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Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999. doi: 10.1044/2019_AJSLP-16-0147. Epub 2019 Jul 22.

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

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Center for Childhood Communication, 22q and You Center, Cleft Lip and Palate Program, Children's Hospital of Philadelphia, PA.
North Thames Regional Cleft Lip and Palate Service, Speech and Language Therapy Department and Centre for Outcomes and Experiences Research in Children's Health, Illness, and Disability, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
North Thames Regional Cleft Lip and Palate Service, Great Ormond Street Hospital/Broomfield Hospital, Essex, United Kingdom.
Department of Plastic Surgery, The Ohio State University College of Medicine, Columbus, OH.
Velopharyngeal Dysfunction Program and 22q Center, Section of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, OH.
Institute of Neuroscience and Physiology, Speech and Language Pathology Unit, Sahlgrenska Academy, University of Gothenburg, Sweden.
Speech and Language Pathology Clinic, Department of Otolaryngology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Section of Genetic Counseling, 22q and You Center, Clinical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA.


Purpose Speech 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. Method Best 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. Results This 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. Conclusion Early 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.


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