Executive function is associated with the development of math performance in children born at <30 weeks' gestation or <1250 g birthweight.

Objective: To describe associations between executive function (EF) domains (attentional control, information processing, cognitive flexibility, and goal setting) and concurrent math computation performance at age 7 and 13 years in children born <30 weeks' gestation or weighing <1,250 g, and second, to examine the impact of 7-year EF on math performance at 13 years.

Method: In a prospective, longitudinal cohort of children born <30 weeks' gestation or with a birthweight <1,250 g, assessment of EF and math performance was undertaken at 7 (n = 187) and 13 years (n = 174). Linear regression models were used to describe associations between EF domains with math performance at both time points, as well as to examine the impact of EF at 7 years on math performance at 13 years.

A comparison of gender diversity in transgender young people with and without autistic traits from the Trans 20 cohort study.

Background: There is an elevated co-occurrence of autism in trans individuals, with recent meta-analyses suggesting that 11% of trans individuals are autistic. The presence of autism in trans young people can create clinical challenges by adding complexity to the presentation, assessment and management of those presenting to gender clinics. Although many trans young people display traits of autism, how these traits relate to the nature of their gender diversity is unclear.

Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.

Despite the evidence of elevated autistic behaviors and co-occurring neurodevelopmental difficulties in many children with neurofibromatosis type 1 (NF1), we have a limited understanding of the sensory processing challenges that may occur with the condition. This study examined the sensory profile of children and adolescents with NF1 and investigated the relationships between the sensory profiles and patient characteristics and neuropsychological functioning. The parent/caregivers of 152 children with NF1 and 96 typically developing children completed the Sensory Profile 2 (SP2), along with standardized questionnaires assessing autistic behaviors, ADHD symptoms, internalizing symptoms, adaptive functioning, and social skills.

Understanding nonliteral language abilities in children with neurofibromatosis type 1.

Objective: Neurofibromatosis Type 1 (NF1) is a genetic syndrome that affects cognitive, behavioral, and social development. Nonliteral language (NLL) comprehension has not been examined in children with NF1. This study examined NLL comprehension in children with NF1 and associated neuropsychological correlates.

Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.

Atypical habituation to repetitive information has been commonly reported in Autism Spectrum Disorder (ASD) but it is not yet clear whether similar abnormalities are present in Neurofibromatosis Type 1 (NF1). We employed a cross-syndrome design using a novel eye tracking paradigm to measure habituation in preschoolers with NF1, children with idiopathic ASD and typically developing (TD) children. Eye movements were recorded to examine fixation duration to simultaneously presented repeating and novel stimuli.

A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.

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.

Early parenting behaviour is associated with complex attention outcomes in middle to late childhood in children born very preterm.

Attention deficits are common in children born very preterm (VP), especially for children with higher social risk. The aim of this study was to examine the association between parenting behavior and attention in children born VP, and whether this association is influenced by familial social risk. Two hundred and twenty-four children born <30 weeks' gestation and/or with a birth weight <1250 g were recruited at birth.

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

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.

Delineating the autistic phenotype in children with neurofibromatosis type 1.

Background: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics.

Methods: Participants were drawn from a larger cross-sectional study examining autism in children with NF1.

Auditory Dysfunction Among 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.

Behavioral Intervention for Social Challenges in Children and Adolescents: A Systematic Review and Meta-analysis.

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.

The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1.

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.

Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMC) from individuals with neurofibromatosis type (NF1). PBMC reprogramming was performed using a non-integrative Sendai virus containing the reprogramming factors OCT4, SOX2, MYC and KLF4. All iPSC lines exhibited a normal karyotype, and pluripotency was validated by flow cytometry (EPCAM, TRA-1-81, SSEA1 and CD9) and immunofluorescence (OCT4 and Nanog).

Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.

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).

Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.

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. 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.

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.

Objective: Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments. However, translation from preclinical models to human clinical trials has proven challenging. Poor reproducibility of cognitive endpoints may provide one explanation for this finding.

Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study.

Introduction: Children with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. A complete framework is required to better understand autism in NF1, from neurobiological levels through to behavioural and functional outcomes. The primary aims of this study are to establish the frequency of ASD in children with NF1, examine the social cognitive phenotype, investigate the neuropsychological processes contributing to ASD symptoms and poor social functioning in children with NF1, and to investigate novel structural and functional neurobiological markers of ASD and social dysfunction in NF1.

Neonatal brain abnormalities and brain volumes associated with goal setting outcomes in very preterm 13-year-olds.

Executive dysfunction including impaired goal setting (i.e., planning, organization skills, strategic reasoning) is documented in children born very preterm (VP; <30 weeks/<1250 g), however the neurological basis for this impairment is unknown.

Language Trajectories of Children Born Very Preterm and Full Term from Early to Late Childhood.

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.

Goal Setting Deficits at 13 Years in Very Preterm Born Children.

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: <30 weeks/<1250 grams) and term born controls during late childhood. Additionally, early risk factors (neonatal brain abnormalities, medical complications, and sex) were examined in relationship to goal setting outcomes within the VP group.