Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were significantly less likely to receive a community-based ASD diagnosis (p = 0.04) and understand non-verbal communication (p = 0.001). These findings underscore the importance of including social-communication ability among relevant developmental concerns in children with NF1.
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http://dx.doi.org/10.1007/s10803-016-2877-3 | DOI Listing |
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 PDFAppl 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 PDFCancers (Basel)
January 2025
Sophia, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Neuro-Oncology/Neurology, Erasmus MC Cancer Institute, 3015 GD Rotterdam, The Netherlands.
Physicians face clinical dilemmas in the diagnosis of non-optic intraparenchymal lesions on MRI brain scans of patients with neurofibromatosis type 1. As the incidence and evolution of these lesions into adulthood remain unclear, we conducted a retrospective study on this topic. All adult neurofibromatosis type 1 patients who had at least one MRI brain scan in our center were selected for this study.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
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