Objective: Neurofibromatosis Type 1 (NF1) is a genetic syndrome that affects cognitive,
behavioral, and social development. Nonliteral language (NLL) comprehension has not …

Simple Summary Difficulties in sensory processing are often found in neurodevelopmental
disorders and can significantly impact how a child responds to and functions within their …

Objective: Auditory neuropathy (AN), a complex hearing disorder, presents challenges in
diagnosis and management due to limitations of current diagnostic assessment. This study …

INTRODUCTION—There are several clinically and genetically distinct forms of
neurofibromatosis: neurofibromatosis type 1, NF2-related schwannomatosis (NF2, formerly …

Children with neurofibromatosis type 1 (NF1) are at considerable risk for cognitive
difficulties, including visuospatial deficits and executive dysfunction. This study aimed to (1) …

Background A high proportion of patients with neurofibromatosis type 1 (NF1) present with
functional hearing deficiency as a result of neural abnormality in the late auditory brainstem …

My first foray into genetics and rare diseases was during my undergraduate medical degree
at the University of Sydney. I decided to take a year out from the constant exams and …

INTRODUÇÃO: Há uma variedade de manifestações não neoplásicas que acometem os
indivíduos com Neurofibromatose tipo 1 (NF1), incluindo alguns problemas …

People who aren't living with or caring for someone with neurofibromatosis type 1 with
plexiform neurofibromas (NF1-PN) don't always understand its impact. Below are some …