A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome.
The purpose of this study was to investigate a consecutive series of 65 participants between 3 and 33 years of age (median age of 9 years and 4 months) with a confirmed 22q11.2 deletion, in order to ascertain the frequency and severity of articulation difficulties, velopharyngeal impairment (VPI), and the level of intelligibility. The majority had velopharyngeal impairment; over half of them to such a degree that surgery had been performed or was considered necessary. A high level of correct place and manner of consonants was only found in children with the 22q11 deletion syndrome from age 6. The most misarticulated consonants were stops and fricatives. Glottal articulation assessed in words and sentences was less frequent than expected according to earlier studies. A high prevalence of reduced intelligibility at different ages indicates an obvious communication limitation in younger children, and for some individuals even as teenagers and adults.


OBJECTIVE
As a result of this activity, the participant will have knowledge about the frequency and severity of: (1) articulation difficulties; (2) velopharyngeal impairment; and (3) the level of intelligibility in patients with a 22q11.2 deletion.
Persson
Christina
C
Department of Logopedics and Phoniatrics, The Sahlgrenska Academy at Göteborg University, SE-405 30 Göteborg, Sweden. christina.persson@logopedi.gu.se
Lohmander
Anette
A
Jönsson
Radi
R
Oskarsdóttir
Sólveig
S
Söderpalm
Ewa
E
D000293:Adolescent; D000328:Adult; D001184:Articulation Disorders / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003430:Cross-Sectional Studies; D017353:Gene Deletion; D006801:Humans; D010160:Palate, Soft / Q000002:abnormalities; D010614:Pharynx / Q000002:abnormalities; D011446:Prospective Studies; D012720:Severity of Illness Index; D013062:Speech Articulation Tests; D013065:Speech Intelligibility; D013577:Syndrome