, and early postnatal periods. Possible protective factors that might prevent or modify an ASD trajectory have been explored as well. Recommendations for clinicians to reduce ASD risk or its severity have been proposed. Developments in molecular biology and big data approaches, which are able to assess a large number of coexisting factors, are offering new opportunities to disentangle the gene–environment interplay that can lead to the development of ASD.

The molecular signature underlying autism spectrum disorder remains largely unknown. This study identifies differential expression of mTOR and MAPK pathways in patients affected by mild and severe idiopathic autism. A total of 55 subjects were enrolled, of which 22 were typically developing individuals and 33 were patients aged between 3 and 11 years, with autism spectrum disorder. A detailed history, including physical examination, developmental evaluation, mental health history and autism diagnostic observation schedule were performed for each patient. Components of the mTOR and MAPK signalling pathways were analysed from peripheral blood at the protein level. Patients were then stratified according to their clinical phenotypes, and the molecular profiling was analysed in relation to the degree of autism severity. In this cohort of patients, we identified increased activity of mTOR and the MAPK pathways, key regulators of synaptogenesis and protein synthesis. Specifically, rpS6, p-eIF4E, TSC1 and p-MNK1 expression discriminated patients according to their clinical diagnosis, suggesting that components of protein synthesis signalling pathways might constitute a molecular signature of clinical severity in autism spectrum disorder.

BACKGROUND Although achondroplasia (ACH) may not be considered a condition that is strictly related to neuropsychiatric problems, many children referred to pediatric neurologists and psychiatrists to undergo motor and linguistic diagnostic-rehab procedures. The purpose of this study was to delineate a characterization of language difficulties in a sample of Italian children with achondroplasia and analyze how an untreated language disorder can develop into a learning disability. METHODS Seventeen Italian children (average age: 5 years and 8 months) with a clinical diagnosis genetically confirmed of achondroplasia were enrolled. Each child underwent a neuropsychological evaluation depending on the age, which included the following areas: intelligence, language, visual-spatial skills, memory, academic achievements, behavior. RESULTS Most of ACH patients showed delayed speech development milestones. Cognitive evaluation revealed average abilities. All the ACH children have received a diagnosis of language impairment (DSM-5 "The Diagnostic and Statistical Manual of Mental Disorders 5° edition"): "Speech sound disorder" in the pre-school-age group, "Language disorder" with impairment of both verbal expression and verbal comprehension in the school age children. CONCLUSIONS Several studies on general population demonstrated that children with developmental speech and language problems are at considerable risk for learning disability. Considering that in our ACH sample the language disorder has been diagnosed in all children, we expect a higher prevalence of learning disabilities in ACH than in general population.

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 discriminates severe from mild-to-moderate restricted, repetitive, and stereotyped behaviors. We enrolled 57 children aged 2&ndash, 11 years, thirty-one with idiopathic autism and twenty-six neurotypical (NT), matched for age and ethnicity. The urine metabolome was investigated by gas chromatography-mass spectrometry (GC-MS). The urinary metabolome of autistic children was largely distinguishable from that of NT children, food selectivity induced further significant metabolic differences. Severe autism spectrum disorder core deficits were marked by high levels of metabolites resulting from diet, gut dysbiosis, oxidative stress, tryptophan metabolism, mitochondrial dysfunction. The hierarchical clustering algorithm generated two metabolic clusters in autistic children: 85&ndash, 90% of children with mild-to-moderate abnormal behaviors fell in cluster II. Our results open up new perspectives for the more general understanding of the correlation between the clinical phenotype of autistic children and their urine metabolome. Adipic acid, palmitic acid, and 3-(3-hydroxyphenyl)-3-hydroxypropanoic acid can be proposed as candidate biomarkers of autism severity.

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. Research suggests that anxiety disorders and OCD are highly prevalent in individuals with ASD. However, the significant overlap of ASD features with anxiety and OCD symptomology makes differential diagnosis of these disorders particularly challenging. Though several treatments for anxiety have been adapted for youth with ASD (e.g., cognitive behavior therapy), pharmacological treatments and treatments for adults are still marked undeveloped. Despite the high prevalence of anxiety disorders and OCD in ASD and some recent advances in assessment and treatment, research is needed to clarify the multifaceted relationship of these conditions and develop tailored assessment and treatment approaches appropriate for a full range of individuals with ASD.

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 abnormalities are often characterized by a delay in nonverbal cognitive skills, such as fine motor and visual reception domains followed by qualitative impairment of social communication. The expanding possibilities of an early diagnosis of TSC should increasingly allow the prompt identification of a population of infants at high risk for developing ASD. A presymptomatic diagnosis of TSC could facilitate not only the prospective investigation of developmental trajectories and early markers of ASD but also the evaluation of the efficacy of early interventions. Early identification of infants at high-risk for ASD, such as TSC infants, can allow designing individualized treatment strategies to address deficits in specific developmental domains associated with autism. The involvement of mammalian target of rapamycin (mTOR) in determining the behavioral phenotypes associated with TSC led to the hypothesis that mTOR inhibitors could also have a benefit on ASD symptoms. After the promising results from preclinical studies administrating rapamycin, clinical trials studying mTOR inhibitors are now undergoing.

Background: Headache is one of the most common disorders in childhood. Internet-based health resources are growing in popularity, as most of users resort to it in order to get health-related information. We evaluated the quality of information concerning childhood headaches provided by the Internet. Method: Website quality was rated by a team of three paediatric neurologists (PNs), and by three lay subjects (LS) without any medical or neurological knowledge, using the DISCERN tool. Results: With regard to the PNs evaluation: considering 39 websites, 7,7% proved to be fairly reliable, 2,5% was found to provide good quality information on treatment options, 7,7% showed good overall quality of the content. With regard to the LS evaluation: 7,7% of the websites proved to be fairly reliable, 17,9% was found to provide good quality information on treatment options, 7,7% showed good overall quality of the content. Conclusion: Internet-based information about childhood headaches is not completely reliable considering both the opinion of expert and not professional subjects. Although the Internet may become a useful tool for health-related purposes, thus providing accessible, interactive and customized information, it should be enhanced by greater relevance, better description of treatment choices and more clarity of sources. Implications of these findings are discussed.

Children with Neurofibromatosis type 1 (NF1) are known to have cognitive, social, and behavioral deficits. Fifteen NF1-subjects (5 boys, 10 girls, mean age = 13.4), and 15 healthy controls matched for age and sex were assessed on the presence of anxiety symptoms, using the Multidimensional Anxiety Scale for Children (MASC), self-report questionnaire. Significant group differences emerged with regard to MASC total (Z = -2.058, P = 0.041) and anxiety disorder index (ADI; Z = -2.202, P = 0.026), but not with regard to single scales. When the severity and visibility of NF1 were considered, correlation between severity and social anxiety, and severity and MASC total was found. This is the first study assessing anxiety symptoms in NF1 children and youths. A precocious psychological survey and intervention in NF1 subjects, may contribute to reduce the risk of psychiatric disorders in adulthood.

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 problems in this clinical population. Although understanding the causes of sleep disorders in ASD is a clinical priority, the causal relationship between these two conditions remains unclear. Given the complex nature of ASD, the etiology of sleep problems in this clinical population is probably multi-factorial. In this overview, we discuss in detail three possible etiological explanations of sleep problems in ASD that can all contribute to the high rate of these symptoms in ASD. Specifically, we examine how neurobiological alterations, genetic mutations, and disrupted sleep architecture can cause sleep problems in individuals with ASD. We also discuss how sleep problems may be a direct result of core symptoms of ASD. Finally, a detailed examination of the relationship between sleep problems and associated clinical features and psychiatric comorbidities in individuals with ASD is described.