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The coronavirus disease 2019 (COVID-19) pandemic impacted in a still undefined way pregnant women's mental health. There are reports of mood and affect changes in the general population and the suggestion that similar changes occur also in the pregnant population. The greater vulnerability of women during the COVID-19 restriction period may translate into a greater risk for mental disorders in the gestational period. We hypothesised that pregnant women in the pre-pandemic period would have less psychopathology and more psychological support than pregnant women during the pandemic restriction period.To compare pregnant women for anxiety, prenatal depression, psychopathology, and social support before and after the awareness of the pandemic.We administered to women willing to participate in their 2The nonCOVID-19 group reported higher support from partners only, while the COVID-19 group reported multiple support (The ability of pregnant women to deal with novel generalised threats involves mobilization of inner resources. Increasing sources of social support may have produced anxiolysis in the COVID-19 sample.

Background: Several psychological disorders have been described in patients affected by inflammatory bowel disease (IBD). Few studies have focused on the relationship between IBD and post-traumatic stress disorder (PTSD) symptoms, and no data are available on the relationship between IBD and dissociative symptoms. The aim of the present study was to evaluate the prevalence of PTSD and dissociative symptoms in a sample of IBD patients compared to healthy controls. A possible relationship with disease activity was also investigated. Methods: A total of 112 IBD patients, 55 Crohn’s disease (CD) and 57 ulcerative colitis (UC), and 114 healthy individuals were evaluated. IBD patients were divided into 3 subgroups according to disease activity (remission, mild, and moderate). The revised version of the Impact of Event Scale (IES-R) and the Dissociative Experience Scale (DES) were administered to patients and controls. Results: IBD patients showed significantly higher rates of PTSD and dissociative symptoms compared to healthy controls. No differences were found between CD and UC patients. PTSD and dissociative symptoms were higher among CD patients with mild to moderate-severe activity compared to the remission group. No differences were found among UC patients with different activity levels. Conclusion: IBD patients show a high prevalence of dissociative and traumatic affective disorders. Future studies are needed to investigate the role of these disorders in the clinical course and management of IBD patients according to the different disease activity phase.

Objective Long-standing overt ventriculomegaly in adults (LOVA) is form of hydrocephalus that develops during childhood, manifesting its symptoms during adulthood. Only a small number of LOVA case series have been published, and controversies regarding optimal management still exist. The authors collected a series of symptomatic LOVA patients treated successfully using endoscopic third ventriculostomy (ETV), aiming to strengthen what has been reported in the literature on ETV's role in both neurologic and neurocognitive outcomes. Methods Between 2002 and 2020, we collected 40 case studies of patients treated using an ETV. Associated pathologies were documented in 14 cases. All patients underwent magnetic resonance scans preoperatively and postoperatively while only 29 patients were submitted during follow-up to neurocognitive assessment. Result At a mean follow-up of 6 years, 36 patients (90%) reported either an improvement or a stabilization of their presenting symptoms. Headache improved subjectively in 11 patients (27.5%), balance and gait disturbances improved in all patients, urinary incontinence improved in 24 patients (60%), memory disturbances subjectively improved in 21 patients (52.5%), and visual deficits improved in 5 patients (12.5%). Four patients (10%) had symptom progression, which occurred 6 to 24 months after surgery with radiologic evidence of ETV failure. Conclusions LOVA is a form of hydrocephalus that must be correctly identified. A correct magnetic resonance study and comprehensive neuropsychologic assessment are crucial to identify it in order to define proper management. From our analysis, ETV represents the gold standard treatment granting rewarding results that are maintained in a long-term follow-up.

In spite of literature data stating that children with single-suture craniosynostosis have an increased risk for neuropsychological deficits, no data are present clarifying the potential risk factors. All children with non-syndromic single-suture craniosynostosis operated on from January 2014 to January 2017 were enrolled. A comprehensive neurocognitive and neuro-ophthalmological evaluation was performed before surgery and 6 months after surgery. A further neurocognitive evaluation was performed 12 months after surgery. All children had a preoperative CT/MR study. One hundred forty-two patients were enrolled; 87 are affected by sagittal craniosynostosis, 38 by trigonocephaly, and 17 by plagiocephaly. A global neurocognitive impairment was documented in 22/87 children with scaphocephaly, 5/38 children with trigonocephaly, and 6/17 children with anterior plagiocephaly. There was a significant relationship between results of the ophthalmological evaluation, global IQ, and CT findings at diagnosis (r = 0.296, p

Pregnancy is a unique experience in women’s life, requiring a great ability of adaptation and self-reorganization; vulnerable women may be at increased risk of developing depressive symptoms. This study aimed to examine the incidence of depressive symptomatology during pregnancy and to evaluate the role of affective temperament traits and psychosocial risk factors in predicting them. We recruited 193 pregnant women, collected data regarding sociodemographic, family and personal clinical variables, social support and stressful life events and administered the Mood Disorder Questionnaire (MDQ), the Patient Health Questionnaire-9 (PHQ-9), and the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-Autoquestionnaire (TEMPS-A). In our sample, prevalence of depressive symptomatology was 41.45% and prevalence of depression was 9.85% (6.75% mild and 3.10% moderate depression). We have chosen a cutoff >4 on PHQ-9 to identify mild depressive symptoms which may predict subsequent depression. Statistically significant differences between the two groups were found in the following factors: gestational age, occupation, partner, medical conditions, psychiatric disorders, family psychiatric history, stressful life events, and TEMPS-A mean scores. In our sample mean scores on all affective temperaments but the hyperthymic, were significantly lower in the control group. Only depressive and hyperthymic temperaments were found to be, respectively, risk and protective factors for depressive symptomatology. The current study confirms the high prevalence and complex aetiology of depressive symptomatology during pregnancy and suggests that affective temperament assessment seems to be a useful adjunctive instrument to predict depressive symptomatology during pregnancy and postpartum.

In Italy, psychologists and psychiatrists are beginning to observe the mental consequences in patients who were hospitalised with COVID-19 and survived. As one of the most important hospitals in Italy, Fondazione Policlinico ‘Agostino Gemelli’/Columbus COVID-19 Hospital is heavily involved in the management of the Italian COVID-19 crisis. In July 2020 an integrated psychiatric/psychological service for COVID-19 survivors was instigated. To date, 31 patients have been taken-in-charge and six are undergoing psychotherapy. We here describe preliminary impressions on common issues of COVID-19 survivors shared with us in their first sessions of psychotherapy: stigma, remaining contagious, physical and psychological sequelae, previous traumas.

Objective: The objective of the present study was to selectively evaluate the long-term impact of posterior fossa pilocytic astrocytomas, which are known to be among the most benign forms of paediatric brain tumours on neurocognitive and behavioural functions. Methods: Children that were operated on for a posterior fossa pilocytic astrocytoma in the Pediatric Neurosurgery Department of the Catholic University Medical School were selected according to the following criteria: (a) age &gt, 5 years (in order to have a complete set of neurocognitive evaluations data), (b) ability to perform a complete set of tests before and after surgery, and (c) children that had a regular follow-up up to 10 years from the surgical treatment. Results: Forty-three percent of the children selected for the present study showed a borderline IQ before surgery, which is a result corresponding to those previously reported in the literature for children affected by posterior fossa pilocytic astrocytomas, praxis and visual perception were the selective functions that were more frequently affected. Language performance tests scores were below average in 40% of the cases but tended to improve in terms of expressive and receptive skills even at the 1-year follow-up, the improvements became significant at the 5-year and 10-year follow-ups. Conclusions: Recognising and measuring the short- and long-term effects of cerebellar tumours in children and their treatment are the first step towards improving their clinical course and quality of life. Early interventions should be offered to all of them, with specific attention bestowed on visual-spatial stimulation, speech and occupational therapies in order to act on praxic and visuo-perceptive skills, as well as on emotion and behaviour tracts of the neurocognitive profile, which more commonly tend to persist in the long term.

Background. Since the identification of Couvade syndrome in the late 1950s, little attention has been dedicated to the issue of depression in expecting fathers. Objective. To quantify the extent of depression in expecting fathers and find out if they match their pregnant partners’ depression. Methods. We conducted a PubMed and ClinicalTrials.gov search using paternal depression and all its variants as terms. We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 statement to include eligible studies. Results. We identified a grand total of 1443 articles, of which 204 were eligible. The total number of fathers/expecting fathers involved was 849,913. Longitudinal studies represented more than half of the included studies; more than three-quarters of the studies used the Edinburgh Postnatal Depression Scale (EPDS). The average occurrence of paternal depression was around 5%, which confers the entity some clinical dignity. Depression tends to occur more in expecting women and new mothers than in expecting partners or new fathers, while the co-occurrence in the same couple is quite low. Limitations. The methodological heterogeneity of the included studies prevents us from meta-analyzing the obtained data. The validity of the instruments used is another issue. Conclusions. Paternal depression is distinct from maternal depression and occurs at lower rates (about half). The very existence of a paternal depression clinical entity is beyond any doubt. Future research should address methodological heterogeneity.

CHARGE syndrome (CS) is a rare genetic disease causing multiple anatomical defects and sensory impairment. Visual function is usually reported by caregivers and has never been described with a structured behavioral assessment. Our primary objective was to describe ocular abnormalities, visual function and genotype–ocular-phenotype correlation in CS. A prospective monocentric cohort study was performed on 14 children with CS carrying pathogenic CHD7 variants. All children underwent ophthalmological evaluation and structured behavioral assessment of visual function. The VISIOCHARGE questionnaire was administered to parents. Colobomas were present in 93% of patients. Genotype–phenotype correlation documented mitigated features in a subset of patients with intronic pathogenic variants predicted to affect transcript processing, and severe features in patients with frameshift/nonsense variants predicting protein truncation at the N-terminus. Abnormal visual function was present in all subjects, with different degrees of impairment. A significant correlation was found between visual function and age at assessment (p-value = 0.025). The present data are the first to characterize visual function in CS patients. They suggest that hypomorphic variants might be associated with milder features, and that visual function appears to be related to age. While studies with larger cohorts are required for confirmation, our data indicate that experience appears to influence everyday use of visual function more than ocular abnormalities do.

Interpersonal violence in the perinatal period is frequent and should be considered a prominent health issue due to the risk of escalation of violence and the significant impact on mothers’ parenting after childbirth. Domestic violence during pregnancy can be associated with fatal and non-fatal adverse health outcomes due to the direct trauma to a pregnant woman’s body and to the effect of stress on fetal growth and development. Emotional violence is a risk factor for prenatal and/or postpartum depression. Recent studies focusing on abusive situations during peripartum and possible preventive strategies were identified in PubMed/Medline, Scopus, Embase, and ScienceDirect. All of the available literature was retrospectively reviewed with a special attention to peer-reviewed publications from the last ten years. Results of the present narrative review suggest that perinatal health care professionals (general practitioners, gynecologists, obstetricians, psychologists, psychiatrists) should promptly detect interpersonal violence during and after pregnancy and provide health care for pregnant women. It seems pivotal to guarantee psychological care for abused women before, during, and after pregnancy in order to prevent the risk of depressive symptoms, other mental or physical sequelae, and mother-to-infant bonding failure. There is an urgent need for multifaceted interventions: programs should focus on several risk factors and should design tailored care pathways fitted to the specific needs of women and finalized to support them across the lifespan.

Background: early onset is frequent in Bipolar Disorders (BDs), and it is characterised by the occurrence of mixed states (or mixed features). In this systematic review, we aimed to confirm and extend these observations by providing the prevalence rates of mixed states/features and data on associated clinical, pharmacological and psychopathological features. Methods: following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we searched from inception to 9 February 2021 for all studies investigating mixed states/mixed features in paediatric BD. Data were independently extracted by multiple observers. The prevalence rates of mixed states/features for each study were calculated. Results: eleven studies were included in our review, involving a total patient population of 1365 individuals. Overall, of the patients with paediatric age BD, 55.2% had mixed states/features (95% CI 40.1–70.3). Children with mixed states/features presented with high rates of comorbidities, in particular, with Attention Deficit Hyperactivity Disorder (ADHD). Evidences regarding the psychopathology and treatment response of mixed states/features are currently insufficient. Conclusions: our findings suggested that mixed states/features are extremely frequent in children and adolescents with BD and are characterised by high levels of comorbidity. Future investigations should focus on the relationship between mixed states/features and psychopathological dimensions as well as on the response to pharmacological treatment.

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.

Experiencing various forms of violence in either childhood or adulthood has been associated with cardiovascular disease, both shortly after the event and during follow-up, particularly in women. The coronavirus disease 2019 pandemic has heightened the risk of domestic violence with serious sequelae for mental and cardiovascular health in women, possibly due to several contributing factors, ranging from lockdown, stay at home regulations, job losses, anxiety, and stress. Accordingly, it remains paramount to enforce proactive preventive strategies, at both the family and individual level, maintain a high level of attention to recognize all forms of violence or abuse, and guarantee a multidisciplinary team approach for victims of interpersonal or domestic violence in order to address physical, sexual, and emotional domains and offer a personalized care.

• Medical staff from oncology units are at high risk of burnout during COVID-19 pandemic. • The sense of belonging to the group and the contacting emotions play a central role in reducing these risks. • Gratitude is related to well-involving people who practice and receive it. • During lockdown, we adopted gratitude-focused “inter-group contact” tool.

The term autism spectrum disorder (ASD) includes a wide variability of clinical presentation, and this clinical heterogeneity seems to reflect a still unclear multifactorial etiopathogenesis, encompassing different genetic risk factors and susceptibility to environmental factors. Several studies and many theories recognize as mechanisms of autism a disruption of brain development and maturation time course, suggesting the existence of common neurobiological substrates, such as defective synaptic structure and aberrant brain connectivity. Magnetic resonance imaging (MRI) plays an important role in both assessment of region-specific structural changes and quantification of specific alterations in gray or white matter, which could lead to the identification of an MRI biomarker. In this study, we performed measurement of cortical thickness in a selected well-known group of preschool ASD subjects with the aim of finding correlation between cortical metrics and clinical scores to understand the underlying mechanism of symptoms and to support early clinical diagnosis. Our results confirm that recent brain MRI techniques combined with clinical data can provide some useful information in defining the cerebral regions involved in ASD although large sample studies with homogeneous analytical and multisite approaches are needed.

Introduction Electrical source imaging (ESI) and especially hdEEG represent a noninvasive, low cost and accurate method of localizing epileptic zone (EZ). Such capability can greatly increase seizure freedom rate in surgically treated drug resistant epilepsy cases. Furthermore, ESI might be important in intracranial record planning. Case report We report the case of a 15 years old boy suffering from drug resistant epilepsy with a previous history of DNET removal. The patient suffered from heterogeneous seizure semiology characterized by anesthesia and loss of tone in the left arm, twisting of the jaw to the left and dysarthria accompanied by daze; lightheadedness sometimes associated with headache and dizziness and at a relatively short time distance negative myoclonus involving the left hand. Clinical evidence poorly match scalp and video EEG monitoring thus requiring hdEEG recording followed by SEEG to define surgical target. Surgery was also guided by ECoG and obtained seizure freedom. Discussion ESI offers an excellent estimate of EZ, being hdEEG and intracranial recordings especially important in defining it. We analyzed our results together with the data from the literature showing how in children hdEEG might be even more crucial than in adults due to the heterogeneity in seizures phenomenology. The complexity of each case and the technical difficulties in dealing with children, stress even more the importance of a noninvasive tool for diagnosis. In fact, hdEEG not only guided in the presented case SEEG planning but may also in the future offer the possibility to replace it.

This narrative review highlights the latest achievements in the field of tele-rehabilitation: Virtual Reality (VR) and Augmented Reality (AR) serious games aimed at restoring and improving cognitive functions could be effectively used in Developmental Coordination Disorder Training. Studies investigating the effects of the abovementioned tech applications on cognitive improvement have been considered, following a comprehensive literature search in the scientific electronic databases: Pubmed, Scopus, Plos One, ScienceDirect. This review investigates the effects of VR and AR in improving space/motor skills through mental images manipulation training in children with developmental coordination disorders. The results revealed that in spite of the spreading of technology, actually only four studies investigated the effects of VR/AR tools on mental images manipulation. This study highlights new, promising VR and AR based therapeutic opportunities for digital natives now available, emphasizing the advantages of using motivational reward-oriented tools, in a playful therapeutic environment. However, more research in this filed is needed to identify the most effective virtual tool set for clinical use.

This study aims at investigating the nature of resilience and stress experience of health care workers during the COVID-19 pandemic. Thirteen healthcare workers from Italian and Austrian hospitals specifically dealing with COVID-19 patients during the first phase of the pandemic were interviewed. Data was analysed using grounded theory methodology. Psychosocial effects on stress experience, stressors and resilience factors were identified. We generated three hypotheses. Hypothesis one is that moral distress and moral injury are main stressors experienced by healthcare workers. Hypothesis two states that organisational resilience plays an important part in how healthcare workers experience the crisis. Organisational justice and decentralized decision making are essential elements of staff wellbeing. Hypothesis three refers to effective psychosocial support: Basic on scene psychosocial support based on the Hobfoll principles given by trusted and well-known mental health professionals and peers in an integrated approach works best during the pandemic.

Background: Psychopathological dimensions contributing to suicidal ideation in young age are poorly understood. We aimed to investigate the involvement of emotional dysregulation and temperament in suicide risk in a sample of accurately selected young patients with mood disorders and a matched sample of healthy controls (HC). Methods: We assessed 50 young patients (aged 14–25 years) with DSM-5 bipolar or depressive disorders for clinical and psychopathological characteristics and 82 age and sex, educational level, and smoking habits-matched HC. Emotional dysregulation and temperament were assessed using the Difficulties in Emotion Regulation Scale (DERS) and the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-Autoquestionnaire (TEMPS-A-39), respectively. We tested their associations with suicidal ideation, using standard univariate/bivariate methods, preceded by overall multivariate analysis. Results: In the group of patients, 24 (48%) reported lifetime suicide ideation (LSI). Patients with LSI scored higher on emotional dysregulation (p &lt, 0.001) and cyclothymic (p &lt, 0.001), irritable (p = 0.01), and hyperthymic temperaments (p = 0.003) than HC. Patients with LSI specifically presented with more emotional dysregulation (p &lt, 0.001) and cyclothymic temperament (p = 0.001), than patients without LSI (N = 26). Conclusions: Temperamental features, in particular cyclothymic temperament, and emotion dysregulation may represent independent factors for increased vulnerability to lifetime suicidal ideation in young adults with mood disorders.

Background: The coronavirus disease 2019 pandemic represents an unprecedented traumatic stressor to mental health. Psychological distress is considered a reliable proxy for psychopathology and can be negatively influenced by childhood trauma through sensitization effects. Emotion dysregulation has been proposed as a potential mediator of this mechanism. We aimed to test this hypothesis in a national Italian sample assessed in the early phase of the coronavirus disease 2019 outbreak. Methods: We investigated the relationship between psychological distress and childhood trauma in 500 healthy participants assessed through a survey-based study, after the coronavirus disease 2019 pandemic lockdown in Italy. Levels of psychological distress and history of childhood trauma were obtained using the Kessler-10 (K10) and the Childhood Trauma Questionnaire, respectively. We used bootstrapped mediation analysis to test the mediator role of emotional dysregulation, measured through the Difficulties in Emotion Regulation Scale, on the effect of childhood trauma on psychological distress. Results: In total, 190 (38%) reported psychological distress related to the coronavirus disease 2019 outbreak. Individuals with psychological distress experienced more childhood trauma, specifically emotional abuse ( F = 23.51, df = 1, p Conclusion: Childhood trauma is associated with increased vulnerability to the stressful effect of the coronavirus disease 2019 outbreak. Our data suggest that emotional dysregulation may represent a dimension mediating the impact of childhood trauma on coronavirus disease 2019-related psychological distress and may be considered as specific target for interventions aiming at empowering resilience.

The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS). Thirty-four patients from seven Italian tertiary pediatric neurology centers were enrolled in the study. All patients were examined for the SCN1A gene mutation and prospectively assessed from the first years of life with repeated full clinical observations including neurological and developmental examinations. Subjects were found to follow three neurodevelopmental trajectories. In the first group (16 patients), an initial and usually mild decline was observed between the second and the third year of life, specifically concerning visuomotor abilities, later progressing towards global involvement of all abilities. The second group (12 patients) showed an earlier onset of global developmental impairment, progressing towards a generally worse outcome. The third group of only two patients ended up with a normal neurodevelopmental quotient, but with behavioral and linguistic problems. The remaining four patients were not classifiable due to a lack of critical assessments just before developmental decline. The neurodevelopmental trajectories described in this study suggest a differential contribution of neurobiological and genetic factors. The profile of the first group, which included the largest fraction of patients, suggests that in the initial phase of the disease, visuomotor defects might play a major role in determining developmental decline. Early diagnosis of milder cases with initial visuomotor impairment may therefore provide new tools for a more accurate habilitation strategy.

Intimate partner violence has been recognized as a serious public health issue. Exposure to violence contributes to the genesis of, and exacerbates, mental health conditions, and existing mental health problems increase vulnerability to partner violence, a loop that imprisons victims and perpetuates the abuse. A recently described phenomenon is when male violence against females occurs within intimate relationships during youth, and it is termed adolescent or teen dating violence. In this narrative review, factors associated with intimate partner violence and consequences of exposure of children to parental domestic violence are discussed, along with possible intensification of violence against women with the spread of coronavirus disease 2019 pandemic and subsequent lockdown. Intervention programs with a multicomponent approach involving many health care settings and research have a pivotal role in developing additional strategies for addressing violence and to provide tailored interventions to victims. Prevention policy with a particular attention on healthy child and adolescent development is mandatory in the struggle against all forms of violence.

The outbreak of COVID-19 is severely affecting mental health worldwide, although individual response may vary. This study aims to investigate the psychological distress perceived by the Italian general population during the early phase of the COVID-19 pandemic, and to analyze affective temperament and adult attachment styles as potential mediators. Through an online survey, we collected sociodemographic and lockdown-related information and evaluated distress, temperament, and attachment using the Kessler 10 Psychological Distress Scale (K10), the Temperament Evaluation of Memphis, Pisa, Paris and San Diego-Autoquestionnaire short version (TEMPS-A) and the Attachment Style Questionnaire (ASQ). In our sample (n = 500), 62% of the individuals reported no likelihood of psychological distress, whereas 19.4% and 18.6% displayed mild and moderate-to-severe likelihood. Cyclothymic (OR: 1.24; p < 0.001), depressive (OR: 1.52; p < 0.001) and anxious (OR: 1.58; p = 0.002) temperaments, and the ASQ “Need for approval” (OR: 1.08; p = 0.01) were risk factors for moderate-to-severe psychological distress compared to no distress, while the ASQ “Confidence” (OR: 0.89; p = 0.002) and “Discomfort with closeness” were protective (OR: 0.92; p = 0.001). Cyclothymic (OR: 1.17; p = 0.008) and depressive (OR: 1.32; p = 0.003) temperaments resulted as risk factors in subjects with moderate-to-severe psychological distress compared to mild distress, while the ASQ “Confidence” (OR: 0.92; p = 0.039) and “Discomfort with closeness” (OR: 0.94; p = 0.023) were protective. Our data indicated that a relevant rate of individuals may have experienced psychological distress following the COVID-19 outbreak. Specific affective temperament and attachment features predict the extent of mental health burden. To the best of our knowledge, these are the first data available on the psychological impact of the early phase of the COVID-19 pandemic on a sizeable sample of the Italian population. Moreover, our study is the first to investigate temperament and attachment characteristics in the psychological response to the ongoing pandemic. Our results provide further insight into developing targeted intervention strategies.

The aim of our study was to use a combined imaging and clinical approach to identify possible patterns of clinical and imaging findings in a cohort of preschool age autism spectrum disorder (ASD) patients. In order to identify imaging patterns that could be related to specific clinical features, a selected group of ASD patients (age range 3-6 years) without dysmorphic features, epilepsy or other major neurological signs, malformations or other lesions at MRI was subjected to brain volumetric analysis using semiautomatic brain segmentation. An age-matched group of typically developing children was subjected to the same analysis. Our results were consistent with previous literature: Total gray matter volume, total cortical gray matter volume and amygdalar volumes were significantly greater in the ASD group than the control group. When we divided the study group into subgroups on the basis of clinical findings such as high- or low-functioning, or verbal and nonverbal, the only significant difference between verbal and nonverbal subjects was in cerebellar hemispheric size. In conclusions, our results confirm that newer brain MRI techniques using semiautomatic brain segmentation can provide information useful for defining the differences between ASD patients and controls, particularly if they form part of an integrated approach between MRI and cognitive-behavioral and genetic data. Clin. Anat. 32:143-150, 2019. © 2018 Wiley Periodicals, Inc. HIGHLIGHTS: Combined imaging and clinical approach in autism spectrum disorders Semiautomatic brain segmentation in a selected preschool age ASD group Reduced total cerebellar white matter volume in non-verbal ASD patients.

Obesity is a chronic, relapsing disease representing a major global health problem in the 21st century. Several etiologic factors are involved in its pathogenesis, including a Western hypercaloric diet, sedentariness, metabolic imbalances, genetics, and gut microbiota modification. Lifestyle modifications and drugs often fail to obtain an adequate and sustained weight loss. To date, bariatric surgery (BS) is the most effective treatment, but only about 1% of eligible patients undergo BS, partly because of its negligible morbidity and mortality. Endoscopic sleeve gastroplasty (ESG) is a minimally invasive, endoscopic, bariatric procedure, which proved to be safe and effective. In this review, we aim to examine evidence supporting the role of a personalized and multidisciplinary approach, guided by a multidisciplinary team (MDT), for obese patients undergoing ESG, from patient selection to long-term follow-up. The cooperation of different health professionals, including an endocrinologist and/or obesity medicine physician, a bariatric surgeon, an endoscopist experienced in bariatrics, a registered dietitian, an exercise specialist, a behaviour coach, a psychologist, and a nurse or physician extender, aims to induce radical and sustained lifestyle changes. We also discussed the relationship between gut microbiota and outcomes after bariatric procedures, speculating that the characterization of gut microbiota before and after ESG may help develop new tools, including probiotics, to optimize weight loss outcomes.

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age. Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy.

Cobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to define early neurodevelopment in cblC patients and the possible contribution of different factors, such as mode of diagnosis, age at diagnosis, presence of brain lesions and epilepsy. Children up to the age of 4 years with a visual acuity ≥1/10 were evaluated using the Griffiths' Mental Development Scales. Eighteen children were enrolled (age range 12-48 months). Four were diagnosed by newborn screening (NBS); in the others mean age at diagnosis was 3.5 months (range 0.3-18 months). Eight had seizures: three in the first year, and five after the second year of life. Fourteen had brain lesions on magnetic resonance imaging (MRI). Neurovisual assessment evidenced low visual acuity (

Background: Several surgical techniques are used for the management of Chiari malformation type I (CM-I). Bony posterior fossa decompression is considered a good option in children, though with a higher risk of requiring reoperation. However, there is not enough evidence from the series in the literature, which are often limited by inadequate follow-up. The goal of this study was to assess the effectiveness of suboccipital craniectomy alone in children after long-term follow-up.

An up-to-date review on neuropsychological phenotypes in Dravet syndrome is reported. After recalling the results of various though not numerous studies in the literature, primarily retrospectively, the hypothesis of an original neuropsychological phenotype in Dravet syndrome is presented, consisting of a defect in sensorimotor integration, especially of visuoconstructive abilities. That is particularly evident in the less impaired patients and in the first several years of life. This core phenotype is eventually considered inside the analysis of the etiological multifactorial origin of the cognitive decline, which is especially expressed by the encephalopathy/channelopathy controversy.

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.

Summary Objective The study aims at a better definition of continuous spike–waves during sleep (CSWS) with an early thalamic lesion, focusing on various grades of sleep-potentiated epileptiform activity (SPEA). Their possible relationship with different clinical features was studied to try to define prognostic factors of the epileptic disorder, especially relating to behavior/cognitive outcome, in order to improve prevention and treatment strategies. Methods Sixty patients with early thalamic injury were followed since the first registration of SPEA with serial neurological, long term EEG monitoring and neuropsychological examinations, as well as neuroimaging and a detailed clinical history. They were classified in three different groups according to the sleep spike–waves (SW) quantification: electrical status epilepticus during sleep (ESES), more than 85% of slow sleep; overactivation between 50% and 85% and simple activation between 10 and 50%). Results were then examined also with a statistical analysis. Results In our series of CSWS occurring in early brain injured children with unilateral thalamic involvement there is a common neuropathologic origin but with various grades of SPEA severity. Statistical analysis showed that patients evolving toward ESES presented more commonly the involvement of the mediodorsal part of thalamus nuclei and a bilateral cortico-subcortical brain injury, epilepsy was more severe with a delayed onset; moreover, in the acute stage .ESES patients presented the worst behavior/cognitive performances. As to cognitive and behavior outcome, longer SPEA duration as well as bilateral brain injury and cognitive/behavior impairment in acute phase appear linked to a poor outcome; some particular neuropathology (ischemic stroke and haemorrhagic infarction) as well as hydrocephalus shunting are associated with behavior disorders. Conclusions Discrete features seem to support different underlying mechanisms in ESES patients in comparison with less severe SPEA; they represent negative prognostic factors. Longer SPEA duration as well as bilateral brain injury and cognitive/behavior impairment in acute phase seem predictive of a worse cognitive/behavior outcome.

A group of five DS patients whose first development was already reported were longitudinally followed up till the scholar age. Beside the general and epileptic clinical evolution, visual and cognitive functions were investigated in order to define their trajectory and possibly provide information about mechanisms of cognitive decline as well as to improve prognosis and tertiary prevention. Neuropsychological assessment was performed with a test battery investigating the development of visual function that progressively integrates into extrastriate components and higher cognitive skills (global form and motion coherence, stereopsis, crowding cards, ABCDEFV battery, general intelligence and specific cognitive tests). Main results showed a fall in visuo-motor items including global motion coherence and specific cognitive skills, presenting a continuity of the visual function deterioration extended from basic abilities to visuo-motor dorsal pathway skills. Moreover, a case whose previous visual and cognitive functions had been in the normal range began showing a visual deterioration with increasing age, followed by the cognitive decline; that prevents from excluding in early ages a poor development in presence of a normal visual function. A dorsal stream vulnerability seems thus shown in this sample of DS patients, like in other genetic syndromes (Williams, Prader Willi. fragile-X), providing new information about mechanisms underlying cognitive decline and suggesting a possible strategy to improve their neuropsychological outcome. Larger cohorts may confirm whether these findings are part of a specific pattern of DS neuropsychological phenotype.

Object Functional involvement of the thalamus in cognitive processing has been only anecdotally reported in the literature, and these cases are mostly related to thalamic hemorrhages; there is no available information on cognitive development in children with thalamic tumors. Methods All children admitted with a diagnosis of thalamic tumor at the authors' institution between January 2008 and January 2011 were considered for the present study. Exclusion criteria were age less than 18 months and the presence of severe neurological deficits, both of which prevented a reliable neuropsychological evaluation. A complete preoperative neuropsychological evaluation was performed. Results Twenty children were selected (mean age 102.4 months). Total IQ was in the normal range in all patients (mean 90.1, SD 13.87) with a significant difference between verbal IQ (mean 97.70, SD 17.77) and performance IQ (mean 84.82, SD 17.01). A significant correlation was found between global cognitive impairment and a histological finding of low-grade tumors (p < 0.001). Children with a mesial thalamic tumor had a higher working memory deficit and delayed recall disorders (p < 0.001). Naming disorders were related to the presence of a bilateral (p < 0.001) or mesial (p < 0.001) thalamic tumor, without a significant difference between left or right hemisphere involvement. A significant correlation was also found between the presence of neurolinguistic disorders and mesially located tumors (p < 0.001). Children with right-sided tumors more frequently had constructional apraxia and executive function disorders (p < 0.001). Conclusions The present study suggests that thalamic tumors in different locations might have specific neuropsychological profiles.

Summary Purpose The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern. Methods Nine children with DS without major behavioural disturbances and with cognitive abilities compatible with the assessment of specific cognitive skills (IQ > 45) were enrolled in the study, in parallel with another group of nine epileptic patients (cryptogenic or symptomatic with minor brain injuries) consecutively admitted into the hospital matched for chronological age and IQ. All cases underwent neurological examination, long term EEG monitoring, neuroimaging and genetic analysis as well as a neuropsychological assessment including specific cognitive skills. Results On neurological examination 8 of the 9 DS patients had cerebellar signs, which were mild in six and more severe in the other two cases. DS patients had a constant discrepancy between verbal and performance items scales (verbal better than visual-spatial) that was not found in the control group. As to specific cognitive competence, the DS patients differ from the control group in the pattern of cognitive defects involving four main areas of cognitive abilities (a) expressive language with relatively spared comprehension, (b) visual-spatial organization, (c) executive function defects, (d) behavioural disorders. Cunclusions The pattern of cognitive difficulties found in DS patients is consistent with what is reported in literature as cerebellar cognitive syndrome and may account for a possible cerebellar origin (at least as co-factor) of the cognitive decline observed in DS patients, as suggested by other clinical and experimental studies.

The objective of the present study was to retrospectively evaluate the relationship between tumor grading and a selective evaluation of neurocognitive and behavioral functions in children with supratentorial hemispheric brain tumors. Children admitted with a diagnosis of supratentorial hemispheric tumors involving the cerebral hemispheres or the thalamus at the Pediatric Neurosurgery Unit of the Catholic University of Rome between January 2008 and January 2014 were considered for the present study. Exclusion criteria were represented by age less than 2 years, severe neurological deficits, seizures, and a metastatic disease. A selective neurocognitive and behavioral workout was used for children aged less and more than 5 years. Global cognitive functions as well as selective neurocognitive and behavioral profiles were found to be significantly worse in children with low-grade tumors, compared with those affected by higher-grades histotypes. Frontal locations for cortical tumors and thalamic lesions were significantly related with worse results, with a clear contribution of dominant vs. nondominant hemisphere involvement and an age higher than 5 years. Preoperative global and selective neurocognitive evaluation might contribute to the prediction of the tumor aggressiveness. Due to a longer clinical history, more benign tumors more frequently arrive to the diagnosis with a neurocognitive compromise in spite of an apparently mild presence of neurological symptoms and signs.

The aim of this study was to investigate language disorders prospectively in patients with Dravet syndrome (DS) during the first years of life in order to identify their features and possibly the underlying mechanisms of the disease. At the Child Neurology Unit of Catholic University in Rome (Italy), thirteen patients with typical findings of DS were enrolled in the study. Full clinical observations, including neurological examination and long-term EEG monitoring, were prospectively and serially performed until a mean of 6years of age (range: 4years to 7years and 8months). The epileptic history was also collected in each case. In particular, developmental, cognitive, and detailed language assessments were performed with different tests according to the age of the patient. In addition to cognitive decline, characteristic language impairment was also found with a relative preservation of receptive abilities (comprehension) and a strong impairment of productive skills. This defect in sensorimotor verbal processing integration is discussed to highlight the possible mechanisms underlying cognitive decline.

Object The authors evaluated the results of complete cognitive function examinations in a series of 65 adolescents who had undergone surgery for sagittal or unicoronal craniosynostosis when they were younger than 1 year old. Methods Each of the 65 study participants was evaluated individually. The neuropsychological assessment, consisting of a battery of tests tailored to the patient's age, cognitive level, and level of cooperation, was conducted in 2 separate sessions on the same day. The main outcome measures included fine motor skills, language, visual motor spatial and visual perceptual skills, working and visual memory, attention, executive function, and verbal fluency. Results Thirty-five children (mean age 13.4 years) were affected by sagittal synostosis and 30 (mean age 14.9 years) by unicoronal synostosis (16 right-sided, 14 left-sided). The mean age at surgery was 7.2 months. All of the children had begun school at a normal age and attended regular classes. Seven percent of those with sagittal craniosynostosis demonstrated visuospatial and constructional ability defects with associated visual memory recall deficits; 17% also exhibited selective and sustained attention deficits. Approximately one-third (30%) of the children with anterior plagiocephaly had processing and planning speech deficits. Conclusions Data in this study support the hypothesis that children with sagittal or unicoronal craniosynostosis, although they undergo early surgical treatment, may still manifest lower than average results at long-term selective neuropsychological evaluations.

The authors report their experience about a neuro-cognitive and epileptic long-term follow-up of children with catastrophic epilepsy treated with hemispherectomy in the first 5 years of life. Nineteen children with resistant epilepsy that significantly interfered with their neuro-cognitive development underwent hemispherectomy within 5 years of life (mean: 2 years, 3 months; range: 5 months to 5 years). All patients were assessed before surgery and after, at least at the end of the follow-up (mean: 6 years and 6 months; range: 2-11 years and 2 months) with a full clinical examination including motor ability and functional status evaluation as well as behaviour observation, neuroimaging and an ictal/interictal prolonged scalp video-EEG. A seizure-free outcome was obtained in 73.7% of patients. Gross motility generally improved and cognitive competence did not worsen, with an evident progress in two cases. Consistently with previous reports, evolution was worse in cortical dysplasia than in progressive or acquired vascular cerebropathies. The excellent epileptic outcome and the lack of developmental deterioration in comparison with other more aged series seem to suggest a possible better evolution in earlier surgery treatment. To confirm this suggestion, however, further experience with larger series is needed.

The aim of the study was to analyse the semiology of seizures in children with frontal lobe epilepsy (FLE) and to compare them with other paediatric cohorts described in the literature as well as with adult counterparts. We analysed 174 registered seizures of 18 cases under 12 years with lesional epilepsy whose frontal origin was defined by the concordance of neuroimaging and ictal electrographic findings, and confirmed by surgery in the six cases operated on. Seizures were generally short, with a high daily frequency and usually related to sleep. The most characteristic semiological pattern consisted of complex motor seizures, particularly hypermotor. Often seizures corresponded to a mixture of different semiological patterns (tonic, gelastic, automotor, hypermotor, versive) presenting in the same seizure, often as a unique type in the same patient. With regard to several aspects the semiology of FLE in our cohort looks like that reported in adult series, in particular as to the frequency of complex motor seizures. However, our cohort was also characterised by a more protean array of seizure semiology, stressing the occurrence of seizures typically present in adults (versive and complex motor) and of some seizure patterns more characteristic in children such as epileptic spasms; moreover, the rare occurrence of secondarily generalised tonic clonic seizures (SGTCS) was confirmed.

Cerebellar mutism (CM) is defined as a peculiar form of mutism that may complicate the surgical excision of posterior cranial fossa tumor. The incidence is variable in the literature, occurring in up to one third of cases in some series. Commonly occurring peculiar features of CM are delayed onset following surgery, limited duration, and spontaneous recovery usually associated with dysarthria.A review has been performed concerning anatomical substrates and circuits actually considered to be involved in the development of cerebellar mutism, as well as risk factors for its development that have been documented in the literature. Attention has also been given to the long-term prognosis and the possibilities of rehabilitation that can be considered in these children, which has been compared with the authors' institutional experience.Tumor infiltration of the brainstem seems to represent the most relevant feature related to the development of CM, along with the histological diagnosis of medulloblastoma. On the other hand, hydrocephalus does not represent an independent risk factor. The higher rate of CM in children seems to be related to the higher incidence in children of tumors with malignant histology and brain stem involvement. Surgical technique does not seem to have a definite role; in particular, the use of a telovelar approach as compared to vermian split to reach the fourth ventricle extension of the tumor has not been demonstrated to prevent the development of cerebellar mutism. Concerning long-term prognosis, around one third of the children who develop cerebellar mutism after surgery have a persistent dysarthria, the remaining ones showing a residual phonological impairment. Long-term dysarthric features tend to be more severe and less prone to recovery in children presenting at diagnosis with associated combined procedural memory and defective neurocognitive functions.

ObjectiveNeurodevelopmental and cognitive difficulties are known to occur frequently in boys with Duchenne muscular dystrophy but so far none of the published studies have reported both early neurodevelopmental assessments and cognitive tests in the same cohort. The aim of the present longitudinal study was to establish the correlation between early neurodevelopmental assessments performed in preschool boys and the cognitive scales performed at school age or later.MethodsWe performed cognitive tests at school age (mean age 5.7 year ±1.7 SD) (69 months+19 SD) in a cohort of Duchenne boys, previously assessed using the Griffiths scales before the age of 4 years (mean age when the Griffiths scales were performed 30 months ±8.9 SD).ResultsThe range of total Developmental quotients on the Griffiths ranged between 56 and 116 (mean 89 ± 15.6 SD). The total Intelligence Quotients on the Wechsler scales ranged between 35 and 119 (mean 87 ± 17.2 SD). There was a significant correlation between the findings on the two scales. P = ConclusionsOur results confirm that Duchenne boys tend to slightly underperform on both neurodevelopmental and cognitive assessments. Early neurodevelopmental findings correlated with the cognitive results obtained at school age with a clear concordance between subscales exploring similar domains on the two scales.

The authors present the case of an adolescent affected with refractory epilepsy due to a neonatal ischemic infarction of the right medial cerebral artery. Hemiplegic since the first months of life, she began presenting motor partial seizures associated with drop attacks at 4.5 years; these were initially well controlled by antiepileptic drugs, but at 10 years seizures appeared again and became refractory. Thus, at 14 years and 10 months, she was submitted to a right hemispherectomy that made her rapidly seizure free. In the post-surgical follow-up lasting 5 years, neuropsychological serial assessments showed an impressive progressive improvement of cognitive skills, namely, visuospatial abilities. This case seems to challenge the widely spread feeling that functional catch-up in brain-injured children could only occur early in life. In effect, the astonishing recovery especially of visuospatial skills in our case occurred in adolescence after a late surgical intervention of right hemispherectomy. Different neuropsychological aspects are discussed. The reorganisation process recovered the spatial and linguistic abilities as well as the verbal and visuospatial memory; however, there was a persistent impairment of complex spatial and perceptual skills as well as recall abilities. Despite the deficit of complex visual stimuli processing, the patient showed a good performance in the recognition of unknown faces. Probably, the absence of seizures in the first 4 years of life could have allowed a generally adequate compensatory reorganisation, successively masked by the persistent and diffuse epileptic disorder. The seizure control produced by surgery eventually made evident the effectiveness of the brain reorganisation.

Functional involvement of the thalamus in cognitive processing has been only anecdotally reported in the literature, and these cases are mostly related to thalamic hemorrhages; there is no available information on cognitive development in children with thalamic tumors.All children admitted with a diagnosis of thalamic tumor at the authors' institution between January 2008 and January 2011 were considered for the present study. Exclusion criteria were age less than 18 months and the presence of severe neurological deficits, both of which prevented a reliable neuropsychological evaluation. A complete preoperative neuropsychological evaluation was performed.Twenty children were selected (mean age 102.4 months). Total IQ was in the normal range in all patients (mean 90.1, SD 13.87) with a significant difference between verbal IQ (mean 97.70, SD 17.77) and performance IQ (mean 84.82, SD 17.01). A significant correlation was found between global cognitive impairment and a histological finding of low-grade tumors (p0.001). Children with a mesial thalamic tumor had a higher working memory deficit and delayed recall disorders (p0.001). Naming disorders were related to the presence of a bilateral (p0.001) or mesial (p0.001) thalamic tumor, without a significant difference between left or right hemisphere involvement. A significant correlation was also found between the presence of neurolinguistic disorders and mesially located tumors (p0.001). Children with right-sided tumors more frequently had constructional apraxia and executive function disorders (p0.001).The present study suggests that thalamic tumors in different locations might have specific neuropsychological profiles.