Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.

Background/aims: Individuals with neurofibromatosis 1 may experience changes in their appearance due to physical manifestations of the disorders and/or treatment sequelae. Appearance concerns related to these physical changes can lead to psychological distress and poorer quality of life. While many neurofibromatosis 1 clinical trials focus on assessing changes in tumor volume, evaluating patients' perspectives on corresponding changes in symptoms such as physical appearance can be key secondary outcomes.

Repeat testing enhances long-term verbal memory in children with epilepsy.

To (i) determine whether accelerated long-term forgetting (ALF) can be found using standardized verbal memory test materials in children with genetic generalized epilepsy (GGE) and temporal lobe epilepsy (TLE), and (ii) to establish whether ALF is impacted by executive skills and repeat testing over long delays. One hundred and twenty-three children aged 8 to 16, (28 with GGE, 23 with TLE, and 72 typically developing; TD) completed a battery of standardized tests assessing executive functioning and memory for two stories. Stories were recalled immediately and after a 30-min delay.

Longitudinal assessment of the health-related quality of life of children and adolescents with chronic kidney disease.

In this multi-center longitudinal cohort study conducted in Australia and New Zealand, we assessed the trajectories of health-related quality of life (HRQoL) in children with chronic kidney disease (CKD) over time. A total of 377 children (aged 6-18 years) with CKD stages 1-5 (pre-dialysis), dialysis, or transplant, were followed biennially for four years. Multi Attribute Utility (MAU) scores of HRQoL were measured at baseline and at two and four years using the McMaster Health Utilities Index Mark 3 tool, a generic multi-attribute, preference-based system.

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.

Association between socioeconomic status and academic performance in children and adolescents with chronic kidney disease.

Background: Lower socioeconomic status (SES) is associated with lower academic achievement; however, this relationship is understudied in children with chronic kidney disease (CKD). This study examined the relationship between SES and academic performance in children and adolescents with CKD.

Methods: A total of 377 participants aged 6-18 years with CKD stages 1-5 (n = 199), on dialysis (n = 43) or with a kidney transplant (n = 135) were recruited.

Accelerated long-term forgetting in children with temporal lobe epilepsy: A timescale investigation of material specificity and executive skills.

Recently, children with temporal lobe epilepsy (TLE) were found to be at risk of accelerated long-term forgetting (ALF). In this study, we examined the temporal trajectory of ALF, while exploring the relationship between ALF, executive skills, and epilepsy variables. Fifty-one children, (23 with TLE and 28 typically developing) completed a battery of neuropsychological tests of verbal and visual memory, executive skills, and two experimental memory tasks (verbal and visual) involving recall after short (30-min) and extended (1-day and 2-week) delays.

Cognitive and academic outcomes in children with chronic kidney disease.

Background: Few data exist on the cognitive and academic functioning of children with chronic kidney disease (CKD) over the trajectory of their illness. We aimed to determine the association between CKD stages and cognitive and academic performance in children over time.

Methods: We included 53 participants (aged 6-18 years) with CKD stages 1-5 (n = 37), on dialysis (n = 3), or with functioning kidney transplant (n = 22) from three units in Australia from 2015 to 2019.

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.

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.

Longer term outcomes following serogroup B invasive meningococcal disease.

Aim: To characterise the physical, psychological, and quality of life burden associated with serogroup B invasive meningococcal disease (IMD) in children.

Methods: Children aged up to 14 years at the time of serogroup B IMD, who were admitted to intensive care units of two tertiary paediatric hospitals in New South Wales, Australia between January 2009 and December 2013 were recruited. Children underwent clinical and neuropsychological assessments up to 6 years post-disease.

School and educational support programmes for paediatric oncology patients and survivors: A systematic review of evidence and recommendations for future research and practice.

Objectives: The Psychosocial Standards of Care (PSSC) in paediatric oncology prescribe the minimum standards for education support. It is unknown, however, if published education support programmes for children with cancer meet the PSSC standards for education support. Successful implementation of standards for education support is challenging but may be achieved with guidance.

Neurocognitive Dysfunction and Smaller Brain Volumes in Adolescents and Adults With a Fontan Circulation.

Background: Neurocognitive outcomes beyond childhood in people with a Fontan circulation are not well defined. This study aimed to investigate neurocognitive functioning in adolescents and adults with a Fontan circulation and associations with structural brain injury, brain volumetry, and postnatal clinical factors.

Methods: In a binational study, participants with a Fontan circulation without a preexisting major neurological disability were prospectively recruited from the Australia and New Zealand Fontan Registry.

Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1.

Objective: Reading difficulties are one of the most significant challenges for children with neurofibromatosis type 1 (NF1). The aims of this study were to identify and categorize the types of reading impairments experienced by children with NF1 and to establish predictors of poor reading in this population.

Method: Children aged 7-12 years with NF1 (n = 60) were compared with typically developing children (n = 36).

Accelerated long-term forgetting in children with genetic generalized epilepsy: The temporal trajectory and contribution of executive skills.

Purpose: Long-term memory, which is critical for social and vocational functioning, is impaired in children with genetic generalized epilepsy (GGE). In this study, we examined the relationship between the temporal pattern of long-term forgetting for visual and verbal materials and executive skills in children with GGE.

Method: Thirty-two children, 17 with GGE and 25 typically developing age-matched controls completed standardized tests of short-term memory (recall after a 30-minute delay), executive skills, and experimental long-term memory tasks (one verbal and one visual) involving recall after one short (30-minute), and two long (1-day, 2-week) delays.

Developmental outcomes following vaccine-proximate febrile seizures in children.

Objective: To compare the developmental and behavioral outcomes of children experiencing an initial vaccine-proximate (VP) febrile seizure (FS) to those having a non-VP-FS (NVP-FS) and controls who have not had a seizure.

Methods: In this prospective multicenter cohort study, children with their first FS before 30 months of age between May 2013 and April 2016 were recruited from 4 Australian pediatric hospitals and classified as having VP-FS or NVP-FS. Similar-aged children with no seizure history were recruited as controls.

Effects of anxiety on preferences for generic medicines in Australia.

Generic medicines have been available to consumers for ∼40 years, with varying degrees of uptake in different countries. Despite offering equivalent therapeutic qualities, generic medicines still struggle to be accepted by consumers. This study examines the role of a consumer's affective state and framing effects on the purchase of a branded versus a generic pharmaceutical product.

AMEND study protocol: a case-control study to assess the long-term impact of invasive meningococcal disease in Australian adolescents and young adults.

Introduction: Invasive meningococcal disease (IMD) primarily causes disease in young children and adolescents and can cause long-term disability. Many countries are considering implementation of meningococcal B and/or meningococcal ACWY vaccines to control meningococcal disease. Estimating the cost-effectiveness of meningococcal vaccine programme is hampered due to a lack of good quality costing and burden of disease data.

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.

Theory of mind and social competence in children and adolescents with temporal lobe epilepsy.

Objective: The primary aim of this study was to examine theory of mind (ToM) and its relationship to social competence in children and adolescents with temporal lobe epilepsy (TLE). The secondary aim was to explore the relationship between ToM, social competence, epilepsy variables, and executive functioning (EF).

Method: Twenty-two children and adolescents (8-16 years old) with TLE and 22 typically developing controls completed two advanced behavioural tests of ToM (faux-pas, strange stories), measures of EF and verbal IQ.

Facial emotion perception and social competence in children (8 to 16 years old) with genetic generalized epilepsy and temporal lobe epilepsy.

Facial emotion perception (FEP) impairments are common in adults with epilepsy and associated with impaired psychosocial functioning. Research into the presence of FEP deficits in children with epilepsy and the functional implications of these deficits is limited. The primary aims of this study were to assess FEP abilities in children (8 to 16 years old) with genetic generalized epilepsy (GGE) and temporal lobe epilepsy (TLE) and examine whether FEP is related to everyday social functioning.

The association between socioeconomic disadvantage and parent-rated health in children and adolescents with chronic kidney disease-the Kids with CKD (KCAD) study.

Objective: To determine the association of socioeconomic disadvantage and parent-rated health in children with chronic kidney disease (CKD).

Methods: A total of 377 children (aged 6-18 years) with CKD stages I-V (n = 199), on dialysis (n = 43), or with a kidney transplant (n = 135) were recruited from 2012 to 2016 in Australia and New Zealand. Associations of five socioeconomic status (SES) components and the global SES index with parent-rated health of the child were examined using adjusted logistic regression.