Early Speech and Language Development inChildren With Velocardiofacial SyndromeNancy J. Scherer,1* Linda L. D’Antonio,2 and John H. Kalbfleisch3

1Department of Communicative Disorders, East Tennessee State University, Johnson City, Tennessee2Department of Surgery, Loma Linda University School of Medicine, Loma Linda, California3Division of Biometry and Medical Computing, East Tennessee State University, Johnson City, Tennessee

Speech–language impairment is one of themost common clinical features in velocar-diofacial syndrome (VCFS). This report de-scribes the speech and language develop-ment of four children with VCFS studiedlongitudinally from 6 to 30 months of ageand compares their performance with threegroups of children: (1) normally developingchildren, (2) children with cleft lip and pal-ate, and (3) children with isolated cleft pal-ate. The data show that young children withVCFS show a receptive-expressive languageimpairment from the onset of language. Fur-ther, speech and expressive language devel-opment were severely delayed beyond alevel predicted by their other developmen-tal or receptive language performance. Thechildren with VCFS showed severe limita-tions in speech sound inventories and earlyvocabulary development that far exceededthose shown by the children with cleft lipand palate and children with isolated cleftpalate. This study indicates that young chil-dren with VCFS emerge from a criticalspeech and language learning period withsevere limitations in their communicativeabilities. Further studies are required to de-scribe the later course of these early speechand language impairments and to explorethe relationship to learning disabilities de-scribed for older children with VCFS. Am. J.Med. Genet. (Neuropsychiatr. Genet.) 88:714–723, 1999. © 1999 Wiley-Liss, Inc.

KEY WORDS: velocardiofacial syndrome;22q11 deletion; speech–lan-guage impairment; cleftpalate

INTRODUCTION

Velocardiofacial syndrome (VCFS) is a multipleanomaly disorder first described by Shprintzen et al.in 1978. Many clinical features have been described,with the most common findings including cleft palate(overt, submucous, or occult submucous), conotruncalheart anomalies, characteristic facies, and learningdisabilities. Golding-Kushner et al. [1985] provideda description of the language, academic, and psycho-logical profiles of 26 patients with VCFS ranging inage from 3 to 18 years. In their study, speech and lan-guage impairments included reduced understan-ding and reduced use of vocabulary, syntax, andabstract reasoning in communicative situations.Velopharyngeal insufficiency (VPI) was found in allcases. A recent study of 181 children with VCFSshowed an even broader range of communication anddevelopmental impairment [McDonld-McGinn et al.,1997]. Solot et al. [1998], studying a subgroup ofthe same sample, reported both receptive and ex-pressive language impairments with expressive lan-guage being more severely impaired than receptivelanguage. Early speech and language development wascharacterized as delayed in onset with most childrennonverbal at age 2 years. Language impairments con-tinued to be a prominent feature of the developmentalprofile of children in the preschool and school aged pe-riods.

It is accepted clinically that the speech developmentof children with VCFS differs in many ways from nor-mally developing children [Golding-Kushner et al.,1985; Nayak and Sells, 1998; Solot et al., 1998]. Forexample, there is an unusually high occurrence of glot-tal stop substitutions in children with VCFS. (A glottalstop is a sound made by stopping air with the vocalfolds instead of in the oral cavity.) Typically, glottalstops are substituted for the whole class of stop conso-nants (p, b, t, d, k, g) often rendering speech unintelli-gible. There are some similarities to the speech devel-opment of children with cleft lip and/or palate. Theseinclude characteristics such as VPI, use of compensa-tory speech sounds (e.g., glottal stops), early languageimpairment, and some learning disabilities [Broder et

Contract grant sponsor: National Institutes on Deafness andOther Communicative Disorders; Contract grant number:DC02301-01A1.

*Correspondence to: Nancy J. Scherer, Ph.D, CommunicativeDisorders, Box 70,643, East Tennessee State University, JohnsonCity, TN 37614-0643. E-mail: scherern@etsu.edu

Received 1 March 1999; Accepted 10 June 1999

American Journal of Medical Genetics (Neuropsychiatric Genetics) 88:714–723 (1999)

© 1999 Wiley-Liss, Inc.

al., 1998; Richman and Eliason, 1988; Scherer andD’Antonio, 1995]. However, it remains unclear whetherthe speech and language patterns of young childrenwith VCFS are similar in type, prevalence, and sever-ity when compared with children with palatal clefting.

Also, even though speech and language impairmentis nearly universal in children with VCFS, little isknown about the development of these skills betweenbirth and 3 years of age. With the identification of the22q11.2 deletion in patients with VCFS, larger num-bers of individuals are being diagnosed with the syn-drome. Concurrently, there is an emphasis on earlyintervention for children with developmental disabili-ties. It is therefore important to understand the earli-est developmental patterns of children with VCFS.

This paper describes a detailed and comprehensiveassessment of the speech and language development infour children with VCFS from 6 to 30 months of ageand contrasts this development with three comparisongroups—normally developing children, children withcleft lip and palate, and children with isolated cleftpalate.

MATERIALS AND METHODSSubjects

Children with VCFS. Four children with VCFSwere studied. Table I shows the cleft type, gender, ageat palate repair, intervention history, and whether thedeletion was familial or de novo. Two of the childrenhad overt clefts of the palate, one child had a submu-cous cleft with a deep pharynx, and one child did nothave an identified cleft but had a deep pharynx. For thechildren with VCFS, Subjects 1 and 2 were enrolled inspeech and language therapy at 18 and 26 months ofage, respectively. Subjects 3 and 4 speech and languagetherapy between 12 and 20 months of age.

The diagnosis of VCFS was confirmed by fluorescentin situ hybridization (FISH) showing a deletion of22q11.2. Two of the children (Subjects 1 and 2) lived inintact families with their biologic parents. For thesechildren neither parent was deleted. Subjects 3 and 4lived in an extended family with their mothers whowere also affected and with the maternal grandparentswho did not have any of the characteristics of VCFS.

Comparison Groups. Three groups of childrenwere followed with the same protocol as the childrenwith VCFS and the data for the groups are discussedhere for purposes of comparison. These groups included

normally developing children and children with cleftlip and palate. Previous studies have demonstrated arelationship between cleft type and the presence of lan-guage and learning disorders [Jones, 1988; Richmanand Elaison, 1995; Scherer and D’Antonio, 1997].Therefore, for this study two groups of children withclefts were used for comparison purposes; children withcleft lip and palate (CLP) and children with isolatedcleft palate (ICP). The children with CLP were freefrom syndromes as determined by a geneticist. Table IIshows the description of the children in the comparisongroups. Twenty-three children were followed: eighttypically developing children, eight children with CLP,and seven children with ICP.

The children with CLP, ICP, and VCFS werematched to the children in the normal group based onsocioeconomic status and gender. The groups were con-trolled for timing of palate repair. All of the children inthe cleft and VCFS groups were receiving some form ofearly developmental treatment during the study.

Procedures

Evaluations were performed at 6, 12, 18, 24, and 30months of age for all children. The children were evalu-ated in their homes with their mother and caretakerspresent. A single evaluator performed all the develop-mental, language, and speech testing.

Hearing

Hearing screenings and tympanometry were per-formed at each visit by a certified, licensed audiologist.All the children with clefts had pressure equalization

TABLE I. Descriptive Data for the Subjects*

Subject Cleft type Gender

Age atpalaterepair Deletion

Onsetof SL

therapy

1 NC, DP M — de novo 18 m2 CP M 12 m de novo 26 m3 SMCP, DP F — Familial (maternal) 12 m4 CP F 13 m Familial (maternal) 20 m

*CP 4 cleft of the secondary palate; SMCP 4 submucous cleft; NC 4noncleft; SL 4 speech–language; m 4 months of age; DP 4 deep pharynx.

TABLE II. Descriptive Data for the Comparison Subjects*

Subject GenderAge at

palate repair

BSID-2

Mental Motor

Normal1 M NA 97 1082 F NA 106 953 M NA 90 1104 M NA 130 1185 F NA 108 1086 M NA 105 1157 M NA 112 1058 F NA 102 107

CLP1 M 15 M 96 982 M 7 M 112 1013 M 12 M 97 1154 F 18 M 102 1155 M 15 M 112 1086 M 11 M 110 1007 M 10 M 92 968 F 12 M 107 101

ICP1 M 10 M 109 1002 M 12 M 74 803 F 12 M 71 1004 M 12 M 76 845 F 16 M 83 906 F 15 M 60 757 M 12 M 65 60

*CLP 4 cleft lip and palate; ICP 4 isolated cleft palate; NA 4 not appli-cable; M 4 months of age.

Early Speech and Language in Children with VCFS 715

tubes placed at the time of palate surgery. The childwith VCFS without a cleft had tubes placed betweenthe 24 and 30 month evaluations. All the children hadfailed tympanometry and some hearing acuity screen-ings prior to tube placement; however, all passed hear-ing screenings following tube placement.

Developmental Measures. All the children re-ceived the mental and motor scales of the Bayley Scalesof Infant Development-2 (BSID) at 6, 18, and 30months of age. Young children are often given generalmeasures of development to monitor their performancethrough the first 3 years of life. These general mea-sures sample development from many domains (i.e.,visual-motor, receptive language, expressive lan-guage, speech sounds, feeding, social, fine and grossmotor). Only after 3 years of age are these developmen-tal domains assessed separately. Of these domains thatare tested in early development, language milestonesare a prominent feature of development between 18months and 3 years of age. If the goal is to identify achild’s cognitive abilities apart from speech and lan-guage impairment, then the language items should beseparated from the nonlanguage items. Because wesuspect that children with VCFS have language delays,this was the methodology employed in this study. TheBSID provides an item analysis for language, cognitive,social, and motor skills that were used to separate lan-guage and nonlanguage performance.

When interpreting the scores on the motor and men-tal scales of the BSID, scores that fall between 85–115are considered to be in the normal range. Scores from70–85 are considered to be in the borderline range, andscores below 70 are indicative of delays.

General Measures of Language Develop-ment. Receptive and expressive language perfor-mance were measured using the Sequenced Inventoryof Communicative Development-R (SICD) [Hedrick etal., 1984] at all assessments. The SICD is a standard-ized measure of language development for children 4months to 41⁄2 years of age, yielding age equivalentscores. It has known validity and is widely used in re-search on speech and language impairments. Thismeasure assesses receptive and expressive languagedevelopment across multiple language domains includ-ing vocabulary, pragmatics, grammar, and phonology.

Language Sample. General tests of language de-velopment sample a variety of language parametersacross ages, but not in detail. Thus only a global pictureof the child’s language performance can be obtainedfrom the SICD. The second method of language assess-ment examines the child’s use of language in a commu-nicative context called a language sample. This methodprovides a more typical view of the child’s ability to uselanguage routinely. Language sample analysis wasperformed using a 30-min videotape sample of commu-nicative interaction between the child, caregivers, andexaminer. The strength of a language sample analysisis that it assesses language use in a natural conversa-tion rather than a “testing” situation, which requiresthat the child respond to specific items. For young chil-

dren this method is preferred because it reflects thechild’s use of language within typical contexts.

Methodologically, a sample of 30 min was selected togive children sufficient opportunity to use language.This sample length is in concert with established lit-erature in language assessment [Miller, 1981]. Thelanguage sample analysis was performed on thesamples obtained at the 12- through 30-month assess-ments using the Systematic Analysis of LanguageTranscripts [Miller and Chapman, 1996]. In preparingthe language sample for analysis, any vocalization, un-intelligible word attempt, sign, or recognizable wordwas transcribed regardless of pronunciation accuracy.To assure accuracy of the language sample transcripts,a word-by-word, inter- and intrajudge transcription re-liability was calculated for 20% of each transcript. Re-liability ranged from 88 to 94% agreement, indicatinggood agreement. Vocabulary was analyzed using thenumber of different words produced in the languagesamples at 12, 18, 24, and 30 months of age. The num-ber of different vocabulary words used in natural con-versation is a highly sensitive measure of early lan-guage development.

Parent Report of Language Development. Tovalidate the language sample findings, a parent reportof language development was obtained using the Com-municative Development Inventory (CDI) [Fenson etal., 1993] at 12, 18, 24, and 30 months of age. The CDIis a normed parent-report measure that assesses achild’s vocabulary size, length of their three longestsentences, and use of word endings. The validity of theCDI has been determined for typically developing chil-dren, children with delayed speech and language de-velopment, and children having CLP and ICP [Dale,1991; Scherer and D’Antonio, 1995].

Speech Sound Production. In English, conso-nants are the sounds that carry the most informationregarding word meaning. Children who are normallydeveloping acquire sounds in a well-ordered manner.Sound development has been documented by describ-ing stages of babbling that continue into meaningfulword use [Stoel-Gammon, 1989]. Children progressfrom use of vowel’s and consonant-like sounds (for ex-ample, w, y) to use of true consonants (such as p, t, k,m, s, f). The number of sounds children use begins toincrease before words begin (between 6 and 12 monthsof age) but expands rapidly with early word use. By thetime normal developing children are 2 years old theyare using 12 to 14 different consonant sounds in theirspeech [Stoel-Gammon, 1989]. The use of consonantand vowel combinations, referred to as syllable struc-ture, advances in complexity from similar consonantsand vowels (e.g., mama, dada) to varied consonant andvowel patterns (e.g., banky, doggy). This developmen-tal pattern is altered often when there is a structuralabnormality such as clefting. Children with clefts mayuse fewer or different sounds [O’Gara and Logemann,1988].

For this study, speech was assessed by transcribingthe vocalizations and word attempts of the childrenfrom the video-taped language samples that included a

716 Scherer et al.

naming activity with a set of toys controlled for soundfeatures. Sounds were considered present in the child’srepertoire if they occurred at least three times [Stoel-Gammon, 1985]. Each word attempt or vocalizationwas transcribed following the rules developed by Pauland Jennings [1992]. Consonant inventories were de-rived by counting all consonants that met the abovecriteria.

Particular emphasis was placed on the accuratetranscription of compensatory articulation errors, par-ticularly glottal stops. It is possible that word attemptsthat are comprised of a glottal stop and a vowel may beperceived as an isolated vowel production. Specialtraining was given to the transcribers to increase theirsensitivity to the presence of glottal stop substitutions.In instances where an isolated vowel was transcribed,the videotapes were reviewed to check whether a glot-tal stop or other compensatory articulation may havepreceded the vowel.

Percent Consonant Correct-Revised (PCC-R) [Shri-berg et al., 1997] was used as a measure of consonantaccuracy in connected speech at the 30-month evalua-tion. The PCC-R was obtained by dividing the numberof consonants correctly articulated, according to theadult model of production, by the total number of con-sonants in the sample. Only consonant substitutionsand omissions were considered as errors, whereas con-sonant distortions caused by nasal emission or dentaldeviations are ignored in this analysis. This metric ofarticulation competence had been suggested to de-scribe speech accuracy for children having diversespeech status, as expected for the children in thisstudy. Further, the PCC-R provides a rating for sever-ity of speech impairment (normal, mild, moderate, orsevere impairment).

Velopharyngeal Function. One component ofcommunication that is frequently affected in childrenwith palatal clefts or VCFS is velopharyngeal (VP)function. Hypernasality and nasal emission are thecharacteristics most commonly associated with inad-equate VP function. It is difficult to obtain definitivemeasures of VP function during early speech develop-ment; however, preliminary perceptual judgments canbe made from early speech sound production. For pur-poses of this study, perceptual ratings of VP functionwere made from composite ratings of hypernasalityand nasal emission during oral consonant attempts.Ratings were initiated when the child had at leastthree different words and were then made at each suc-cessive evaluation from word attempts on the languagesample. VP symptoms were rated on a 1 to 7 equalappearing interval scale with 1 representing the pres-ence of mild VP symptoms and 7 representing severesymptoms.

Data Analysis

Group values at each time point were summarized bythe mean (Figures) and standard deviation (Table III).Statistical analysis was performed with analysis ofvariance (ANOVA) to assess the four groups, time pe-riods, and the interaction of the group and time factors.Since group main effects and all interaction effects

were significant for each variable (p <0.05), the leastsignificant difference procedure was used to comparegroup means at each time point.

RESULTSDevelopmental Measures

Motor Development. Performance of the childrenwith VCFS is compared with data from the three com-parison groups. The upper panel of Table III shows themean performance and results of statistical compari-sons for the standard scores of the motor subscale ofthe BSID. The individual performance of the childrenwith VCFS showed that three children were in the nor-mal range and one child fell into the delayed range. Theone child who appeared to show delays also had behav-ioral issues (e.g., noncompliance to structured tasks,short attention to activities) that were believed to af-fect testing performance. The motor scores were signifi-cantly lower than the noncleft children (p <0.05) andlower than the children with CLP by 30 months of age(p <0.05). However, scores for the children with VCFSwere not statistically different from the performance ofthe children with ICP at any age.

Mental Development. In the lower panel of TableIII the mean performance and statistical comparisonsof the children with VCFS are shown. When viewing thelanguage and nonlanguage items combined, the scoresof the children with VCFS were statistically lower thanthose of the noncleft children (p <0.05) and childrenwith CLP (p <0.05) but not from those of the childrenwith ICP (p40.37). Inspection of the mental scalescores for the children with VCFS showed what mightbe interpreted as a decline in scores from 18 monthsthrough the 30-month assessment. Because it has beendetermined that the children with VCFS have lan-

TABLE III. Mean Standard Score and Statistical Comparisonof the Children With VCFS, ICP, CLP, and Noncleft Children

on the Motor and Mental Scales of the Bayley Scales ofInfant Development*

Age in months6 18 30

Motor scaleVCFS 91.0 ± 11.3 84.3 ± 18.0 82.5 ± 20.1ICP 78.6 ± 13.0 83.4 ± 17.0 84.2 ± 20.9CLP 98.1 ± 9.1 100.1 ± 14.7 105.9 ± 8.1Normal 106.4 ± 11.7 108.8 ± 7.3 110.0 ± 7.6

VCFS vs. ICP NS NS NSVCFS vs. CLP NS NS p 4 0.01VCFS vs. normal NS p 4 0.01 p 4 0.01

Mental ScaleVCFS 89.2 ± 18.1 80.0 ± 8.5 67.2 ± 13.7ICP 86.0 ± 11.3 77.6 ± 14.1 77.0 ± 20.7CLP 99.6 ± 8.3 99.1 ± 13.5 102.1 ± 8.1Normal 102.5 ± 7.5 106.8 ± 10.3 108.2 ± 11.5

VCFS vs. ICP NS NS NSVCFS vs. CLP NS p 4 0.05 p 4 0.01VCFS vs. normal NS p 4 0.01 p 4 0.01

*VCFS 4 children with velocardiofacial syndrome; ICP 4 children withisolated cleft palate; CLP 4 children with cleft lip and palate; normal 4children without clefts; NS 4 not significant. Summary statistics are mean± standard deviation.

Early Speech and Language in Children with VCFS 717

guage impairments, this finding may reflect the in-creasing contribution of language items in tests duringthis developmental period. Therefore, the languageand nonlanguage items were examined separately. Thelanguage/nonlanguage performance for the childrenwith VCFS at 30 months is presented in Table IV. Thedata indicate that all the children with VCFS showedpoorer performance on the items that required lan-guage than items that did not require language. Of the106 cognitive (nonlanguage) items, the children withVCFS passed 106, 103, 100, and 81 items, respectively,indicating that the full mental scale score is not reflec-tive of nonlanguage cognitive performance.

General Measures of Language Development

The children with VCFS showed receptive-expressivelanguage impairments that were apparent from the on-set of language. Further, the course of this early lan-guage impairment persisted and widened when com-pared with the development of children with CLP andICP. Figure 1 shows the receptive language age scoresobtained for the children with VCFS, ICP, CLP, andchildren without clefts from 6 to 30 months of age.ANOVA and pairwise comparison of group means in-dicated that performance of the children with VCFSwas poorer than the children without clefts from 12–30months (p <0.05). Further, when compared with thechildren with CLP and ICP, the children with VCFSfell behind those groups by 24 months of age (p <0.05).These data indicate that receptive language was im-paired from the onset of language and the delay wid-ened through 30 months of age.

Figure 2 shows the expressive language performancefor the children with VCFS, normally developing chil-dren, and children with CLP and ICP. The performanceof the children with VCFS was statistically differentfrom the children without clefts from 12 months on-ward (p <0.05). By 24 months of age, the children withVCFS were different from the children with CLP (p<0.05) and by 30 months, their performance fell belowthat of the children with ICP (p <0.05).

Language Sample

The number of different words, a measure of vocabu-lary use, is presented in Figure 3. The children withVCFS show severe restrictions in their vocabulary usewhen compared with all three comparison groups. Sta-tistical comparisons revealed that the vocabulary useof the children with VCFS was significantly poorerthan that of the children without clefts (p <0.05) andchildren with CLP by 24 months (p <0.05) and poorer

than that of the children with ICP by 30 months of age(p <0.05).

It should be noted that all word attempts or signswere credited in the coding. This is an important meth-odological feature of this study in that every communi-cative attempt, through any modality, was given creditin the analysis.

Parent Report Measures ofLanguage Development

The language sample provides one view of the child’slanguage use but does not represent the total vocabu-lary that the child may know. A parent report measureof vocabulary size was collected using a standardizedform, the MacArthur Communicative Development In-ventory. Figure 4 shows the number of different wordsindicated by the parent from 12 to 30 months of age.The vocabulary size profile for the children with VCFSwas flat, indicating that vocabulary size was extremely

TABLE IV. Language and Nonlanguage Item Analysis Fromthe Bayley Scales of Infant Development-2 (BSID-2) for the

Children With VCFS

Subject

BSID-2 Number oflanguage

items passed

Number ofcognitive

items passedMental Motor

1 68 80 15/49 103/1062 <50 55 13/49 81/1063 77 83 17/49 106/1064 63 80 15/49 100/106

Fig. 1. The receptive age scores from the Sequenced Inventory of Com-municative Development-R are presented at 6, 12, 18, 24, and 30 months ofage for the noncleft children (diamonds), children with cleft lip and palate(triangles), children with isolated cleft palate (squares), and children withVCFS (circles).

Fig. 2. The expressive age scores from the Sequenced Inventory of Com-municative Development-R are presented at 6, 12, 18, 24, and 30 months ofage for the noncleft children (diamonds), children with cleft lip and palate(triangles), children with isolated cleft palate (squares), and children withVCFS (circles).

718 Scherer et al.

small and did not show the rapid growth pattern ex-pected at this age. Statistical comparison of the profilesshowed that the vocabulary size of the children withVCFS was poorer than the noncleft children, beginningby age 18 months (p <0.05); differed from the childrenwith CLP by 24 months (p <0.05); and differed from thechildren with ICP by 30 months of age (p <0.05). Thesefindings are similar to those obtained from the lan-guage sample. It is important to note the severely re-stricted communicative performance of the childrenwith VCFS. These children were without even the mostfunctional vocabulary during a critical period for vo-cabulary growth.

Speech Sound Production

This study measured the number of consonant typesthat approximated the adult form of the words and anyconsonant vocalization produced by the children. The

number of consonant types used was examined in thelanguage sample and is displayed in Figure 5 andTable V. The children with VCFS showed severely re-stricted consonant inventories when compared withthe three comparison groups. Statistical comparisonsindicated that the number of consonant types used inwords or word attempts by the children with VCFS waslower than that of the noncleft children and childrenwith CLP by 18 months (p <0.05) and differed from thechildren with ICP by 24 months of age (p <0.05). Inaddition to severe limitations in consonant inventory,children with VCFS had significantly lower PCC-R rat-ings (p <0.05) than the children with CLP, ICP andthose in the noncleft group. PCC-R ratings indicatedthat articulation accuracy for the children with VCFSwas severely delayed for their age. Further, the chil-dren with VCFS used glottal stop substitutions moreoften than children in the CLP or ICP groups (p <0.05).

Velopharyngeal Function

Results of the perceptual ratings of VP function arepresented in Table V. None of the children in the nor-mally developing group demonstrated VP symptoms.Approximately 50% of the children in the CLP and ICPgroups demonstrated some mild/moderate VP symp-toms, and all of the children in the VCFS group wereperceived as having some hypernasality and/or nasalemission. Another factor that has been suggested asbeing related to the presence, type, or severity ofspeech errors in children with cleft palate is the age atpalate repair. The results provided in Table V demon-strate there is no apparent relationship between theage at time of palate repair and the number of conso-nant types, PCC-R rating, or percentage of glottal stopsubstitutions for the children in this sample.

The relationship between VP function and the typesand pattern of speech errors was also assessed. Table Vshows the rating of VP symptoms, number of consonanttypes, PCC-R rating, and percentage of glottal stopsubstitutions for subjects in all groups. Inspection of

Fig. 4. The number of different words used from the parent reportmeasure, the MacArthur Communicative Development Inventory, are pre-sented at 6 through 30 months of age for the noncleft children (diamonds),children with cleft lip and palate (triangles), children with isolated cleftpalate (squares), and children with VCFS (circles).

Fig. 5. The number of consonants used as derived from the SystematicAnalysis of Language Transcripts are presented at 6 through 30 months ofage for the noncleft children (diamonds), children with cleft lip and palate(triangles), children with isolated cleft palate (squares), and children withVCFS (circles).

Fig. 3. The number of different words used in the language sample asderived from the Systematic Analysis of Language Transcripts are pre-sented at 6 through 30 months of age for the noncleft children (diamonds),children with cleft lip and palate (triangles), children with isolated cleftpalate (squares), and children with VCFS (circles).

Early Speech and Language in Children with VCFS 719

the data indicates there is no apparent relationshipbetween the presence or severity of VP symptoms andthe number of consonant types or PCC-R rating. On theother hand, there does appear to be a relationship be-tween the presence of VP symptoms and the percent-age of glottal stop consonants used. That is, the chil-dren with CLP and ICP with no VP symptoms had alower frequency of glottal stop articulation than thechildren with mild or moderate VP symptoms. How-ever, among the children who did demonstrate VPsymptoms, the percentage of glottal stop consonantsused did not appear to be related to the severity of VPsymptoms. Furthermore, the VCFS group showed asignificantly higher frequency of glottal stop use thanchildren with CLP (p <0.05) or ICP (p <0.05) regardlessof the severity of VP symptoms.

DISCUSSIONSpeech and Language Characteristics of Young

Children with VCFS

The purpose of this study was to provide a longitu-dinal description of several critical features of earlyspeech and language development for a small sample ofchildren with VCFS from 6 to 30 months of age. Theprofile observed for the children with VCFS was com-pared with patterns of development for typically devel-oping children, children with cleft lip and palate, andchildren with isolated cleft palate. Inspection of thedata reveals a hierarchy of performance, with thenoncleft children performing the best, followed by thechildren with CLP, then children with ICP, with thechildren with VCFS consistently showing poorest per-formance on all measures of speech–language develop-

TABLE V. Age at Palate Repair, Velopharyngeal Symptoms, and Articulation Variablesfor Children in the Four Groups at 30 Months of Age

SubjectAge at

palate repair VP symptomsConsonant

typesPCC-Rrating %Glottals

Normal1 NA None 21 76 02 NA None 16 71 03 NA None 15 68 54 NA None 18 91 05 NA None 15 88 06 NA None 15 72 07 NA None 18 92 08 NA None 15 64 10Mean 16.6 77.7 7.5**

CLP1 15 M None 16 73 42 12 M Moderate 19 46 253 12 M None 15 63 74 15 M Moderate 13 58 125 15 M None 18 70 96 12 M Moderate 10 60 237 12 M None 22 69 08 12 M Mild 16 46 15Mean 16.1 60.6 13.6

ICP1 12 M None 21 71 82 12 M Moderate 7 30 123 12 M Mild 11 50* 124 12 M None 13 57 35 15 M Mild 4 59* 156 15 M Moderate 5 72* 207 12 M Mild 15 67 5Mean 10.8 58 10.7

VCFS1 — Mild–Moderate 3 46* 232 12 M Mild 2 41* 253 — Mild 5 40* 184 13 M Mild 5 47* 15Mean 3.7 43.5 20.3

Comparison of meansNC vs. CLP NS p < 0.05 p < 0.05NC vs. ICP p < 0.05 p < 0.05 p < 0.05NC vs. VCFS p < 0.05 p < 0.05 p < 0.05CLP vs. ICP p < 0.05 NS NSCLP vs. VCFS p < 0.05 p < 0.05 p < 0.05ICP vs. VCFS p < 0.05 p < 0.05 p < 0.05

NA 4 not applicable; M 4 Months of age; * 4 PCC-R calculated on 10 words or fewer; ** 4 mean %glottals calculated for only those subjects who used glottal sounds; NS 4 not significantly different; CLP4 cleft lip and palate; ICP 4 isolated cleft palate; VCFS 4 velocardiofacial syndrome.

720 Scherer et al.

ment. The present study also suggests that the devel-opmental profile of the speech and language impair-ment observed in children with VCFS appears to differfrom that of typically developing children as well as thetwo groups of children with clefts.

The data indicate that the children with VCFS dem-onstrated severe receptive–expressive language im-pairments from the onset of language, and these im-pairments increased in severity from 12 to 30 monthsof age. Furthermore, for the children in this study, bothearly vocabulary and speech sound acquisition wereseverely impaired to the extent that the children wereessentially nonoral through 30 months of age. There isa marked discrepancy between receptive language per-formance and expressive language and speech produc-tion. Also, the expressive impairments were not consis-tent with the performance on the mental scale of BSID.

Comparison With Data FromCross-Sectional Studies

Early reports describing VCFS identified speech–language and learning impairments as prominent fea-tures of the syndrome [Golding-Kushner et al., 1985;Shprintzen et al., 1978]. However, since these first pub-lications, there have been few reports that describe thenature and extent of such impairments. The presentstudy is the first longitudinal assessment of speech andlanguage development in children with VCFS. Addi-tionally, most previous studies have focused on olderchildren, whereas the present study described commu-nication development in children from birth to age 3.Because of the early age of this population and differ-ences in methodology, the data from this study provideimportant information that identifies features thatmay be the precursors to the speech, language, andlearning characteristics described in older childrenwith VCFS.

For example, the cross-sectional studies in the litera-ture are in conflict regarding whether language impair-ments in young children with VCFS improve duringthe preschool years [Solot et al., 1998] or persist intoschool age [Nayak and Sells, 1998]. Solot et al. dis-cussed the presence of a receptive–expressive languagedeficit that appeared to be improving for her group of40 preschool children with VCFS. However, Nayak andSells [1998] found that 89% of their school-aged groupshowed persistent language impairments. Data fromthe present study suggest that deficits in language in-crease in severity from birth to 3 and become distinctfrom typically developing children and children withclefts by 12 to 18 months of age. These data show thatspeech and language impairments in children withVCFS occur earlier than has been reported previously.Also, these impairments become readily identifiablewhen methods are used that are sensitive to the profileof language impairment seen in these children. For ex-ample, data from this study indicate that the most se-vere component of language impairment for young chil-dren with VCFS was evident in language use observedwithin natural communicative contexts. Previous stud-ies of language development have relied on standard-ized tests of language performance. Generally, the se-

verity of impairment seen in the present population isnot readily apparent when general tests of speech–language development are used, as they do not takeinto consideration the child’s ability to use language inreal communicative settings. Therefore, impairmentssuch as those observed in this study and the substan-tial differences from typically developing children maynot have been apparent in previous studies.

Previous reports have speculated regarding the rela-tionship between speech and language and cognitivefunction in children with VCFS. [Golding-Kushner etal., 1985; Swillen et al., 1997; Solot et al., 1998]. How-ever, there is no consensus regarding the nature of thisrelationship. Data from the present study show thatexpressive language impairments were not consistentwith the performance on the mental scale of BSID.While the children showed increasing deficits in ex-pressive language from 6 through 30 months of age,when the language items from the BSID were sepa-rated from the nonlanguage items, performance on thenonlanguage items was always superior to perfor-mance on language items. This finding suggests thatthese children demonstrated language impairmentsthat exceeded cognitive deficits.

If cognitive delay is not solely responsible for theearly speech and language impairments seen in chil-dren with VCFS, then what are the possible hypoth-eses regarding the bases of these early delays? Onepossible explanation may be that these characteristicsare similar to children with other genetic syndromes.Characteristic profiles of developmental and speech–language impairments in children with a number ofsyndromes have been reported, as in Down syndrome[Miller, 1988] or Williams syndrome [Karmiloff-Smithet al., 1997]. However, the characteristics described inthis study for children with VCFS do not match docu-mented developmental profiles for other syndromes.For example, children with Down syndrome or Wil-liams syndrome typically show a more significant cog-nitive impairment than observed in children withVCFS. One explanation may be that at least some chil-dren with VCFS have a unique developmental profileconsisting of mild cognitive deficits, receptive–expressivelanguage impairment, with expressive language andspeech sound production severely delayed. The uniquefeature of this profile is the severity of early expressivelanguage and speech sound production impairmentsrelative to other developmental parameters.

Another characteristic of early speech and languagedevelopment observed in this study was the severity ofthe expressive language and speech impairment in thechildren with VCFS. For the children in this study,both early vocabulary and speech sound acquisitionwere severely impaired to the extent that the childrenwith VCFS were essentially nonoral through 30 monthsof age. Solot et al. [1998] also discussed the disparitybetween expressive and receptive language perfor-mance in their cross-sectional study of preschool chil-dren. Some of the children described in the Solot studywere nonoral. However, the children were observed atonly one point in their development, so it is unclearhow long they remained at that level and what thecourse of development had been prior to and fol-

Early Speech and Language in Children with VCFS 721

lowing that single observation. The present data wouldsuggest that these severe expressive impairments oc-cur from the onset of language and can be identified asearly as 18 months of age.

Another factor that has been identified as a precipi-tating factor in the speech–language patterns observedin children with VCFS is the high occurrence of VPdysfunction. Solot et al. [1998] suggested that palatalfunction was not the sole factor responsible for the pro-file of speech and language performance of the childrenthey observed with VCFS. The present study providesdata concerning the relationship between VP functionand speech production. An important feature of thepresent study is the use of the comparison groups ofchildren with cleft lip and palate and isolated cleft pal-ate. Data from this study clearly demonstrate that thechildren with VCFS not only differed from typicallydeveloping children but they also showed more impair-ments in speech and language development than thetwo comparison groups of children with palatal cleft-ing. Furthermore, the present data do not support asimple causal relationship between the severe speechproduction abnormalities observed for the childrenwith VCFS and the presence of VP dysfunction. TheVCFS group demonstrated significantly greater speechproduction deficits than children in the two cleft groupswho also experienced VP symptoms. The present dataclearly indicate that the relationship between VP func-tion and speech sound errors is not as simple andstraightforward as has been suggested previously.

Directions for Future Research

This study has provided detailed information regard-ing the early communicative characteristics of a smallsample of children with VCFS. The present findingsinterpreted in conjunction with the existing literaturepoint to a distinctive profile of speech and languageimpairment for children with VCFS. However, severalimportant questions remain unanswered. For example,it is not known whether there are subgroups withinthis profile that may account for some of the differencesdescribed in the literature and anecdotally. Also, it isnot clear what proportion of children with VCFS havethese profiles of speech and language impairment orhow they change over time. Golding-Kushner [1985]and McDonald-McGinn et al. [1997] documented thepresence of learning disabilities in a school-aged popu-lation of children with VCFS. In other populations ofchildren, early language impairment has been identi-fied as a precursor to later learning disabilities. There-fore, future investigations should consider whether thelearning disabilities described in children with VCFShave their origins in early language and speech impair-ments.

Another area of controversy that warrants furtherstudy is the course of the early speech production defi-cits. Do they improve with age and/or with treatment?Solot et al. [1998] suggest that all but two of their studygroups were speaking by school age, suggesting thatthe speech production deficits may improve. Also, howdo the early speech production deficits influence laterlanguage and learning deficits observed in these chil-

dren at school age? Do limitations in speech productionreduce the possible options for expressing differentwords, thereby contributing to a delay? Or do earlylanguage impairments limit the need to attempt a va-riety of sounds? What is the relationship between VPdysfunction and the type and severity of speech sounderrors in children with VCFS? If there is not a strongrelationship between VP symptoms and speech errors,what accounts for the high occurrence of compensatoryarticulation patterns, particularly the high percentageof glottal stop substitutions?

Another area that should be addressed is the rela-tionship between the severe early language and speechimpairment and the behavioral or psychosocial prob-lems apparent for many children with VCFS. What arethe relationships between inheritance, environmentalfactors, and speech and language performance? Thesequestions require future longitudinal studies withlarger numbers of subjects. Answers to these questionswould provide valuable information for developmentalmonitoring and early intervention strategies for chil-dren with VCFS.

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