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      • SCOPUSKCI등재

        Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

        Spruijt, Nicole E.,Kon, Moshe,Molen, Aebele B. Mink Van Der Korean Society of Plastic and Reconstructive Surge 2014 Archives of Plastic Surgery Vol.41 No.4

        Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

      • KCI등재

        Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

        Nicole E Spruijt,Moshe Kon,Aebele B Mink van der Molen 대한성형외과학회 2014 Archives of Plastic Surgery Vol.41 No.4

        Background: An abnormally obtuse cranial base angle, also known as platybasia, is a commonfinding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depthof the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploringthe relationship between cranial base angles and speech resonance. Methods: In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0–13.1years) with 22q11.2DS underwent speech assessments and lateral cephalograms, whichallowed for the measurement of the cranial base angles. Results: One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%)had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on bothvowels and consonants. The mean cranial base angle was 136.5° (standard deviation, 5.3°;range, 122.3–144.8°). The Kruskal-Wallis test showed no significant relationship between theresonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratingswere not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasalresonance had a significantly more obtuse mean cranial base angle (138° vs. 134°, P=0.049)but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions: In this retrospective chart review of patients with 22q11DS, cranial base angleswere not correlated with speech resonance. The clinical significance of platybasia remainsunknown.

      • KCI등재

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

        Nicole E Spruijt,Jacob AS Vorstman,Moshe Kon,Aebele B Mink van der Molen 대한성형외과학회 2014 Archives of Plastic Surgery Vol.41 No.5

        Background: Speech problems are a common clinical feature of the 22q11.2 deletionsyndrome. The objectives of this study were to inventory the speech history and current selfreportedspeech rating of adolescents and young adults, and examine the possible variablesinfluencing the current speech ratings, including cleft palate, surgery, speech and languagetherapy, intelligence quotient, and age at assessment. Methods: In this cross-sectional cohort study, 50 adolescents and young adults with the22q11.2 deletion syndrome (ages, 12–26 years, 67% female) filled out questionnaires. Aneuropsychologist administered an age-appropriate intelligence quotient test. The demographics,histories, and intelligence of patients with normal speech (speech rating=1) werecompared 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%) underwenta pharyngoplasty, and all (100%) had speech and language therapy. Poorer speech ratingswere 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 speechratings. The groups with normal and different speech were not significantly different withrespect to the demographic variables; a history of cleft palate, surgery, or speech and languagetherapy; and the intelligence quotient. Conclusions: All adolescents and young adults with the 22q11.2 deletion syndrome hadundergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech andlanguage therapy for more years.

      • SCOPUSKCI등재

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

        Spruijt, Nicole E.,Vorstman, Jacob A.S.,Kon, Moshe,Molen, Aebele B. Mink Van Der Korean Society of Plastic and Reconstructive Surge 2014 Archives of Plastic Surgery Vol.41 No.5

        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.

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