Abstract
PurposeSpeech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management.MethodBest practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review.ResultsThis document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population.ConclusionEarly diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.
Highlights
The highly complex nature of speech disorders, language impairment, and cognitive–behavioral difficulties, together with the variable availability of therapeutic resources, all contribute to ongoing speech and language difficulties across the life span
SLPs can serve as liaisons to other health care professionals and educators working with children with 22qDS, as well as initiate referrals to appropriate medical, educational, and behavioral health care providers
The combination of persistent language deficits, social communication impairment, speech sound and motor speech disorders, VPD, and cognitive and behavioral disorders makes the communicative profile of this syndrome unique and treatment especially challenging
Summary
The highly complex nature of speech disorders, language impairment, and cognitive–behavioral difficulties, together with the variable availability of therapeutic resources, all contribute to ongoing speech and language difficulties across the life span. Long-term speech outcome studies are needed to assess the effectiveness of surgical intervention and speech therapy. See Appendix E for a summary of best practices for adults.
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