Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach.

Conclusions: In terms of clinical implications, the heterogeneity of NF1 phenotypical manifestations needs to be considered when developing assessment and remediation approaches for children with complex NF1. PMID: 32089936 [PubMed]
Source: Case Reports in Psychiatry - Category: Psychiatry Tags: Case Rep Psychiatry Source Type: research

Related Links:

Abstract The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofibromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1...
Source: Behavior Genetics - Category: Genetics & Stem Cells Authors: Tags: Behav Genet Source Type: research
Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data. PMID: 31443616 [PubMed - as supplied by publisher]
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Discussion “Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of> 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC> 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion. There are ethnic differences f...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Conclusion In Table 1, an overview is presented of the complex roles of AAs described in this review regarding the microbiome-gut-immune-brain axis in ASD. Besides behavioral deficits, people with ASD are characterized by systemic inflammation, gastrointestinal immune-related disturbances and changes in the gut microbiota composition. Moreover, differences in levels of specific AAs in various body compartments, including the intestinal tract, blood, urine and brain have been reported in patients with ASD, as well as in rodent models for ASD. This review described that specific AAs can modulate the intestinal epithelial im...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder Deborah K. Sokol1, Bryan Maloney2, Cara J. Westmark3 and Debomoy K. Lahiri2,4* 1Pediatrics Section, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, United States2Indiana Alzheimers Disease Center, Department of Psychiatry, Stark Neuroscience Research Institute, Indiana University School of Medicine, Indianapolis, IN, United States3Department of Neurology, University of Wisconsin, Madison, WI, United States4Department of Medical and Molecular Genetics, Indiana Un...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
AbstractNeurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased risk for central nervous system (CNS) manifestations including structural, functional, and neoplastic disease. The mechanisms underlying the varied manifestations of NF1 are incompletely understood, but the loss of functional neurofibromin, resulting in sustained activation of the oncoprotein RAS, is responsible for tumorigenesis throu...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
Publication date: Available online 29 January 2019Source: NeuroImage: ClinicalAuthor(s): Eva Mennigen, Peter Schuette, Ariana Vajdi, Laura Pacheco, Tena Rosser, Carrie E. BeardenAbstractNeurofibromatosis type 1 (NF1) is a common single gene disorder resulting in multi-organ involvement. In addition to physical manifestations such as characteristic pigmentary changes, nerve sheath tumors, and skeletal abnormalities, NF1 is also associated with increased rates of learning disabilities, attention deficit hyperactivity disorder, and autism spectrum disorder. While there are established NF1-related structural brain anomalies, i...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
AbstractIn 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...
Source: Neuropsychology Review - Category: Neuroscience Source Type: research
AbstractBackgroundGene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS.MethodsParents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the...
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
AbstractBackgroundNeurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects>  8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes.MethodsA single-site triple-blind RCT of simvastatin vs. placebo was done. Assessment (baseline and 12-week endpoint) included peripheral MAPK assay, awake magnetic reson...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
More News: Autism | Brain | Children | Learning | Neurofibromatosis | Neurology | Psychiatry | Universities & Medical Training