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

Abstract

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.

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

“…Development delays need to be checked at every step of infancy and childhood, as early intervention can help provide support for children with the deletion [ 69 , 70 ]. The most common problems are motor delays and speech difficulty, which can be connected with very frequent conductive hearing impairment (HP:0000405) and muscular hypotonia (HP:0001252) [ 61 , 71 , 72 , 73 , 74 ]. Delays in reaching motor milestones and the emergence of language are common in children with 22q11.2DS.…”

Orofacial Function, Articulation Proficiency, and Intelligibility in 5-Year-Old Children Born With Cleft Lip and Palate

“…A significantly increased risk for comorbidities (e.g. psychiatric disorder, intellectual disability, language disorder, autism spectrum disorder, psychotic disorder, attention deficit/hyperactivity disorder) was found in a large Swedish register cohort study on children with orofacial clefts (Tillman et al, 2018 Márquez-Ávila et al, 2015;Persson, Lohmander, Jönsson, Óskarsdóttir, & Söderpalm, 2003;Solot et al, 2019), so that a substantial proportion of children with 22q11.2DS present with a cleft and CAS. Furthermore, there have been reports of submucous clefts being found when patients are assessed for suspected CAS (Murray et al, 2015) and…”

Submucous Cleft Palate Repair in Patients With 22q11.2 Deletion Syndrome

“…It has been suggested that intraoral structural indicators of SMCP should be identified as early as possible in the 22q DS population, with the recommendation of early initiation of speech sound intervention and a warning that lack of typical stigmata does not rule out possible occult SMCP (Solot et al, 2019). Early identification and initiation of speech therapy is recommended for this patient population and may be even more important in patients that will require SMCP repair.…”