Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study

Background Speech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history and current self-reported speech rating of adolescents and young adults, and examine the possible variables influencing the current speech ratings, including cleft palate, surgery, speech and language therapy, intelligence quotient, and age at assessment.

Methods In this cross-sectional cohort study, 50 adolescents and young adults with the 22q11.2 deletion syndrome (ages, 12-26 years, 67% female) filled out questionnaires. A neuropsychologist administered an age-appropriate intelligence quotient test. The demographics, histories, and intelligence of patients with normal speech (speech rating=1) were compared to those of patients with different speech (speech rating>1).

Results Of the 50 patients, a minority (26%) had a cleft palate, nearly half (46%) underwent a pharyngoplasty, and all (100%) had speech and language therapy. Poorer speech ratings were correlated with more years of speech and language therapy (Spearman's correlation= 0.418, P=0.004; 95% confidence interval, 0.145-0.632). Only 34% had normal speech ratings. The groups with normal and different speech were not significantly different with respect to the demographic variables; a history of cleft palate, surgery, or speech and language therapy; and the intelligence quotient.

Conclusions All adolescents and young adults with the 22q11.2 deletion syndrome had undergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech and language therapy for more years.

Keywords

22q11.2 deletion syndrome - Speech therapy - Cleft palate - Questionnaires - Adolescent

This article was presented as (Oral presentations) at the Nederlandse Vereniging voor Plastische Chirurgie Wetenschappelijke Vergadering (Nijmegen, The Netherlands, October 2013), the American Cleft Palate Association 71st Annual Meeting (Indianapolis, USA, March 2014), and The 9th International 22q11.2 Deletion Syndrome Meeting (Mallorca, Spain, June 2014).

The authors would like to thank Sanne Koops and Marije Rozendal for recruiting patients at the Department of Psychiatry, and Hester de Wilde for providing insight into the speech and language therapy regimen.

Publication History

Received: 09 May 2014

Accepted: 12 July 2014

Article published online:
05 May 2022

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