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Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It is characterized by an unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations in cognitive and adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim to define the cognitive and adaptive behavior profile of MS children and adolescents, providing quantitative data from standardized evaluations. Subjects included in this study were evaluated from October 2020 to January 2022 and the study is based on a retrospective data archive: fifteen MS individuals were recruited and underwent evaluation with Wechsler Intelligence Scales, Leiter International Performance Scales and Griffith Mental Development Scales for cognitive profiles and with Vineland Adaptive Behavior Scales-II Edition (VABS-II) for adaptive functioning. Language skills and visuomotor integration abilities were assessed too. Comparisons and correlations between scales and subtests were performed. All the assessed MS individuals showed both low cognitive and adaptive functioning. One subject presented with mild ID, five had moderate ID and eight showed severe ID. One female toddler received a diagnosis of psychomotor delay. Linguistic skills were impaired in all individuals, with language comprehension relatively more preserved. Results revealed significant differences between VABS-II subdomains and a strong relationship between cognitive and adaptive functioning. All subjects exhibited mild to moderate ID and adaptive behavior lower than normal, with communication skills being the most affected. Regarding the daily living skills domain, personal and community subscale scores were dramatically lower than for the domestic subdomain, highlighting the importance of considering behavior within developmental and environmental contexts

The aim of the study was to re-assess neuropsychological profile in a group of boys with Duchenne muscular dystrophy without intellectual disability and neuropsychiatric disorder three years apart from a previous evaluation, to establish possible changes over time. We were also interested in defining more in detail correlation between genotype and neuropsychological phenotype. Thirty-three of the previous 40 subjects (mean age at follow up: 10 years and 7 months) agreed to participate in the follow up study and to perform the new assessment. The results confirm a typical neuropsychological profile, with difficulty in the manipulation of stored information, poor abstract reasoning and planning capacity and impulsiveness, supporting the involvement of a cerebellar striatal cortical network for these children. The more detailed description of subgroups of subjects, according to the real expression of Dp140, let to reveal possible genotype-neuropsychological phenotype correlations, and a more general neuropsychological impairment emerged in boys without Dp140 expression.(c) 2021 Elsevier B.V. All rights reserved.

Aims: The present investigation aimed at evaluating differences in psychiatric hospitalizations in Italy during and after the lockdown due to the novel coronavirus disease 2019 (COVID-19), compared to the same periods in 2018 and 2019. Methods: We obtained and analyzed anonymized data on psychiatric admissions (n = 4550) from 12 general hospital psychiatric wards (GHPWs) in different Italian regions (catchment area = 3.71 millions of inhabitants). Using a mixed-effects Poisson regression model, we compared admission characteristics across three periods: (a) March 1–June 30, 2018 and 2019; (b) March 1–April 30, 2020 (i.e., lockdown); and (c) May 1–June 30, 2020 (i.e., post-lockdown). Results: During the COVID-19 lockdown, there was a 41% reduction (IRR = 0.59; p < 0.001, CI: 0.45–0.79) in psychiatric admissions in the enrolled GHPWs with respect to the 2018 and 2019 control period. Conversely, admission rates in the post-lockdown period were similar to those observed in the control period. Notably, a consistent and significant reduction in psychiatric hospitalizations of older patients (aged >65 years) was observed in the lockdown (40%; IRR = 0.60; 95% CI: 0.44–0.82) and post-lockdown (28%; IRR = 0.72; 95% CI: 0.54–0.96) periods. Long-stay admissions (>14 days) increased (63%; IRR = 1.63; 95% CI: 1.32–2.02) during the lockdown and decreased by 39% thereafter (IRR = 0.61; 95% CI: 0.49–0.75). A significant 35% increase in patients reporting suicidal ideation was observed in the post-lockdown period, compared to the rate observed in the 2018 and 2019 control period (IRR = 1.35; 95% CI: 1.01–1.79). Conclusion: The COVID-19 lockdown was associated with changes in the number of psychiatric admissions, particularly for older patients and long-stay hospitalizations. Increased admission of patients reporting suicidal ideation in the post-lockdown period merits special attention. Further studies are required to gain insight into the observed phenomena.

The autism spectrum disorder (ASD) is an etiologically heterogeneous disorder. Dysfunctions of the intermediate metabolism have been described in some patients. We speculate these metabolic abnormalities are associated with brain insulin resistance (IR), i.e., the reduced glucose metabolism at the level of the nervous central system. The Homeostasis model assessment of insulin resistance (HOMA-IR) is very often used in population studies as estimate of peripheral IR and it has been recently recognized as proxy of brain IR. We investigated HOMA-IR in 60 ASD patients aged 4–18 years and 240 healthy controls, also aged 4–18 years, but unmatched for age, sex, body weight, or body mass index (BMI). At multivariable linear regression model, the HOMA-IR was 0.31 unit higher in ASD individuals than in controls, after having adjusted for sex, age, BMI z-score category, and lipids that are factors known to influence HOMA-IR. Findings of this preliminary study suggest it is worth investigating brain glucose metabolism in larger population of patients with ASD by using gold standard technique. The recognition of a reduced glucose metabolism in some areas of the brain as marker of autism might have tremendous impact on our understanding of the pathogenic mechanisms of the disease and in terms of public health.

Williams Beuren syndrome (WBS) and autism spectrum disorder (ASD) have been long considered as “polar opposite” disorders. Although children with WBS appears to be hypersociable, recent researches have revealed difficulties in socio-communicative skills such as shared attention, showing or giving objects, social relationships comprehension, pragmatic use of language, and emotion's recognition. The aim of this cross-syndrome study is to compare clinician-report adaptive profiles of two wide developmental range children by means of Vineland Adaptive Behavior Scales—Interview Edition, Survey Form. Eighty individuals, 40 with WBS and 40 with ASD (31 preschoolers and 49 scholars) with ASD and WBS matched for chronological age and developmental/cognitive level were recruited. Analysis of domains and subdomains have been reported. Results showed no significant difference in global adaptive level between WBS and ASD in both preschooler and scholar children. Communication domain significantly differ in preschoolers (higher in WBS children), but not in scholars. Expressive subdomain significantly differ in both preschoolers and scholars (higher in WBS children). Play and Leisure subdomain significantly differ in scholars (higher in WBS children), but not in preschoolers. Our results support hypothesis on a shared global adaptive impairment in children with WBS and ASD, by extending this findings to scholar-age children. Analysis of domains and subdomains differences highlight the need for interventions targeting social-pragmatic skills since first years of life. Differences in preschoolers and scholars adaptive profiles could be explained through a developmental perspective. Lay Summary: Little is known about differences in adaptive profiles between Williams Beuren syndrome and autism spectrum disorder. Our results show similarities in global adaptive level and difference in communication level. Furthermore, expressive skills seem to be higher in Williams Beuren Syndrome. Aut

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a multifactorial etiology. Latest researches are raising the hypothesis of a link between the onset of the main behavioral symptoms of ASD and the chronic neuroinflammatory condition of the autistic brain; increasing evidence of this connection is shedding light on new possible players in the pathogenesis of ASD. The endocannabinoid system (ECS) has a key role in neurodevelopment as well as in normal inflammatory responses and it is not surprising that many preclinical and clinical studies account for alterations of the endocannabinoid signaling in ASD. These findings lay the foundation for a better understanding of the neurochemical mechanisms underlying ASD and for new therapeutic attempts aimed at exploiting the renowned anti-inflammatory properties of cannabinoids to treat pathologies encompassed in the autistic spectrum. This review discusses the current preclinical and clinical evidence supporting a key role of the ECS in the neuroinflammatory state that characterizes ASD, providing hints to identify new biomarkers in ASD and promising therapies for the future.

Objective: Although the fifth Body Mass Index (BMI) percentile is the Diagnostic and Statistic Manual of Mental Disorders -5 weight cut-off criterion to diagnose anorexia nervosa (AN) in children and adolescents, its validity has not been proved, and the 10th percentile value is often applied. We aimed to investigate the diagnostic validity of these weight cut-offs. Method: We compared general and eating-disorder (ED) specific psychopathology in 380 adolescents with AN or atypical AN. They were grouped first with respect to the fifth BMI percentile and then with respect to the 10th BMI percentile and differences between groups were analysed. Network analyses on psychopathological symptoms were also conducted. Results: Adolescents with BMI above the fifth and the 10th percentile reported more severe ED specific symptomatology compared to those with BMI below these cut-offs. No significant differences emerged between groups neither in general psychopathology nor in the network structure of psychopathology. Conclusions: The fifth BMI percentile does not discriminate psychopathology severity in adolescents with AN. From the psychopathology perspective, our findings suggest that adolescents with atypical AN deserve the same clinical and research attention as those with full AN. Future studies are needed to identify a more accurate definition of underweight in adolescents.

Delays in language are a hallmark feature of Autism Spectrum Disorder (ASD). However, little is known about the predictive role of language developmental trajectories on ASD. The present study aimed at identifying early different language developmental profiles of infants at high familial risk for ASD (HR-ASD) and testing their predictive role on ASD symptoms at 2 years. The role of gestures on socio-communicative skills has also been explored. Trajectories of expressive vocabulary were investigated in 137 HR-ASD infants at 12, 18, and, 24 months of age. Parents were requested to complete the Italian version of the MacArthur-Bates Communicative Development Inventory and ASD symptoms were measured by ADOS-2. Latent class growth analysis defined four trajectories: above average language development group (above-average LD, 18.2%), normal language development group (NLD, 38.7%), late-onset language development group (late-onset LD, 11.7%), and a group of children with stable language delay (SLD, 31.4%). Results showed that the SLD group obtained higher communicative difficulties and restricted/repetitive behavior compared to the other groups. Examining early increase of produced gestures in the different language classes, we found fewer produced gestures between 12 and 18 months in the SLD group compared to the late-onset LD group. The results identified clusters of HR infants who follow similar estimated trajectories based on individual differences in language development. These patterns of early language acquisition, together with produced gestures, may be predictive of later ASD symptoms and useful for planning prompt intervention. Lay Summary: Language/gesture deficits are hallmark features of Autism Spectrum Disorder (ASD), but the predictive role of communicative trajectories on ASD remains unclear. In a longitudinal Italian sample of infants at high familial risk for ASD (HR-ASD), we tested if language trajectories and their link with gestures can predict ASD sy

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.

Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carrying this genomic rearrangement have not been assessed in detail. The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion were investigated through systematic assessment of the cognitive and developmental levels, adaptive profile and presence of behavioral symptoms and autistic features. Furthermore, four transmitting parents were assessed by means of cognitive, psychopathological and parental stress tests. A below-average cognitive level was documented in all children, and defective adaptive levels were observed in four of them. Three of the five children were diagnosed as having autism spectrum disorder in comorbidity with intellectual disability/global developmental delay, with a major impairment in social communication skills. The remaining two children presented with isolated intellectual disability and an unclassifiable neurodevelopmental disorder, respectively. This study provide data contributing to a more accurate characterization of the neurobehavioral phenotype of individuals carrying heterozygous NRXN1 deletions. This analysis indicates that these structural rearrangements are associated with a variable expression of neuropsychiatric symptoms, and cast some doubts about the incomplete penetrance of the disorder.

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10−6). Novel reciprocal case–control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.

The 22q11.2 deletion syndrome (22q11DS) is associated with a 20–25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.

Background: In a longitudinal design, the present study examined: (a) the nature of attachment patterns and reflective functioning (RF) in individuals at ultra-high risk for psychosis (UHR); (b) the association between RF and subclinical psychotic symtoms; and (c) the psychosis-predictive value of attachment patterns, RF, and the interaction between these factors. Method: The sample comprised 57 UHR subjects and 53 clinical controls (non-UHR). UHR subjects were followed over a mean period of 14 months (SD = 2.7; range 11–19), during which time 11.5% developed psychosis. Attachment patterns and RF were measured. Hierarchical logistic regression was used to examine the predictive value of variables in the transition to psychosis. Results: At baseline, significant differences were found between groups in secure attachment patterns and RF. RF was negatively associated with the attenuated psychotic symptoms described by the Unusual Thought Content/Delusional Ideas, Suspiciousness/Persecutory Ideas, and Disorganized Communication subscales. Moreover, poor mentalization was related to an increased likelihood of developing a psychotic disorder (OR = 0.427, 95% CI [0.188, 0.970]); conversely, no predictive effects of the attachment variables and their interaction with RF on the transition to psychosis were found. Notably, an optimal threshold value of RF = 1.25 was found to distinguish UHR subjects who made the transition to psychosis from those who did not develop this pathology. Conclusion: The results suggest that aberrant mentalizing patterns can predict the development of psychosis. Clinical implications of these results for the development of preventive treatments are discussed.

Aims: Recent meta-analytic data show that approximately 40% of individuals at clinical high risk for psychosis (CHR) receive at least one personality disorder (PD) diagnosis. Personality pathology could significantly influence CHR patients’ prognosis and response to treatment. We aimed at exploring the PD traits of CHR adolescents, in order to outline a prototypic description of their most frequently observed personality characteristics. Methods: One hundred and twenty-three psychiatrists and psychologists used a Q-sort procedure [i.e., the Shedler–Westen Assessment Procedure-200 for Adolescents (SWAP-200-A)] to assess personality traits and disorders in 58 (30 male; mean age = 16 years, range = 13–19 years) CHR adolescents and two gender-and age-matched samples, respectively, with (n = 60) and without PDs (n = 59). Results: Differences between the CHR, PD, and clinical groups showed that CHR adolescents had pervasive and more clinically relevant schizoid, schizotypal, borderline, and avoidant traits, as well as poorer adaptive functioning. Moreover, by collecting the highest mean SWAP-200-A items, we empirically outlined a prototypic description of CHR youths, comprised of avoidance of social relationships; suspiciousness; obsessional thoughts; lack of psychological insight; dysphoric and overwhelming feelings of anxiety and depression; odd and anomalous reasoning processes or perceptual experiences; symptoms of depersonalization and derealization; and negative symptoms of avolition, abulia, blunted affects, and impaired role functioning. Conclusions: The results suggest that avoidant interpersonal strategies, impaired mentalization, and difficulties in emotional regulation could become important targets for psychosocial interventions with CHR adolescent populations.

Emerging evidence suggests that the combination of transcranial direct current stimulation (tDCS) and reading training may provide promising benefits for dyslexia; however, the clinical effects and the role of individual differences in tDCS outcomes for dyslexia remain unclear. To this end, the present study investigated the effects of tDCS on clinically relevant reading measures and examined factors (i.e. reading at baseline, age, and intelligence quotient [IQ]) that may contribute to improvements following tDCS treatment. Our results showed that, in terms of word reading fluency, the percentage of responders in the active tDCS group was higher than that in the sham tDCS group. Linear mixed effects models showed that the effect of tDCS and reading training tasks on word reading fluency depended on reading at baseline with age and IQ. Thus, the present study provides research-based selection criteria for potential responders to tDCS and encourages tailored intervention based on individual characteristics.

In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.

Autism spectrum disorder (ASD) is characterized by psychiatric and behavioral comorbidities. The Child Behavior Checklist (CBCL) provides valid and well-established measures of emotional, behavioral, and social problems in children and adolescents. The aim of the present study was to verify whether emotional, behavioral, and social problems were modulated by ASD symptom severity, cognitive development, gender, and age by analyzing the CBCL in a large group of children and adolescents with ASD. The results show that around 30% of participants with ASD exhibited internalizing problems and only 6% externalizing problems, with males exhibiting more internalizing problems than females. No correlation was found between CBCL scores and indices of ASD severity. However, higher CBCL Total Problems scores were found in older children and in children with lower cognitive abilities. The detection of behavioral and emotional problems allows children with ASD to undergo specific and individualized treatment that takes into account their psychopathological problems.

An increased prevalence of psychiatric comorbidity (PC) in individuals with Autism Spectrum Disorders (ASD) is consistently reported. While several studies have examined PC in school-aged children, adolescents and adults with ASD, investigations on PC in preschoolers are less common. In this study, we explore the prevalence and the type of PC in a sample of 989 preschoolers with ASD through the DSM-Oriented Scales (DOS) of the Child Behavior Checklist (CBCL 11⁄2-5) and their possible links with the core features of ASD and cognitive functioning. Results indicated that 37.8% of the sample had at least one PC in addition to ASD; these subjects displayed significantly higher Total score (p = 0.02) and Social Affect score (p = 0.003) on the ADOS-based calibrated severity scores (CSS), as well as lower (p ≤ 0.0001) performance IQ (pIQ) compared to ASD individuals without PC. As far as the specific DOS, Affective Problems (AP) were detected in 23.4% of the whole sample, ADHD Problems (ADHD) in 17.3%, Anxiety Problems (AXP) in 16.7%, and Oppositional Problems (OP) in 7.9%. These different comorbidities were isolated in 195 subjects (Mono-comorbid group: 19.7% of the whole sample), while 179 subjects (18.1% of the whole sample) had two or more types of PC (Multi-comorbid group). One-way ANOVA revealed that subjects with multi-comorbidity have statistically significant lower pIQ and higher Total score and Social Affect score on CSS-ADOS. Specific differences for each type of comorbidity and gender differences were also discussed. Taken together, results indicate a considerable presence of PC in preschoolers with ASD that should be accurately considered during the assessment and diagnosis process in order to plan a tailored intervention based not only on core symptoms of ASD, but also on comorbid psychiatric condition since preschool age.

Autism spectrum disorder (ASD) is a complex behavioral syndrome that is characterized by speech and language disorders, intellectual impairment, learning and motor dysfunctions. Several genetic and environmental factors are suspected to affect the ASD phenotype including air pollution, exposure to pesticides, maternal infections, inflammatory conditions, dietary factors or consumption of antibiotics during pregnancy. Many children with ASD shows abnormalities in gastrointestinal (GI) physiology, including increased intestinal permeability, overall microbiota alterations, and gut infection. Moreover, they are “picky eaters” and the existence of specific sensory patterns in ASD patients could represent one of the main aspects in hampering feeding. GI disorders are associated with an altered composition of the gut microbiota. Gut microbiome is able to communicate with brain activities through microbiota-derived signaling molecules, immune mediators, gut hormones as well as vagal and spinal afferent neurons. Since the diet induces changes in the intestinal microbiota and in the production of molecules, such as the SCFA, we wanted to investigate the role that nutritional intervention can have on GI microbiota composition and thus on its influence on behavior, GI symptoms and microbiota composition and report which are the beneficial effect on ASD conditions.

skills may be learned by active experience (experiential learning or learning by doing) or by observation of others’ experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome. To this end, we used a mixture of new and existing data to compare the performances of 24 individuals with DS, 24 individuals with WS and 24 typically developing children on computerized tasks of learning by observation or learning by doing. The main result was that the two groups with ID exhibited distinct patterns of learning by observation. Thus, individuals with DS were impaired in reproducing the previously observed visuo-motor sequence, while they were as efficient as TD children in the experiential learning task. On the other hand, individuals with WS benefited from the observational training while they were severely impaired in detecting the visuo-motor sequence in the experiential learning task (when presented first). The present findings reinforce the syndrome-specific hypothesis and the view of ID as a variety of conditions in which some cognitive functions are more disrupted than others because of the differences in genetic profile and brain morphology and functionality. These findings have important implications for clinicians, who should take into account the genetic etiology of ID in developing learning programs for treatment and education.

In literature nothing is known about the clinical significance of Ultra High Risk (UHR) symptoms in children and adolescents with diagnosis of obsessive−compulsive disorder (OCD). In this study, we examined the prevalence of UHR symptoms and their relationship with severity of obsessive−compulsive symptomatology, global, social, and role functioning, and level of associated depressive symptoms in a clinical sample (n = 51) of children and adolescents aged between 8 and 17 years with a diagnosis of OCD. The prevalence of UHR symptoms in this sample was 43.1%. We divided the whole sample into two groups: children and adolescents with OCD and UHR symptoms (n = 22) and children and adolescents with OCD without UHR symptoms (n = 29). Our findings suggest that the group with OCD and UHR symptoms shows worse global, social, and role functioning than the group with OCD without UHR symptoms. No differences were found on the severity of obsessive−compulsive symptomatology, the number of psychiatric diagnoses associated, and the level of depressive symptoms. The presence of UHR symptoms in children and adolescents with OCD could cause significant functional impairment and should be considered in order to plan specific and targeted therapeutic interventions.

Poor treatment outcomes are available for anorexia nervosa (AN) and treatment innovations are urgently needed. Recently, non-invasive neuromodulation tools have suggested to have potential for reducing an symptomatology targeting brain alterations. The objective of the study was to verify whether left anodal/right cathodal prefrontal cortex transcranial direct current stimulation (tDCS), may aid in altering/resetting inter-hemispheric balance in patients with AN, re-establishing control over eating behaviors. Twenty-three adolescents with an underwent a treatment as usual (AU), including nutritional, pharmacological, and psychoeducational treatment, plus 18 sessions of tDCS (TDCS+AU = n11; mean age = 13.9, SD = 1.8 years) or a family based therapy (FBT+AU = n12, mean age = 15.1, SD = 1.5 years). Psychopathological scales and the body mass index (BMI) were assessed before and after treatment. After 6 weeks of treatment, the BMI values increased only in the tDCS group, even at 1-month follow-up. Independently of the treatment, all participants improved in several psychopathological measures, included AN psychopathology and mood and anxiety symptoms. Our results demonstrated for the first time a specific effect of the left anodal/right cathodal tDCS treatment protocol on stable weight gain and a superiority compared to an active control treatment for adolescents with AN. Results were interpreted as a possible direct/indirect effect of tDCS in into some pathophysiological mechanisms of AN, involving the mesocortical dopaminergic pathways and the promotion of food intake. This pilot study opens new perspectives in the treatment of an in adolescence, supporting the targeted and beneficial effects of a brain-based treatment.

This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was administered to 32 Duchenne children and 37 controls of comparable chronological age. The Duchenne group showed a reduced rate of implicit learning even if in the absence of global intellectual disability. This finding provides further evidence of the involvement of specific aspects of cognitive function in Duchenne muscular dystrophy and on its possible neurobiological substrate.

The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duchenne boys (range of age: 6 years to 11 years and 6 months) were assessed by Wechsler Intelligence scale and battery of tests including tasks assessing working memory and executive functions (inhibition and switching, problem solving and planning). In our cohort some aspects of cognitive function were often impaired. These included multitasking, problem solving, inhibition and working memory necessary to plan and direct goal oriented behavior. Our results support the suggestion that aspects of cognitive function could be impaired even in boys without intellectual disability and support the hypothesis that executive functions may play an important role in specific aspects of cognitive impairment in Duchenne muscular dystrophy.

Individuals with chromosome 22q11 deletion syndrome (22q11DS) have high rates of psychotic disorders. Less is known about their psychopathology and how it is treated prior to the peak period of risk for psychotic disorder. There is also a lack of evidence on how functioning is impacted by psychopathology in this population. The aim of this study was to investigate the prevalence and treatment of non-psychotic psychiatric disorders, and how these factors are associated with psychosocial functioning in children and adolescents with 22q11DS. 126 individuals with 22q11DS aged 8-17 participated in the study. Participants were assessed for psychiatric diagnoses, social and role functioning, anxiety and depressive symptoms and IQ. Information on current treatments was collected. 52.4% of the sample presented with at least one psychiatric disorder. Mood and anxiety disorders were the most frequent, followed by behavioural disorder. Individuals with a psychiatric disorder had significantly lower general, role and social functioning. Only 27% of participants with a psychiatric diagnosis were receiving any mental health treatment at the time of assessment. Findings suggest the high prevalence of psychiatric disorders in youth with 22q11DS, which significantly impacts psychosocial functioning. Despite this, psychiatric disorders tend to remain untreated in this population.

No available

While attenuated psychotic symptoms (APS) and basic symptoms (BS) are the main current predictors of psychosis in adults, studies in adolescents are scarce. Thus, we (1) described the prevalence and severity of positive, negative, disorganization, general, and basic symptoms in adolescent patients at ultra-high risk for psychosis (UHR), with other non-psychotic psychiatric disorders (PC) and with early-onset psychosis (EOP); and (2) investigated BS criteria in relation to UHR criteria. Sixty-nine 12–18-year-old adolescents (15.3 ± 1.7 years, female = 58.0 %, UHR = 22, PC = 27, EOP = 20) were assessed with the structured interview for prodromal syndromes (SIPS) and the schizophrenia proneness instrument-child and youth version (SPI-CY). Despite similar current and past 12-month global functioning, both UHR and EOP had significantly higher SIPS total and subscale scores compared to PC, with moderate-large effect sizes. Expectedly, UHR had significantly lower SIPS positive symptom scores than EOP, but similar SIPS negative, disorganized, and general symptom scores. Compared to PC, both EOP and UHR had more severe basic thought and perception disturbances, and significantly more often met cognitive disturbances criteria (EOP = 50.0 %, UHR = 40.9 %, PC = 14.8 %). Compared to UHR, both EOP and PC significantly less often met cognitive-perceptive BS criteria (EOP = 35.0 %, UHR = 68.2 %, PC = 25.9 %). BS were significantly more prevalent in both EOP and UHR than PC, and UHR were similar to EOP in symptom domains. Given the uncertain outcome of adolescents at clinical high-risk of psychosis, future research is needed to determine whether the combined assessment of early subjective disturbances with observable APS can improve the accuracy of psychosis prediction.

This brief report is a partial replication of the study by Jackson and Atance (J Dev Disabil 14:40–45, 2008) assessing nonverbal Self-based and Mechanical-based future thinking (FT) in children with Autism Spectrum Disorder (ASD). In a first step, these tasks were administered to 30 children with ASD. The two Self-based tasks were then modified as a verbal component could not be completely ruled out. Consequently, 77 children with ASD and 77 children with typical development received the modified Self-based FT tasks and the Mechanical-based FT tasks. We partially replicated the previous findings. Participants with ASD had impaired FT in both kinds of tasks and both groups performed better on tasks assessing Mechanical-based FT than Self-based FT. These results suggest that impairments of FT in ASD are not limited to Self-Projection.

Aim: It has been found that long-chain omega-3 polyunsaturated fatty acids (PUFAs) reduce the risk of progression to first episode of psychosis (FEP) and may offer a safe and efficacious strategy for selective and indicated prevention in young people with ultra-high-risk (UHR) states. An opportunity for exploring the trajectory of FEP and for investigating the efficacy of preventive treatments exists in 22q11.2 deletion syndrome (22q11DS), which has a 30% psychotic transition rate. The fact that 22q11DS patients are more homogeneous than other UHR groups and are characterized by high level of negative symptoms provides a strong rationale for the use of PUFAs. The principal aim of the present trial is to investigate the effects of PUFAs in individuals with 22q11DS who are at UHR for developing FEP. Methods: A prospective, randomized, double-blind, placebo-controlled, single-centre study design will be used. Eighty individuals aged 12–26 will be randomly assigned to two treatment conditions. Results: The experimental group will receive PUFAs. The placebo group will receive paraffin oil. Standard clinical assessments and neuropsychological tests will be performed at baseline and at 8-, 12-, 26- and 52-week follow-up. Blood samples will be collected at baseline and after 12 weeks. This study is registered as an International Standard RCT, number 02070211. The corresponding author is supported by a NARSAD Young Investigator Award. Conclusions: This is the protocol of a planned study that aims to test the efficacy of PUFAs in the prodromal phase of FEP, in a specific syndrome where there is strong evidence that a high genetic load is involved in the disorder.

The aim of the present study is to evaluate the current psychopathological problems of different forms associated with maltreatment on children's and adolescents' mental health. Ninety-five females and ninety males with a mean age of 8.8 years who have suffered in the last six months different forms of abuse (physical, sexual, and emotional) and neglect were included in the study. The current reaction to trauma as directly observed by clinical instruments was examined. Differences in gender, age at the time of medical examination, familial psychiatric disorders, neuropsychiatric status, and type of maltreatment were also taken into account. Results documented that 95.1% of abused children and adolescents developed a psychiatric disorder or a subclinical form of a Posttraumatic Stress Disorder (PTSD). Moreover, our data demonstrate a role for gender, age, and familial psychiatric comorbidity in the current psychopathological problems associated with maltreatment. Overall, our findings can help clinicians make a diagnosis and provide efficient treatment and prevention strategies for child maltreatment and abuse.

Purpose: There is evidence that non-invasive brain stimulation transitorily modulates reading by facilitating the neural pathways underactive in individuals with dyslexia. The study aimed at investigating whether multiple sessions of transcranial direct current stimulation (tDCS) would enhance reading abilities of children and adolescents with dyslexia and whether the effect is long-lasting. Methods: Eighteen children and adolescents with dyslexia received three 20-minute sessions a week for 6 weeks (18 sessions) of left anodal/right cathodal tDCS set at 1mA over parieto-temporal regions combined with a cognitive training. The participants were randomly assigned to the active or the sham treatment; reading tasks (text, high and low frequency words, non-words) were used as outcome measures and collected before treatment, after treatment and one month after the end of treatment. The tolerability of tDCS was evaluated. Results: The active group showed reduced low frequency word reading errors and non-word reading times. These positive effects were stable even one month after the end of treatment. None reported adverse effects. Conclusions: The study shows preliminary evidence of tDCS feasibility and efficacy in improving non-words and low frequency words reading of children and adolescents with dyslexia and it opens new rehabilitative perspectives for the remediation of dyslexia.

The 22q11.2 deletion syndrome (22q11DS) is characterized by high rates of psychotic symptoms and schizophrenia, making this condition a promising human model for studying risk factors for psychosis. We explored the predictive value of ultra high risk (UHR) criteria in a sample of patients with 22q11DS. We also examined the additional contribution of socio-demographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.5 ± 17.6 months after initial assessment. Eighty-nine participants with 22q11DS (age range: 8-30 years; mean 16.1 ± 4.7) were assessed using the Structured Interview for Psychosis-Risk Syndromes. Information on Axis I diagnoses, internalizing and externalizing symptoms, level of functioning and IQ was also collected. At baseline, 22 (24.7%) participants met UHR criteria. Compared to those without a UHR condition, they had a significantly lower functioning, more frequent anxiety disorders, and more severe psychopathology. Transition rate to psychosis was 27.3% in UHR and 4.5% in non-UHR participants. Cox regression analyses revealed that UHR status significantly predicted conversion to psychosis. Baseline level of functioning was the only other additional predictor. This is the first study investigating the predictive value of UHR criteria in 22q11DS. It indicates that the clinical path leading to psychosis is broadly comparable to that observed in other clinical high-risk samples. Nevertheless, the relatively high transition rate in non-UHR individuals suggests that other risk markers should be explored in this population. The role of low functioning as a predictor of transition to psychosis should also be investigated more in depth.

Studies have shown that persons with Down syndrome (DS) exhibit relatively poor language capacities, and impaired verbal and visuoperceptual memory, whereas their visuospatial memory capacities appear comparatively spared. Individuals with DS recall better where an object was previously seen than what object was previously seen. However, most of the evidence concerning preserved visuospatial memory comes from tabletop or computerized experiments which are biased toward testing egocentric (viewpoint-dependent) spatial representations. Accordingly, allocentric (viewpoint-independent) spatial learning and memory capacities may not be necessary to perform these tasks. Thus, in order to more fully characterize the spatial capacities of individuals with DS, allocentric processes underlying real-world navigation must also be investigated. We tested 20 participants with DS and 16 mental age-matched, typically developing (TD) children in a real-world, allocentric spatial (AS) memory task. During local cue (LC) trials, participants had to locate three rewards marked by local color cues, among 12 locations distributed in a 4 m × 4 m arena. During AS trials, participants had to locate the same three rewards, in absence of LCs, based on their relations to distal environmental cues. All TD participants chose rewarded locations in LC and AS trials at above chance level. In contrast, although all but one of the participants with DS exhibited a preference for the rewarded locations in LC trials, only 50% of participants with DS chose the rewarded locations at above chance level in AS trials. As a group, participants with DS performed worse than TD children on all measures of task performance. These findings demonstrate that individuals with DS are impaired at using an AS representation to learn and remember discrete locations in a controlled environment, suggesting persistent and pervasive deficits in hippocampus-dependent memory in DS.

Parents of children with autism spectrum disorder (ASD) were shown to experience more stress than parents of typically developing peers, although little is known about risk factors predicting stress in this population. The aim of this study was to evaluate parental stress levels and behavioral and emotional problems in a sample of preschool children with ASD as compared to typically developing (TD) peers and to investigate the role of several factors, including the severity of autistic symptoms, adaptive skills, cognitive abilities and behavioral and emotional problems, on parental stress. Results confirmed that parents of children with ASD experience higher stress levels than parents of TD and that children with ASD show more behavioral and emotional problems than controls. Moreover, our results showed that behavioral and emotional problems are strong predictors of parental stress, while stress related to a parent-child dysfunctional relationship was associated with daily living and communication skills as well as cognitive abilities. Findings revealed different behavioral and emotional problems affecting parental stress in ASD and TD samples. No association between the severity of autism symptoms and parental stress was detected. These results suggest that dysfunctional behaviors in preschool children with ASD have a strong impact on parental stress, profoundly affecting the well-being of the entire family. Therefore, strategies aimed at the early detection and management of these behavioral and emotional problems are crucial in order to prevent parental stress and to develop the most appropriate treatment interventions.

Bazex-Dupré-Christol syndrome (BDCS) [OMIM 301845] is an X-linked dominant disorder of the hair follicle characterized by multiple basal cell carcinomas, follicular atrophoderma, congenital hypotrichosis, and hypohidrosis. Additional features include multiple milia, trichoepitheliomas, and axillary hidradenitis suppurativa as well as a variety of other symptoms. Some patients with a diagnosis of BDCS have had poor school performance. But no other associated psychopathological disorders have been described in the literature. We describe the neuropsychological characteristics and the co-occurring psychopathological disorders in an Italian family (brother and sister, and their mother) affected by BDCS. The BDCS phenotype in this family was characterized by hypotrichosis, atrophoderma follicularis, milia, and trichoepitheliomas. No basal cell carcinomas were documented. At neuropsychological assessment the three affected family members all had a borderline cognitive level. Other identified psychopathological disorders included attention deficit hyperactivity disorder, executive deficits, academic difficulties, deficits in lexical skills, and internalizing problems. The presence of cognitive impairment in the three family members affected by BDCS suggests that cognitive impairment may be associated with the syndrome. It may be useful to assess neuropsychological performance in patients with BDCS to identify possible associated neuropsychological disorders.

Background. Individuals with autism spectrum disorders (ASDs) are characterized by social communication difficulties and behavioural rigidity. Difficulties in learning from others are one of the most devastating features of this group of conditions. Nevertheless, the nature of learning difficulties in ASDs is still unclear. Given the relevance of implicit learning for social and communicative functioning, a link has been hypothesized between ASDs and implicit learning deficit. However, studies that have employed formal testing of implicit learning in ASDs provided mixed results. Method. We undertook a systematic search of studies that examined implicit learning in ASDs using serial reaction time (SRT), alternating serial reaction time (ASRT), pursuit rotor (PR), and contextual cueing (CC) tasks, and synthesized the data using meta-analysis. A total of 11 studies were identified, representing data from 407 individuals with ASDs and typically developing comparison participants. Results. The results indicate that individuals with ASDs do not differ in any task considered [SRT and ASRT task: standardized mean difference (SMD) -0.18, 95% confidence interval (CI) -0.71 to 0.36; PR task: SMD -0.34, 95% CI -1.04 to 0.36; CC task: SMD 0.27, 95% CI -0.07 to 0.60]. Conclusions. Based on our synthesis of the existing literature, we conclude that individuals with ASDs can learn implicitly, supporting the hypothesis that implicit learning deficits do not represent a core feature in ASDs.

Children with Duchenne muscular dystrophy (DMD) present a specific deficit of voluntary attention but to date there has been no clear characterization of their attentional skills. The present study investigated the hypothesis that DMD patients present deficits of both voluntary and automatic visuospatial attention systems and that their performance could be equivalent to that of younger healthy males. Twenty males (mean age 10 years) with diagnosis of DMD, 20 age-matched healthy males (10 years 3 months) and 20 healthy younger males (7 years 6 months) were required to perform two visuospatial attention tasks: voluntary and automatic. In the voluntary task, the performance of the DMD group was significantly worse than that of the age-matched group, and equal to that of the younger controls. In the automatic attention task also, the performance of the DMD patients was less efficient than that of the age-matched controls and equal to that of the younger children. This study supports the previous report of voluntary attention deficit in DMD and extends the evidence to include also an automatic attention system deficit. The development level of attention in DMD patients is below that expected for their age and corresponds to a delay of about three years.

Writing is a complex task that requires the integration of multiple cognitive, linguistic, and motor abilities. Until now, only a few studies investigated writing abilities in individuals with Intellectual Disability (ID). The aim of the present exploratory study was to provide knowledge on the organization of writing in two populations with ID, Down syndrome (DS) and Williams syndrome (WS), trying to disentangle different components of the process.A battery tapping diverse writing demands as low-level transcription skills as well as high-level writing skills was proposed to 13 individuals with WS, 12 individuals with DS and 11 mental-age-matched typically developing (TD) children.Results showed that the two groups with genetic syndromes did not differ from TD in writing a list of objects placed in bedroom, in the number of errors in the text composition, in a text copying task and in kind of errors made. However, in a word dictation task, individuals with DS made more errors than individuals with WS and TD children. In a pseudoword dictation task, both individuals with DS and WS showed more errors than TD children.Our results showed good abilities in individuals with ID in different aspects of writing, involving not only low-level transcription skills but also high-level composition skills.Contrary to the pessimistic view, considering individuals with ID vulnerable for failure, our results indicate that the presence of ID does not prevent the achievement of writing skills.

Objective: The validity of current ultra-high risk (UHR) criteria is under-examined in help-seeking minors, particularly, in children below the age of 12. years. Thus, the present study investigated predictors of one-year outcome in children and adolescents (CAD) with UHR status. Method: Thirty-five children and adolescents (age 9-17. years) meeting UHR criteria according to the Structured Interview for Psychosis-Risk Syndromes were followed-up for 12. months. Regression analyses were employed to detect baseline predictors of conversion to psychosis and of outcome of non-converters (remission and persistence of UHR versus conversion). Results: At one-year follow-up, 20% of patients had developed schizophrenia, 25.7% had remitted from their UHR status that, consequently, had persisted in 54.3%. No patient had fully remitted from mental disorders, even if UHR status was not maintained. Conversion was best predicted by any transient psychotic symptom and a disorganized communication score. No prediction model for outcome beyond conversion was identified. Conclusions: Our findings provide the first evidence for the predictive utility of UHR criteria in CAD in terms of brief intermittent psychotic symptoms (BIPS) when accompanied by signs of cognitive impairment, i.e. disorganized communication. However, because attenuated psychotic symptoms (APS) related to thought content and perception were indicative of non-conversion at 1-year follow-up, their use in early detection of psychosis in CAD needs further study. Overall, the need for more in-depth studies into developmental peculiarities in the early detection and treatment of psychoses with an onset of illness in childhood and early adolescence was further highlighted.

Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly12 promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. In general, the cognitive profile in CS is characterized by intellectual disability ranging from mild to severe impairment. The first published descriptions of behavior in CS children underlined the presence of irritability and shyness at younger ages with sociable personality and good empathic skills after 4-5 years of age, however some recent studies have reported autistic traits. We report on a 7-year-old boy heterozygous for a rare duplication of codon 37 (p.E37dup) in HRAS, manifesting impaired social interaction and non-verbal communication and with circumscribed interests. These additional features improve phenotype delineation in individuals with rare HRAS mutations, facilitating the development of specific behavioral treatments which could lead to improvement in cases of autism spectrum disorder.

Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS.Design, Setting, And Participants: Prospective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with≥1 assessment at age 8-24 years).Main Outcomes And Measures: Diagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test.Results: Among 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P < .001). Those with a negative deviation from the average cognitive trajectory observed in 22q11DS were at significantly increased risk for the development of a psychotic disorder (odds r

Several studies have described the atypical eating behaviors frequently occurring in children with Autism Spectrum Disorder (ASD), and food selectivity is the most frequent of these problems. The everyday management of mealtime behaviors among children with ASD can have a negative impact on family routines and become a significant stressor for families. However, much remains unknown about why food selectivity is so prevalent among individuals with ASD. The objective of this study was to investigate clinical and behavioral features in individuals with ASD with the aim of identifying distinctive clinical profiles in children with and without food selectivity. A total of 158 children with ASD were enrolled in this study: 79 participants with food selectivity (FS) were age and sex matched with 79 participants without food selectivity (No FS). All participants and their parents completed a battery of psychological tests for a comprehensive evaluation of ASD symptoms, cognitive abilities, adaptive skills, behavioral problems and parental stress level. No statistically significant difference on gastrointestinal symptoms and growth adequacy was found between the FS group and the No FS group. Overall, the FS group showed significantly higher rates of ASD symptoms as compared to the No FS group in the questionnaires completed by parents. Furthermore, parents of the FS group reported significantly higher levels of parental stress and a larger degree of their children's behavioral problems as compared to the No FS group. Finally, there were no differences between the FS and the No FS group on any adaptive skill domain. Our findings suggest that the identification of distinctive clinical and behavioral patterns in children with ASD and food selectivity is a crucial issue for parents and therapists in the daily management.

Effective task switching is supported by the inhibition of the just executed task, so that potential interference from previously executed tasks is adaptively counteracted. This inhibitory mechanism, named Backward Inhibition (BI), has been inferred from the finding that switching back to a recently executed task (A-B-A task sequence) is harder than switching back to a less recently executed task (C-B-A task sequence). Despite the fact that BI effects do impact performance on everyday life activities, up to now it is still not clear whether the BI represents an amodal and material-independent process or whether it interacts with the task material. To address this issue, a group of individuals with Williams syndrome (WS) characterized by specific difficulties in maintaining and processing visuo-spatial, but not verbal, information, and a mental age-and gender-matched group of typically developing (TD) children were subjected to three task-switching experiments requiring verbal or visuo-spatial material to be processed. Results showed that individuals with WS exhibited a normal BI effect during verbal task-switching, but a clear deficit during visuo-spatial task-switching. Overall, our findings demonstrating that the BI is a material-specific process have important implications for theoretical models of cognitive control and its architecture.

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-matched preschool children with ASD. All the children underwent a comprehensive evaluation at T0 and at T1. Our results have shown no significant interaction between time and gender for predicting autism symptoms, developmental quotient, parental stress, children’s adaptive skills and behavior problems. Shedding light on the developmental trajectories in ASD could help clinicians to recognize children with ASD at an earlier age and contribute to the development of appropriate treatments.

Background 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 deficits in these skills. Method The performance of 20 ASD children was compared with that of a group of typically developing (TD) children matched for chronological age (CA), IQ and gender on tasks of learning of a visuomotor sequence by observation or by trial and error. Acquiring the correct sequence involved three phases: a detection phase (DP), in which participants discovered the correct sequence and learned how to perform the task; an exercise phase (EP), in which they reproduced the sequence until performance was error free; and an automatization phase (AP), in which by repeating the error-free sequence they became accurate and speedy. Results In the DP, ASD children were impaired in detecting a sequence by trial and error only when the task was proposed as first, whereas they were as efficient as TD children in detecting a sequence by observation. In the EP, ASD children were as efficient as TD children. In the AP, ASD children were impaired in automatizing the sequence. Although the positive effect of learning by observation was evident, ASD children made a high number of imitative errors, indicating marked tendencies to hyperimitate. Conclusions These findings demonstrate the imitative abilities of ASD children although the presence of imitative errors indicates an impairment in the control of imitative behaviours. Copyright © 2014 Cambridge University Press.

Background: In 2009, an earthquake devastated the Abruzzo region in Italy. Despite the occurrence of several disasters in this country, no study on mental health of Italian children has ever been conducted in complex emergencies. Objective of the study was to assess the prevalence of psychiatric symptoms among children in the affected area 12 to 17 months after the event.Methods: A community sample of 1839 3-14 years children was identified from the general population assigned to 37 paediatricians of the National Health System, including children living in the earthquake epicentre, the surrounding earthquake zone, and the adjacent non-affected areas. Psychiatric symptoms were assessed with the Child Behavior Checklist (CBCL) and the Youth Self Report (YSR), completed by 452 children aged 11-14 years. The association between symptoms and sociodemographic, health, family, and earthquake-related factors was examined.Results: The prevalence of CBCL-defined cases was 14.9% in the epicentre, 13.0% in the remainder earthquake zone, 13.9% in the unaffected area (p =876). No differences among areas were found when comparing the YSR results. Prevalence of CBCL-defined post-traumatic stress (PTS) cases was 8.4% in the epicentre, 4.0% in the remainder earthquake zone, 2.2% in the unaffected area (p =002). PTS and anxiety were significantly more frequent in the epicentre than in other areas only in the 6-10 year-old children group (respectively p =009 and p =014). In multivariate logistic analyses, factors associated with PTS were living in the epicentre (OR = 3.6) and child or maternal history of mental health care prior to the earthquake (respectively OR = 7.1 and OR = 4.5).Conclusions: Children living in the epicentre, particularly those 6-10 years old, had the highest prevalence of CBCL-defined cases, and of PTS and anxiety symptoms one year after the earthquake. No signs of increased psychopathology were detected in younger (3-5 years) or older children (11-14 years). Famil

Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry ∼3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of ∼1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region. © 2014 Macmillan Publishers Limited.

The present study was aimed at investigating different aspects of Executive Functions (EF) in children with Developmental Dyslexia (DD). A neuropsychological battery tapping verbal fluency, spoonerism, attention, verbal shifting, short-term and working memory was used to assess 60 children with DD and 65 with typical reading (TR) abilities. Compared to their controls, children with DD showed deficits in several EF domains such as verbal categorical and phonological fluency, visual-spatial and auditory attention, spoonerism, verbal and visual short-term memory, and verbal working memory. Moreover, exploring predictive relationships between EF measures and reading, we found that spoonerism abilities better explained word and non-word reading deficits. Although to a lesser extent, auditory and visual-spatial attention also explained the increased percentage of variance related to reading deficit. EF deficits found in DD are interpreted as an expression of a deficient functioning of the Central Executive System and are discussed in the context of the recent temporal sampling theory. © 2014 Varvara, Varuzza, Sorrentino, Vicari and Menghini.

Children with autism spectrum disorders (ASD) and children with Williams syndrome (WS) show divergent social phenotypes, but also several similarities in their socio-cognitive deficits. Cross-syndrome direct comparisons could lead to a better understanding of mechanisms that determine deficits in social cognition in the two syndromes. A fundamental factor for social cognition is the ability to understand and predict others' actions (e.g. what action is being done and why it is being done when observing a goal-related act). Here we compared the understanding of others' actions in children with ASD, WS and in children with typical development. Comprehension of what motor act was being done and of why it was being done was assessed with or without contextual cueing using a computer-based task. The results showed that what understanding was impaired in the WS group, but not in the ASD group, which showed mental-age appropriate performance. Why understanding was impaired in both experimental groups. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

We conducted a longitudinal study of 30 preschool children with autism spectrum disorders (ASDs) to evaluate the potential benefits of the Treatment and Education of Autistic and related Communication Handicapped Children (TEACCH). Fifteen children following a low intensity TEACCH program were assessed four times for autism severity, adaptive functioning, language skills, maladaptive behaviors and parental stress and compared with a control group of 15 children following a non-specific approach. Findings suggest that a low intensity home and school TEACCH program may provide benefits for children with ASD by reducing autistic symptoms and maladaptive behaviors. Furthermore, a decrease in parental stress indicates that parents' involvement in the rehabilitation program is a crucial factor and contributes greatly to treatment efficacy. © 2013 Springer Science+Business Media New York.