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Voice Characteristics of Children with Noonan Syndrome

Authors:

Abstract

Objective: Noonan syndrome (NS) is characterized by multiple physical and cardiac anomalies. Voice characteristics in NS are not well characterized in the available literature. The aim of this study was to examine voice properties of patients with NS. Material and Methods: This study included 11 children with NS with a mean age of 11.96±3.47 years (age range: 6.3-17.7). The control group consisted of 11 healthy children with a mean age of 11.96±3.34 years (age range: 6.0-17.1). In all subjects (n=22), 11 parameters out of 33 acoustic parameters of the Multi-Dimensional Voice Program, related to fundamental frequency, frequency variations, amplitude variations, and noise measurements were analyzed. Results: In the acoustic analysis of children with NS, soft phonation index (SPI) was found to be lower than that in the control group (p<0.05). Fundamental frequency of children with NS was higher than that in the control group; but the difference was not statistically significant (p>0.05). Conclusion: This study adds knowledge about the clinical symptoms of children with NS. The findings of this study indicate that children with NS mostly share similar voice properties with healthy children.
Noonan syndrome (NS) is an autosomal dominant condition with
variable expressions characterized by multiple physical and cardiac
anomalies.1The incidence of NS has been reported between 1/1000
and 1/2500, in the live births.2The phenotype of NS changes with age, be-
coming milder in the adult life.
Turkiye Klinikleri J Med Sci 2014;34(2) 165
Voice Characteristics of Children with
Noonan Syndrome
AABBSS TTRRAACCTT OObb jjeecc ttii vvee:: No o nan syndro me (NS) is cha rac te ri zed by mul tip le physi cal and car di ac
ano ma li es. Vo i ce cha rac te ris tics in NS are not well cha rac te ri zed in the ava i lab le li te ra tu re. The
aim of this study was to exa mi ne vo i ce pro per ti es of pa ti ents with NS. MMaa ttee rrii aall aanndd MMeett hhooddss:: This
study inc lu ded 11 chil dren with NS with a me an age of 11.96±3.47 ye ars (age ran ge: 6.3-17.7). The
con trol gro up con sis ted of 11 he althy chil dren with a me an age of 11.96±3.34 ye ars (age ran ge: 6.0-
17.1). In all sub jects (n=22), 11 pa ra me ters out of 33 aco us tic pa ra me ters of the Mul ti-Di men si o nal
Vo i ce Prog ram, re la ted to fun da men tal fre qu ency, fre qu ency va ri a ti ons, amp li tu de va ri a ti ons, and
no i se me a su re ments we re analy zed. RRee ssuullttss::In the aco us tic analy sis of chil dren with NS, soft pho-
na ti on in dex (SPI) was fo und to be lo wer than that in the con trol gro up (p<0.05). Fun da men tal fre-
qu ency of chil dren with NS was hig her than that in the con trol gro up; but the dif fe ren ce was not
sta tis ti cally sig ni fi cant (p>0.05). CCoonncc lluu ssii oonn::This study adds know led ge abo ut the cli ni cal symptoms
of chil dren with NS. The fin dings of this study in di ca te that chil dren with NS mostly sha re si mi lar
vo i ce pro per ti es with he althy chil dren.
KKeeyy WWoorrddss:: Noonan syndrome; voice disorders
ÖÖZZEETT AAmmaaçç:: Literatürde Noonan sendromu (NS) olan çocukların, ses özellikleri çok iyi tanımlan-
mamıştır. Bu çalışmanın amacı NS olan çocuklarda ses özelliklerini değerlendirmektir. GGeerreeçç vvee
YYöönntteemmlleerr:: Bu çalışmaya yaş ortalaması 11,96±3,47 ve yaş aralığı 6,3-17,7 olan NS’li 11 çocuk dâhil
edilmiştir. Çalışmanın kontrol grubu, yaş ortalaması 11,96±3,34 yıl, yaş aralığı 6,0-17,1 yıl olan 11
sağlıklı çocuktan oluşmuştur. Çalışmaya katılan tüm çocuklara Multi- Dimentional Voice Program
kullanılarak, 33 parametreden fundamental frekans, amplitüd ve frekans varyasyonları ile gürültü
ölçümlerini değerlendiren 11 parametrenin analizi yapılmıştır. BBuullgguullaarr::NS olan çocuklarda yapı-
lan akustik analizde, yumuşak fonasyon indeksi, kontrol grubundan daha düşük bulunmuştur
(p<0,05). Ayrıca NS olan çocuklarda fundamental frekans kontrol grubuna göre daha yüksek bu-
lunmakla beraber, bu fark istatistiksel olarak anlamlı bulunmamıştır. SSoonnuuçç::Bu çalışmanın sonu-
cunda, NS olan çocuklarda klinik semptomlar hakkında bilgi edinilmiş, ve normal gelişim gösteren
çocukların ses özelliklerine benzer bulgulara sahip oldukları belirlenmiştir.
AAnnaahh ttaarr KKee llii mmee lleerr::Noonan sendromu; ses bozuklukları
TTuurrkkiiyyee KKlliinniikklleerrii JJ MMeedd SSccii 22001144;;3344((22))::116655--99
Meral Didem TÜRKYILMAZ,a,b
Suna TOKGÖZ YILMAZ,c
Esra ÖZCEBE,a,b
Selcen YÜKSEL,d
Nilda SÜSLÜ,b
Mustafa TEKİNe
aDepartment of ENT,
bDivision of Audiology and
Speech Pathology,
cDepartment of Physiotherapy and
Rehabilitation Language and
Speech Therapy,
Ankara University
Faculty of Health Sciences,
dDepartment of Biostatistics,
Yıldırım Beyazıt University
Faculty of Medicine, Ankara,
eDepartment of Human Genetics,
Miami University
Miller Faculty of Medicine, USA
Ge liş Ta ri hi/Re ce i ved: 29.03.2013
Ka bul Ta ri hi/Ac cep ted: 21.05.2013
Ya zış ma Ad re si/Cor res pon den ce:
Meral Didem TÜRKYILMAZ
Hacettepe University
Faculty of Medicine,
Department of ENT,
Division of Audiology and
Speech Pathology, Ankara,
TÜRKİYE/TURKEY
didemcanatan@yahoo.com
doi: 10.5336/medsci.2013-35466
Cop yright © 2014 by Tür ki ye Kli nik le ri
ORİJİNAL ARAŞTIRMA
NS is characterized by short stature, congenital
heart defects, pulmonary stenosis, craniofacial dys-
morphisms, ophthalmologic, hematological, mod-
erate to severe intellectual, and some developmen-
tal problems.3Other characteristics may include
mild mental retardation, cryptorchidism, hypogo-
nadism, autoimmune thyroiditis, thoracic deformi-
ties, hearing difficulty, and feeding problems.4NS
is a single-gene disorder that results from mutations
in at least seven genes. Mutations in
PTPN11
are
present in approximately 50% of patients.4
Behavioral studies have shown that cognitive
function is not stable in patients with NS.5In fact,
children and adolescents with NS are at risk for
some cognitive and intellectual problems. The
prevalence of delay in speech and language, or
learning disabilities have been noted in several
studies on NS.6,7 Variations in language skills in NS
were related to cognitive and motor functions, and
not directly related to NS syndrome itself. Pub-
lished articles concerning communication profiles
of NS patients are insufficient, and voice charac-
teristics have not been studied in NS patients be-
fore. It is therefore useful to obtain more data about
acoustic parameters that may contribute to our
knowledge of differences in the vocal quality of
children with NS.
The present study aimed to examine voice
characteristics in a group of children with NS, to
compare their voice characteristics with the
healthy children, and to contribute to the existing
literature by identifying specific voice properties
in individuals with NS.
MATERIAL AND METHODS
STUDY POPULATION
This study included 11 children with NS (mean
age: 11.96 ± 3.47 years, range: 6.3-17.7 years, 4 girls
and 7 boys), and 11 age- and sex-matched healthy
children (mean age: 11.96±3.34 years, range: 6.0-
17.1 years, 4 girls and 7 boys) who served as con-
trols. NS was diagnosed using a clinical scoring
system.8This study was performed in Hacettepe
and Ankara University Audiology and Speech
Pathology Sections, in accordance with the Decla-
ration of Helsinki. The study protocol was ap-
proved by the Ankara University, School of Medi-
cine Ethics Committee. All participants and their
primary caregivers provided their written informed
consents prior to their participation in the research.
All participants were free of perceived speech dis-
orders, and passed a hearing screening of 15 dB HL
in both ears at 0.5, 1, 2, and 4 kHz. For the control
group, the children with nasal or laryngeal
pathologies or hearing loss were excluded.
ACOUSTIC ANALYSIS: EQUIPMENT AND VOICE SAMPLE
Computer acoustic analysis was performed in a
quiet room with Multi-Dimensional Voice Program
(MDVP) (Kay Electronics, Lincoln Park, NJ) of the
Computerized Speech Lab (CSL)Model 4300B Kay
Elemetrics. CSL is a general purpose system for
acoustic analysis that contains some of the voice pa-
rameters used in MDVP. MDVP is one of the ex-
tensively used computer-based software systems
since its introduction to the research field in 1982.9
All the evaluations in this study were performed by
a speech-language therapist and an otorhinolaryn-
gologist experienced in this type of assessments. The
microphone used was a Shure SM 48 dynamic, and
it was kept at a fixed distance of 5 cm, in front of
the subject’s mouth. For each subject, we studied 3-
second sustained/a/vowel production at his or her
habitual levels of pitch and loudness. In any lan-
guage, the vowel/a/ is the best vowel to use in voice
and laryngeal evaluation. The children were asked
to say the sustained vowel one time before record-
ing it, to ensure that each participant understood
the task and that the vowel quality was perceptual-
auditory similar in all emissions. Three sustained
phonation was then recorded. Discrepancies were
discharged, and the subjects were asked to record
again as close to their habitual voice as possible. The
acoustic parameters analyzed were:
1. Average fundamental frequency (Fo, Hz)
represents the average fundamental frequency for
all extracted pitch periods, short and long-term fre-
quency perturbation measurements.
2. Absolute jitter (Jita µ/s) gives an evaluation
of the period-to-period variability of the pitch pe-
riod within the analyzed voice sample.
Turkiye Klinikleri J Med Sci 2014;34(2)
166
Türkyılmaz ve ark. Kulak-Burun-Boğaz Hastalıkları
3. Jitter percent (Jitt %) gives an evaluation of
the variability of the pitch period within the ana-
lyzed voice sample.
4. Pitch perturbation quotient (PPQ %) gives
an evaluation of the variability of the pitch period
within the analyzed voice sample at smoothing fac-
tor 5 periods.
5. Coefficient of Fo variation (vFo %) repre-
sents the relative standard deviation of the Fo. It
generally reflects the variation of Fo within the an-
alyzed voice sample for both short--and long-term
amplitude perturbation measurements.
6. Shimmer percent (Shim %) gives an evalu-
ation of the variability of the period-to-period vari-
ability of the peak-to-peak amplitude within the
analyzed voice sample.
7. Amplitude perturbation quotient (APQ%)
is an evaluation of the period-to-period variability
of the peak-to-peak amplitude within the analyzed
voice sample at smoothing of 11 periods.
8. Peak amplitude variation (VAM) reflects the
very long-term amplitude variations within the an-
alyzed voice sample, noise-related measurements.
9. Noise-to-harmonic ratio (NHR) is a general
evaluation of the noise presence in the analyzed
signal (e.g., amplitude and frequency variations,
sub harmonic components, and voice breaks).
10. Voice turbulence index (VTI) measures the
energy level of high-frequency noise and correlates
with the turbulence caused by incomplete or loose
adduction of the vocal cords.
11. Soft phonation index (SPI) is an average
ratio of the lower frequency harmonic energy (70
Hz-1600 Hz) to the higher frequency (1600 Hz–
4500 Hz) harmonic energy.9,10
Eleven out of 33 MDVP acoustic parameters
of voice were chosen for this study. The other
MDVP parameters were excluded since they were
irrelevant for the purposes of the study or since
they lacked sufficient proof of validity in the liter-
ature. These selected acoustic parameters were de-
fined according to the Multi-Dimensional Voice
Program Model 4305 Manual.9Every participant
was examined before voice analysis by the same ear
nose throat specialist.
STATISTICAL ANALYSIS
All results obtained in this study were evaluated
statistically with the “SPSS 20.0 for Windows” pro-
gram. Acoustic parameters of voice values were
compared with t-test for independent samples.
Limit of significance was set at 0.05.
RESULTS
The study included 11 children with NS, and 11
healthy controls. In the ear nose throat examina-
tion, no organic lesions were detected. When
acoustic parameters of all children with NS and the
control group were compared, only the SPI was
found to be different between the two groups. SPI
was statistically lower in children with NS com-
pared to the normal children (p<0.05) (Figure 1).
Fundamental frequency (Fo) mean value was higher
than that of the control group, but the difference
was not found to be statistically significant.
Acoustic parameters of the study group are pre-
sented in Table 1.
DISCUSSION
NS is a genetic condition with variable expression
that is characterized by multiple physical and car-
diac anomalies.3The prevalence of speech and lan-
guage delays has been mentioned in several studies
of NS.11 However, there is no data available about
voice characteristics of patients with NS (e.g. typi-
cal voice profile, voice disorders, or voice charac-
teristics). The aims of this study were to determine
FIGURE 1: Soft phonation index (SPI) values of two NS and the control
groups.
(See color figure at http://www.turkiyeklinikleri.com/journal/tip-bilimleri-dergisi/1300-0292/)
Turkiye Klinikleri J Med Sci 2014;34(2) 167
Ear-Nose-Throat Diseases Türkyılmaz et al.
voice characteristics of NS, to obtain more infor-
mation about clinical symptoms in children and
adolescents with NS, and to assess variability re-
garding speech-language and voice status.
Our study is the first that investigated voice
characteristics in a large cohort of participants with
NS. The assessment of voice may be done subjec-
tively, which is perceptual or auditory, or objec-
tively with analysis methods.10,12 Acoustic analysis
of voice is also beneficial in monitoring treatment.
MDVP is the gold standard software tool for
quantitative acoustic assessment of voice quality,
calculating 33 parameters on a single vocalization.
These acoustic measures, which provide a more ex-
tensive representation of vocal function, cannot be
obtained from just airway resistance or perceptual
measures alone.11 Therefore, the exact knowledge
of these parameters gives a more comprehensive
picture of vocal function, and aids in providing
more objective outcome measures. Not all, but se-
lected MDVP parameters (Fo, absolute jitter, jitt,
PPQ, vFo, shimmer percent, APQ, VAM, NHR,
VTI, and SPI) were included in the present study.
Based on previous studies, selected measures were
accepted to be the most sensitive and objective
vocal function parameters.12 In this study, voice pa-
rameters related to fundamental frequency meas-
urements (fundamental frequency-Fo, fundamen-
tal frequency variation-vFo%), parameters related
to frequency variations (absolute jitter and jitter
percent-jitt %), parameters related to amplitude
variations (shim %), and parameters related to
noise (noise-to-harmonic ratio-NHR, voice turbu-
lence index-VTI, and soft phonation index-SPI)
were evaluated. Jitt and shim are the variations in
the Fo.11 Jitt (pitch perturbation) indicates the vari-
ability or perturbation of Fo.13 Shim (amplitude
perturbation) represents the same perturbation de-
pending on intensity of vocal emission. NHR is the
measurement of the aperiodic noise in the analyzed
signal.12 VTI is the ratio of spectral inharmonic en-
ergy to spectral harmonic energy.10,13
In the present study, Fo, vFo, absolute jitter,
jitt percent, shimmer percent, NHR, and VTI pa-
rameters were not found to be different compared
to the control group. However, a higher pitch in
NS children was somewhat confirmed by the ob-
jective measure of the Fo in this study (the differ-
ence was not found to be statistically significant),
which showed the tendency to be higher in NS
children compared with healthy children. Higher
pitch levels may be the symptoms of an increased
tension or strain leading to hyper tone vocal use,
but this is subject to further research.
In our study, just the soft phonation index
(SPI) parameter was found different when com-
pared to the normal population. Children with NS
had lower SPI values. SPI is an indicator of vocal
fold adduction and glottal closure during phona-
tion, and it measures the average ratio of the lower
frequency harmonic energy to the higher fre-
quency harmonic energy.14 Increased SPI generally
indicates a breathy voice and a higher incidence of
glottal gaps during phonation in various voice
pathologies.15 However, in our study, SPI value was
found lower than the control group. Decreased SPI
value in NS group may be related to a breathier and
more forced voice, compared to the control
group.14,16 This condition may indicate stronger la-
ryngeal adductor force, and may be a compensa-
tion for the higher inertance and resistance of the
Turkiye Klinikleri J Med Sci 2014;34(2)
168
Türkyılmaz ve ark. Kulak-Burun-Boğaz Hastalıkları
MDVP Noonan syndrome Control group
Parameters (Mean±SD) (Mean±SD) p
Fo (Hz) 276.36± 44.57 240.97±38.29 0.06
Jita (µ/sec) 51.50±43.29 51.16±6.93 0.980
Jitt (%) 1.46±1.29 1.27±0.15 0.634
PPQ (%) 0.88±0.80 0.78±0.05 0.687
vFo (%) 2.39±1.80 2.39±0.38 0.999
Shim (%) 4.74±2.44 4.88±0.81 0.852
APQ (%) 3.35±1.71 6.06±0.42 0.591
VAM 23.76±7.37 26.80±3.09 0.221
NHR 0.13±0.05 3.65±0.64 0.936
SPI 8.64±5.2 13.72±3.36 0.013*
VTI 0.06±0.04 0.04±0.007 0.058
TABLE 1: Comparison of acoustic parameters among
Noonan syndrome patients and the control group.
SD: Standard deviation; Fo Hz: Average fundamental frequency; Jita µs: Absolute jitter;
Jitt %: Jitter percent; PPQ %: Pitch period perturbation quotient; vFo %: Fundamental
frequency variation; Shim%: Shimmer percent; APQ%: Amplitude perturbation quotient;
VAM: Peak amplitude variation; NHR: Noise-to-harmonic ratio; SPI: Soft phonation
index; VTI: Voice turbulence index; MDVP: Multi- Dimensional Voice Program. *: p<0.05.
vocal tract.16 We think that this finding may be as-
sociated with poor physical condition of children
with NS. In addition, some factors of vocal fold
physiology and mechanical properties of vocal tract
which may contribute to explain of differences in
SPI values of the groups have to be considered for
further research. However, we need more research
and insights in this area.
Computer-assisted vocal analysis, imple-
mented by using MDVP software, provides objec-
tive acoustic measurements, and it is well tolerated
by children as young as 6 years of age. These at-
tractive features are relevant to its application in a
pediatric population, especially when dealing with
those children who have additional problems (de-
velopmental, cardiac, poor physical conditions,
etc.).
In conclusion, the general benefit of the pres-
ent instrumental study is to learn much more about
the clinical symptoms of children with NS, so that
doctors and speech pathologists can help patients
with NS and their families more in the future. Fur-
ther research could focus on aerodynamic meas-
urements and the possible relationship between
aerodynamic and acoustic parameters in children
with NS.
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The speech and language of Noonan syndrome children have not been well described in the literature. This case study includes medical, social, and developmental histories, a phonological analysis, a semantic, syntactic, and pragmatic analysis of spontaneous oral language, an assessment of motor and integrative skills, an audiological assessment, and a description of voice characteristics and oral structures. A brief review of the characteristics of Noonan syndrome will be provided.
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We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis. The diagnostic criteria that were used are presented compared with other published criteria for diagnosing NS. The large size of this family enabled us to test the possible involvement of candidate regions by multipoint linkage analysis. Both the region surrounding the NF1 locus on chromosome 17 and the proximal part of chromosome 22 could be excluded. Since NS may well be heterogeneous, the use of such a large family in linkage studies of NS should prove indispensable.
Article
To evaluate the cognitive profiles of children with Noonan syndrome (NS) and to relate these profiles to measures of overall clinical severity. Thirty-five children with NS between the ages of 7 and 18 years were tested on their intellectual, psychosocial, and academic functioning. The diagnosis of NS was established on the presence of a typical face, the characteristic heart defect, thorax deformity, short stature, affected first-degree relative(s), and cryptorchidism in male subjects. The total group of children with NS (n = 35) achieved significantly lower mean full-scale IQ, verbal IQ (VIQ), and performance IQ (PIQ) scores (between 85.9 and 89.3) than expected based on normative data. The individual full-scale IQ scores varied between 48 and 130. Because of this wide range of individual scores, the mean group values are not extremely informative. The mean full-scale IQ for the group with moderate NS (n = 19) is 90.8; for the children with severe NS (n = 16) the mean full-scale IQ is 80.6. The patterns of discrepancies between VIQ and PIQ are: (1) an extreme discrepancy between VIQ and PIQ is most likely to emerge in children with severe NS with (low) average intellectual abilities; (2) children with moderate NS are more likely to attain similarities in VIQ and PIQ scores; and (3) children with moderate NS demonstrate a particular pattern of discrepancy between VIQ and PIQ (ie, VIQ > PIQ). For children with NS, the findings on physical examination are indicative of the pattern of cognitive abilities. NS is not associated with substantial deficits in the level of intellectual functioning or with a single/unitary cognitive pattern. Severe NS expression, however, predicts in part a specific pattern of deficits and capacities in cognitive functioning.