A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome

Journal of Communication Disorders 36 (2003) 13±47

A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome Christina Perssona,*, Anette Lohmandera, Radi JoÈnssonb, Â skarsdoÂttirc, Ewa SoÈderpalma SoÂlveig O a

Department of Logopedics and Phoniatrics, The Sahlgrenska Academy at GoÈteborg University, SE-405 30 GoÈteborg, Sweden b Department of Audiology, The Sahlgrenska Academy at GoÈteborg University, GoÈteborg, Sweden c The Queen Silvia Children's Hospital, GoÈteborg, Sweden Received 1 February 2002; received in revised form 23 September 2002; accepted 18 October 2002

Abstract 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 con®rmed 22q11.2 deletion, in order to ascertain the frequency and severity of articulation dif®culties, 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 dif®culties; (2) velopharyngeal impairment; and (3) the level of intelligibility in patients with a 22q11.2 deletion. # 2002 Elsevier Science Inc. All rights reserved. Keywords: 22q11.2 Deletion; Articulation; Velopharyngeal function; Intelligibility; Speech

*

Corresponding author. Tel.: ‡46-31-773-68-83; fax: ‡46-31-82-34-15. E-mail address: [email protected] (C. Persson).

0021-9924/02/$ ± see front matter # 2002 Elsevier Science Inc. All rights reserved. PII: S 0 0 2 1 - 9 9 2 4 ( 0 2 ) 0 0 1 3 3 - 8

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1. Introduction The 22q11 deletion syndrome (also called the velo-cardio-facial syndrome, DiGeorge anomaly, conotruncal anomaly face syndrome, SeÂdlaÂckova syndrome, Shprintzen syndrome and CATCH 22) is a syndrome with an estimated incidence of one in 4000 live newborns (Devriendt, Fryns, & Mortier, 1998; Wilson et al., 1994). The inheritance is autosomal dominant (Devriendt et al., 1998; Shprintzen, Goldberg, Young, & Wolford, 1981) but in most patients, approximately 85%, the deletion occurs de novo (Swillen et al., 1998). There are no gender differences reported. An extensive and variable phenotype is associated with the 22q11.2 deletion (McDonald-McGinn et al., 1997). Some of the most common features are characteristic faces (McDonald-McGinn et al., 1997; Shprintzen et al., 1981), cardiac anomalies (Goldberg, Motzkin, Marion, Scambler, & Shprintzen, 1993; McDonald-McGinn et al., 1997; Ryan, 1997), immunode®ciency with frequent and/or prolonged infections (Emanuel, McDonald-McGinn, Saitta, & Zackai, 2001), endocrine problems (Emanuel et al., 2001; Ryan, 1997) and feeding dif®culties (Eicher et al., 2000; Rommel et al., 1999). A high prevalence of mostly mild mental retardation has been reported (Gerdes et al., 1999; Moss et al., Â skarsdoÂttir, & Gillberg, 2001; Swillen et al., 1999; Niklasson, Rasmussen, O 1997), with a mean of full-scale IQ around 70 (Moss et al., 1999; Niklasson et al., 2001). A high prevalence of attention-de®cit/hyperactivity disorder (ADHD) and autism spectrum problems has been detected (Niklasson et al., 2001). Psychiatric illness (Goldberg et al., 1993; Shprintzen, Goldberg, Golding-Kushner, & Marion, 1992), schizophrenia (Bassett et al., 1998; Murphy, Jones, & Owen, 1999), and a high prevalence of bipolar disorders (Papolos et al., 1996) have also been described. Several authors have also found a high frequency of language impairment and delayed language onset (Carneol, Marks, & Weik, 1999; Eliez et al., 2000; Gerdes et al., 1999; Golding-Kushner, Weller, & Shprintzen, 1985; Haapanen & Somer, 1993; Nayak & Sell, 1998; Rommel et al., 1999; Solot et al., 2000). A common ®nding is an overt, submucous or occult submucous cleft of the secondary palate. Cleft palate (CP) has been reported to be present in 51±100% of patients with 22q11 deletion syndrome (Goldberg et al., 1993; Haapanen & Somer, 1993; Lipson et al., 1991; Nayak & Sell, 1998; Shprintzen et al., 1981; Solot et al., 2000). The high frequency in the early reports might be due to ascertainment bias, since reports came from cleft palate centers. Cleft lip  palate has been reported in few cases. Velopharyngeal impairment (VPI) has been found regardless of the existence of a cleft. Velopharyngeal impairment could be related to a cleft, but may also be caused by pharyngeal hypotonia (Shprintzen et al., 1978, 1981), wide pharynx (Shprintzen, 1982), and platybasia, i.e., ¯attening of the skull base, resulting in a deep pharynx (Arvystas & Shprintzen, 1984). This combination of clefts in the

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secondary palate and increased pharyngeal dimensions has been suggested as a possible cause of VPI in this syndrome (Arvystas & Shprintzen, 1984). Hypernasal resonance was present in all patients in the earliest studies (Golding-Kushner et al., 1985; Shprintzen et al., 1978). Later studies have shown a lower frequency of hypernasality: 78% (Haapanen & Somer, 1993), 84% (Nayak & Sell, 1998), 64% (Rommel et al., 1999). It should be noted that some studies have cleft palate or speech disorders as inclusionary criteria (Haapanen & Somer, 1993; Rommel et al., 1999; SedlaÂckovaÂ, 1967). In all other studies, it is not clear whether the patients were selected by speech disorder or by a con®rmed 22q11.2 deletion. Compensatory articulation can be de®ned as ``the speaker's attempt to valve the articulators where the most success can be obtained. This place occurs below the level of defect'' (Trost, 1981). Compensatory articulation has been reported to be present in 26±56% of the patients (Haapanen & Somer, 1993; Rommel et al., 1999). The most common compensatory articulation, substitutions of glottal stops for orally produced stops is often detrimental to the intelligibility and the naturalness of the speech. Glottal articulation was present in 40% of patients reported by Nayak and Sell (1998), but in only 10% in the retrospective study by Rommel et al. (1999). D'Antonio, Scherer, Miller, Kalb¯eisch, and Bartley (2001) calculated ``percentage of glottals'' on the total speech sample from children with 22q11.2 deletion and found a mean frequency of occurrence of glottal consonants of 27.8% for younger children (age 3±7) and 19.5% for older children (age 7±11). It has been suggested that adenoid size speci®cally in¯uences the development of glottal stop substitutions (Havkin, Tatum, & Shprintzen, 2000), whereas the combination of palatal anomalies, platybasia, and hypotonia is not suf®cient to cause compensatory articulation. Intelligibility of the speaker, that is, ``the degree to which the speaker's intended message is recovered by the listener'' (Kent, Weismer, Kent, & Rosenbek, 1989), is an important variable but dif®cult to assess. There are few studies of intelligibility in children with a 22q11.2 deletion syndrome. Rommel et al. (1999) found that only 34% of their study group could be well understood during early childhood by parents and environment. However, the age of the children was not given. Solot et al. (2000) found an equal distribution of mildly, moderately, and severely reduced intelligibility among 31 children older than 5 years of age. To understand the full spectrum of the patients' speech and language dif®culties, it is important to have assessments of a non-selected cohort of a consecutive series of patients with a con®rmed 22q11.2 deletion. There is, however, a lack of this type of report with a thorough, blinded evaluation of speech, irrespective of the presence of a history of speech and language disorders. The purpose of this study was to assess an unselected consecutive series of participants with con®rmed 22q11 deletion syndrome in order to investigate the frequency and severity of articulation dif®culties, velopharyngeal impairment, and level of intelligibility.

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2. Method 2.1. Participants A non-selected consecutive series of 65 participants between age 3 and 33 years (six adults), with a median age of 9 years and 4 months was investigated. The participants included 38 females and 27 males. All of them had a 22q11.2 deletion veri®ed by a FISH-test (¯uorescence in situ hybridization) and all participated in a comprehensive multidisciplinary study of the 22q11 deletion syndrome, which covered various aspects of the syndrome (Oskarsdottir et al., 1999). The participants were referred from all over Sweden, 18 from cardiology units, 16 from speech pathologists or cleft palate centers, 16 from pediatric neurologists or child psychiatrists, 4 from general pediatricians, 3 from immunologists and 1 each from neonathologist, geneticist, audiologist and endocrinologist. Finally four were referred after a relative has been diagnosed. The speech and language assessment was performed for all participants regardless of whether or not they had a history of speech and language dif®culties. Information about cleft anomalies and earlier primary or secondary surgical procedures on the palate, and any results from nasendoscopy and/or video¯uoroscopy, were collected. 2.1.1. Anomalies in the palate One child had a unilateral cleft lip, and one had a unilateral cleft lip and palate. Clefts in the secondary palate were more common: 6 had an overt cleft, 15 had a submucous cleft palate, and 9 had a suspected occult submucous cleft palate (the anomaly was described in the record in terms consistent with an occult submucous cleft palate). This means it is highly likely that 32 out of 65 patients (49%) had an anomaly in the palate. At the time of the examination, 21 of 65 patients (32%) had a velopharyngeal ¯ap. Another 4 patients were waiting for surgery, and 12 were determined to have an immediate need for surgery. This means that 36 out of 65 patients (55%) had, were waiting for, or were judged to be in immediate need of surgery because of velopharyngeal impairment. 2.1.2. Hearing Sixty-three of the 65 patients were examined by microscopic otoscopy; status of the external ear, ear canal, tympanic membrane and middle ear was determined. Psychoacoustic testing and impedance audiometry (tympanometry) were performed on the same day. One child was tested by visual reinforcement audiometry, 2 by play audiometry, and 60 subjects by pure-tone audiometry. ISO 389 and 8253-1 standards were employed. The type of hearing impairment was de®ned according to hearing thresholds, tympanometry ®ndings and the clinical investigation. Hearing loss was de®ned according to clinical de®nitions; pure-tone average (0.5±4 kHz) >20 dB, air-bone gap, isolated dips.

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The otological and audiological investigations were performed within 1 month of the speech investigation for 49 of the patients. For the other 14 patients, the median difference in time between the speech and the otological/audiological investigation was 5.5 months (range 2±24 months). Twenty-eight of the 63 (44%) patients had permanent hearing loss (20 bilateral, 8 unilateral)Ðpredominantly isolated high-frequency hearing loss. This group also included subjects with congenital external and middle ear anomalies. Ten of these 63 (16%; six bilateral, four unilateral) had a temporary hearing impairment, in most cases due to middle ear effusion (Appendix B). 2.2. Materials and procedures Since there was a great variety of ages in the group, it was decided that different tests appropriate for each age group must be used (Table 1). Each participant is also presented in Appendix B. 2.2.1. Recordings All patients were audiotape-recorded. The recordings were conducted in a therapy room at the clinic with a Sony Walkman TCD-D8 portable digital audiotape-recorder, and an AKG acoustics C 407/B condenser microphone. All speech samples were randomized on a tape using a digital tape recorder (Sony TCD-D8) and blindly assessed, except for the assessments using the Nasometer. 2.2.1.1. Perceptual assessment of articulation and velopharyngeal function. This was carried out with participants between 5 and 33 years of age (Table 1). In total, 59 participants belonged to this age group, of whom 2 were non-speaking, and 3 were excluded due to bad quality of the tape recordings. This means that Table 1 Number of patients with a 22q11 deletion syndrome in each age group included and excluded from different parts of the investigation Assessment Test of articulation Perceptual assessment of articulation and VPI Nasometer Intelligibility rating SWINT a

Age

Included

Excluded

Total number of patients in the age group

3±8 5±33

23 54

7a 5b

30 59

5±33 5±10 10±33

42 23 23

17c 5d 8e

59 28 31

Reason for exclusion: two non-speaking, five did not participate. Reason for exclusion: two non-speaking, three bad technical quality on the audiotape-recording. c Reason for exclusion: equipment not available. d Reason for exclusion: one non-speaking, four did not participate. e Reason for exclusion: three inability to read, one other native language, four did not participate. b

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articulation and velopharyngeal function of 54 participants were perceptually assessed. The assessment was based on repetition of standardized sentences with only oral sounds, sentences with several nasal consonants, and sentences with only nasal consonants. Single words with nasal consonants/plosives and syllable chains with pressure consonants with all places of articulation were also repeated (Table 2). All repetitions were made once and always in imitation of the speech and language pathologist. The speech samples were always presented in the same order and were judged independently by two of the authors, both speech pathologists well experienced in analyzing cleft palate speech (CP and AL), who were allowed to listen to each speech sample an unlimited number of times. Eight speech variables in each sample were rated on a five-point scale. After each speech sample, the results were compared and the disagreements were discussed until consensus was reached. The variables and the rating scales are presented in Table 3. In order to test the inter- and intra-judge reliability, 20% of the speech samples were selected at random and rejudged by the two judges. Inter-judge reliability for the perceptual assessment calculated with weighted kappa statistics (Altman, 1991) varied between 0.71 (glottal articulation) and 0.46 (hypernasality), with a Table 2 Speech material for the perceptual assessment [pIpIs ":pa] [tIta po: te:ve:] [kIkIs ka:kUr] [ku:ka eg] [eE k]p kaf3] [e:mIl e: Int3 snel] [su:l3n ly:s3r] [Id": e: de: tIsda] [kIkI ku:kar pUt":tIs] [sIsI sYklar fUt] [hemta Int3 mina vantar] [aEkan sIma rynt i vatn3t]

Pippis apa Titta paÊ TV Kickis kakor Koka aÈgg En kopp kaffe Emil aÈr inte snaÈll Solen lyser Idag aÈr det tisdag Kicki kokar potatis Sissi cyklar fort HaÈmta inte mina vantar Ankan simmar runt i vattnet

[knm:t tend3r lampan] [m]Ea mamvr amar] [mIn3 man3 m]n3] [lampa] [lImpa] [vant3] [vInt3r] [aEka] [vIEka] [pIpIpI] [tItItI] [sIsIsI] [kIkIkI] [kakaka]

Knut taÈnder lampan MaÊnga mammor ammar Minne, manne, maÊnne

Pippi's monkey Watch TV Kicki's cookies Boil eggs A cup of coffee Emil is not nice The sun is shining Today it is Tuesday Kicki boils potatoes Sissi is biking fast Don't fetch my gloves The duck is swimming around in the water Knut switches on the light Many mothers nurse

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Table 3 Speech variables and rating scales for the perceptual speech analysis 1. Velopharyngeal impairment (perceptual global assessment) (0) ˆ Sufficient (1) ˆ Mild impairment (2) ˆ Moderate impairment (3) ˆ Moderate to severe impairment (4) ˆ Severe impairment 2. Hypernasality 3. Weak pressure consonants (0) ˆ Normal resonance/pressure (1) ˆ Mildly hypernasal/reduced pressure (2) ˆ Moderately hypernasal/reduced pressure (3) ˆ Moderately to severely hypernasal/reduced pressure (4) ˆ Severely hypernasal/reduced pressure 4. Audible nasal airflow (0) ˆ Not audible (1) ˆ Occurs once or twice (2) ˆ Occurs often (3) ˆ Occurs very often but not all the time (4) ˆ Occurs all the time 5. Glottal articulation (0) ˆ Not present (1) ˆ Occurs once or twice (2) ˆ Occurs often (3) ˆ Once or twice correct articulation (4) ˆ Occurs all the time 6. Intelligibility (0) ˆ Always intelligible (1) ˆ Mostly intelligible but not all the time (2) ˆ Sometimes intelligible (3) ˆ Mostly unintelligible but not all the time (4) ˆ Always unintelligible

median of 0.65 and point by point agreement which varied between an exact agreement of 36% (91% within one scale value) on audible nasal air¯ow and 82% (100%) on weak pressure consonants, with a median of 64% (100%) on velopharyngeal impairment. To test for consistency of judgement, 11 recordings were reanalyzed and intra-judge reliability was calculated with weighted kappa statistics and as point by point agreement. The kappa statistics for judge one varied between 0.58 (audible nasal air¯ow) and 0.89 (velopharyngeal impairment), with a median of 0.65. The exact point by point agreement for judge one was 68/88 (77%) and within one scale value 86/88 (98%). For judge two, the kappa statistics varied between 0.48 (hypernasality) and 0.94 (weak pressure consonants) with a median of 0.82. The exact point by point agreement for judge two was 73/88 (83%) and within one scale value 87/88 (99%).

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2.2.1.2. Acoustic analysis with the Nasometer. Analysis using this instrument, manufactured by Key Elemetrics (Dalston, Warren, & Dalston, 1991; Fletcher, Mahfuzh, & Hendarmin, 1999; Hardin, Demark, Morris, & Payne, 1992; Seaver, Dalston, Leeper, & Adams, 1991; Vallino-Napoli & Montgomery, 1997), was performed on 42 of the 54 participants in the perceptual assessment. The Nasometer is a microcomputer-based instrument used to measure the relative amount of nasal acoustic energy present during speech production. From the ratio of nasal acoustic energy to nasal plus oral acoustic energy multiplied with 100, a nasalance score is derived. It may be used to quantify clinical judgements of hypernasality. A passage with only oral consonants was analyzed. This passage comprised six Swedish sentences, each repeated twice. The sentences included only oral high pressure consonants. 2.2.1.3. Test of articulation. An articulation test was performed on children between 3:0 and 8:0 years of age (Table 1). Thirty children belonged to this age group. Seven children were excluded, two of whom were non-speakers, and five were not able to participate. Twenty-three children performed the testÐthree were 3:0±3:11, three were 4:0±4:11, five were 5:0±5:11, three were 6:0±6:11, and nine were 7:0±7:11 years of age. The test consisted of 48 single words including all Swedish consonants in different positions, with one target consonant in each word. Thirty-eight percent of the consonants were stops, 29% were fricatives, 17% nasals, 12% liquids, and 4% approximants. Fifteen children repeated the words once after a speech pathologist, while eight were naming pictures (three out of three 3-year-old children, two of three 4-year-olds, two of ®ve 5-year-olds, zero of three 6-yearolds, and one of nine 7-year-olds). The ®rst author phonetically transcribed the target sounds. Twenty percent of the tests were retranscribed by a second speech pathologist. The transcribers disagreed on 38 out of 216 target sounds, i.e., the agreement level was 82%, which is comparable with previously reported reliability measures of transcriptions of disordered speech (D'Antonio et al., 2001; Shriberg, Austin, Lewis, McSweeny, & Wilson, 1997). The transcribers retranscribed 20% of the target sounds some months after the ®rst transcription in order to rate intra-judge reliability. The ®rst speech pathologist agreed with the ®rst transcription on 203 of 216 items, i.e., the agreement level was 94%. The second speech pathologist agreed with the ®rst transcription on 38 of 44 items, i.e., the agreement level was 86%. Percent correct place and manner of consonant articulation was calculated. Correct manner was de®ned as correct identi®cation of stops (voiced/voiceless were separated), fricatives, nasal consonants, liquids or approximants. With this de®nition, a stop consonant could be considered correct even if it was weak and accompanied by audible nasal air¯ow. Not all the children were able to name or repeat all words, which means that percent correct articulation for each child is calculated by dividing the number of consonants with correct place and manner by

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the total number of target consonants produced, and multiplying this ®gure by 100. Median percent of correct place and manner of consonant production for each age group was calculated. An error analysis was performed in three different ways. First, the relative amount of misarticulated consonants in each manner category (stops, fricatives, nasals, liquids, and approximants) was compared with the occurrence in the speech material. Secondly, the misarticulated consonants were identi®ed as oral, non-oral and omitted. In the last analysis, the errors were identi®ed as errors of place, manner or omission. The number of errors for each child was divided by the total amount of errors for the same child and multiplied by 100. 2.2.1.4. Intelligibility in children younger than 10 years of age. Intelligibility was assessed in 23 of the 28 children between 5 and 10 years of age (Table 1). Of the five children not participating in this test, one was non-speaking and the other four did not participate in retelling a story or in a conversation. Twenty out of the 23 children were retelling the Bus Story (Renfrew, 1997). The examiner and the child shared the same picture book and the examiner told the story to the child. Afterwards, the child was asked to retell the story. Three children were audiotaperecorded during conversational spontaneous speech. The speech samples were rated on a five-point scale (Table 3), modified by the first author from GordonBrannan and Hodson (2000). Audiotape-recordings of the speech samples were randomized on a digital tape and assessed by 15 first year speech pathology students. The listener panel was allowed to listen to the speech samples only once. All assessments were made on the same occasion. Twenty percent of the 23 speech samples were selected at random and reassessed in order to rate intra-judge reliability. The intra-judge reliability varied between 17 and 83% with a median of 50%, and within one scale value 50±100% with a median of 100%. When two observers are randomly selected, the absolute value of the difference between their score for a randomly selected subject equals 0, 1, 2, 3, and 4 with the estimated probabilities 0.463, 0.434, 0.096, 0.007, and 0.000, respectively. Thus, perfect coincidence occurred in somewhat less than 50% of all cases, and the difference was less than or equal to one, i.e., with the probability 0.897. 2.2.1.5. The Swedish Intelligibility Test (SWINT) ( Lillvik, Allemark, KarlstroÈm, & Hartelius, 1999). This was performed on 23 of 31 patients between 10:6 and 33:1 years of age, with a median age of 14:1 (Table 1). Three patients were excluded due to inability to read, one had a different mother tongue, and four patients did not participate. SWINT is divided into two sections. The first section is a rhyme test, consisting of 68 randomly selected words representing 22 phonetic contrasts. The second section consists of nonsense sentences that are syntactically correct but semantically impossible, for example ``The yellow ball measured a refrigerator.'' The patients read one word list and one sentence list, which were tape-recorded. Afterwards, the first author was provided with a list of five

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alternatives randomly presented for each target word, and chose the best of the five given alternatives on the word section as a multiple choice task. The same author orthographically transcribed the sentence section. For both sections, a correction list was provided where the correct alternative was given. Twenty percent of the 23 tests were later reassessed by the same author in order to calculate intra-judge reliability. In the word section, exact agreement (i.e., the same word was chosen both in the ®rst and the second assessment) varied between 75 and 97%, with a median of 93%. The intra-judge reliability of the test as a quantitative measure was calculated, i.e., if the same number (but not necessarily the same words) were misperceived. The difference between the ®rst and the second assessment never exceeded 3% units. This means that the total score showed high intra-judge reliability. The exact agreement in the sentence section was lower and varied between 52 and 95%, with a median of 72%. The total score varied between 2 and 12% units between the ®rst and the second assessment. Twenty percent of the recordings were reanalyzed by a second speech pathologist. Inter-judge reliability was measured in three different ways: (1) comparisons of total score, (2) calculating exact agreement (i.e., how many of the words were chosen by both the raters), and (3) shared errors (i.e., how many of the errors were the same for both raters). Even here, the differences in the total score on the word section never exceeded 3% units. The exact agreement varied between 88 and 97%, with a median of 94%. The amount of shared errors varied between 54 and 96%, with a median of 62%. On the sentence section, the differences of total score varied between 0 and 15%, with a median of 2%. The exact agreement varied between 68 and 82%, with a median of 80%, while the shared errors varied between 38 and 98%, with a median of 78%. 2.2.2. Statistics The relationship between each of the speech variables (velopharyngeal impairment, glottal articulation, percent correct consonants, intelligibility (scale rating, SWINTÐword level and SWINT sentence level)), and the hearing variables (permanent hearing loss, temporary hearing loss, pure-tone average) was investigated by multiple regression analysis. All P-values given are twotailed. A correlation analysis between the nasalance data and the perceptual ratings of hypernasality was performed by Spearman's rho. 3. Results The results for the variables velopharyngeal impairment, hypernasality, hyponasality, audible nasal air¯ow, weak pressure consonants, glottal articulation, nasal fricatives and retracted oral articulation, were based on assessments of speech samples from 54 participants 5±33 years of age, repeating words and sentences.

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3.1. Velopharyngeal impairment Twenty-one of the patients (32%) had a velopharyngeal ¯ap at the time of the investigation. Fifty-seven percent (n ˆ 31/54) of the patients were judged to have moderate±severe (scale value 2±4) velopharyngeal impairment (Fig. 1). Another 24% (n ˆ 13/54) were assessed to have mild velopharyngeal impairment. Three of the participants with competent velopharyngeal function already had a velopharyngeal ¯ap. This means that only 13% of the total number of participants were assessed to have a primary competent velopharyngeal function. No differences in velopharyngeal impairment were found between the group with an overt cleft palate or a submucous cleft palate and the group with a suspected occult submucous cleft palate or no known cleft palate. 3.2. Resonance disorders 3.2.1. Hypernasality and nasalance score The scale rating of hypernasality revealed that 33% (18/54) of the participants were assessed to have normal resonance or mild hypernasality (scale value 0±1) while 67% (36/54) had moderate to severe hypernasality (scale value 2±4) (Fig. 2). The nasalance score, an acoustic correlate to the perceptual variable hypernasality, supported this result (r ˆ 0:868, P < 0:05). 3.2.2. Hyponasality Hyponasality was present only to a small degree in few participants. More speci®cally 96% (52/54) had no hyponasality or mild hyponasality, while 4% (2/ 54) had hyponasality to a moderate degree. 3.3. Perceived nasal airflow and consonant weakness 3.3.1. Audible nasal airflow Audible nasal air¯ow was not present at all or present only once or twice (scale value 0±1) in 59% (32/54) of the participants, while it was present often or all the time (scale value 2±4) in 41% (Fig. 3). 3.3.2. Weak pressure consonants No weak pressure consonants or only mildly reduced pressure (scale value 0±1) was present in 67% (36/54) of the participants. Moderately to severely reduced pressure on consonants (scale value 2±4) was present in 33% (18/54) (Fig. 4). 3.4. Articulation errors 3.4.1. Nasal fricative Only 2% (1/54) of the participants had a nasal fricative once or twice.

24 C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 Fig. 1. Bar graph showing the degree of velopharyngeal impairment in 54 patients with the 22q11 deletion syndrome rated along a five-point scale (0 ˆ sufficient; 4 ˆ severe impairment). Light gray colour symbolizes patients who had received a velopharyngeal flap at the time of the investigation and dark gray symbolizes patients without a velopharyngeal flap at the time of the investigation.

C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47

Fig. 2. Bar graph showing the degree of hypernasality in 54 patients rated along a five-point scale (0 ˆ normal; 4 ˆ severely hypernasal). 25

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Fig. 3. Bar graph showing the degree of audible nasal airflow in 54 patients rated along a five-point scale (0 ˆ not audible; 4 ˆ occurs all the time).

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Fig. 4. Bar graph showing the degree of weak pressure consonants in 54 patients rated along a five-point scale (0 ˆ is normal pressure; 4 ˆ severely reduced pressure).

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3.4.2. Retracted oral articulation None of the participants had retracted oral articulation. 3.4.3. Glottal articulation Eighty-nine percent of the participants (48/54) had no glottal substitution, or occurring once or twice (scale value 0±1), while 11% (6/54) had glottal stop substitutions often or all the time (scale value 2±4) (Fig. 5). The articulation test performed on 23 children between 3 and 8 years of age indicated that 11% of the misarticulations were glottal stops or glottal reinforcements. No other types of compensatory articulation were found. 3.4.4. Misarticulated consonants in each manner category An error analysis of the misarticulated consonants in the articulation test showed that 41.5% of the misarticulated consonants were stops, 39.5% fricatives, 10% nasals and 9% liquids (Fig. 6). This means that misarticulation of the pressure consonants (stops and fricatives), and above all fricatives, was disproportionately high in relationship to the overall occurrence of pressure consonants in the speech material. 3.4.5. Misarticulated consonants identified as oral, non-oral, or omitted Eighty percent of the misarticulations were oral, 11% were non-oral, and in 9% the consonant was omitted. All of the non-oral misarticulations consisted of glottal stops, whereas the orally produced errors were most often phonologically based developmental errors. A more detailed phonological process analysis was not performed in this study. An overview of the substitutions revealed, however, that most of the phonologically based errors were due to a reduced fricative system or a fronting process. 3.4.6. Errors identified as errors of place or manner of articulation or omission In Fig. 7, the relative amount of misarticulations in the articulation test due to errors of place, manner and omission is presented for each age group (3, 4, 5, 6, and 7 years). The relative amount of placement errors was 37, 39, 72, 74, and 86%, respectively in the ®ve age groups. The relative amount of manner errors was 50, 33, 27, 13, and 8%, respectively, and the relative amount of omitted consonants was 13, 28, 1, 13, and 6%, respectively. 3.5. Percent correct consonants In the 3-year-old children, 58% of the consonants had correct place and manner (Fig. 8). Corresponding shares of correct place and manner of consonants was 68% in the 4-year-olds, 64% in the 5-year-olds, 88% in the 6-year-olds, and 90% in the 7-year-olds.

C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47

Fig. 5. Bar graph showing the amount of glottal articulation in 54 patients rated along a five-point scale (0 ˆ is not present; 4 ˆ occurs all the time). 29

30 C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 Fig. 6. Percent of test items within each consonant manner compared to percent of the total misarticulations produced in the consonant manner by 23 children between 3 and 8 years of age.

C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 31

Fig. 7. The relative amount of misarticulations in the articulation test due to errors of place, manner and omission, presented for 3-, 4-, 5-, 6-, and 7-year-old children with the 22q11 deletion syndrome.

32 C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 Fig. 8. Percent correct place and manner of consonants in three 3-year-old, three 4-year-old, five 5-year-old, three 6-year-old, and nine 7-year-old children with 22q11 deletion syndrome.

C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 Fig. 9. Bar graph showing the intelligibility rating on a five-point scale (0 ˆ always intelligible; 4 ˆ always unintelligible) in 23 children age 5±9:11 years. 33

34 C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47 Fig. 10. Percent correct words in the word section versus the sentence section on SWINT in 23 patients age 10:6±33:1 years arranged in chronological order.

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35

3.6. Intelligibility 3.6.1. Children younger than 10 years of age The median result of the listeners' judgement of intelligibility for each child (n ˆ 23) on the ®ve-point scale (Table 3) showed that 1 child (4%) was judged to be intelligible all the time (scale value 0), 3 (13%) were mostly intelligible but not all the time (scale value 1), 5 (22%) were intelligible sometimes (scale value 2), 12 (52%) were mostly unintelligible but not all the time (scale value 3), and 2 (9%) were judged to be always unintelligible (scale value 4) (Fig. 9). 3.6.2. Adults and children older than 10 years of ageÐassessment with SWINT In the word section, a mean of 89% of the words were perceived correctly. In the sentence section, a mean of 81% of the words were perceived correctly (Fig. 10). The reference values for normal Swedish teenagers were 99 and 98%, respectively (KaÈll, 1998). 3.7. Speech and hearing The only signi®cant relationships between the speech and hearing variables were those between pure-tone average and glottal articulation (r ˆ 0:31, P ˆ 0:0245) and between pure-tone average and intelligibility (scale rating on children aged 5±10 years) (r ˆ 0:59, P ˆ 0:0045). 4. Discussion 4.1. Consonant inventory The articulation test in this study showed that the children with 22q11 deletion syndrome did not reach a level of about 90% correct place and manner of consonants until age 6. This contrasts with the Swedish norm, whereby most 4-year-old children have a complete sound system (Gahne & NaucleÂr, 1992; Westerlund, 1994). The results of the present study support earlier ®ndings suggesting a developmental progression based on the fact that far fewer children aged 3±7 with 22q11.2 deletion demonstrated age-appropriate consonant production, compared with 7±10-year-olds with 22q11.2 deletion, and also compared with age matched control groups of children with some of the phenotypic characteristics of 22q11 deletion syndrome who do not have the syndrome (D'Antonio et al., 2001). Even if the total amount of misarticulations decreased with age in our study, the relative amount of misarticulations due to placement errors increased with age, while the relative amount of manner errors decreased. These placement errors consisted of a disproportionately large amount of misarticulation of fricatives in relationship to the overall

36

C. Persson et al. / Journal of Communication Disorders 36 (2003) 13±47

occurrence of fricatives in the speech material. The errors were most often phonologically based developmental errors, and more speci®cally, most of the oral placement errors were due to a reduced fricative system or a fronting process. This seems to be in agreement with the fact that a majority of the children have delayed language development (Gerdes et al., 1999; Scherer, D'Antonio, & Kalb¯eisch, 1999; Solot et al., 2000). Another factor that might have contributed to the disproportionately large amount of misarticulation of fricatives is a high occurrence rate of hearing impairment in the 22q11.2 deletion group, with a typical pattern of high-frequency hearing loss (JoÈnsson, Â skarsdoÂttir, & Hanner, 2000). A possibility that can not be ruled out is that O the results on the articulation test might have been affected by the fact that more children under 5 named pictures, while more children over age 6 repeated the words. 4.2. Compensatory articulation In the present study, we found a lower prevalence of glottal articulation than expected. Only 11% of the misarticulations in single words were produced nonorally, all of them as glottal stops or glottal reinforcements. The same result was found in the perceptual analysis of syllable chains, words and sentences. Only glottal substitutions for oral stops were rated in the perceptual scale rating of words and sentences. An explanation of the low prevalence of glottal articulation compared to the results of earlier studies (Havkin et al., 2000; Nayak & Sell, 1998; Shprintzen & Goldberg, 1995) might be that some of our patients in the perceptual rating had glottal reinforcements. Another cause might be differences in methodology when assessing compensatory articulation, for example if the assessment was based on repeated words, sentences or spontaneous speech, and if the assessment was based on phonetic transcription, scale-ratings from tape recordings or live. Our clinical impression is that some patients were able to repeat a word and a sentence with correct articulation, while they had more glottal substitutions in spontaneous speech. The results from the articulation test are based on transcription of consonants in words. The same methodology was used by D'Antonio et al. (2001), with the difference that they also included sentences and spontaneous speech. This difference in methodology might cause the difference in prevalence of glottal stops (11%, age 3±8 years in the present study, 27.8%, age 3±7 years in the study by D'Antonio et al.). However, our study supports their ®nding that the predominant compensatory articulation error type used by children with a 22q11.2 deletion is a glottal stop. 4.3. Velopharyngeal impairment Even if participants in this study were not referred because of speech and language problems, we found that 87% had primary velopharyngeal impairment

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37

to some degree. This study therefore con®rms earlier studies that have found impaired velopharyngeal function to be one of the major features in this group of patients (Burn et al., 1993; Havkin et al., 2000; Nayak & Sell, 1998; Rommel et al., 1999; Shprintzen et al., 1978; Solot et al., 2000). One way of studying the severity of velopharyngeal impairment in patients with a 22q11.2 deletion is to investigate the frequency of velopharyngeal ¯ap surgery. We found that 55% (36/65) had, were waiting for, or were judged to be in immediate need of, velopharyngeal surgery. Another way is to consider the perceptual global assessment of the velopharyngeal function, which showed that 57% (n ˆ 31/54) of our patients had moderate to severe velopharyngeal impairment. It should then be remembered that 39% (n ˆ 21/54) of these patients already had a velopharyngeal ¯ap at the time of the assessment. So, the occurrence of velopharyngeal impairment was both frequent and had a high degree of severity. The perceptual assessment of velopharyngeal impairment in the 21 patients with a velopharyngeal ¯ap should not be used as a ®nal evaluation of the surgery. Some of the patients had had their velopharyngeal ¯ap surgery recently, in one case as recently as 1 month before the assessment, while others had their ¯aps several years before. Only eight of the patients with a pharyngeal ¯ap (n ˆ 21) were judged to have normal or almost normal velopharyngeal function. Since some of them were operated on just before this investigation, this ®gure may improve later on. In any case, this is not a satisfying result. In earlier studies, it has been reported that 19 out of 24 patients had an excellent or good outcome at least 6 months after pharyngoplasty (Lipson et al., 1991) and that 5 out of 15 patients achieved normal resonance and articulation postoperatively, which was considered to be poorer than for cleft palate patients (Haapanen & Somer, 1993). In a third study, it was found that 11 out of 14 (79%) patients with con®rmed velocardio-facial syndrome demonstrated successful surgical result after a sphincter pharyngoplasty, while 3 out of 7 (43%) achieved a successful result after pharyngeal ¯ap surgery (Witt, Miller, Marsh, & Grames, 1997). The patients were not randomized to surgical method. It is dif®cult to compare the results from the studies since the evaluations have been made with different methods, and the surgeries consisted of different methods. However, our clinical impression is that many of the children's speech had improved after surgery even if speech was not normalized. 4.4. Hypernasality We found a high prevalence (67%) of moderate to severe (scale value 2±4) perceived hypernasality. This result was con®rmed by the instrumental analysis, which increases the validity of this variable. The prevalence rate of hypernasality in this study is in agreement with ®ndings in earlier studies with a prevalence ranging from 64 to 84% (Nayak & Sell, 1998; Rommel et al., 1999; The Velo-Cardio-Facial Syndrome Educational Foundation, 2001). Differences

38

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between the reported ®gures might be due to methods of data collection, evaluation and ascertainment bias since they are conducted on patients referred to a cleft palate±craniofacial team because of their speech problems. According to all studies, however, hypernasality is a common feature among the 22q11 deletion syndrome population. 4.5. Intelligibility The International Classi®cation of Functioning, Disability and Health (ICF) is a framework from the World Health Organization for description of the domains (1) body functions and structures and (2) activities and participation (World Health Organization, 2002). Impairments are de®ned as problems in body function or structure. All the variables in this study relating to articulation and velopharyngeal function are by de®nition impairments of body functions or structures. The other domain includes activity, de®ned as an execution of a task or action by an individual, and participation, an involvement in a life situation. Activity limitations are dif®culties an individual may have in executing activities, and participation restrictions are problems an individual may experience in involvement in life situations. On this level, we have assessed intelligibility, which is another way of assessing speech/language dif®culties. There was extensive reduction of intelligibility in our group of participants. Only 17% (4/23) of the children aged 5±10 years were judged to be intelligible all or most of the time. Even in the group of patients from age 10 years and upward to adults, the intelligibility level was lower than expected from the reference value. Several of the adolescents and adults had normal intelligibility, while others had extensive problems with reduced intelligibility. Earlier studies have also found profound disturbances of intelligibility (Rommel et al., 1999; Solot et al., 2000). However, measuring intelligibility is a great challenge since it depends on variables involving three factors: the speaker, the transmission system and the listener (Petersen, 1997). In a review of intelligibility assessment procedures for children, Kent, Miolo, and Bloedel (1994) identi®ed ®ve major categories of assessment procedures: (a) procedures that emphasize phonetic contrast analysis, (b) procedures that emphasize phonological process analysis, (c) procedures that emphasize word identi®cation, (d) procedures that derive phonetic indices from continuous speech, and (e) procedures that rely on a scaling method. Since no intelligibility test for children has been developed in Swedish, few possibilities remain to assess this variable. One possibility is to calculate a percentage of words correctly identi®ed by the listener from a continuous-speech sample. The disadvantage of this method is that the intended word is unknown and can be dif®cult to identify. Another option is to determine the percentage of consonants correct (PCC) (Shriberg & Kwiatkowski, 1982). This is calculated as the total number of

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39

consonant sounds judged correctly in a sample, divided by the total number of intended consonants in a sample of continuous speech (PCC). This test is not only used as an index of intelligibility, and even with this procedure the disadvantage is that it may be dif®cult to understand the speech sample well enough to calculate a useful PCC in severely unintelligible children (Kent et al., 1994). A third option is a rating procedure. However, rating scale procedures have been criticized for their lack of validity (Schiavetti, 1992). On the other hand, this method is useful when the targets are unknown. Gordon-Brannan and Hodson (2000) studied the correlation between the continuous-speech intelligibility percentage measure (a 100-word continuous-speech sample for each child was orthographically transcribed and a percentage of words correctly identi®ed was calculated) and four other measurement methods of intelligibility. They found the highest relationship between the continuous-speech intelligibility percentage and listener ratings. In the present study, a large number of the patients had severely reduced intelligibility that might have made it dif®cult to identify the intended words. We therefore chose the rating scale procedure for the younger children. For adolescents and adults, the computerized intelligibility assessment SWINT, originally constructed for dysarthric patients, was used (Lillvik et al., 1999). As mentioned before, this is a word identi®cation test with two sections: a word section and a sentence section. The word section is an easier task for both the speaker and the listener. An earlier investigation revealed that intelligibility assessment using this test provides a valid, reliable and reproducible quantitative assessment of intelligibility in a dysarthric population (Lillvik et al., 1999). It is also pointed out that it is usable for other categories of patients. The disadvantage of the test is that the patient has to read the word and the sentence lists. Reading dif®culties could therefore in¯uence the result for intelligibility. The result may also be in¯uenced if some words are unknown to the patient. It is reasonable to believe that some of the results in this study were in¯uenced by these factors. For the younger children, we found that hearing level measured as pure-tone average had a statistically signi®cant impact on intelligibility. Even here, it is reasonable to believe that children with hearing dif®culties have more problems with speech and language, resulting in a lower level of intelligibility. However, this result must be interpreted with some caution. 4.6. Clinical considerations The high occurrence rate of velopharyngeal impairment in children with 22q11 deletion syndrome indicates the need for early evaluation of the palate and the velopharyngeal function by a cleft palate team. It is, however, not possible to evaluate the velopharyngeal function until the expressive language has developed to a degree where the child uses sentences and has an adequate consonant system.

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An extensive language delay has earlier been described in children with 22q11.2 deletion (Gerdes et al., 1999; Scherer et al., 1999; Solot et al., 2000). In this study, we have also found a late development of the consonant inventory. This means focus should be on language and communication skills in the group of younger children. 4.7. Limitations of the study A limitation of the present study is that no visualizing method, e.g., nasopharyngoscopy or video¯uorscopy, was used to investigate the palatal structures and velopharyngeal function. This means that the prevalence of submucous and occult submucous clefts might have been underestimated. 4.8. Future research Several important issues that need further investigation arise from this study. The fact that so many participants in the study, especially children but also adults, have reduced intelligibility, raises the question of how the possibility to participate in different communication situations is affected. A thorough investigation of speech, language and communication abilities in adolescents and adults is essential in order to try to predict the prognoses for individuals with 22q11.2 deletion. A more detailed investigation of limitations of phonological development is needed to evaluate the impacts on articulation errors. Future research should try to clarify the differences in assessed prevalence of glottal articulation in patients with a 22q11.2 deletion due to the speech sample consisting of single words, sentences or spontaneous speech. The speech outcome after velopharyngeal surgery needs to be further investigated with perceptual, acoustic and visualizing methods. 5. Conclusions 

  

The majority of the unselected group of participants with 22q11 deletion syndrome in this study 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. Glottal articulation assessed in words and sentences was less frequent than expected in comparison 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.

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Acknowledgments This study was supported by the Foundation of Queen Silvia's Jubilee Fund. Thanks to Speech and Language Pathologist Christina Havstam and all the Speech Pathology students for valuable help with the listener ratings. Appendix A. Continuing education 1. All but one of the following syndromes have a 22q11.2 deletion. Which one does not? a. Velo-cardio-facial syndrome b. DiGeorge anomaly c. Conotruncal anomaly face syndrome d. Prader±Willi syndrome e. SeÂdlackova syndrome 2. What proportion of the patients with the 22q11 deletion syndrome had a primary competent velopharyngeal function? a. 13% b. 23% c. 33% d. 43% e. 3% 3. Misarticulations were over-represented among one group of consonants compared to the occurrence in the speech material. Which one? a. Stops b. Fricatives c. Nasals d. Liquids e. Approximants 4. How many of the consonants had correct place and manner in the 6-yearold children? a. 58% b. 64% c. 68% d. 88% e. 100% 5. Which one of the below features was found to be most frequent among children aged 5±10? a. Over cleft palate b. Impaired phonology c. Reduced intelligibility d. Glottal articulation e. Permanent hearing loss

42

Appendix B Cleft VPI Nasalance palate five-p scale

Glottal Percent artic five-p correct scale artic

Intelligibility Perm bil hear loss

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28

No No No No No osm? sm CP No No CLP osm? No osm? sm No No sm CP CP sm osm No osm No sm No sm

ne ne ne ne ne ne 0 0 0 0 2 ne ne 0 0 ne 1 0 0 1 0 0 0 0 ne 0 0 0

ne ne ne ne ne ne 3 3 3 2 3 ne ne 3 3 ne 3 3 ne 2 2 2 2 0 ne 2 1 3

f m f f m f f m f f f f m f m f m m m m m f m f f f m f

3:0 3:1 3:2 3:3 4:5 4:6 4:11 5:0 5:5 5:7 5:8 5:8 6:1 6:3 6:5 6:7 6:11 6:11 7:0 7:2 7:4 7:5 7:6 7:8 7:9 7:9 7:9 7:11

No No No No No No Need No No No Need No Need No No No Need Need No Yes No Waiting Yes Need No No No Yes

No ne ne ne ne ne 4 0 0 1 3 ne ne 2 0 ne 2 3 0 2 2 4 3 2 ne 1 2 4

75.97 9.45 14.45 20.51

27.89 19.13 59.23 58.82 37.08 70.69 44.53 52.5 23.7 67.19

29 58 74 ne 68 72 96 64 85 62 71 ne 62 88 98 ne 80 ne 81 ne 80 92 94 100 ne 89 100 92

Perm unil Temp bil hear loss hear loss

Temp unil Perm ‡ temp hear loss hear loss

18.75 31.25 16.25 11.25 6.25 bil 27.5 ne 8.75 15

8.75

27.5 20 17.5

28.75

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Number Gender Age Phar (years:months) flap

8:0 8:0 8:3 8:5 9:4 9:7 10:3 10:6 11:1 11:5 11:5 11:6 11:7 11:9 11:9 12:0 13:0 13:4 13:5 13:6 14:1 14:1 15:3 15:5 15.9 16:1 16:1 16:3 16:7 16:7 17:1 20:5 22:7 29:4

Yes No Need Yes Waiting Yes Yes No No Yes No Yes No Yes Yes Need Waiting Yes Need Need No Need Need Yes Yes No Yes Need Waiting Yes No Yes Yes Yes

sm sm osm No No CP No No No No No sm No osm? CL osm? sm No No No No sm No No sm No CP No osm sm No No sm No

2 2 2 1 4 4 2 1 0 1 0 0 1 2 2 3 1 1 3 4 0 1 4 3 1 ne 3 3 1 3 2 0 3 2

45.56 46.00 18.2

27.14 23.43 5.71 8.51 11.15 13.37 43.52

25.27 25.25 25.91 55.33 64.28 10.61 31.51 67.07 57.50 18.79 61.56 63.69 55.43

36.84 32.77

0 0 0 0 4 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 ne 2 0 0 2 0 0 3 0

ne 85 83 90 ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne ne

1 3 4 1 4 3 ne 94/83 ne 96/90 94/78 93/92 98/98 ne 96/98 ne 97/100 85/52 72/32 85/70 94/98 91/98 ne 84/50 97/88 ne 91/70 63/38 93/98 91/87 89/82 97/95 89/80 ne

15

26.25

32.5

41.25 18.75 20

38.75

10 20

12.5 17.5

21.25 20

26.25

20

>80 10 25

43.75

10

7.5

21.25

43

f f m m m m f m f f m f f f m f f m m f m f f f f f m m m m m f f f

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29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62

44

Number Gender Age Phar (years:months) flap

Cleft VPI Nasalance palate five-p scale

Glottal Percent artic five-p correct scale artic

Intelligibility Perm bil hear loss

Perm unil Temp bil hear loss hear loss

63 64 65

CP sm No

0 0 0

75/88 91/95 ne

48.75

f f f

31:8 33:1 33:5

Yes Yes No

1 0 1

36.48 19.52 27.50

ne ne ne

27.5 17.5

Temp unil Perm ‡ temp hear loss hear loss

Phar flapÐthe existence of a flap (yes/no) and if the patient is waiting for surgery or is assessed to immediately need a flap. CLPÐcleft lip and palate. CPÐcleft palate, smÐsubmucous cleft palate, osmÐoccult submucous cleft palate, neÐnot examined. VPIÐvelopharyngeal impairment, perceptually assessed on a fivepoint scale. NasalanceÐnasalance value measured on sentences with only orally produced consonants. Glottal articÐglottal substitutions for consonants perceptually assessed on a five-point scale. IntelligibilityÐon children younger than 10 years assessed on a five-point scale, on older subjects assessed with SWINT word level/sentence level, % correct artiÐpercent correct place and manner of consonants in the articulation test (48 target sounds). Perm bil hear lossÐpermanent bilateral hearing loss. Perm unil hear lossÐpermanent unilateral hearing loss. Temp bil hear lossÐtemporary bilateral hearing loss. Temp unil hear lossÐtemporary unilateral hearing loss. Perm ‡ temp hear lossÐpermanent and temporary hearing loss. In those with bilateral hearing loss, the best ear's hearing level is shown, while in those with unilateral loss the worse ear pure-tone average is shown.

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Appendix B. (Continued )

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45

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