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Background A high proportion of patients with neurofibromatosis type 1 (NF1) present with functional hearing deficiency as a result of neural abnormality in the late auditory brainstem. Methods In this randomized, two-period crossover study, we investigated the hypothesis that remote-microphone listening devices can ameliorate hearing and communication deficits in affected school-aged children (7–17 years). Speech perception ability in background noise was evaluated in device-active and inactive conditions using the CNC-word test. Participants were then randomized to one of two treatment sequences: (1) inactive device for two weeks (placebo), followed by active device use for two weeks, or (2) active device for 2 weeks, followed by inactive device for 2 weeks. Listening and communication ratings (LIFE-R Questionnaire) were obtained at baseline and at the end of each treatment phase. Results Each participant demonstrated functional hearing benefits with remote-microphone use. All showed a speech perception in noise increase when the device was activated with a mean phoneme-score difference of 16.4% (p p = 0.017). Discussion Conventional hearing aids are typically ineffective as a treatment for auditory neural dysfunction, making sounds louder, but not clearer for affected individuals. In this study, we demonstrate that remote-microphone technologies are acceptable/tolerable in pediatric patients with NF1 and can ameliorate their hearing deficits. Conclusion Remote-microphone listening systems offer a viable treatment option for children with auditory deficits associated with NF1.

Children with neurofibromatosis type 1 (NF1) often experience executive dysfunction, attention deficit/hyperactivity disorder (ADHD) symptoms and poor social skills, however, the nature of the relationships between these domains in children with NF1 is unclear. This study investigated these relationships using primary caregiver ratings of executive functions, ADHD symptoms and social skills in children with NF1. Participants were 136 children with NF1 and 93 typically developing (TD) controls aged 3-15 years recruited from 3 multidisciplinary neurofibromatosis clinics in Melbourne and Sydney, Australia, and Washington DC, USA. Mediation analysis was performed on primary outcome variables: parent ratings of executive functions (Behavior Rating Inventory of Executive Function, Metacognition Index), ADHD symptoms (Conners-3/Conners ADHD Diagnostic and Statistical Manual for Mental Disorders Scales) and social skills (Social Skills Improvement System-Rating Scale), adjusting for potential confounders (full scale IQ, sex, and social risk). Results revealed significantly poorer executive functions, elevated ADHD symptoms and reduced social skills in children with NF1 compared to controls. Poorer executive functions significantly predicted elevated ADHD symptoms and poorer social skills. Elevated ADHD symptoms significantly mediated the relationship between executive functions and social skills problems although did not fully account for social dysfunction. This study provides evidence for the importance of targeting ADHD symptoms as part of future interventions aimed at promoting prosocial behaviors in children with NF1.

ObjectiveTo review parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of social deficit in children and adolescents (ages 6–18 years) with neurofibromatosis type 1 (NF1).MethodsSearches were conducted via PubMed and ClinicalTrials.gov to identity social skills outcome measures with English language versions used in clinical trials in the past 5 years with populations with known social skills deficits, including attention-deficit/hyperactivity disorder and autism spectrum disorder (ASD). Measures were rated by the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Neurocognitive Committee on patient characteristics, use in published studies, domains assessed, availability of standard scores, psychometric properties, and feasibility to determine their appropriateness for use in NF1 clinical trials.ResultsTwo measures were ultimately recommended by the committee: the Social Responsiveness Scale–2 (SRS-2) and the Social Skills Improvement System–Rating Scale (SSIS-RS).ConclusionsEach of the 2 measures assesses different aspects of social functioning. The SSIS-RS is appropriate for studies focused on broader social functioning; the SRS-2 is best for studies targeting problematic social behaviors associated with ASD. Researchers will need to consider the goals of their study when choosing a measure, and specific recommendations for their use are provided.

AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Responsiveness Scale, Second Edition (SRS-2) and the Social Skills Improvement System - Rating Scales (SSIS-RS), in children with neurofibromatosis type 1 (NF1). The aim of the study was to provide objective evidence as to which behavioural endpoint should be used in clinical trials. METHOD: Cross-sectional behavioural and demographic data were pooled from four paediatric NF1 tertiary referral centres in Australia and the United States (N=122; 65 males, 57 females; mean age [SD] 9y 2mo [3y], range 3-15y). RESULTS: Distributions of SRS-2 and SSIS-RS scores were unimodal and both yielded deficits, with a higher proportion of severely impaired scores on the SRS-2 (16.4%) compared to the SSIS-RS (8.2%). Pearson's product-moment correlations revealed that both questionnaires were highly related to each other (r=-0.72, p

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

A high proportion of patients with neurofibromatosis type 1 (NF1) present with functional hearing deficiency as a result of neural abnormality in the late auditory brainstem.In this randomized, two-period crossover study, we investigated the hypothesis that remote-microphone listening devices can ameliorate hearing and communication deficits in affected school-aged children (7-17 years). Speech perception ability in background noise was evaluated in device-active and inactive conditions using the CNC-word test. Participants were then randomized to one of two treatment sequences: (1) inactive device for two weeks (placebo), followed by active device use for two weeks, or (2) active device for 2 weeks, followed by inactive device for 2 weeks. Listening and communication ratings (LIFE-R Questionnaire) were obtained at baseline and at the end of each treatment phase.Each participant demonstrated functional hearing benefits with remote-microphone use. All showed a speech perception in noise increase when the device was activated with a mean phoneme-score difference of 16.4% (p 0.001) and reported improved listening/communication abilities in the school classroom (mean difference: 23.4%; p = 0.017).Conventional hearing aids are typically ineffective as a treatment for auditory neural dysfunction, making sounds louder, but not clearer for affected individuals. In this study, we demonstrate that remote-microphone technologies are acceptable/tolerable in pediatric patients with NF1 and can ameliorate their hearing deficits.Remote-microphone listening systems offer a viable treatment option for children with auditory deficits associated with NF1.

Key Points Question Is neurofibromatosis type 1 (NF1) associated with auditory neural dysfunction and functional hearing consequences? Findings In this case-control study of 44 individuals with NF1 and 44 matched control participants, 1 in 4 participants with NF1 showed evidence of auditory neural dysfunction, and 1 in 3 presented with abnormal functional hearing (speech perception). Diffusion-weighted magnetic resonance imaging analysis showed that participants with NF1 had significantly lower apparent fiber density within the ascending tracts of the brainstem. Meaning The findings of this study suggest that auditory dysfunction severe enough to impede developmental progress in children and restrict communication in older participants is a common neurobiological feature of NF1., This cohort study investigates auditory neural dysfunction and its perceptual consequences in individuals with neurofibromatosis type 1., Importance Neurofibromatosis type 1 (NF1) affects hearing through disruption of central auditory processing. The mechanisms, functional severity, and management implications are unclear. Objective To investigate auditory neural dysfunction and its perceptual consequences in individuals with NF1. Design, Setting, and Participants This case-control study included children and adults with NF1 and control participants matched on age, sex, and hearing level. Patients were recruited through specialist neurofibromatosis and neurogenetic outpatient clinics between April and September 2019. An evaluation of auditory neural activity, monaural/binaural processing, and functional hearing was conducted. Diffusion-weighted magnetic resonance imaging (MRI) data were collected from a subset of participants (10 children with NF1 and 10 matched control participants) and evaluated using a fixel-based analysis of apparent fiber density. Main Outcomes and Measures Type and severity of auditory dysfunction evaluated via laboratory testing and questionnaire data. Results A total of 44 participants (18 [41%] female individuals) with NF1 with a mean (SD) age of 16.9 (10.7) years and 44 control participants (18 [41%] female individuals) with a mean (SD) age of 17.2 (10.2) years were included in the study. Overall, 11 participants (25%) with NF1 presented with evidence of auditory neural dysfunction, including absent, delayed, or low amplitude electrophysiological responses from the auditory nerve and/or brainstem, compared with 1 participant (2%) in the control group (odds ratio [OR], 13.03; 95% CI, 1.59-106.95). Furthermore, 14 participants (32%) with NF1 showed clinically abnormal speech perception in background noise compared with 1 participant (2%) in the control group (OR, 20.07; 95% CI, 2.50-160.89). Analysis of diffusion-weighted MRI data of participants with NF1 showed significantly lower apparent fiber density within the ascending auditory brainstem pathways. The regions identified corresponded to the neural dysfunction measured using electrophysiological assessment. Conclusions and Relevance The findings of this case-control study could represent new neurobiological and clinical features of NF1. Auditory dysfunction severe enough to impede developmental progress in children and restrict communication in older participants is a common neurobiological feature of the disorder.

The relationships children form with their teachers in early childhood are known to be important in the context of their ongoing learning and development. This study investigated student–teacher relationship quality (STRQ) in grade one students with (n = 177) and without (n = 208) attention-deficit/hyperactivity disorder (ADHD). We also examined whether a range of child and teacher factors were associated with STRQ. Children (M = 7.3 years; SD = 0.4) were recruited through 43 schools and screened for ADHD using parent and teacher screening questionnaires (Conners 3 ADHD index). ADHD cases were confirmed using the diagnostic interview schedule for children version IV. STRQ was rated by teachers using the student–teacher relationship scale — short form. Results showed that children with ADHD experienced poorer STRQ compared to children without ADHD (Cohen’s d = 1.11). STRQ was associated with child sex, medication use, ADHD subtype, cognitive/academic functioning and behavior, teacher experience, and self-efficacy, and parent education and socio-economic status. After controlling for school and teacher clustering, children’s prosocial behavior and teacher years of experience were positively associated with STRQ in both groups. In children with ADHD, conduct problems and child sex (boys) predicted poorer teacher relationship quality. For children without ADHD, higher socio-economic status was associated with better STRQ. Targeting modifiable factors associated with STRQ for children with and without ADHD and their teachers may be one way of improving school outcomes for at-risk children. Promoting prosocial behavior in classrooms may benefit STRQ for all children.

Objective: We examined the contribution of attention and executive cognitive processes to ADHD symptomatology in NF1, as well as the relationships between cognition and ADHD symptoms with functional outcomes. Methods: The study sample consisted of 141 children and adolescents with NF1. Children were administered neuropsychological tests that assessed attention and executive function, from which latent cognitive variables were derived. ADHD symptomatology, adaptive skills, and quality of life (QoL) were assessed using parent-rated questionnaires. Path analyses were conducted to test relationships among cognitive functioning, ADHD symptomatology, and functional outcomes. Results: Significant deficits were observed on all outcome variables. Cognitive variables did not predict ADHD symptomatology. Neither did they predict functional outcomes. However, elevated ADHD symptomatology significantly predicted functional outcomes. Conclusion: Irrespective of cognitive deficits, elevated ADHD symptoms in children with NF1 negatively impact daily functioning and emphasize the importance of interventions aimed at minimizing ADHD symptoms in NF1.

ObjectiveTo investigate the changes in mental health and activities of children with chronic health conditions (CHC) during the pandemic. Additionally, to gather information from parents about their children’s healthcare experience, family stressors and mental health during the COVID-19 pandemic.DesignA prospective longitudinal single site cohort studySettingRoyal Children’s Hospital, Melbourne, AustraliaParticipants151 parents of children aged 1.5-17 years (M = 9.8 years, 58.3% male) with a CHC (colorectal disorder, cleft palate and neurofibromatosis type 1) completed the survey.Main outcome measuresAn adapted version of the COVID-19 Wellbeing and Mental Health Survey for Children and Adolescents (Parent/Caregiver version) (CRISIS) was utilised. The CRISIS tool provides data on child’s activities and mental health and parent mental health prior to, and during, the COVID-19 pandemic. Healthcare experiences families was also examined. Parents completed the Kessler 10.ResultsCompared to pre-COVID lockdown, parents reported their children were experiencing higher rates of loneliness, irritability, worry and anxiety. Parents reported that the restrictions in face-to-face contact with family and friends had been stressful for 80.0% of children. Children’s activities changed considerably during the COVID-19 pandemic with screen time increasing by 40%. Thirty percent of parents reported significant distress of their own. Parents felt telehealth were of poorer quality than face-to-face appointments.ConclusionsChildren with CHC experienced a significant increase in mental health symptoms during lockdown for the COVID-19 pandemic. Our findings highlight the increased need for clinical monitoring for children with CHC during periods of community stress and restrictions.

IMPORTANCE: Social deficits are a common and disabling feature of many pediatric disorders; however, whether behavioral interventions are associated with benefits for children and adolescents with social deficits is poorly understood. OBJECTIVE: To assess whether behavioral interventions in children and adolescents with neurodevelopmental or mental health disorders are associated with improvements in social function and social cognition, and whether patient, intervention, and methodological characteristics moderate the association. DATA SOURCES: For this systematic review and meta-analysis, the PsycINFO, MEDLINE, and PubMed electronic databases were searched in December 2020 for randomized clinical trials published from database inception to December 1, 2020, including terms related to neurodevelopmental or mental health disorders, social behavior, randomized clinical trials, and children and adolescents. Data were analyzed in January 2021. STUDY SELECTION: Randomized clinical trials that enrolled participants aged 4 to 17 years with social deficits and examined the efficacy of a clinician-administered behavioral intervention targeting social functioning or social cognition were included. A total of 9314 records were identified, 78 full texts were assessed for eligibility, and 33 articles were included in the study; 31 of these reported social function outcomes and 12 reported social cognition outcomes. DATA EXTRACTION AND SYNTHESIS: Articles were reviewed using the Cochrane Risk of Bias Assessment for randomized clinical trials. Data were independently extracted and pooled using a weighted random-effects model. MAIN OUTCOMES AND MEASURES: The main outcome was the association of behavioral intervention with social function and social cognition. Hedges g was used to measure the standardized mean difference between intervention and control groups. Standardized effect sizes were calculated for the intervention group vs the comparison group for each trial. RESULTS: A total of 31 trials including 2131 participants (1711 [80%] male; 420 [20%] female; mean [SD] age, 10.8 [2.2] years) with neurodevelopmental or mental health disorders (autism spectrum disorder [ASD] [n = 23], attention-deficit/hyperactivity disorder [n = 4], other conditions associated with social deficits [n = 4]) were analyzed to examine differences in social function between the intervention and control groups. Significantly greater gains in social function were found among participants who received an intervention than among the control groups (Hedges g, 0.61; 95% CI, 0.40-0.83; P

Executive dysfunction including impaired goal setting (i.e., planning, organization skills, strategic reasoning) is documented in children born very preterm (VP

Objective To identify distinct language trajectories of children born very preterm and full term from 2 to 13 years of age and examine predictors for the identified trajectories. Study design A cohort of 224 children born very preterm and 77 full term controls recruited at birth were followed up at ages 2, 5, 7, and 13 years. The number of distinct language trajectories was examined using latent growth mixture modeling allowing for linear and quadratic time trends. Potential predictors in the neonatal period (eg, birth group, sex, and medical risk) and at 2 years (ie, social risk and use of allied health services) for the language trajectories were tested using multinomial logistic regression. Results Five distinct language trajectories were identified across childhood: stable normal (32% of study cohort), resilient development showing catch-up (36%), precocious language skills (7%), stable low (17%), and high-risk (5%) development. The very preterm group was 8 times more likely to have a language trajectory that represented poorer language development compared with full term controls (very preterm, 40%; full term, 6%). Greater social risk and use of allied health services were associated with poorer language development. Conclusions Variable language trajectories were observed, with a substantial proportion of children born very preterm exhibiting adverse language development. These findings highlight the need for monitoring language skills in children born very preterm before school entry and across middle childhood.

Objectives:Preterm children demonstrate deficits in executive functions including inhibition, working memory, and cognitive flexibility; however, their goal setting abilities (planning, organization, strategic reasoning) remain unclear. This study compared goal setting abilities between very preterm (VP: Methods:Participants included 177 VP and 61 full-term born control children aged 13 years. Goal setting was assessed using several measures of planning, organization, and strategic reasoning. Parents also completed the Behavior Rating Inventory of Executive Function. Regression models were performed to compare groups, with secondary analyses adjusting for potential confounders (sex and social risk), and excluding children with major neurosensory impairment and/or IQResults:The VP group demonstrated a clear pattern of impairment and inefficiency across goal setting measures, consistent with parental report, compared with their full-term born peers. Within the VP group, moderate/severe brain abnormalities on neonatal MRI predicted adverse goal setting outcomes at 13.Conclusions:Goal setting difficulties are a significant area of concern in VP children during late childhood. These difficulties are associated with neonatal brain abnormalities, and are likely to have functional consequences academically, socially and vocationally. (JINS, 2018,24, 372–381)