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Speech-Language Pathology in the RASopathies

  • Heather L. Thompson

摘要

RAS/Mitogen-activated protein kinase (MAPK)Mitogen-activated protein kinase (MAPK) disorders, or RASopathiesRASopathies, are a group of disorders caused by molecular changes in the RAS/MAPK pathwayRAS/MAPK pathway. RASopathies include Cardio-facio-cutaneous syndromeSyndrome, Costello syndrome, Legius syndrome, Neurofibromatosis Type 1, and Noonan Syndrome, in addition to others. Many individuals with RASopathies exhibit concerns in the development of speech, language, and/or feeding, which can negatively impact quality of life. Speech-language pathologists are responsible for the assessment, intervention, and prevention of disorders related to communication and feeding/swallowing. The purpose of this chapter is to provide (1) an overview of the scope of practice and roles and responsibilities of speech-language pathologists (SLPs), (2) a description of the communication and feeding/swallowing concerns of individuals with RASopathies, (3) information concerning the assessment and intervention for communication and feeding/swallowing concerns for individuals with RASopathies, and (4) resources for access to SLP services for individuals with RASopathies.