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Category: Project

Description: Craniofacial microsomia (CFM) is the second most common congenital condition related to the structure of the head and face after cleft lip/palate, occurring in an estimated one in every 3,000 to 5,600 live births. CFM results from disruption in the embryologic development of the first and second branchial arches, leading to asymmetric underdevelopment of the ear, mandible, temporomandibular joint, facial nerve, and facial soft tissue and musculature. Many children with CFM also demonstrate atypical structure of the tongue, larynx, and soft palate. All of these structures are involved in speech sound production. However, there is limited evidence as to the classification, etiology, and phenotype of speech sound production and/or disorders in individuals with CFM. For children with cleft lip and palate, widely accepted standards of care related to differential diagnosis of structural versus functional speech disorders are published. Comparable guidelines for individuals with CFM does not yet exist. The first step in development of speech-related standards of care is to understand how speech sound production manifests in individuals with CFM. Therefore, this scoping review will summarize current evidence that delineates the phenotype, etiology, and heterogeneity of speech sound production and disorders in individuals with CFM. We aim to identify gaps in our knowledge of speech sound production and disorders associated with CFM, to generate recommendations for future studies, and to inform future standard of care for evaluation and management by the craniofacial speech-language pathologist as part of multi-disciplinary care.