Arch Plast Surg.  2014 Sep;41(5):472-479. 10.5999/aps.2014.41.5.472.

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

• Spruijt NE
• Vorstman J
• Kon M
• Mink van der Molen AB

• KMID: 2267646
• DOI: http://doi.org/10.5999/aps.2014.41.5.472

Abstract

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.

Keyword

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

MeSH Terms

Adolescent*
Cleft Palate
Cohort Studies*
Demography
DiGeorge Syndrome*
Humans
Intelligence
Language Therapy
Speech Therapy
Young Adult*
Surveys and Questionnaires