Academic Achievement of Children With Neurofibromatosis Type 1.

Background And Objectives: Learning difficulties are frequently reported in children with neurofibromatosis type 1 (NF1), yet little is known about the extent and predictors of their academic functions across ages. We aimed to examine the developmental patterns of academic achievement in these children from childhood to adolescence and how these patterns differ across demographic and NF1-related disease factors.

Methods: This cross-sectional study integrated data of 1512 children with NF1 (mean age, 11.

Long-term follow-up in pediatric intensive care-a narrative review.

Pediatric intensive care is a rapidly developing medical specialty and with evolving understanding of pediatric pathophysiology and advances in technology, most children in the developed world are now surviving to intensive care and hospital discharge. As mortality rates for children with critical illness continue to improve, increasing PICU survivorship is resulting in significant long-term consequences of intensive care in these vulnerable patients. Although impairments in physical, psychosocial and cognitive function are well documented in the literature and the importance of establishing follow-up programs is acknowledged, no standardized or evidence-based approach to long-term follow-up in the PICU exists.

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.

Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1.

Children with neurofibromatosis type 1 (NF1) are at considerable risk for cognitive difficulties, including visuospatial deficits and executive dysfunction. This study aimed to (1) assess the overall performance of children with NF1 on the Rey-Osterrieth Complex Figure Test (RCFT) compared to unaffected siblings and (2) examine neuropsychological predictors of RCFT performance in children with NF1. A retrospective clinical audit was performed on neuropsychological records from a multidisciplinary NF1 Clinic in Australia.

The anti-oxidative potential of ginger extract and its constituent on meat protein isolate under induced Fenton oxidation.

Ginger extract has been reported to possess antioxidant properties. However, components isolated from ginger have been rarely reported to inhibit oxidation. Herein, the antioxidant properties of ginger and purified components derived from it (6-gingerol, zingerone, rutin, quercetin, and kaempferol) were confirmed by using HPLC and were further used to investigate its effect on lamb meat.

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.

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.

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.

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.

Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial.

Introduction: Dopamine dysregulation has been identified as a key modulator of behavioural impairment in neurofibromatosis type 1 (NF1) and a potential therapeutic target. Preclinical research demonstrates reduced dopamine in the brains of genetically engineered NF1 mouse strains is associated with reduced spatial-learning and attentional dysfunction. Methylphenidate, a stimulant medication that increases dopaminergic and noradrenergic neurotransmission, rescued the behavioural and dopamine abnormalities.

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.

In light of the proliferation of recent research into social function in neurofibromatosis type 1 (NF1), a systematic review and meta-analysis is required to synthesise data and place findings within the context of a theoretical framework. This paper reviews findings from research into social function and autism spectrum disorder (ASD) in children and adults with NF1 and integrates these findings with the Socio-Cognitive Integration Abilities Model (SOCIAL). It also critically appraises links between social outcomes, internal and external factors moderating social functioning, cognitive domains implicated in social functioning, and underlying neural pathology in NF1.

The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study.

Impaired response inhibition is a predominant feature of several neuropsychiatric disorders; in general the underlying aetiology of these disorders and associated impairments is unknown. The common occurrence of impaired response inhibition in a single gene disorder such as neurofibromatosis type 1 (NF1), provides a valuable opportunity to explore its mechanistic basis through the study of gene-brain-behaviour interactions. We used functional brain imaging with a Go/No-Go task to examine the neural substrates of response inhibition in children with NF1 and age and gender matched typically developing subjects.

Impaired engagement of the ventral attention system in neurofibromatosis type 1.

Individuals with neurofibromatosis type 1 (NF1) exhibit significant impairments in attention across multiple domains. Very little is known about the contributing neural networks. We used task-based functional magnetic resonance imaging (fMRI) to examine dorsal and ventral attention networks during auditory oddball processing in children and adolescents with NF1 and typically developing controls.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3.

Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing.

Results: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1.

Theory of mind in children with Neurofibromatosis Type 1.

Objective: Neurofibromatosis Type I (NF1) is a single gene disorder associated with cognitive and behavioral deficits. While there is clear evidence for poorer social outcomes in NF1, the factors underlying reduced social function are not well understood. This study examined theory of mind (ToM) in children with NF1 and unaffected controls.

Early History of Chronic Obstructive Pulmonary Disease 1808-1980.

COPD has become a more popular research area in the last 3 decades, yet the first clear descriptions of acute and chronic bronchitis were in 1808. This brief history, comprehensively referenced, leads us through the early developments in respiratory physiology and their applications. It emphasises the early history of chronic bronchitis and emphysema in the 19(th) and early 20(th) centuries, long before the dominant effects of cigarette smoking emerged.

Glottal Aperture and Buccal Airflow Leaks Critically Affect Forced Oscillometry Measurements.

Background: The forced oscillation technique (FOT) measures respiratory resistance and reactance; however, the upper airways may affect the results. We quantified the impact of glottal aperture and buccal air leaks.

Methods: In the glottal aperture study (1) 10 healthy subjects (aged 34 ± 2 years) performed a total lung capacity maneuver followed by 10-s breath-hold with and without total glottal closure and (2) the effects of humming (incomplete glottal narrowing) on FOT measurements were studied in six healthy subjects.

Smoking cessation in COPD causes a transient improvement in spirometry and decreases micronodules on high-resolution CT imaging.

Background: Smoking cessation is of major importance for all smokers; however, in patients with COPD, little information exists on how smoking cessation influences lung function and high-resolution CT (HRCT) scan appearances.

Methods: In this single-center study, we performed screening spirometry in a group of heavy smokers aged 40 to 80 years (N = 358). We then studied the effects of smoking cessation in two groups of selected subjects: smokers with COPD (n = 38) and smokers with normal spirometry (n = 55).

Social functioning in adults with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a common single-gene disorder characterised by a diverse range of cutaneous, neurological and neoplastic manifestations. It is well recognised that children with NF1 have poor peer interactions and are at risk for deficits in social skills. Few studies, however, have examined social functioning in adults with NF1.

The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a common genetic condition associated with cognitive and social dysfunction as well as abnormal brain structure. The pathophysiology underlying social dysfunction in NF1 is poorly understood. Here, we investigate for the first time whether there is a broad deficit of social cognition in NF1 and explore the neural correlates for these deficits.