UNLABELLED: 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. EDUCATIONAL OBJECTIVES: 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.
UNLABELLED: 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. EDUCATIONAL OBJECTIVES: 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.
Authors: Jamie L Perry; Katelyn J Kotlarek; Kelly Spoloric; Adriane Baylis; Lakshmi Kollara; Jonathan M Grischkan; Richard Kirschner; David Gregory Bates; Mark Smith; Ursula Findlen Journal: Cleft Palate Craniofac J Date: 2019-08-25
Authors: Estephania Candelo; Maria Alejandra Estrada-Mesa; Adriana Jaramillo; Carlos Humberto Martinez-Cajas; Julio Cesar Osorio; Harry Pachajoa Journal: Appl Clin Genet Date: 2021-06-01
Authors: Anna Wozniak; Danuta Wolnik-Brzozowska; Marzena Wisniewska; Renata Glazar; Anna Materna-Kiryluk; Tomasz Moszura; Magdalena Badura-Stronka; Joanna Skolozdrzy; Maciej R Krawczynski; Joanna Zeyland; Waldemar Bobkowski; Ryszard Slomski; Anna Latos-Bielenska; Aldona Siwinska Journal: BMC Pediatr Date: 2010-12-06 Impact factor: 2.125
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