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There is limited research in adolescents at risk for psychosis. The new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition attenuated psychosis syndrome (DSM-5 APS) criteria have not been validated in this group. We conducted a RECORD-compliant, real-world, prospective, 5-year cohort study addressing clinical profile, transition to psychosis, and prognostic accuracy of DSM-5 APS in help-seeking inpatient/outpatient adolescents accessing Children and Adolescent Neuropsychiatric services at IRCCS Mondino Foundation (Pavia, Lombardy, Italy) between 2012 and 2019. About 243 adolescents (31 early-onset psychosis [EOP]; 110 meeting DSM-5 APS criteria, DSM-5 APS; 102 not meeting psychotic or DSM-5 APS criteria, non-APS) were included. At baseline, DSM-5 APS adolescents (aged 15.4 ± 1.6) had on average 2.3 comorbid disorders (higher than EOP/non-APS, P < .001). DSM-5 APS adolescents had an intermediate psychopathological profile between non-APS/EOP (P < .001) and worsen Clinical Global Impression-Severity than non-APS (P < .001). DSM-5 APS functioning was intermediate between non-APS and EOP. 39.1% of DSM-5 APS were treated with psychotropic drugs (average = 64 days); 53.6% received psychotherapy. Follow-up of DSM-5 APS and non-APS groups lasted 33 and 26 months, respectively (median). The cumulative risk of transition at 1–5 years was 13%, 17%, 24.2%, 26.8%, and 26.8% in the DSM-5 APS group, 0%, 0%, 3.2%, 3.2%, and 3.2% in the non-APS group. The 5-year prognostic accuracy of the DSM-5 APS in adolescent was adequate (area under the curve = 0.77; Harrell’s C = 0.736, 95%CI 0.697–0.775), with high sensitivity (91.3%) and suboptimal specificity (63.2%). The DSM-5 APS diagnosis can be used to detect help-seeking adolescents at risk of psychosis and predict their long-term outcomes. Future research should consolidate these findings.

Introduction/Aims Coronavirus disease 2019 (COVID‐19), a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection, has become a global pandemic. Patients with myasthenia gravis (MG), often treated with immunosuppressants, might be at higher risk of developing COVID‐19 and of demonstrating a severe disease course. We aimed to study prevalence and describe features of COVID‐19 in MG patients. Methods In May 2020, we conducted telephonic interviews with MG patients followed at our referral center. We collected structured data regarding MG and COVID‐19, which was diagnosed as probable or confirmed according to the European Centre for Disease Prevention and Control case definition. We compared confirmed‐COVID‐19 prevalence calculated from the beginning of the pandemic in MG patients with that of the overall Pavia district. Results We interviewed 162 MG patients (median age, 66 y; interquartile range 41‐77; males 59.9%), 88 from the Pavia district. Three patients had SARS‐CoV‐2‐confirmed by polymerase chain reaction and eight had probable‐COVID‐19. In the Pavia district, the prevalence of confirmed‐COVID‐19 among MG patients (1/88, 1.14%) and overall population (4777/546 515, 0.87%) did not differ (P = .538). Higher Myasthenia Gravis Foundation of America clinicalclass and the need for recent rescue treatment, but not ongoing immunosuppressive treatments, were associated with COVID‐19 risk. Of 11 MG patients with probable/confirmed‐COVID‐19, 3 required ventilator support, and 2 elderly patients died of COVID‐19 respiratory insufficiency. Only 1 of11 patients experienced worsening MG symptoms, which improved after increasing their steroid dose. Discussion The risk of COVID‐19 in MG patients seems to be no higher than that of the general population, regardless of immunosuppressive therapies. In our cohort, COVID‐19 barely affected MG course.

Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epilepsy associated with neurodevelopmental disorders. Methods: We conducted a retrospective, observational study on 72 probands. All patients underwent a first diagnostic level of a 135 gene panel, a second of 297 genes for inconclusive cases, and finally, a whole-exome sequencing for negative cases. Diagnostic yields at each step and cost-effectiveness were the objects of statistical analysis. Results: Overall diagnostic yield in our cohort was 37.5%: 29% of diagnoses derived from the first step analysis, 5.5% from the second step, and 3% from the third. A significant difference emerged between the three diagnostic steps (p &lt, 0.01), between the first and second (p = 0.001), and the first and third (p &lt, &lt, 0.001). The cost-effectiveness plane indicated that our exome-based “dynamic” approach was better in terms of cost savings and higher diagnostic rate. Conclusions: Our findings suggested that “dynamic” NGS techniques applied to well-phenotyped individuals can save both time and resources. In patients with unexplained epilepsy comorbid with NDDs, our approach might maximize the number of diagnoses achieved.

Background: Behavioral and psychological symptoms of dementia (BPSD) are a distressful condition. We aimed to investigate the BPSD distribution in subjects with cognitive impairment, and the potential correlations between BPSD and neurodegeneration in terms of cerebrospinal fluid (CSF) tau and brain atrophy.Methods: One-hundred patients with mild cognitive impairment (MCI) or dementia (Alzheimer’s disease, AD; Lewy-body disease, LBD; frontotemporal dementia, FTD; vascular dementia, VD) underwent a complete diagnostic workup, including 3T-MRI and/or CT and CSF. Cortical atrophy was assessed with medial temporal atrophy (MTA), posterior atrophy (PA), and global cortical atrophy-frontal lobe (GCA-F) scales. BPSD were rated using the Neuropsychiatric Inventory (NPI), and BPSD clusters were defined according to the European Alzheimer Disease Consortium.Results: Delusions, hallucinations, and psychosis cluster were differently distributed among the diagnostic groups (p < 0.05, p < 0.001, and p < 0.05), with LBD patients showing higher scores for hallucinations (vs. MCI, p < 0.001, and AD, p < 0.05) and psychosis cluster (vs. MCI, p < 0.05). In primary dementias, we found a negative correlation between NPI total score and tau levels (p = 0.08), confirmed by beta regression (p < 0.01), while a positive non-significant relationship was observed in MCI. Higher GCA-F scores were associated with delusions and apathy (p < 0.05, on both hemispheres) and hallucinations (left: p < 0.01, right: p < 0.05). GCA-F scores were positively correlated with psychosis cluster (right: p < 0.05), and agitation/aggression (left: p < 0.05). Conversely, nighttime disturbances were positively correlated with both GCA-F and MTA scores (left: p < 0.01; right: p < 0.05).Conclusion: Our results suggest that psychotic symptoms are significantly more represented in LBD patients and that CSF tau and frontal atrophy are associated with the occurrence and severity of BPSD in clinical practice. Longitudinal studies are however required to ascertain their actual predictive value.

Objective The objective of this study was to evaluate care needs, emotional and behavioral changes, and parental stress indices in a cohort of pediatric patients with epilepsy with neurocognitive and emotional comorbidities at the time of the coronavirus disease 2019 (COVID-19) pandemic. Methods This is a prospective observational study involving pediatric patients with epilepsy with neurocognitive and emotional comorbidities. Included patients were admitted to our hospital between August 2019 and February 2020 for epilepsy and neuropsychiatric assessment, and Child Behavior Checklist (CBCL) questionnaires were filled in by parents. Those patients and their families accepted to participate in a phone follow-up visit in April–May 2020 and to refill CBCL and Parenting Stress Index–Short Form (PSI-SF) questionnaires. Descriptive statistics for demographic and clinical data, CBCL questionnaire scores before and during the COVID-19 pandemic, and PSI-SF scores have been computed. Moreover, results of a short phone survey on the psychological burden during COVID lockdown have been reported. Results This study provides the parental-proxy report of emotional and behavioral profile changes of 23 pediatric patients with epilepsy and neurocognitive and emotional comorbidities during the COVID-19 pandemic. Concerns for therapy monitoring at the time of lockdown emerged in 43% of families, and 30% of patients showed worries for an altered contact with the referring medical team. Patients with neurocognitive comorbidities were more likely to exhibit behavioral problems, especially externalizing problems compared with patients with a diagnosis of anxiety/depression. Conclusion Our data suggest the importance to monitor disease trajectory and behavior and affective symptoms with telehealth strategies to provide effective care to patients and their families., Highlights • COVID-19 pandemic changed the usual healthcare assistance in patients with epilepsy and neuropsychiatric comorbidities • The psychological burden related to the disease might worsen patients and their families' functional profile • Affective symptoms and behavior should be investigated during and after the COVID-19 pandemic in at-risk patients • Special attention should be payed to patients’ families to modulate a suitable emergency teleassistance and support strategy

The Parental Stressor Scale: Neonatal Intensive Care Unit (PSS:NICU) is a well-validated tool to assess different sources of stress in parents during the NICU hospitalization of their infant. The present meta-analytic study assessed the relative impact of different NICU-related sources of parental stress in a pool of studies conducted in a wide set of different countries. Also, differences in stress levels by parent gender and country, as well as the impact of infants’ neonatal characteristics and clinical conditions were explored. Records were searched on PubMed, Scopus, and Web of Science (January 1993–December 2019). A purposive open search string was adopted: [“PSS:NICU”] OR [“PSS-NICU”] OR [“Parental Stressor Scale”]. A multiple random-effect meta-analysis was conducted on data from 53 studies extracted by independent coders. Parental role alteration emerged as the greatest source of stress for both mothers and fathers. Mothers reported higher stress levels compared to fathers. A significant difference emerged only for the subscale related to sights and sounds physical stimuli. No significant effects of infants’ neonatal characteristics (gestational age, birth weight) and clinical conditions (comorbidities) emerged. A marginal positive effect of NICU length of stay emerged on the global level of parents’ stress. The current meta-analysis underlines that parental stress related to NICU admission is a worldwide healthcare issue. Immediate and tailored support to parents after the birth of their at-risk infant should be prioritized to reduce parental stress and to promote mothers and fathers’ emotional well-being and new-born neurodevelopmental outcomes.

Purpose Quantitative MRI (qMRI) plays a crucial role for assessing disease progression and treatment response in neuromuscular disorders, but the required MRI sequences are not routinely available in every center. The aim of this study was to predict qMRI values of water T2 (wT2) and fat fraction (FF) from conventional MRI, using texture analysis and machine learning. Method Fourteen patients affected by Facioscapulohumeral muscular dystrophy were imaged at both thighs using conventional and quantitative MR sequences. Muscle FF and wT2 were calculated for each muscle of the thighs. Forty-seven texture features were extracted for each muscle on the images obtained with conventional MRI. Multiple machine learning regressors were trained to predict qMRI values from the texture analysis dataset. Results Eight machine learning methods (linear, ridge and lasso regression, tree, random forest (RF), generalized additive model (GAM), k-nearest-neighbor (kNN) and support vector machine (SVM) provided mean absolute errors ranging from 0.110 to 0.133 for FF and 0.068 to 0.115 for wT2. The most accurate methods were RF, SVM and kNN to predict FF, and tree, RF and kNN to predict wT2. Conclusion This study demonstrates that it is possible to estimate with good accuracy qMRI parameters starting from texture analysis of conventional MRI.

Background: the study of paraspinal muscles is pivotal for the diagnosis and staging of Amyotrophic Lateral Sclerosis (ALS), and is usually performed by electromyography. Objective: to evaluate the role of paraspinal muscle MRI as a diagnostic biomarker in ALS. Methods: we evaluated T1-w images of newly diagnosed ALS patients (n = 14), age-matched healthy controls (n = 11), patients affected by inflammatory myopathy (n = 10), and lumbar radiculopathy (n = 19), and compared them semiquantitatively by using the Mercuri Scale. Results: a significant difference in the appearance of the psoas muscle was observed between ALS patients and patients with radiculopathy (p = 0.003), after stratifying ALS patients into spinal and bulbar onsets, we found a significant difference in the appearance of the longissimus dorsi muscle between the spinal onset ALS subgroup and bulbar onset ALS subgroup (p = 0.0245), while no difference was found for multifidus (p = 0.1441), iliocostal (p = 0.0655), and psoas muscles (p = 0.0813) between the cohort subgroups. Conclusions: paraspinal T1-w MRI could help to distinguish spinal ALS patients from healthy and pathological controls. Specifically, the study of longissimus dorsi could play the role of a diagnostic ALS biomarker.

Although specific neuropsychological deficits have been recognized during the active phase of epilepsy with centrotemporal spikes (ECTS), the natural cognitive and neuropsychological history after remission has not been elucidated so far. We evaluated the natural cognitive and neuropsychological outcomes five years after disease remission and investigated possible predictors of long-term outcome among socio-demographic and electro-clinical variables. We performed an observational cross-sectional study. Electro-clinical characteristics during the active phase of epilepsy, as well as antiepileptic treatment and premorbid neurodevelopmental concerns were reviewed for 70 patients. At least five years after epilepsy remission, all patients were contacted, and 46 completed a structured questionnaire about patients&rsquo, current education and academic skills, general health, and parents&rsquo, socio-economic status. Among them, 23 patients underwent an ad hoc cognitive and neuropsychological protocol and emotional-behavioral assessment. Chi-square tests and t-tests were carried out to define the role of putative predictors of neuropsychological outcomes. Mean cognitive and neuropsychological performances appeared to be overall adequate, except for the dictation. Positive family history for epilepsy (p = 0.01769) and familial socioeconomic status (mother&rsquo, s schooling (p = 0.04169), father&rsquo, s schooling (p = 0.01939), mother&rsquo, s income (p = 0.0262), father&rsquo, s income (p = 0.01331)) were identified as predictors of outcomes. Our data suggest that ECTS with typical electro-clinical features depicts an overall preserved cognitive and neuropsychological long-term outcome. We suggest particular attention should be paid to patients with socio-economic disadvantage and familial history of epilepsy, as they may experience worse neurocognitive post-morbid performances.

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate health related quality of life in a well characterized cohort of patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients&rsquo, and parents&rsquo, quality of life perception. Methods: This is a double center exploratory research study. A postal survey with auto-administrable questionnaires was conducted among 17 subjects (aged 3&ndash, 22 years) with diagnosis of GLUT1DS, receiving a stable KD treatment for more than 1 year. The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales was adopted. Clinical variables analyzed in relation to quality of life were frequency of epileptic seizures and movement disorder since KD introduction, presence of intellectual disability (ID), and KD ratio. Results: Quality of life global scores were impaired both in parents&rsquo, and children&rsquo, s perspectives, with a significant concordance. Taking into consideration subscales, the average was 64.17 (range 10&ndash, 100) for physical functioning, 74.23 (range 30&ndash, 100) for emotional functioning, 62.64 (range 10&ndash, 100) for social functioning, and 56 (range 15&ndash, 92) for school functioning. Conclusions: In patients with GLUT1DS the quality of life perception is comparable to that of other patients with chronic disease. In our sample, the presence of movement disorder seems to be a crucial element in quality of life perception.