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Purpose: This cross-sectional monocentric study aims to utilize the Early Childhood Attention Battery to investigate early attention patterns in young preterm children and ascertain the extent to which their attentional abilities diverge from those of term peers., Methods: Inclusion criteria encompassed gestational age < 34 weeks, with assessments conducted between 3 and 5 years 11 months. Exclusion criteria included major brain lesions, significant motor or behavioral disorders, and intellectual functioning with IQ < 70. Preterm raw scores converted to scaled scores and percentiles. Frequency analysis compared preterm scores to norms. Non-parametric tests assessed significance between scaled scores and subgroups (age, gestational age, sex, birth weight)., Results: One hundred nineteen preterm patients were enrolled in the study between November 2016 and June 2023. Comparisons with published norms showed lower mean scores across all subtests and domains for preterm children. A notable proportion of assessments (13-40%) fell below the 5th percentile, with the dual task item in sustained attention being the highest (40%). Sex did not predict differences, except for auditory sustained and visual search subtests. Gestational age did not correlate with abnormal scores, consistent with previous studies. The prevalence of assessments below the 5th percentile highlights preterm children's vulnerability to attention issues. The test's sensitivity to attention deficits in preterm populations suggests its potential in identifying at-risk children early for tailored interventions., Conclusions: The battery effectively detects attentional deficits in preterm children. Early detection and targeted insights support tailored educational interventions. By focusing on specific attention skills, the battery guides clinicians in choosing individualized or group activities based on areas most affected., What Is Known: • Attention is often impaired in preterm children but it is not systematically investigated before school age. The ECAB is a tool specifically designed for preschool children., What Is New: • Using the ECAB we evidenced a different level of attention between pre-term and term-born children at preschool age., Competing Interests: Declarations Conflict of interest The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: This study investigated the prevalence and determinants of psychosocial distress among hospitalized patients undergoing radiotherapy to identify opportunities for interventions to enhance patient well-being., Methods: Between January 2021 and May 2023, 137 hospitalized patients received radiotherapy treatment at the Department of Radiation Oncology of the Fondazione A. Gemelli IRCCS were recruited. Participants completed a questionnaire comprising the Distress Thermometer (DT) and the Hospital Anxiety and Depression Scale (HADS)., Results: The study revealed a significant correlation among anxiety, depression, total HADS scores, and Distress Thermometer scores (p < 0.001). Female patients exhibited higher total HADS scores and anxiety levels compared to males (p < 0.004, p < 0.010, respectively). Sleep disturbances were associated with increased anxiety, depression, and overall distress (p < 0.05). Younger patients (< 65 years old) demonstrated elevated anxiety and depression levels, while no significant depressive tendency was observed among older participants (> 65 years old)., Conclusion: These findings underscore the intricate interplay between demographic variables, psychological distress, and treatment-related symptoms among patients during radiotherapy treatments. The study highlights the critical necessity of promptly identifying and addressing psychosocial distress in this population. It suggests that implementing a psychological therapeutic approach, particularly one focused on support, could effectively deter the onset of depression, especially among younger patients. Future research should focus on longitudinal studies to explore distress trajectories and interventions' effectiveness in mitigating distress, with collaborative efforts to translate research findings into evidence-based clinical practice for improved patient care., Competing Interests: Declarations Ethics approval All participants gave their informed consent for inclusion before they participated in the study. The study was conducted in accordance with the Declaration of Helsinki, and the protocol was approved by the Ethics Committee of the Fondazione Policlinico Universitario A. Gemelli IRCCS (ID 5913, Prot. N. 0030394/23 – 26/10/2023). Conflict of interest The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

As part of an international project aimed at improving the characterization of brain involvement in Duchenne and Becker Muscular Dystrophies, a group of clinicians, researchers and family associations held multiple meetings between March 2021 and March 2024 to identify and reach a consensus on the possible tools that could assess the spectrum of neurocognitive and neurobehavioral brain comorbidities in dystrophinopathies. Consensus was achieved on which of these tools should be used across different settings, ranging from screening to clinical practice and scientific research. Screening questionnaires were found to be valuable not only for providing epidemiological data but also for raising awareness among the Duchenne community and professionals. More standardised and detailed online questionnaires, combined with in-depth clinical assessments can help better identify the profile of brain comorbidities and plan appropriate interventions. Additionally, the information gathered from assessing multiple features of brain involvement can be used to explore correlations with other aspects, such as the regional expression of the different dystrophin isoforms, brain imaging, and the animal models deficient in these isoforms., Competing Interests: Declaration of competing interest The authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article., (Copyright © 2024.)

Introduction : The rapid spread of the COVID-19 pandemic has had a significant impact on the psychological well-being of millions of people around the world, and even more so among children. Contracting SARS-CoV-2, resulting in home confinement and restrictions on daily and school activities, led to negative effects on the mental health of the paediatric population. Although children suffering from COVID-19 had milder general symptoms compared to adults, impairments in cognitive, neuropsychological, and emotional-behavioural development were noted. Objective : The main aim of the present study was to detect possible changes in the neuropsychological and emotional-behavioural development of children after infection with the SARS-CoV-2 virus. The second aim was to investigate possible relationships between cognitive abilities and psychosocial characteristics. Methods : A total of 40 patients aged 8-9 years were recruited and divided into two groups: children who contracted (CG) and did not contract (NCG) SARS-CoV-2. The BVN 5-11 (Neuropsychological evaluation battery for developmental age from 5 to 11 years) instrument was administered to assess attention, memory, verbal recall, planning, phonemics, and categorical fluency domains in the paediatric population. Data on changes in emotional-behavioural profile and daily activities were collected through a questionnaire to parents. Results : The Wilcoxon signed-rank test revealed a significant change in mood after the COVID-19 period only in the CG participants ( p = 0.019). However, the neuropsychological performance of the two identified groups on BVN 5-11 sub-items was below the cutoff of clinical significance. Correlations were found between sub-items of the BVN 5-11 battery, extracurricular activities, and children's psycho-motor development. Significant positive correlations were observed between Naming on visual presentation and Reading time ( p = 0.006), backward digit span and time of motor activity ( p = 0.009), Visual attention and Reading time ( p = 0.048), and Phonemic fluency and time observed using devices ( p = 0.030). Positive statistically significant correlations were also found between Mood and Free behaviour ( p = 0.000), between Mood and Structured behaviour ( p = 0.005), and between Mood and peer Interaction ( p = 0.013). Conclusions : SARS-CoV-2 infection negatively affected the emotional development of children contracting the virus. The neuropsychological functioning of the paediatric population was influenced by psychosocial variables and time spent on daily activities, which played a protective role in children's cognitive development.

Dystonia is a movement disorder in which sustained muscle contractions give rise to abnormal postures or involuntary movements. It is a disabling and disfiguring disorder that affects activities of daily living and gives people a bizarre appearance often associated with psychological morbidity, embarrassment and social avoidance. Intramuscular injection of botulinum toxin (BoNT) is the most effective treatment for motor symptoms in focal dystonia, but little is known about its impact on the psycho-social dimension. The main aim of this study was to evaluate psycho-social changes in patients with focal dystonia after starting BoNT treatment using self-reported scales. The Beck Depression Inventory (BDI-II), the 36-Item Short Form Health Survey (SF-36), the Body Uneasiness Test (BUT), the State-Trait Anxiety Inventory (STAI) and the Visual Analogue Scale (VAS) assessing body self-image, satisfaction with physical aspects, social avoidance, self-reported depression, and self-distress were completed by 11 patients with dystonia and 9 patients with hyperhidrosis as a control group before BoNT (T0). VAS was then performed after four weeks (T1) to assess whether BoNT induced changes in the psychosocial dimension. Our results showed that only depressive symptoms and rumination about body defects improved in patients with dystonia after BoNT treatment, while improvement in self-distress and satisfaction with physical aspects was also found in hyperhidrosis. Individuals with hyperhidrosis experience poorer psychological well-being and suffer from higher levels of distress compared to dystonic patients. This suggests that individuals with this disabling condition are more vulnerable to social impact than dystonic patients., (© 2024. The Author(s).)

Background: Interstitial cystitis/bladder pain syndrome (IC/BPS) is an at least 6-mo noninfectious bladder inflammation of unknown origin characterized by chronic suprapubic, abdominal, and/or pelvic pain. Although the term cystitis suggests an inflammatory or infectious origin, no definite cause has been identified. It occurs in both sexes, but women are twice as much affected., Aim: To systematically review evidence of psychiatric/psychological changes in persons with IC/BPS., Methods: Hypothesizing that particular psychological characteristics could underpin IC/BPS, we investigated in three databases the presence of psychiatric symptoms and/or disorders and/or psychological characteristics in patients with IC/BPS using the following strategy: ("interstitial cystitis" OR "bladder pain syndrome") AND ("mood disorder" OR depressive OR antidepressant OR depression OR depressed OR hyperthymic OR mania OR manic OR rapid cycl asterisk OR dysthymi asterisk OR dysphori asterisk )., Results: On September 27, 2023, the PubMed search produced 223 articles, CINAHL 62, and the combined PsycLIT/ PsycARTICLES/PsycINFO/Psychology and Behavioral Sciences Collection search 36. Search on ClinicalTrials.gov produced 14 studies, of which none had available data. Eligible were peer-reviewed articles reporting psychiatric/psychological symptoms in patients with IC/BPS, i.e. 63 articles spanning from 2000 to October 2023. These studies identified depression and anxiety problems in the IC/BPS population, along with sleep problems and the tendency to catastrophizing., Conclusion: Psychotherapies targeting catastrophizing and life stress emotional awareness and expression reduced perceived pain in women with IC/BPS. Such concepts should be considered when implementing treatments aimed at reducing IC/BPS-related pain., Competing Interests: Conflict-of-interest statement: All authors declare having no conflicts of interest., (©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.)

Objectives: Fibromyalgia (FM) is characterised by chronic widespread pain, often associated with fatigue, sleep disturbance, cognitive and mood impairment. Pain is a complex and multidimensional experience that significantly impacts personal, social, and professional functioning. Psychological factors related to chronic pain include catastrophising and self-efficacy in managing the painful condition. Therefore, this study explores the influence of chronic pain and related psychological factors on functional outcomes in FM patients., Methods: In this study, 91 Italian patients with FM were assessed using an online questionnaire. The questionnaire included instruments to assess pain, such as the Numerical Rating Scale (NRS) and the Brief Pain Inventory (BPI), psychological characteristics, such as the Pain Self-Efficacy Questionnaire (PSEQ) and the Pain Catastrophizing Scale (PCS), and health-related quality of life with the 12-item Short Form Survey (SF-12). Multiple regression models were run, using the Interference subscale of the BPI and the physical and mental components of the SF-12 as outcomes, and the NRS, PCS and PSEQ scales as predictors., Results: Our analysis revealed that in our model, both PCS and PSEQ were significant predictors of BPI-Interference (PCS: β=0.29; p=0.001; PSEQ: β=-0.36; p<0.001); NRS and PSEQ significantly predicted SF-12-Physical score (NRS: β=-0.32; p=<0.001; PSEQ: β=.50; p<0.001); PCS was found to be the only significant predictor of SF-12-Mental scores (β=-0.53; p<0.001)., Conclusions: Our results suggested that psychological variables such as catastrophic thinking and self-efficacy play a significant role in determining daily functioning and physical and mental health status in FM patients, showing greater influence than pain intensity.

Background: Bipolar disorders (BD) in youths are strongly associated with suicidal ideation. Childhood trauma is a prominent environmental stressor associated with both BD diagnosis and suicide. Primary emotional systems are altered in adult BD and may contribute to suicide risk in youths., Objective: The aim of this study was to investigate primary emotional systems distribution patterns and childhood trauma in youths' BD with and without suicidal ideation (BD-IS, BD-NIS)., Participants and Setting: We assessed 289 participants, 103 youths with DSM-5 BD and 186 healthy controls (HCs)., Methods: Primary emotional systems were obtained with Panksepp's Affective Neuroscience Personality Scale (ANPS), and history of childhood trauma using the Childhood Trauma Questionnaire (CTQ). Suicidal ideation was assessed through the Columbia Suicide Scale for the Rating of Suicide Severity (C-SSRS). The associations with suicidal ideation were tested using two different multivariate models., Results: Over 48 % of participants reported lifetime suicidal ideation and differed on clinical variables from BD-NIS. According to the first model (Wilk's Lambda = 0.72, p < 0.0001), BD-IS scored higher on Panksepp's ANGER and lower on PLAY and CARE than BD-NIS. Both BD-SI and BD-NSI scored higher on ANGER and SEEK and lower on PLAY and CARE than HCs. BD-IS reported more emotional abuse than BD-NIS. They also reported more emotional, sexual, and physical abuse, and emotional neglect than HCs. Only ANGER (OR = 1.13, 95 % CI = 1.01-1.26, Wald = 5.72) and CTQ-Emotional abuse (OR = 1.26, 95 % C.I. = 1.04-1.52, Wald = 5.72) independently predicted suicidal ideation., Conclusions: Findings support the importance of assessing primary emotional systems and childhood trauma, in particular emotional abuse, in youths with BD at risk for suicide., Competing Interests: Declaration of competing interest The authors report there are no competing interests to declare., (Copyright © 2023. Published by Elsevier Ltd.)

There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.5-17 years, were consecutively enrolled in a prospective, multicentric study. Cognitive function was assessed using age-appropriate Weschler Scales. Motor function was concomitantly assessed using disease-specific functional scales. Only 2 individuals (3%) had a intellectual disability of mild degree while the others were within normal range, with no significant difference in relation to SMA type, gender or functional status. While the overall quotients were mostly within normal range, some indexes showed wider variability. A significant positive medium correlation was found between Processing Speed Index and motor functional scores. Working memory had lower scores in type III patients compared to type II. Intellectual disability is uncommon in type II and III SMA. Motor functional abilities may play a role in some of the items contributing to the overall cognitive profile., Competing Interests: Declaration of Competing Interest Coratti G reports personal fees from GENESIS PHARMA, Biologix, BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS outside the submitted work; Pera MC, Pane M, report personal fees from BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS outside the submitted work; Sansone V reports personal fees from BIOGEN S.R.L., ROCHE, AVEXIS, Dyne, Avidity, LUPIN and NOVARTIS outside the submitted work (i.e. participation of advisory board and provides intellectual and teaching activities); R Battini reports personal fees from PTC Therapeutics AADC aware outside the submitted work. Mercuri E is part of advisory board for BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS, Scholar ROCK, EPIRIUM, CYTOKINETICS and NMD PHARMA. All remaining authors have nothing to disclose. Funders had no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication., (Copyright © 2023. Published by Elsevier B.V.)

Background: Different craving typologies (i.e., reward, relief, obsessive) have been identified in alcohol use disorder (AUD) but have been less investigated in specific populations like AUD patients with polysubstance use (PSU). The role of dysfunctional personality traits and reward pathways has been reported in both AUD and PSU. We hypothesized that patients with AUD-PSU might show a prevalent reward craving, alongside specific sociodemographic, clinical, and personality features, and aimed at investigating differences in 423 severe AUD outpatients with and without PSU., Methods: One hundred fifteen patients (27.1% of the sample, 67% males, 42 ± 11.6 years old) displayed PSU. Sociodemographic, clinical features and psychopathological/personality dimensions were assessed through: Craving Typologies Questionnaire (CTQ); Obsessive-Compulsive Drinking Scale (OCDS); UPPS-P Impulsive Behavior Scale (S-UPPS-P); Difficulties in Emotion Regulation Scale (DERS). A binomial logistic regression explored factors associated with PSU., Results: We found higher CTQ 'reward' scores (p < 0.001) in AUD-PSU patients, and a significant association between reward craving and PSU through logistic regression (OR:1.13; p = 0.005). Earlier AUD onset (p < 0.001), greater rates of binge drinking (p = 0.029), more legal problems (p = 0.015), but no significantly higher S-UPPS-S and DERS scores, were detected in AUD-PSU patients., Conclusions: Reward craving was associated with increased risk for PSU in severe AUD patients. Given AUD-PSU participants greater severity and detrimental treatment responses imputed to PSU, identifying prevalent craving types among risk factors for PSU in AUD may help to implement therapeutic strategies. Addressing neurobiological and behavioral mechanisms through combined psychotherapies, pharmacological and neuromodulation treatments could support tailored interventions with better long-term outcome., Competing Interests: Declaration of competing interest None., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Aim: During the last two decades brain related comorbidities of Duchenne have received growing scientific and clinical interest and therefore systematic assessment of cognition, behaviour and learning is important. This study aims to describe the instruments currently being used in five neuromuscular clinics in Europe as well as the diagnoses being made in these clinics., Method: A Delphi based procedure was developed by which a questionnaire was sent to the psychologist in five of the seven participating clinics of the Brain Involvement In Dystrophinopathy (BIND) study. Instruments and diagnoses being used were inventoried for three domains of functioning (cognition, behaviour and academics) and three age groups (3-5 years, 6-18 years and adulthood 18+ years)., Results: Data show wide diversity of tests being used in the five centres at different age groups and different domains. For the intelligence testing there is consensus in using the Wechsler scales, but all other domains such as memory, attention, behavioural problems and reading are tested in very different ways by different instruments in the participating centres., Conclusion: The heterogeneity of tests and diagnoses being used in current clinical practice underlines the importance for developing a Standard Operating Procedure (SOP) to improve both clinical practice and scientific research over different countries and improve comparative work., (© 2023 The Authors. Published by Elsevier Ltd on behalf of European Paediatric Neurology Society. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).)

Delirium (DEL) and depression (DEP) may impair the course and severity of acute respiratory illness. The impact of such syndromes on respiratory and outcome parameters in inpatients with COVID-19 needs clarification. To clarify the relationship between DEL and DEP and respiratory outcome measures, we enrolled 100 inpatients from COVID-19 units of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS of Rome. Participants were divided into those with DEL, DEP, or absence of either delirium or depression (CONT). Delirium severity was assessed with the Neelson and Champagne Confusion Scale (NEECHAM). Psychopathology was assessed with the Hamilton Rating Scale for Depression (HAM-D), the Hamilton Rating Scale for Anxiety (HAM-A), and the Brief Psychiatric Rating Scale (BPRS). Dependent variables include: (a) respiratory parameters, i.e., partial pressure of oxygen in arterial blood (PaO 2 ), oxygen saturation (SpO 2 ), ratio between arterial partial pressure of oxygen (PaO 2 ), and fraction of inspired oxygen (PaO 2 /FiO 2 ); (b) outcome parameters, i.e., duration of hospitalization and number of pharmacological treatments used during the hospitalization. We investigated between-group differences and the relationships between severity of delirium/depression and the dependent variables. Duration of hospitalization was longer for DEL than for either DEP or CONT and for DEP compared to CONT. NEECHAM and HAM-D scores predicted lower PaO 2 and PaO 2 /FiO 2 levels in the DEL and DEP groups, respectively. In DEP, BPRS scores positively correlated with duration of hospitalization. Delirium impacted the course of COVID-19 more severely than depression. The mechanisms by which delirium and depression worsen respiratory parameters differ.

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.

Background: Lithium is the standard treatment for bipolar disorders (BD) in adults. There is a dearth of data on its use in the pediatric age. This review aimed to investigate the use of lithium in pediatric bipolar disorder (BD) and other externalizing childhood-related disorders., Methods: We applied the Preferred Reporting Items for Systematic Reviews and Meta-analyses criteria (PRISMA) to identify randomized controlled trials evaluating the use of lithium in pediatric (BD), conduct disorder (CD), attention deficit hyperactivity disorder, oppositional defiant disorder, and disruptive mood dysregulation disorder. The primary outcome of our study was to evaluate the efficacy of lithium compared to a placebo or other pharmacological agents. The secondary outcomes were acceptability and tolerability., Results: Twelve studies were eligible, 8 on BD and 4 on CD. Overall, 857 patients were treated with lithium. No studies for externalizing disorder diagnoses were identified. Regarding BD patients (n = 673), efficacy results suggested that lithium was superior to placebo in manic/mixed episodes but inferior to antipsychotics. Lithium efficacy ranged from 32% to 82.4%. Results on maintenance need to be expanded. Comorbidity rates with other externalizing disorders were extremely high, up to 98.6%. Results in CD patients (n= 184) suggested the efficacy of lithium, especially for aggressive behaviors. No severe adverse events directly related to lithium were reported in BD and CD; common side effects were similar to adults., Conclusion: This systematic review supports the use of lithium in BD and CD as an efficacious and generally well-tolerated treatment in the pediatric age. However, evidence is limited due to the paucity of available data., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

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 P referred R eporting I tems for S ystematic Reviews and M eta- A nalyses ( 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., Competing Interests: The authors declare no conflict of interest.

Background: 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., Aim: To compare pregnant women for anxiety, prenatal depression, psychopathology, and social support before and after the awareness of the pandemic., Methods: We administered to women willing to participate in their 2 nd -3 rd trimesters of pregnancy the Edinburgh Postnatal Depression Scale (EPDS), the State-Trait Anxiety Inventory Form Y (STAI-Y), and the Symptom CheckList-90-Revised (SCL-90R); we further collected sociodemographic variables and explored women's social support. The comparison was cross-sectional. The first sample was termed nonCOVID-19 because data were gathered before the COVID-19 outbreak (January 2020-February 2020) was declared, and the second sample termed COVID-19 because participants were already subjected to the COVID-19-related restrictive measures (January 2021-February 2021). Since normal distribution was not met (Shapiro-Wilk test applied), we applied nonparametric Mann-Whitney's U -test to compare psychometric tests. Ethical standards were met., Results: The nonCOVID-19 group reported higher support from partners only, while the COVID-19 group reported multiple support ( χ 2 = 9.7181; P = 0.021); the nonCOVID-19 group scored higher than the COVID-19 group only on state anxiety among psychometric scales [STAI-Y1, nonCOVID-19 median = 39 (95%CI: 39.19-51.10) vs COVID-19 median= 32 (95%CI: 30.83-38.90); Mann-Whitney's U =117.5, P = 0.00596]. Other measures did not differ meaningfully between the two groups. Scores on the EPDS, the state and trait subscales of the STAI-Y, and most SCL-90R subscales inter-correlated with one another. The anxiety component of the EPDS, EPDS-3A, correlated poorly with other measures, while it was the Global Symptom Index of the SCL-90-R that correlated most strongly with most measures. Our results are at odds with most literature and do not confirm increased depression and anxiety rates in pregnant women during the pandemic., Conclusion: 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., Competing Interests: Conflict-of-interest statement: No author has any conflicts of interest., (©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.)

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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lucibello, Bertè, Verdolotti, Lucignani, Napolitano, D’Abronzo, Cicala, Pede, Chieffo, Mariotti, Colosimo, Mercuri and Battini.)

Background: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children., Methods: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three)., Results: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery.", Conclusions: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population., (© 2021. The Author(s).)

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., (© 2021 S. Karger AG, Basel.)

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.

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  < 0.001) and neglect ( F  = 10.98, df  = 1, p  = 0.001). After modelling the effect of emotional dysregulation, the impact of childhood trauma on coronavirus disease 2019-related psychological distress resulted in indirect effects and mediated by deficits in emotion regulation mechanisms (bootstrapped lower level of confidence interval = 0.345, upper level of confidence interval = 0.598)., 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.

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., Competing Interests: Conflict-of-interest statement: Authors declare no conflict of interest., (©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.)

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.

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., Competing Interests: Conflict-of-interest statement: Authors declare no conflict of interest., (©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.)

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.

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., (Copyright © 2021 Elsevier B.V. All rights reserved.)

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., (Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Objective: The effects of COVID-19 seem to extend beyond the physical pain and is showing psychiatric implications as well. Moreover, psychopathological implications seem to last also after patients' discharge. Our goal is to investigate the psychological impact and psychopathological outcome of patients affected by COVID-19., Patients and Methods: We have engaged 34 patients with COVID-19 conditions [eight of them were healthcare workers patients (HCW)] hospitalized at "Policlinico Gemelli Foundation" of Rome, Italy. All patients were evaluated through the Impact of Event Scale-Revised (IES-R) and the Symptom Checklist 90-R (SCL-90-R) first, during their hospitalization (baseline), and then, after 4 months from hospital discharge (follow-up), through phone interviews., Results: At baseline, 82% of patients revealed from mild to severe psychological impact of COVID-19, according to the IES-R. At follow-up, the mean IES-R total score was significantly decreased (p<0.001) even if almost half (46.6%) of our cohort still showed it. HCW patients showed a significantly higher score than other patients at IES-R scale, both at baseline (p=0.005) and at follow-up (p<0.001). Moreover, at 4 months from discharge, they showed a significantly higher percentage of moderate and severe distress (p=0.015). In addition to this, at follow-up, our cohort of patients showed an increase of anxiety symptoms, even if not significant compared to baseline (46.7% vs. 35.3% respectively; p=1.000), and HCW patients suffered more sleep disorders (p=0.019) and anxiety symptoms (p=0.019) compared to other patients., Conclusions: We indicate the importance of assessing psychopathology of COVID-19 survivors, monitoring their changes over time, and providing psychological support to improve their psychological well-being.

Background: 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., Methods: 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., Results: 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 < 0.001; r =0.187, p 0.05). Though a significant recovery was documented after surgery, a persistence of eye coordination deficits was present at 6 months in 1 out of 3 children with abnormal preoperative exams. A significant correlation was found between pathological CT findings and persistence of below average neuro-ophthalmological and neurocognitive findings 6 months after surgery, as well as between CT findings and neurocognitive scores at the 1 year follow-up (r = 0.411; p < 0.01)., Conclusion: The presence of neuroradiological abnormalities appears to be related to both ophthalmological and neurocognitive deficits at diagnosis. This relationship is maintained in spite of the surgical treatment in children who show the persistence of ophthalmological and neurocognitive deficits during the follow-up.

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., (Copyright © 2020 Elsevier Inc. All rights reserved.)

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 (<3/10) in 4/18. NBS diagnosed patients had higher general and subquotients neurodevelopmental scores, normal brain MRI, and no epilepsy. The others showed a progressive reduction of the developmental quotient with age and language impairment, which was evident after 24 months of age. Our findings showed a progressive neurodevelopmental deterioration and a specific fall in language development after 24 months in cblC defect. The presence of brain lesions and epilepsy was associated with a worst neurodevelopmental outcome. NBS, avoiding major disease-related events and allowing an earlier treatment initiation, appeared to have a protective effect on the development of brain lesions and to promote a more favorable neurodevelopment., (© 2019 SSIEM.)

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., (Wiley Periodicals, Inc. © 2019 International League Against Epilepsy.)

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., Methods: Forty-two children (25 female and 17 male; mean age 6.7 years), operated on with bony decompression alone, were retrospectively reviewed. All patients underwent suboccipital craniectomy. Thirty-eight children required C1 laminectomy, and 21 also underwent dural delamination on the basis of intraoperative ultrasound investigations. The outcome was assessed using the traditional measurement and the Chicago Chiari Outcome Scale (CCOS). The mean follow-up period was 11.3 years (range 5-15 years)., Results: Headache was the most frequent preoperative symptom (81%), followed by neck pain (40%), vertigo (40%), ataxia (26%), and upper and lower extremity paraesthesia (26%). Syringomyelia was present in 19 patients (45%). Resolution and significant improvement of preoperative clinical symptoms were observed in 36.5% and 21.5% of cases, respectively. Three children required adjunctive surgery for symptom recurrence (7%). The tonsil position and syringomyelia were normalized or improved in 50% and 79% of cases, respectively. No complications occurred. According to the CCOS scores, 69.5% of children had an excellent outcome, 28.5% had a functional outcome and 2% had an impaired outcome., Conclusion: Bony decompression alone is an effective, safe and long-lasting treatment for children with CM-I. A certain risk of symptom recurrence requiring new surgery exists, but it is widely counterbalanced by the low risk of complications. Careful patient selection is crucial for a good outcome. Prospective and randomized studies are needed for further validation.

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., (© 2018 Wiley Periodicals, Inc.)

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., (Copyright © 2017 Elsevier B.V. All rights reserved.)

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.

Objective: 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., Methods: 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., Results: 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., Conclusions: 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.

Aim: To investigate behavior and cognitive performances of teenage patients with Dravet syndrome (DS)., Methods: We enrolled 20 teenage patients (12 females and 8 males) with DS, followed in the Child Neurology Unit of the Catholic University (Rome). Patients underwent a full clinical examination including behavioral and cognitive assessments (respectively, CBCL and Wechsler scales)., Results: All patients showed behavior disorders and mental retardation, mild in six cases, moderate in seven and severe in the remaining seven. Among mildly retarded patients visual function, particularly visuo-motor abilities resulted mostly impaired in Wechsler subtests, whereas verbal skills were relatively preserved. In contrast, a general cognitive impairment was observed in moderately and severely retarded patients., Conclusions: Our teenage patients with DS compared with other series at different ages (young childhood, adulthood) suggest a progressivity of neurological and neuropsychological signs. A visuomotor default and a relative preservation of verbal skills, like what has been found in previous reports of younger patients, are still evident in mildly impaired cases. Therefore, the progression over time of these cases toward a generalized impairment may be suggested, but only longitudinal studies can confirm it. There was a possible responsibility of some epileptic disorders in worsening the neuropsychological outcome (early myoclonic seizures and atypical absences, as well as persistent EEG background slowness in the last 3years)., (Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

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., (Copyright © 2015 Elsevier B.V. All rights reserved.)

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., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Introduction: 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., Methods: 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., Results and Conclusions: 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.

Objective: Neurodevelopmental 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., Methods: We 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)., Results: The 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 = <0.0001. When we subdivided the cohort according to site of mutations, there was a difference between boys with mutations upstream exon 44 and those with mutations in exon 44-45 affecting Dp140 on both Developmental and Intelligence Quotient (p 0.01 and p 0,003 respectively)., Conclusions: Our 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.

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., (Copyright © 2014 Elsevier B.V. All rights reserved.)

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., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Objective: Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside., Methods: Comparison of our three unusual 4p16.3 deletions with 13 literature reports. Array-comparative genomic hybridization (a-CGH). Real-time polymerase chain reaction (RT-PCR) on messanger RNA (mRNA) of LETM1 and CPLX1. Direct sequencing of LETM1., Results: Three unusual 4p16.3 deletions were detected by array-CGH in absence of a obvious clinical diagnosis of WHS. Two of these, encompassing LETM1, were found in subjects who never had seizures. The deletions were interstitial, spanning 1.1 Mb with preservation of the terminal 1.77 Mb region in one case and 0.84 Mb with preservation of the terminal 1.07 Mb region in the other. The other deletion was terminal, affecting a 0.564 Mb segment, with preservation of LETM1, and it was associated with seizures and learning difficulties. Upon evaluating our patients along with literature reports, we noted that six of eight subjects with terminal 4p deletions preserving LETM1 had seizures, whereas seven of seven with interstitial deletions including LETM1 and preserving the terminal 1 Mb region on 4p did not. An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1., Significance: We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here., (Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.)

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.

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., (Copyright © 2013 Elsevier B.V. All rights reserved.)

The aim of this study was to provide information on the neuropsychological evolution of children with symptomatic epilepsy who have undergone surgical resection of posterior (occipitoparietal) lesions. Twelve children with epilepsy with parietal and/or occipital lesions were enrolled in the study and followed after surgical resection: full clinical and epileptic examinations were performed before and after surgery, as was a neuropsychological study of both general and specific cognitive abilities. Epilepsy evolution was generally good (Engel classification IA in nine cases) with persistent selective neurological impairments (eye field defects, sensory unilateral spatial neglect) in some cases, consistent with the lesion site. Neuropsychological defects before surgery in the absence of refractory epilepsy were minimal with a normal global cognitive competence; yet, the relatively low performance scores with some impairment of specific cognitive skills were strictly correlated with defects in visual perceptive skills in both right- and left-sided lesions. Surgery seems to have improved performance abilities, whereas other abnormal specific skills did not change with the exception of working memory that in some cases was defective before surgery and normalized after lesion removal. Our study in this particular cohort of children with epileptogenic occipitoparietal lesions thus confirmed a trend toward a benign epileptic and neurodevelopmental outcome after surgical resection of the lesion., (Copyright © 2011 Elsevier Inc. All rights reserved.)