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 ...
Acute and/or chronic pain, particularly back and plexiform-related pain were common symptoms, and despite a significant impact on quality of life, was untreated in most instances. Symptom and examination-directed imaging revealed serious complications in 41% of the cohort. These included severe ...
Weiss B, Plotkin S, Widemann B, et al. NFM-06. NF106: Phase 2 trial of the MEK inhibitor PD-0325901 in adolescents and adults with NF1-related plexiform neurofibromas: An NF clinical trials consortium study [Abstract]. Neuro Oncol 2019; 20(Suppl 2):i143. Robertson KA, Nalepa G, Yang...
Table 1 Frequency of clinical symptoms in patients with type-1NF1microdeletions investigated by Mautner et al. (2010) and in the general NF1 population Full size table In addition to the previously mentioned clinical features, type-1NF1microdeletion patients were found to have an increased risk ...
Neurofibromatosis Type 1 (NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients' quality of life ... Lai, Jin-Shei,SE Jensen,ZS Patel,... - 《American Journal of Medical Genetics Part A》 被引量: 3发表: 2016年 Experience of patien...
in the index patient.12 It is likely that the athypical symptoms observed in this patient resulted from the additive effect of two mutations European Journal of Human Genetics p.Arg1809Cys substitution in neurofibromin V Pinna et al 1071 affecting different genes, as reported in some subjects ...
Adults present with similar symptoms, although the cause may be intracranial hemor- rhage. Hemorrhage is responsible for approximately half of all deaths resulting from NF1 cerebrovascular disease. Pathology and pathogenesis The histopathology of NF1 vascular lesions was first de- scribed by Reubi19...
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...
Conclusion The NF1‐AdQoL is a relatively valid, feasible and fairly easy to read tool to measure the HRQoL of adults with NF1. Further evaluation is required to determine the test–retest reliability, responsiveness and validity of the NF1‐AdQoL in larger adult NF1 cohorts....
It is influenced by, and in turn influences patients' clinical symptoms, familial and societal supports and life situation. QoL is a legitimate alternative to traditional clinical outcome measures of treatment efficacy and is central to assessments of general well-being. QoL is quantifiable by ...