Plasschaert E, Descheemaeker MJ, Van Eylen L, et al. Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet 2015; 168B:72. Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children ...
认知和学习障碍— 应监测NF1患儿的发育进展。一项纳入66例NF1患儿的分析发现,孤独症谱系障碍(autism spectrum disorder, ASD)相关症状较常见,1/3的患者可能出现有临床意义的ASD症状[39]。在一年1次的评估中,应仔细进行神经系统检查。应该了解患儿的发育史,检视其学业进展。如果确定了关注区域,应立即进行正式的教育评...
Current therapies are aimed at alleviating NF1 clinical symptoms but not curing the disease. By altering pathogenic genes, gene therapy regulates cell activities at the nucleotide level. In this review, we described the structure and functions of neurofibromin domains, including GAP-related domain [...
NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have...
However, early detection of malignant transformation remains a clinical challenge, as there are no specific symptoms, and malignant tumors are usually deep-seated and not always accessible by physical examination alone. Whole-body magnetic resonance imaging (WB-MRI) is the imaging method of choice ...
3The clinical course of NF1 is heterogeneous and manifests in a variety of symptoms across numerous organ systems, including abnormal pigmentation, skeletal deformities, tumor growth and neurological complications, such as cognitive impairment...
some variability in expression of the clinical symptoms has been detected (Mautner et al.2010). Hence, the phenotype associated withNF1microdeletions is likely to be influenced to a certain degree by the genetic background (e.g. the expression level of non-deleted genes), as well as by envi...
Most of the clinical symptoms of the disease are age dependent and considerable phenotypic variability has been described both between and within families.3,4 This genetic disorder is caused by mutations in the NF1 gene, one of the largest human genes, composed of 60 exons and spanning more ...
The highly variable inter- and intrafamilial expressivity and age-dependency of most symptoms undoubtedly hampers the accurate NF1 clinical diagnosis, especially in infants and individuals with mosaic NF1. Indeed, nearly half of sporadic NF1-affected children do not fulfill the NIH diagnostic criteria...
NF1 is a rare genetic disorder affecting approximately 1 in 3,000 individuals, yet awareness remains low in Thailand. NF1 is caused by both genetic inheritance and spontaneous mutation, with 50% of cases inherited and 50% occurring through random genetic change. Despite its prevalent symptoms, ...