Neurological complications of rotavirus infection in pediatric patients: a retrospective cohort study.

Quand penser à l’existence d’un trouble spécifique du développement et des apprentissages associé au TDAH de l’enfant ?

One of the least studied areas in orthopaedics is total joint arthroplasty (TJA) in pediatric patients. Recent studies have confirmed that these procedures are being performed on pediatric patients, making it critical to understand the rates of surgical complications in this patient population. We sought to examine the frequency in which surgical complications occur in pediatric patients, aged 20 and younger, undergoing TJA compared with adults. Data from the 2003 to 2012 Kids' Inpatient Database (ages 20 and younger) and 2002 to 2013 National Inpatient Sample (ages 21 and over) were analyzed. Pediatric patients were matched to 3 adult controls (1 per age group: 21 to 50, 51 to 65, and over 65 y) using patient characteristics including sex, race, orthopaedic diagnosis, and preoperative loss of function. Comparisons were then made between the rates and relative risks (RRs) of surgical complications between pediatric and adult patients. Finally, we examined patient factors associated with surgical complications, utilizing modified Poisson regression models with robust SEs. Three adult controls (ie, 1 control from each age group) were identified for 1385 pediatric patients, for a total sample of 5540 TJA patients. Approximately 10% of pediatric patients experienced either major or minor surgical complications. The overall rate of major complications in pediatric patients was 5.05%, compared with 4.79% in adult controls [RR: 1.06 (0.81 to 1.38), P=0.69]. The overall rate of minor complications in pediatric patients was 5.78%, compared with 5.68% in adult controls [RR: 1.02 (0.80 to 1.30), P=0.78]. When adjusted for patient demographics, the RR of major complications was 49% higher in pediatric patients compared with ages 21 to 50 [RR: 1.49 (1.03 to 2.16), P=0.03] with no statistically significant differences noted for other age groups. For minor complications, the adjusted RR in pediatric patients, compared with any other age group, did not approach statistical significance. Pediatric patients undergoing TJA experience major and minor surgical complications at rates comparable with their adult counterparts. Our findings offer important insight on the rates of surgical complications in pediatric TJA patients, which is valuable for preoperative education and consultation with patients and families. Level III-therapeutic.

Exceptional learners is the term used in the United States to refer to students with disabilities (as well as those who are gifted and talented). The majority of students with disabilities have cognitive and/or behavioral disabilities, that is, specific learning disability (SLD), intellectual disability (ID), emotional disturbance, (ED), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD). The remaining have primarily sensory and/or physical disabilities (e.g., blindness, deafness, traumatic brain injury, cerebral palsy, muscular dystrophy). Many of the key research and policy issues pertaining to exceptional learners involve their definitions and identification. For example, prior to SLD being formally recognized by the U.S. Department of Education in the 1970s, its prevalence was estimated at approximately 2% to 3% of the school-age population. However, the prevalence of students identified for special education as SLD grew rapidly until by 1999 it reached 5.68% for ages 6 to 17 years. Since then, the numbers identified as SLD has declined slowly but steadily. One probable explanation for the decrease is that response to intervention has largely replaced IQ-achievement as the method of choice for identifying SLD. The term intellectual disability has largely replaced the classification of mental retardation. This change originated in the early 2000s because of the unfortunate growing popularity of using retard as a pejorative. Although ID used to be determined by a low IQ-test score, one must also have low adaptive behavior (such as daily living skills) to be diagnosed as ID. That is the likely reason why the prevalence of students with ID at under 1% is well below the estimated prevalence of 2.27% based solely on IQ scores two standard deviations (i.e., 70) below the norm of 100. There are two behavioral dimensions of ED: externalizing (including conduct disorder) and internalizing (anxiety and withdrawal) behaviors. Research evidence indicates that students with ED are underserved in public schools. Researchers have now confirmed ADHD as a bona fide neurologically based disability. The American Psychiatric Association recognizes three types of ADHD: (a) ADHD, Predominantly Inattentive Type; (b) ADHD, Predominantly Hyperactive-Impulsive Type; and (c) ADHD, Combined Type. The American Psychiatric Association recognizes two types of ASD: social communication impairment and repetitive/restricted behaviors. The prevalence of ASD diagnosis has increased dramatically. Researchers point to three probable reasons for this increase: a greater awareness of ASD by the public and professionals; a more liberal set of criteria for diagnosing ASD, especially as it pertains to those who are higher functioning; and “diagnostic substitution”—persons being identified as having ASD who previously would have been diagnosed as mentally retarded or intellectually disabled. Instruction for exceptional children, referred to as “special education,” differs from what most (typical or average) children require. Research indicates that effective instruction for students with disabilities is individualized, explicit, systematic, and intensive. It differs with respect to size of group taught and amount of corrective feedback and reinforcement used. Also, from the student’s viewpoint, it is more predictable. In addition, each of these elements is on a continuum.

Central venous access device (CVAD) infections are a major complication in pediatric patients receiving long-term parenteral nutrition (PN) and are particularly prevalent in patients with intestinal failure. This study evaluated the outcomes of outpatient ethanol-lock therapy (ELT) for the prevention of CVAD infections in children with intestinal failure. In this retrospective analysis, the primary outcome measure was the rate of bloodstream infection (BSI) due to CVAD infections per 1,000 catheter days, and secondary measures included type of organisms cultured and complications of ELT. Over the course of 2 years, 15 patients received outpatient ELT. Sixty-seven percent were male; patients had a mean ± standard deviation age at enrollment of 5.6 ± 6.9 years and body weight of 19.9 ± 15.4 kg. Mean duration of ELT was 263 ± 190 days. Mean BSI rate per 1,000 catheter days significantly decreased from 8.0 before ELT to 1.3 after ELT (P < .01). Seventy-three percent of patients remained infection free throughout the entire study period. Adverse events potentially related to ELT included thrombosis (n = 1), difficulty withdrawing blood from the CVAD, requiring thrombolytic administration (n = 3), and repair of the CVAD for leakage/tear (n = 20). The rate of CVAD repair for leakage/tear with ELT was compared to prior rates per 1,000 catheter days and was found to be elevated after initiation of ELT (6.4 ± 10.0 vs 3.1 ± 5.2; P = .20). No signs and symptoms of ethanol intoxication were observed. ELT for the prevention of CVAD infections in pediatric intestinal failure patients significantly decreased BSI rates and may be used for extended periods of time in an outpatient setting.

Prospective studies indicate that the exposure to organochlorine pesticides (OCPs) during fetal life, infancy, and early childhood may be associated with features of neurodevelopmental disorders in children. However, few studies have investigated the concentrations of serum OCPs in children with categorically diagnosed neurodevelopmental disorders. The aim of this study was to assess the concentrations and detection rates of dichlorodiphenyltrichloroethane (DDT) metabolites, hexachlorocyclohexane (HCH) isomers, cyclodienes, and methoxychlor in serum samples of children with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and specific learning disorder (SLD), all of normal intelligence, compared to typically developing controls (TD). In total, 114 schoolchildren, aged 6-13years old, were assessed and distributed into four groups: ASD (n = 39), ADHD (n = 21), SLD (n = 32), and TD (n = 18). Each clinical group was compared to the TD group. Concentrations of serum OCPs were determined by gas chromatography and are presented as ng/g lipid. Concentrations of β-HCH, the sum of HCH isomers, and o,p'-DDD were significantly higher in ASD children: ASD vs. TD (mean ± SD): 10.5 ± 7.7 vs. 6.1 ± 4.0, (p = 0.049); 12.0 ± 10.3 vs. 6.6 ± 4.0, (p = 0.025); 7.4 ± 6.5 vs. 2.8 ± 2.3, (p = 0.0019), respectively. The detection rates of p,p'-DDT, at least one substance from DDTs detected, and the cyclodiene heptachlor epoxide, were significantly lower in the ASD group: ASD vs. TD: 12.8% vs. 38.9%, (p = 0.037); 69.2% vs. 94.4%, (p = 0.044); 10.3% vs. 38.9%, (p = 0.026), respectively. No significant differences between the ADHD or SLD groups and the TD group were observed. We demonstrated higher serum concentrations and lower detection rates of selected OCPs in ASD than TD children. Our results add to potential neurodevelopmental concerns surrounding OCPs and provide evidence of specificity in the relations between HCHs and ASD.

This mini-review examines the available papers about virtual reality (VR) as a tool for the diagnosis or therapy of neurodevelopmental disorders, focusing on Attention Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Specific Learning Disorders (SLD). Through a search on literature, we selected 62 studies published between 1998 and 2024. After exclusion criteria, our synoptic table includes 32 studies on ADHD (17 were on diagnostic evaluation and 15 were on therapeutic interventions), 2 on pure ASD, and 2 on pure SLD. These cover a total of 8,139 participants with ADHD (ages 3–19), 458 with ASD (ages 4–19), and 162 with SLD (ages 7–11). Results show that VR offers high ecological validity and enables improvements in cognitive and social skills. Specifically, in individuals with ADHD, VR showed benefits in attention and executive function, with optimal results when combined with pharmacological treatments. For ASD kids, VR proved effective in enhancing social skills and emotional regulation through personalized virtual scenarios. However, the literature on SLD remains limited, suggesting an evolving area of research. Despite limitations related to small sample sizes and technology costs, VR presents a promising outlook for clinical intervention in neuro-developmental disorders, supporting enhanced skills in a safe and controlled environment. We conclude that both immersive and non-immersive VR represents a valuable supplement to traditional therapies, allowing for personalized approaches.

HighlightsWhat are the main findings?•A 12-week exercise program reduced specific primitive reflex retention (e.g., ATNR) and improved fine motor coordination, particularly in children with ASD and ADHD.•The intervention led to significant behavioral improvements in the ADHD group, as evidenced by reductions in Conners 3 Total and Global Index scores.What is the implication of the main finding?•Movement-based interventions focusing on rhythm, balance, and coordination may facilitate motor and behavioral development in neurodevelopmental conditions, though effects may vary by diagnosis.•Such interventions have potential applicability in clinical and educational settings to support self-regulation and developmental outcomes in ASD and ADHD.Objective: Retained primitive reflexes are associated with delayed motor and behavioral development in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This study examined the effects of a 12-week structured exercise intervention on reflex integration, motor coordination, and socio-behavioral outcomes in these populations. Method: Fifteen children with ASD (13 boys, 2 girls) and twelve with ADHD (8 boys, 4 girls), aged 6–12 years, participated in rhythmic, balance, and coordination-based exercises. Primitive reflexes, including the asymmetrical tonic neck reflex (ATNR), were assessed using standardized protocols, and fine motor coordination was evaluated using the Finger and Thumb Opposition Test (FOT). Behavioral outcomes were measured using the Social Responsiveness Scale-2 (SRS-2) for the ASD group and the Conners 3 for the ADHD group. Results: The ASD group showed significant reductions in left-standing ATNR retention scores (p = 0.012) and improvements in right-hand FOT scores (p = 0.023). In the ADHD group, significant improvements were also observed in right-hand FOT scores (p = 0.007). Furthermore, Conners 3 Total and Global Index scores significantly decreased in the ADHD group (p = 0.016 and 0.020, respectively). Reflex retention patterns appeared broader and more bilateral in ASD than in ADHD, suggesting distinct motor developmental profiles. Conclusions: Short-term rhythmic, balance, and whole-body coordination exercise interventions may support behavioral and motor development in children with ASD and ADHD. Tailored programs emphasizing reflex integration hold promise for clinical and educational applications.

BackgroundThe continuous performance task (CPT) may help identify coexistent attention deficit hyperactivity disorder (ADHD) in autism spectrum disorder (ASD). The Quantified behavior Test (QbTest) combines a CPT and motion-tracking data to assess ADHD symptoms. This study aimed to evaluate the QbTest performance of children and adolescents with ASD plus ADHD, including estimating the effects of single-dose methylphenidate (MPH). To achieve these aims, (1) the QbTest performances were evaluated in ASD alone, ASD plus ADHD, and ADHD alone, and (2) the effects on the QbTest performance of single-dose MPH before and after intake were estimated across the groups. It was assumed that the ASD plus ADHD performance, including the MPH response, would preferably resemble the performance in ADHD alone, rather than ASD alone.MethodsRetrospective data were analyzed for 482 children and adolescents: 69 with ASD alone, 142 with ASD plus ADHD (ASD/ADHD), and 271 with ADHD alone. For 343 subjects, the QbTest was performed before and up to four hours after a single-dose MPH intake. A summary index of the CPT and motion-capture data was provided for QbTest cardinal parameters.ResultsOf 12 QbTest parameters assessed before given MPH, the ASD/ADHD group had scores in line with the ASD group regarding four parameters and the ADHD group regarding nine parameters. Significant differences between groups were seen with respect to QbInattention (p > 0.05); the lowest scores in ASD and the highest in ADHD. Those with ASD/ADHD and ADHD had similar QbActivity and QbImpulsivity scores, but significantly higher than those with ASD. After MPH intake, scores for QbActivity decreased similarly in ASD/ADHD and ADHD, as well as scores for QbImpulsivity. QbImpulsivity increased in ASD. QbInattention scores decreased similarly in all groups after MPH intake.ConclusionsChildren and adolescents with ASD plus ADHD exhibited more atypical QbTest performances than those with ASD alone, while most of their performances were similar to those observed in ADHD alone. In addition, a single dose of MPH mitigated attention deficits and decreased hyperactivity while improved impulsivity in these children. Prospective studies should further clarify the role of the QbTest in the diagnostic and therapeutic interventions in ASD with ADHD.

Over a half of all proteins are glycosylated, and their proper glycosylation is essential for normal function. Unfortunately, because of structural complexity of nonlinear branched glycans and the absence of genetic template for their synthesis, the knowledge about glycans is lagging significantly behind the knowledge about proteins or DNA. Using a recently developed quantitative high throughput glycan analysis method we quantified components of the plasma N-glycome in 99 children with attention-deficit hyperactivity disorder (ADHD), 81 child and 5 adults with autism spectrum disorder, and a total of 340 matching healthy controls. No changes in plasma glycome were found to associate with autism spectrum disorder, but several highly significant associations were observed with ADHD. Further structural analysis of plasma glycans revealed that ADHD is associated with increased antennary fucosylation of biantennary glycans and decreased levels of some complex glycans with three or four antennas. The design of this study prevented any functional conclusions about the observed associations, but specific differences in glycosylation appears to be strongly associated with ADHD and warrants further studies in this direction.

Background Attention-Deficit/Hyperactivity Disorder (ADHD) is the most common neurodevelopmental disorder in children (Polanczyk, Willcutt, Salum, Kieling, &amp; Rohde, 2014) and is highly comorbid with Autism Spectrum Disorder (ASD) (Green et al., 2015; Kotte et al., 2013). Although it is well established that children with ADHD or ASD and their families experience poorer functioning including child and parent mental health problems, child peer problems, poorer family quality of life (FQoL) and parenting difficulties, it is unknown how comorbid ASD symptoms contribute to child and family functioning in children with ADHD. It is important to understand which comorbidities contribute to poorer child and family functioning to guide treatment planning. Aims This study aimed to examine the prevalence of ASD symptoms in children with ADHD and the association between ASD symptoms and child and family functioning across three connected studies. The specific aims of each study are outlined below. Study 1. To examine the prevalence and type of ASD symptoms (social interaction, communication and stereotyped behaviour) in children with ADHD and non-ADHD controls. Within the ADHD group only, we also examined the relationship between ADHD subtype, hyperactive/impulsive and inattentive symptoms, ADHD symptom severity and child gender and ASD symptom severity. Study 2. To examine the association between ASD symptoms and (a) social functioning; (b) mental health; (c) quality of life and (d) sleep, in children with and without ADHD. Study 3. To examine the association between ASD symptoms (measured dimensionally) in children with and without ADHD and a broad range of family functioning variables and to examine differences between ADHD+ASD, ADHD and control groups on family functioning variables. Methods Participants were 6-10 year old children (164 ADHD; 198 non-ADHD control) attending 43 schools in Melbourne, Australia, who were participating in the Children’s Attention Project. ADHD was assessed in two stages using the parent and teacher Conners’ 3 ADHD index and the Diagnostic Interview Schedule for Children IV (DISC-IV). ASD symptoms were identified using the Social Communication Questionnaire (SCQ). Child functioning measures were social functioning (Strengths and Difficulties Questionnaire (SDQ), mental health (DISC-IV, SDQ), quality of life (QoL: Pediatric Quality of Life Inventory 4.0) and sleep problem severity. Family functioning outcome variables were parent mental health, family quality of life (FQoL), and scales assessing couple conflict, couple support and parenting behaviours. Unadjusted and adjusted linear and logistic regression examined continuous and categorical outcomes, respectively. Results Study 1. Children with ADHD had more ASD symptoms than non-ADHD controls (adjusted mean difference = 4.0, 95% confidence interval (CI) 2.8; 5.3, p &lt; 0.001, effect size = 0.7). Boys with ADHD had greater ASD symptom severity than girls with ADHD (adjusted mean difference = 2.9, 95% CI 0.8; 5.2, p = 0.01, effect size = 0.4). Greater ADHD symptom severity was associated with greater ASD symptom severity (regression co-efficient = 1.6, 95% CI 1.2; 2.0, p &lt; 0.001). No differences were observed by ADHD subtype. Greater hyperactive/impulsive symptoms were associated with greater ASD symptoms (regression coefficient = 1.0; 95% CI 0.0; 2.0, p = 0.04) however, this finding attenuated in adjusted analyses, which accounted for parent educational attainment, socioeconomic status, child internalising and externalising comorbidities (p = 0.45). Study 2. Each standard deviation (SD) increase in SCQ scores was associated with a 6.7 unit reduction in QoL (p &lt; 0.001) and greater parent and teacher-reported peer problems, emotional and conduct problems. For every SD increase in SCQ scores, internalising (OR = 1.8, 95% CI 1.3, 2.6, p = 0.001) and externalising disorders (OR = 1.5, 95% CI 1.1, 2.1, p = 0.02) increased, as did moderate/severe sleep problems (OR = 1.5, 95% CI 1.0, 2.2, p = 0.04). Most findings held in analyses adjusting for socio-demographic factors, ADHD symptom severity, and comorbidities (when not the outcome), with the exception of externalising disorders and sleep problems. Study 3. In unadjusted dimensional analyses, higher ASD symptoms were associated with more couple conflict (p = 0.04) and poorer FQoL for all subscales (p ≤ 0.001), with non-significant trends for less couple support (R2 = 0.10, p = 0.06), more hostile parenting (R2 = 0.02, p = 0.06) and poorer parent mental health (R2 = 0.02, p = 0.07). In adjusted dimensional analyses, higher ASD symptoms were only associated with poorer FQoL, across all subscales only (p ≤ 0.01). The trend association between ASD symptoms and parent mental health attenuated due to meaningful associations with comorbid internalising disorder (p = 0.003) and ADHD symptom severity (p = 0.05). The trend association between ASD symptoms and hostile parenting attenuated due to significant associations with comorbid externalising disorders (p = 0.002), lower parent education attainment (p = 0.03) and greater ADHD symptom severity (p = 0.04). Less couple support attenuated due to a significant association with socioeconomic status (p = 0.004). In unadjusted categorical analyses, parents of children with ADHD+ASD reported more couple conflict (p = 0.04), less couple support (p = 0.001), poorer FQoL (p &lt;0.001) and a non-significant trend for greater mental health difficulties (p = 0.07), compared to the ADHD group. In adjusted categorical analyses, parents of children with ADHD+ASD had poorer parent self-efficacy (p = 0.02), poorer FQoL (p &lt; 0.05) (p &lt; 0.05) and a non-significant trend for less couple support (p = 0.06), compared to parents of children with ADHD. In unadjusted categorical analyses, family functioning was significantly poorer for the ADHD and ADHD+ASD groups, compared to controls for most outcomes (p &lt;0.001). In adjusted categorical analyses, all findings attenuated except FQoL was significantly poorer for the ADHD and ADHD+ASD groups, compared to controls. Conclusion ASD symptoms are common, and associated with poorer functioning in children with ADHD. It is important for clinicians working with children with ADHD to identify and manage ASD symptoms, given that they exacerbate functional impairments in this already vulnerable group. The relationship between ASD symptoms and broader family functioning appears to be largely driven by internalising and externalising disorders, ADHD severity, and socioeconomic status. Poorer FQoL appears to be independently associated with ASD symptoms in children with ADHD.

Vesicoureteral reflux (VUR) is a major risk factor for recurrent symptomatic urinary tract infection (UTI) in pediatric patients. In addition, dimercaptosuccinic acid renal scintigraphy (DMSA) is an important diagnostic modality of VUR. However, the value of DMSA for predicting recurrent pediatric UTI has not been studied. Therefore, we aimed to develop visual scoring system (VSS) with DMSA to predict the risk of recurrence of symptomatic urinary tract infection in pediatric patient under the age of 24months. Pediatric UTI patients who visited our tertiary hospital emergency department and underwent DMSA for initial work-up from January 2006 to December 2014 were reviewed retrospectively. We developed a VSS with Tc-99m DMSA renal scintigraphy. We compared sensitivity and specificity between VSS with DMSA and other variables in predicting recurrent symptomatic UTI. Laboratory indices for systemic inflammation, abnormal finding on ultrasonography, VUR on voiding cystourethrogram (VCUG), and the VSS with DMSA were considered as variables. In addition, we used Kaplan-Meier estimator analyses and Cox proportional regression analyses to evaluate the predictive value of each variable for the recurrence of symptomatic UTI. A total of 338 patients were enrolled. During the follow-up period, 42 patients (12.4%) had UTI recurrence. Visual scoring with DMSA resulted in 69.1% sensitivity and 79.4% specificity with an optimal cut-off value of score 2 (AUC = 0.790, p < 0.001). Significant predictive factors associated with recurrent symptomatic UTI were CRP ≥ 67.0mg/L, VUR on VCUG and VSS with DMSA ≥ score 2. On multivariate analysis, the visual score with DMSA was the only independent prognostic factor for recurrent symptomatic UTI (p < 0.001; adjusted hazard ratio = 7.522; 95% CI = 2.799-20.224). High scores in VSS with DMSA were associated with frequent recurrence and short recurrence periods in pediatric UTI patients. VSS with DMSA can stratify risk of recurrence in pediatric UTI patients.

IntroductionNeurodevelopmental disorders are prevalent worldwide, with an increase in diagnoses in recent years (Faraone et al. Neurosci Biobehav Rev. 2021; 789-818; Russel et al. J Child Psychol Psychiatry 2022; 674-682). Individuals diagnosed with conditions such as Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), Specific Learning Disorder (SLD) and Language Development Disorder (DLD) are considered neurodivergent and constitute the so-called neurominorities (Doyle, N. British medical bulletin 2020; 108-125). Studies have shown that adults with ADHD and ASD have lower scores when assessed for quality of life, compared to neurotypicals (Pinho et al, J Atten Disord 2019; 1736-1745; Sáez-Suanes & Álvarez-Couto, Rev J Autism Dev Disord 2022; 307-319).ObjectivesThe present study aims to describe the quality of life of neurodivergent students.MethodsThe research was cross-sectional, prospective and quantitative. The project was approved by the Research Ethics Committee. A total of 79 neurodivergent university students from public and private universities in the State of São Paulo participated in the research. The study was carried out remotely through the Google Forms platform with application of the TCLE and WHOQOL-DIS instruments.ResultsIt was observed that 30% of the participants had a diagnosis of ASD, while 48% had ADHD, 8% had ADD, 14% had ASD with ADHD and none had a diagnosis of DLD or SLD. It is worth mentioning that in the questions about quality of life and health, 18% were dissatisfied. Regarding the ability to perform tasks, 13% reported that physical pain prevented them and 70% reported needing medical treatment. Regarding levels of personal satisfaction, 37% said they were dissatisfied with their sleep, 20% were not satisfied as a person and 28% scored completely dissatisfied with access to health services. Regarding well-being and neurodivergence, 30% of the participants were completely unhappy and 15% stated that their limitation had a negative effect on their life. Regarding autonomy, belonging, and self-perception, 23% reported total dissatisfaction with their communication skills and 41% stated that they were completely dissatisfied with their involvement in social activities. Finally, regarding strengths and weaknesses, 32% of the subjects reported not being at all satisfied with their work opportunities, 29% were in the same situation regarding the adaptations of the environment to their limitations, and 14% reported dissatisfaction with study opportunities.ConclusionsThis study was able to analyze the perspective on the quality of life of neurodivergent university students. However, due to the various biases that involve this population, it is necessary to seek broader answers, looking at the national scope to provide a better understanding of quality of life, including in the academic environment.Disclosure of InterestNone Declared

Little is known about the frequency and clinical course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in pediatric patients with severe comorbidities. In this prospective cross-sectional trial, the seroprevalence of SARS-CoV-2-IgG in patients with life-limiting conditions being treated by a large specialized pediatric palliative home-care team was determined. In order to gain insight into the infection chain, close contacts of seropositive patients were also included in the study. We analyzed the sera of 39 patients and found a 25.6% seroprevalence for SARS-CoV-2. No SARS-CoV-2 infections were known prior to the study. No significant difference was found in the symptom load between seropositive and seronegative patients during the risk period for SARS-CoV-2 infections. Of the 20 close contacts tested, only one was seropositive for SARS-CoV-2.Conclusions: Our results indicate a substantially high prevalence of silent SARS-CoV-2 infections in pediatric palliative care patients. Surprisingly, no severe outcomes were seen in this fragile patient collective with severe comorbidities. The chain of infection and thus the reason for the high frequency of SARS-CoV-2 infections in pediatric palliative care patients remain unclear.What is Known:•Even though severe disease courses of COVID-19 have been reported in children, there are yet no established risk factors for SARS-CoV-2 in pediatric patients.What is New:•In this cross-sectional seroprevalence study of palliative pediatric patients with severe life-limiting conditions, a high rate of seropositive patients (25.6%) was found.•Surprisingly, all seropositive patients were previously unrecognized, despite the severe comorbidities of our collective.

Objective One of the areas of social cognition is Theory of Mind (ToM) is defined as the capacity to interpret, infer and explain mental states underlying the behavior of others. When social cognition studies on neurodevelopmental disorders are examined, it can be seen that this skill has not been studied sufficiently in children with Specific Learning Disorder (SLD).Methods In this study, social cognition skills in children diagnosed with attention deficit hyperactivity disorder (ADHD), SLD or Autism Spectrum Disorder (ASD) evaluated before puberty and compared with controls. To evaluate the ToM skills, the first and secondorder false belief tasks, the Hinting Task, the Faux Pas Test and the Reading the Mind in the Eyes Task were used.Results We found that children with neurodevelopmental disorders as ADHD, ASD, and SLD had ToM deficits independent of intelligence and language development. There was a significant correlation between social cognition deficits and problems experienced in many areas such as social communication and interaction, attention, behavior, and learning.Conclusion Social cognition is an important area of impairment in SLD and there is a strong relationship between clinical symptoms and impaired functionality.

Neurodevelopmental disorders (NDDs) are a complex grouping of conditions arising in childhood relating to altered development and function of the brain. The primary conditions classified as NDDs include autism spectrum disorder (ASD), intellectual disability, attention deficit hyperactivity disorder, as well as motor, communication, and specific learning disorders. Many NDDs are known to have significant genetic risk, but the particular genes and molecular pathways controlling this genetic risk are still poorly understood. In addition to the genetic etiology of NDDs themselves, understanding the role of genetics in commonly associated comorbidities, such as sleep dysfunction or epilepsy in ASD, and how these insights might be leveraged to develop new therapeutics, remains a central goal of NDD genetic research. In ASD in particular, mutations in more than 100 genes have been significantly linked to increased risk for ASD. However, projections based on the frequency of mutations in these known risk genes has suggested that over 1000 genes may significantly increase risk for ASD when mutated. In response to this prediction, several machine learning approaches have been developed to use genome-wide data sources to predict which genes are the best candidates for ASD risk gene discovery. However, with different sources of data and training strategies used for each of these scores, there is not a clear consensus in the community on the most important predictors of genetic risk. My work develops a new ASD risk gene score that combines the benefits of all prior scores through a machine learning approach called ”ensemble learning”, unifying the previous scores while providing additional genome-wide data sources for model training. By comparing the previous scores with my work, I demonstrate the effectiveness of ensemble learning in this setting, and provide an ASD risk gene score that is enriched across a variety of ASD genetic data domains, such as common variant risk and gene expression data. While ASD as a whole has many known genetic associations, differences in medical issues experienced by those with ASD are highly variable, and the genetic factors underlying these comorbidities remain unclear. For instance, more than 70% of individuals with ASD have issues with sleep, but it is unknown whether genetic changes explain this difference seen between individuals with of ASD. Simply put, we know that genetics plays a large role in ASD, but we do not know the specifics of how genes map to subtypes of ASD. My work bridges this gap by studying the genetics of sleep dysfunction within individuals with ASD. To my knowledge, I am the first to be able to demonstrate and report that sleep dysfunction in ASD has a significant genetic component. Further, I find that genetic risk for ADHD, BMI, and several other conditions heightens an autistic individual’s risk for having issues with sleep. This work also uncovers associations between the type of sleep issue an individual has and the drugs that may be most effective for restoring normal sleep. Another major medical issue faced by individuals with ASD is epilepsy, with over 20% of individuals diagnosed with ASD having or going on to develop epilepsy later in life. Similar to sleep issues in ASD, treatment options in epilepsy are often effective but fall short in approximately 30% of cases. Finding treatments for these individuals who fail to find relief from the standard of care options is of critical importance. My work uses a bioinformatic technique called drug repositioning to computationally prioritize drugs that may be capable of reversing the transcriptional state induced by epilepsy. This approach yielded 184 potential therapeutic compounds, of which 4 were selected and tested in a zebrafish model of epilepsy. Three of the four compounds showed significant seizure suppression activity, including one with no previous literature surrounding its use in epilepsy (pyrantel tartrate). While a diverse set of work, the common thread is leveraging computational genetic techniques to better understand the causes, symptoms, and treatments of neurodevelopmental and associated disorders. By using ensemble learning, this work establishes a unified autism risk gene score that effectively summarizes a gene’s level of association with autism. Through studying sleep issues in ASD, I find a significant role for common variant risk and establish several genetic associations for poor sleep in ASD, such as ADHD and BMI genetic risk factors. Lastly, by using gene expression to model an effective therapeutic for epilepsy, this work reports on the first possible use of pyrantel tartrate in the treatment of epilepsy. Taken together, these findings demonstrate the power of leveraging big genetic datasets and innovative techniques in order to understand complex disease.