The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations are based on the committee's clinical experiences, a review of pertinent English language medical articles, and reports of expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of an individual patient.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338721PMC
http://dx.doi.org/10.1007/s10897-007-9101-8DOI Listing

Publication Analysis

Top Keywords

neurofibromatosis type
8
genetic counseling
8
genetic counselors
8
nf1 recommendations
8
recommendations
7
genetic
4
type genetic
4
counseling practice
4
practice recommendations
4
recommendations national
4

Similar Publications

Background And Objective: Neurofibromatosis-1 (NF1) dystrophic scoliosis is a challenging disease to manage surgically, with multiplanar curves progressing rapidly and unpredictably. Conservative management with bracing is often unsuccessful, and many patients necessitate instrumented fusion to halt progression of their curves. In rare cases, patients can present with spontaneous vertebral subluxation, significantly complicating the surgical management of this already complex disease process.

View Article and Find Full Text PDF

NF1 encodes the multifunctional tumour suppressor protein, neurofibromin, which is best known for its causative role in Neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, where the G alpha q pathway is almost always activated.

View Article and Find Full Text PDF

Diagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.

BMC Pediatr

January 2025

Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.

View Article and Find Full Text PDF

Tablet computer-based cognitive training for visuomotor function in a child with neurofibromatosis type 1: A case-report.

Appl Neuropsychol Child

January 2025

Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Korea.

Visuomotor function impairment is commonly observed in individuals with neurofibromatosis type 1 (NF1). In this case report, a 13-year-old child diagnosed with NF1 and impaired visuomotor skills participated in an 8-week tablet computer-based cognitive training for visuomotor function. The Beery-Buktenica Developmental Test of Visual-Motor Integration, 6th Edition (VMI-6) and the Korean Smartphone Addiction Proneness Scale for Youth were administered before and after the intervention to assess effectiveness.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!