PEDIATRIC REHABILITATION,
2, 83-97
Dev Neurorehabil Downloaded from informahealthcare.com by Universiteit Twente on 11/13/14
1997, VOL. 1, NO.
Physiological and perceptual features of
dysarthria in Moebius syndrome: directions for
treatment
BRUCE E. MURDOCH, SARAH M. JOHNSON AND
DEBORAH G. THEODOROS
Accepted,for publication: March 1997
Keywords dysarthria, Moebius syndrome, speech disorder
Summary
The functioning of the major subsystems of the speech pro-
duction apparatus of a 12 year old female with Moebius syn-
drome was investigated using a battery of perceptual and
physiological instrumental measures. Perceptual tests adminis-
tered included: The Assessment of Intelligibility of Dysarthric
Speech; the Frenchay Dysarthria Assessment; and a perceptual
analysis of a speech sample based on a reading of the
For personal use only.
Grandfather Passage. Instrumental procedures included: spiro-
metric and kinematic analysis of speech breathing; electroglot-
tographic and aerodynamic evaluation of laryngeal function;
nasometric assessment of velopharyngeal function; and evalua-
tion of lip and tongue function using a variety of strain-gauge
and pressure transducers. Consistent with the pathophysiolo-
gical basis of Moebius syndrome, the major dysfunctions of
the speech production mechanism were found at the level of
the articulatory valve. Somewhat unexpectedly, however,
impaired function was also identified at the level of the velo-
pharyngeal and laryngeal valves by both the perceptual and
instrumental assessments and at the level of the respiratory
system by the physiological analysis alone. The results are
discussed with reference to the neurological basis and clinical
features of Moebius syndrome. The implications of the find-
ings for the treatment of congenital dysarthria associated with
Moebius syndrome are also discussed. The advantage of
instrumental analysis over perceptual assessments in defining
treatment goals for children with congenital dysarthria is high-
lighted.
Introduction
Moebius syndrome is generally described as being
characterized by paralysis of the facial muscles and
Authors: Bruce E. Murdoch (author for correspondence),
Sarah M. Johnson and Deborah G . Theodoros, Department
of Speech Pathology and Audiology, The University of
Queensland, Brisbane 4072, Australia
1363-8491/97 $12.00
impairment of lateral gaze due to paralysis of the VII
and VI cranial nerves. The majority of children with
Moebius syndrome therefore have varying degrees of
unilateral, asymmetric or bilateral, symmetric facial
paralysis combined with an inability to adduct the eyes
beyond the midline. In addition, a range of other
anomalies have also been reported to occur in the con-
dition, including atrophy of the tongue, paralysis of the
soft palate, paralysis of the masseters, congenital club
foot, deafness, and a mild spastic diplegia.
Although the aetiology of Moebius syndrome remains
uncertain, several theories have been proposed to
explain its occurrence. According to one theory, the
condition results from prenatal, developmental, dysmor-
phogenic insult to the brainstem, probably as a conse-
quence of local vascular ischaemia, which in turn leads
to a complete or partial failure of the development of the
facial nuclei [1,2]. A second theory suggests that degen-
eration and loss of the nuclei of the VII cranial nerves
occurs secondary to peripheral nerve (e.g., facial nerve
hypoplasia) or muscular (e.g., dysplasia of the facial
muscles) abnormalities [2,3]. Whatever the aetiology,
the majority of reports of the condition document the
presence of a speech disorder, although the particular
features of the speech disorder are rarely described.
Dysarthria has been reported to occur in children
with Moebius syndrome as a consequence of paralysis
of the muscles innervated by the VII cranial nerves.
Bloomer [4]reported the dysarthric features exhibited
by children with Moebius syndrome to include poor
performance of labial and bilabial consonants.
Consistent with this latter report, Myerson and
Foushee [S] reported limited strength, range and speed
of movement of the articulators and inaccurate conso-
nant production in children with Moebius syndrome.
Articulatory competence ranged from mild phoneme
distortions requiring bilabial closure or lingual elevation
0 1997 Taylor & Francis Ltd
 B. E. Murdoch et al.
to severe articulatory difficulties resulting in profoundly
delayed and/or unintelligible oral language. To-date,
however, reports of the dysarthria associated with
Moebius syndrome have been largely descriptive and
have not involved either comprehensive perceptual nor
physiological analyses of the speech disorder. On the
basis of an examination of an 8 year-old boy with
Moebius syndrome, Kahane [6] observed that misarticu-
iations of bilateral sounds represented only one aspect
of the child’s overall articulatory disorder. The greatest
number of misarticulations demonstrated by his subject
were instead related to limitations in tongue mobility
and placement. Rather than the dysarthria being pri-
marily the outcome of facial nerve paralysis, therefore,
other cranial nerve dysfunctions need also to be consid-
ered. Consistent with this suggestion, Myerson and
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Foushee [S] also noted the presence of velopharyngeal
insufficiency manifest as hypernasality and nasal emis-
sion in some of their cases with Moebius syndrome indi-
cative of dysfunction of cranial nerves orginating from
the nucleus ambiguous.
In determining treatment priorities for dysarthria
associated with Moebius syndrome, it is possible that
the clinician should take into consideration the involve-
ment of components of the speech production apparatus
beyond those supplied by the facial nerves. The presence
For personal use only.
of dysfunction of the tongue and soft palate as well as
other subystems of the speech mechanism in children
with Moebius syndrome, requires confirmation through
the use of objective, instrumental measures. Only then
can their likely contribution to the overall speech disor-
der seen in this syndrome be properly defined and
appropriate treatment priorities determined. The aim
of the present study, therefore, was to develop a com-
prehensive physiological and perceptual profile of the
functioning of the major motor subsystems of the speech
mechanism of a child with Moebius syndrome to con-
firm or otherwise, the presence of speech production
deficits caused by multi-cranial nerve dysfunction and
to determine appropriate priorities for the treatment of
the associated dysarthria.
Case history
S UBJ ECI
The subject was a 12 year-old female who presented
with congenital hypoplasia of the muscles supplied by
the facial (VII) and glossopharyngeal (IX) cranial nerves
consistent with Moebius syndrome. The subject was
born after an uneventful pregnancy and birth was
uncomplicated. Birth weight was 2840 g. No immediate
84
resuscitation problems were evident but at 12 hours
post-birth she exhibited a rapid respiratory rate.
Neurological examination revealed an absence of facial
expression, ptotic eyelids, no discernible palatal move-
ment and head lag. Peripheral tone, muscle strength and
reflex function appeared normal. Pupils were equal and
reactive and extra ocular movements apparently normal.
The subject’s gag reflex was poor. The Moro, grasp and
suck reflexes were all normal. No tongue fasciculations
were present and chromosome studies were normal. A
tensilon test (to exclude myasthenia gravis), electromyo-
graphy and visual evoked responses indicated that the
facial nucleus-nerve complex was intact and that the
facial weakness was most likely to be due to muscle
hypoplasia.
An oromusculature examination administered at age
5 months revealed that although the lips could be closed
around a teat during feeding, the subject’s lips tended to
be maintained in the open position. At rest the tongue
was observed to be elevated inside the mouth. The sub-
ject was, however, able to move her tongue around
inside the mouth as well as protrude it outside the
mouth. The hard palate was noted to be narrow and
high-arched. No observations were made of the soft
palate. Jaw control was poor, with the subject being
unable to elevate the mandible. Consequently, the
mandible was observed to hang low at rest. The jaw
required stabilization during feeding.
A speech pathology report at age 23 months noted
that receptive and expressive language was developing
at an age appropriate level. An articulatory assessment,
however, revealed that the subject was deleting sounds
from words and substituting many sounds. Facial gri-
macing was also noticed during production of final con-
sonants. The subject did not use bilabial sounds due to
poor lip closure and initial consonants were substituted
by In/ or /h/. Marked nasal escape due to velopharyn-
geal insufficiency resulted in nasalization of all non-
nasal consonants. Some feeding difficulties were also
noted with occasional nasal regurgitation of food,
A further speech pathology report at age 11 years, 10
months indicated that in conversation, the subject at
that age produced inconsitent labial phonemes (/p/,
/b/, if/, /mi, /v/, /w/). When given cues and reinforce-
ment, however, the subject was able to produce all pho-
nemes correctly in conversation during therapy sessions
with the exception of /w/ which was substituted by /l/.
She frequently produced distorted bilabial phonemes or
produced bilabial phonemes as alveolar phonemes, how-
ever, when not concentrating on her articultion. Overall
the subject was reported to find it difficult to generalize
correct production of labial sounds due to weakness of
 Speech in Moebius syndrome
her facial musculature. A mild to moderate hypernasal-
ity also persisted.
Perceptual and physiological speech assessments
At the time of the speech assessments carried out for
the purposes of the present study at age 12 years, the
subject presented as an intelligent child with normally
developing expressive and receptive language skills and
a speech disorder associated with decreased function of
the muscles of the lips and palate.
PERCEPTUAL SPEECH ASSESSMENTS
A perceptual profile of the subject’s speech was com-
piled through administration of three different percep-
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tual assessments. These included: The Assessment of
Intelligibility of Dysarthric Speech (ASSIDS) [7]; the
Frenchay Dysarthria Assessment (FDA) [8]; and a per-
ceptual analysis of a speech sample [9].
Assessment of Intelligibility of Dysarthric Speech
This assessment provides an index of severity of dys-
arthric speech by quantifying both single-word and sen-
tence intelligibility as well as the speaking rate of
For personal use only.
dysarthric speakers. The test was administered accord-
ing to the procedure specified in the test manual and
included reading 50 randomly selected words and 22
randomly selected sentences ranging in length from 5
to 15 words. The subject’s responses were recorded
onto high quality audio-tape and then transcribed by
three independent judges. The transcriptions were
scored according to procedures specified in the test man-
ual to yield six separate values. These values included
percentage intelligibility for single words, percentage
intelligibility for sentences, total speaking rate (words
per minute), rate of intelligible speech (i.e., number of
intelligible words per minute), percentage intelligible
words, and a communication efficiency ratio which
was devised by dividing the rate of intelligible speech
produced by the subject by the mean rate of intelligible
speech produced by a group of normal adult speakers as
determined by Yorkston et al. [lo]. For each of the
values, the mean scores derived from the individual
scores assigned by each of the three judges were used
in the analysis of the results. Yorkston and Beukelman
[7] indicated that normal speakers obtain close to 100%
accuracy for single words and sentence intelligibility
values. In comparison, the subject here obtained only
67% accuracy for word intelligibility and 97% accuracy
for sentence intelligibility. These results indicated that
the subject’s speech was better understood when listen-
ers were given the opportunity to guess words, based on
the context of the sentence spoken. Although normal
speakers obtain communication efficiency ratios
between 0.9-1.00, the subject achieved a ratio of only
0.65. Her ratio was reduced, however, by her slow rate
of speech when reading sentences, rather than the result
of a high rate of unintelligible words spoken per minute.
Her score for intelligible words spoken per minute was
123, with her total words per minute score being 127.
Her percentage of intelligible words spoken was high, at
97%.
Frenchay Dysarthria Assessment
This test provides a standardized assessment of speech
neuromuscular activity, including respiration, articula-
tion, resonance, phonation and speech-related reflex
activity. The test was administered in strict accordance
with the instructions provided in the test manual. Lip
function was determined to be the most deviant system,
with a severe degree of impairment in lip function being
evident at rest and whilst spreading the lips, and a mod-
erate-severe level of impairment being present during
production of a lip seal and alternate lip movements
and during conversational speech. With the exception
of intelligibility, all other areas (i.e., reflexes, respiration,
jaw, larynx, palate and tongue) were normal. The intel-
ligibility ratings for the subject indicated a mild impair-
ment in the intelligibility of her speech for single words
and during conversation, with a slight improvement in
intelligibility being evident during the sentence subtest.
Perceptual Speech Analysis
To obtain a sample of her speech, the subject was
required to read a standard passage, ‘The Grandfather
Passage’ [l11. An unlimited time period was allowed for
the subject to familiarize herself with the passage prior
to reading. The speech sample was recorded on audio-
tape using a high quality cassette recorder (Marantz,
Model CP430) and microphone (Sony ECM-30 electret
condenser microphone). The speech sample was rated by
two judges, both experienced speech-language patholo-
gists, on the 32 dimensions of speech described by
FitzGerald et al. [9]. The dimensions included pertain
to the five aspects of speech production encompassing
prosody (including features of pitch, loudness, rate,
stress and phrasing), respiration, phonation, resonance
and articulation and overall intelligibility of speech.
Both judges listened independently to the recording of
the speech sample. The judges were given a description
85
 B. E. Murdoch et al.
of the speech dimension being rated and a 1 4 , 1-5 or 1-
7 descriptive equal interval scale on which to rate each
dimension. The speech dimensions that indicated the
severity of a dysfunction were rated on a &point scale
(e.g.. breath support for speech), while those dimensions
that were rated according to the frequency of their
occurrence in the total speech sample were rated on a
5-point scale (e.g., rate fluctuations). The 7-point scale,
with the mid-point of 4 representing normal, was used to
rate speech dimensions that could be rated on the same
scale as being too high or too low (e.g., pitch level).
Unlimited time was allowed for the judges to listen to
the tape and rate each of the speech dimensions.
Following the independent rating sessions, a further rat-
ing session was included, during which both the judges
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conferred to produce a single consensus rating on each
dimension where their judgements differed in the origi-
nal rating. The consensus ratings were then used in
further analysis of the results. Prior to the consensus
rating session, the ratings assigned by each judge to
any one speech dimension never differed by more than
one point on the rating scale. The degree of severity of
each deviant speech dimension exhibited by the subject
was determined by assigning the consensus rating score
allocated to that dimension to one of three degrees of
For personal use only.
severity oust noticeable, moderate, or severe) according
to the method described by FitzGerald et al. [9].
The subject demonstrated deviant characteristics on
five of the 32 speech dimensions rated. Of these five
deviant dimensions two related to articulation (vowel
imprecision and consonant imprecision), a further two
related to vocal quality (intermittent breathiness and
nasality) and one related to overall intelligibility. A
moderate level of imprecision was demonstrated by the
subject during articulation of both vowels and conso-
nants. The subject’s speech was infrequently interrupted
by sudden, just noticeable periods of breathiness. The
speech of the subject was rated as moderately hyperna-
sal, with vowels in particular being hypernasal in qual-
ity. The judges perception of her speech sample
indicated a just noticeable reduction in the subject’s
overall intelligibility. effort from listeners being required
to understand her speech.
PHYSJOLO<;ICAI SPEFCI-I ASSESSMENTS
The \u hject‘s articulatory, velopharyngeal, laryngeal
and respiratory function were assessed instrumentally
using a battery of physiological techniques.
86
Articulation
The assessment of articulatory function involved mea-
surement of tongue and lip strength, endurance and rate
of repetitive movements using pressure transduction sys-
tems. The transducer used for assessing tongue function
was identical to the rubber-bulb pressure transducer
described by Murdoch et al. [12]. For a detailed descrip-
tion of the tongue pressure transducer and the proce-
dure for its use see Murdoch et al. [12]. The transducer
enabled estimation of tongue strength and endurance
during performance of four different non-speech tasks.
These included:
1. Maximum tongue strength (MTS) - where the sub-
ject was instructed to ‘use the front of your tongue
to squeeze the rubber bulb against the roof of your
mouth as hard as you can’.
2. Sustained maximum tongue pressure (SMTP)-
where the subject was required to use her tongue
to compress the rubber bulb against the roof of her
mouth as hard as she could for 10 seconds.
3. Repetition of maximum tongue pressure (RMTP)-
where the subject was required to complete 10 max-
imum compressions of the bulb against the roof of
her mouth with her tongue at the rate of approxi-
mately ]/second.
4. Fast rate of repetitions of maximum tongue pres-
sure ( F R M T P F w h e r e the subject was required,
during a 10 second period, to reproduce the max-
imum number of maximum compressions of the
bulb with her tongue as she could.
Each task was carried out three times with approxi-
mately a one-minute rest period between attempts.
Longer rest periods between tasks were given if required.
All pressures were recorded in kPa. Only the best of the
three attempts at each task was included in further ana-
lysis. A total of 12 measures were taken from the four
tasks.
I. MTS
(a) Maximum tongue pressure (Pmax).
2. SMTP
(a) Maximum pressure at onset (Pmax-on).
(b) Maximum pressure at offset (Pmax-off).
(c) Mean pressure over 10 seconds.
(d) Area under the curve (mm2).
3. RMTP
(a) Pressure at first attempt (Pmax-I).
(b) Pressure at tenth attempt (Pmax-10).
(c) Mean pressure over 10 repetitions.
4. FRMTP
(a) Number of maximum compressions in 10 seconds.
 Speech in Moebius syndrome

(b) Pressure at first attempt (Pmax-first).
(c) Pressure at last attempt (Pmax-last).
(d) Mean pressure over all attempts.
The scores achieved by the subject with Moebius syn-
drome on the various tongue pressure tasks listed above
are shown in Table 1. Due to the non-availability of
normative data concerning tongue strength and endur-
ance in children of an age similar to the present subject,
her scores on the tongue tasks have been compared to
those achieved by a group of non-neurologically
impaired controls (mean age 8.2 years) on the same
pressure transduction system as reported by Murdoch
et al. [12] (see Table 1).
Examination of Table 1 shows that when compared to
data collected from normal speaking children, the sub-
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that the noted reduction in tongue strength measures
may have been caused by the subject’s high arched
palate rather than weakness of the tongue itself. The
presence of a high arched palate may have led to under-
estimation of the subject’s lingual strength due to the
need for her to move her tongue higher in the mouth
in order to compress the rubber bulb of the tongue
transducer.
A miniaturized pressure transducer (Entran Flatline
Pressure Transducer-EP-200 1-10) based on semicon-
ductor strain-gauge technology similar to that described
by Hinton and Luschei [I31 was used to estimate the
subject’s lip strength and endurance. For a detailed
description of the lip pressure transducer and the pro-
cedure for its use see Thompson et al. [14]. The transdu-
cer was mounted on a thm aluminium arm and placed

ject generated a maximum tongue pressure (30-8 kPa) of
more than two standard deviations below the mean of
the control group (mean = 65.3; SD = 16.6 kPa),
achieving only 47% of the mean tongue pressure exerted
by the control group. Her performance on other tongue
strength tasks were also indicative of reduced lingual
strength. In contrast, however, the subject exhibited nor-
mal ability to maintain and repeat maximal contractions
of the tongue muscles on the sustained pressure and
repetition tasks (see Table I). Therefore, although her
For personal use only.
on the lower lip in the midline and interlabial pressures
then estimated during performance of a range of non-
speech and speech tasks (it should be noted that due to
the small size of the transducer (5.08mm diameter,
1.65mm thickness), interlabial pressures can be mea-
sured during speech production without interfering
with normal articulatory movements).
Five non-speech tasks were completed by the subject.
These included:

tongue strength was reduced in comparision to the con-
trol group, the subject was able to maintain a consistent
pressure and a similar rate of repetition on each of the
duration tasks.
Based on the results of previous neurological exami-
nations, there was no evidence to suggest the presence of
abnormal lingual function. Consequently, it is possible
1. Maximum lip pressure (MLPbwhere the subject
was instructed to ‘squeeze your lips together as
hard as you can, then relax’.
2. Sustained sub-maximal lip pressure ( S S M L P F
where the subject was required to squeeze her lips
together at a level of 50% of her maximum lip
pressure for as long as she could.

Table 1 Moebius syndrome subject and control group: Comparison of tongue pressures

Task Control g T O U p t MbS subject*

Mean ( n = 6 ) SD
1. P max [kPa] 65.3 16.6 30.8
2. P max-on [kPa] 63.3 23.3 30-8
P max-off [kPa] 56.7 23.2 33.6
Mean pressure over 10 seconds [kPa] - - 33.0
Area under curve (mm2) 155.0 56.4 152
3. P max-l [kPa] 62.0 19.3 30.8
P max-I0 [kPa] 55.3 24.1 30.8
Mean pressure over 10 repetitions [kPa] 60.1 24-5 30.5
4. Maximum number of repetitions in 10 seconds 18.2 6.1 20
P max-first [kPaj 57.7 36.2 30.8
P max-last [kPa] 53.9 24-1 30.8
P max-first - P max-last [kPa] 3.8 - 0.0
Mean pressure [kPa] 58.1 28.1 25.8

tControl group - Murdoch, Attard, Ozanne and Stokes (1995).

*MbS subject = Moebius syndrome subject-present study

87
 B. E. Murdoch et al.

3. Fine lip pressure control (FLPCCwhere the sub-
ject was required to consecutively maintain lip
compression at 50%, 20% and 10% of her maxi-
mum lip pressure, each for a period of 5 seconds.
4. Repetition of maximum lip pressure ( R M L P C
where the subject was required to complete 10 max-
imum lip compressions at the rate of approximately
1/second.
5. Fast rate of repetitions of maximum lip pressures
(FRMLPj-where the subject was required, during
a 10 second period, to produce the maximum num-
ber of maximum lip compressions as she could.
All pressures were recorded in kPa. Each task was
repeated three times with approximately a one-minute
rest period between attempts. Only the best of the three
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(b) Pressure at tenth attempt (Pmax-10).
(c) Pmax-1 - Pmax-10.
(d) Mean pressure over 10 repetitions.
5. FRMLP
(a) Number of maximum compressions in 10
seconds.
(b) Pressure at first attempt (Pmax-first).
(c) Pressure at last attempt (Pmax-last).
(d) Pmax-last - Pmax-first.
(e) Mean pressure over all attempts.
The scores achieved by the subject with Moebius syn-
drome on the non-speech lip pressure tasks are shown in
Table 2. Due to the lack of appropriate normative data,
her performance on these tasks was compared to that of
a normal speaking, non-neurologically impaired control

attempts was used in further analysis. Measures taken subject matched for age and sex.
from the five tasks included: Examination of Table 2 shows that the maximum lip
pressure exerted by the subject with Moebius syndrome
1. MLP was only 42% of that generated by the control. The
(a) Maximum lip pressure (Pmax). ability of the two subjects to maintain 50% of maximum
2. SSMLP lip pressure, however, was similar. During performance
(a) Time 50% maximum compression maintained of all three fine motor control tasks the Moebius subject
(seconds). displayed a greater mean deviation from the target pres-
3. FLPC sure level (i.e., 50%, 20% or 10% of her maximum lip
(a) Mean pressure abovelbelow target pressure. pressure) than did the control. These results suggest that
For personal use only.

(b) SD of pressure changes above and below the Moebius subject was less proficient at maintaining
target pressure. the required degree of lip pressure indicative of poorer
4. RMLP fine motor control of the muscles of the lips than
(a) Pressure at first attempt (Pmax-1). demonstrated by the control subject. In contrast, the
Table 2 Moebius syndrome subject (MbS) and control subject: Comparison of interlabial lip pressure, fine lip pressure control and rate of lip
movement for non-speech tasks
Task Moebius subject Control subject
1. Maximum lip pressure P-max [kPa] 3.47 8.24
2. Sustained submaximal lip pressure [seconds] 48 44
3. Fine lip pressure control [kPa]
50% variation from mean -0.32 -0.17
SD 10.46 f0.98
20% variation from mean 0.25 0.05
SD 10.16 f0.55
10% variation from mean 0.11 0.07
SD f0.38 f0.36
4. Repetition of maximum lip pressure
P mdx-1 [kPa] 1.54 8.24
P max-10 [kPa] 2.08 6.31
P max-1 - P max-10 [kPa] 0.54 -1.93
Mean pressure [kPa] 1.67 7.43
5 Fast rate of repetitive lip movements
".
P max-first [kPa] 1.32 1.59
P max-last [kPa] 0.68 2.93
P mau-last - P max-first [kPa] -0.64 1.34
Mean pressure [kPa] 2.08 4.49
Number of repetitions 22 14

88
 Speech in Moebius syndrome

standard deviations of the control subject’s attempts at
the fine motor control tasks were greater than those of
the subject with Moebius syndrome, indicating that
when the control deviated from the required percentage
pressure, she did so with greater variability of lip pres-
sure than did the Moebius subject. The mean lip pres-
sure recorded from the Moebius subject on the RMLP
task was only 22% of that achieved by the control with
the Pmax-1 and Pmax-10 values obtain by her being
only 10% and 33% respectively of the control subject’s
equivalent values. Although the Moebius subject was
able to produce a greater number of lip compressions
on the FRMLP task than control, the mean strength of
her repetitions was only 46% of that achieved by the
normal speaking control.
In addition to the non-speech tasks outline above, lip
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words, the mean pressure on initial bilabial phonemes
(mean = 1.35 kPa) being only 44% of that produced by
the control subject (mean = 3.04 kPa). Similarly, the
pressure generated by the Moebius subject on medial
bilabial phonemes (mean = 0.47 kPa) was only 28%
of that generated by the control (mean = 1.67 kPa).
In contrast, the pressure generated by the Moebius sub-
ject on final bilabial phonemes in words (e.g., bobby,
mummy) (mean 0.94 kPa) was 247% greater than that
produced by the control (mean = 0.38 kPa), suggesting
that she used compensatory stronger lip pressures when
articulating final phonemes. During the sentence repeti-
tion task, the Moebius subject did not produce a con-
sistent pattern of either higher or lower lip pressures
during production of initial, medial or final bilabial con-
sonants compared to the control subject.

pressures were also recorded from the Moebius and con-

trol subjects during production of a variety of speech
tasks, including syllable repetition (e.g., /p A p A p A /,
/m ~m A m A /), word repetition (e.g., pop, mum, bob)
and sentence repetition, (e.g., see poppy again; my
mummy makes money). The results of the syllable,
word and sentence repetition tasks obtained by the sub-
ject with Moebius syndrome and her control are pre-
sented in Table 3.
For personal use only.
Velopharyngeal valve
Velopharyngeal function was assessed using the
Nasometer (Kay Elemetrics Model 6200-2). The
Nasometer is a computer assisted instrument providing
measures of nasality derived from the ratio of acoustic
energy output from the nasal and oral cavities during
speech. Acoustic energy is detected by two directional

During the production of initial bilabial phonemes in
syllables, the Moebius subject produced lip pressures
(mean pressure = 1.07 kPa) that were, on average
only 40% of those used by the control subject (mean
pressure = 2.61 kPa) for the same speech tasks. In addi-
tion, she also produced weaker lip pressures than the
control on all initial and medial bilabial phonemes of
microphones (one placed in front of the nares and the
other in front of the mouth) separated by a sound
separator plate. The instrument yields a ‘nasalance’
score comprised of a ratio of nasal to oral-plus-nasal
acoustic energy calcualted as a percentage (the nasalance
score) and displayed in real time graphic form on the
host computer (IBM compatible 486DX). As nasality

Table 3 Moebius syndrome and control subject. Comparison of interlabial lip pressure [kPa] during speech

Syllable repetition task

PA MA BA PAPAPA MAMAMA PAMAPAMA
A 1.54 1.76 1.69 1.40 0.49 0.69 1.45 1.03 0.87 0.27 0.75 1.17 0.76
B 3.36 2.86 2.37 2.29 2.82 2.18 3.36 3.13 2.14 2.86 2.86 1.42 1.69
* 46 62 71 61 17 32 43 33 32 9 26 82 45

Word repetition task

POP MUM BOB POPPY MUMMY BOBBY
A 0.64 0.86 1.17 1.47 0.49 0.49 2.15 0.50 1.99 0.59 1.66 0.31
B 3.89 0.21 2.89 0.93 3.89 0.00 2.23 1.81 3.36 1.71 1.96 1.50
* 16 409 40 158 13 4900 96 28 59 so 8.5 21
Sentence repetition task
POPPY MY MUMMY MAKES MONEY BUY BOBBY BALL TAP
A 1.03 1.79 0.86 0.19 0.82 1.09 0.82 0.42 0.82 0.44 0.31 0.60
B 0.89 1.69 0.99 0.82 0.21 0.43 0.00 3.48 0.04 0.76 0.54 1.88
* 116 106 87 23 390 253 8200 12 2050 58 57 32

A = Moebius syndrome subject

B = Age-matched control subject
* = Moebius syndrome subject’s perentage of age-matched control

89
 B. E. Murdoch et al.

increases, the nasalance trace rises towards the 100%
nasalance mark.
Whilc fitted with the nasometer, the subject was
required to produce a series of nasalized and non-nasa-
lized sounds, words and sentences. The nasalance scores
obtained by the subject with Moebius syndrome
together with those achieved by an age and sex-matched
control are shown in Table 4.
The subject with Moebius syndrome obtained higher
nasalance scores than the control subject during the pro-
duction of the non-nasal sounds /eel, iooi, /ah/ and the
non-nasal sentences 'stop the bus' and 'look at this book
with us'. With the exception of lahi, all of these utter-
ances were produced with nasalance scores greater than
20% of the scores obtained by the control subject for the
same utterances, indicative of hypernasality. The mean
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production of other nasal utterances (/m/ and nasal
words - make, knees) fell within 20% of the nasalance
scores recorded by the control, suggesting that nasality
was within normal limits on these latter tasks.
Laryngeal valve
Physiological evaluation of laryngeal function was
carried out using two indirect techniques which included
electroglottography (electrolaryngography) and an aero-
dynamic laryngeal assessment. Electroglottography is an
electrical impedance method of estimating vocal fold
contact during phonation which is designed to allow
investigation of laryngeal microfunction (cycle-by-cycle
periodicity and contact). The electroglottographic
assessment was conducted using a Fourcin laryngo-

nasalance score achieved by the subject with Moebius
syndrome during production of a variety of non-nasal
words (bake, bees, sat. set, seat. sit. suit) fell within 30%
of that obtained by the control subject for the same
words.
When compared across all non-nasal utterances (i.e.,
non-nasal sounds non-nasal words and non-nasal sen-
tences), the mean nasalance score achieved by the sub-
ject with Moebius syndrome was 195% greater than the
mean nasalance score obtained by the control subject.
For personal use only.
graph interfaced with a waveform display system (Kay
Elemetrics Model 6091) running on a 486DX IBM com-
patible computer. The system recorded the surface area
of contact of the vocal folds and the subsequent vocal
fold vibratory patterns during phonation tasks. These
features were displayed in the form of an Lx waveform,
allowing for acquisition and real-time viewing of the Lx
waveform on the computer monitor as well as storage
and analysis of segments of the waveform. Parameters
measured by this technique included fundamental fre-

These results are indicative of a high degree of hyper-
nasality in the speech output of the subject with
Moebius syndrome during production of non-nasal
utterances.
During production of the nasal sentence 'Mum made
me some plum jam', the subject with Moebius syndrome
achieved a nasalance score greater than 20% below that
of the control subject, indicative of a degree of hyponas-
ality on this task. Her nasalance scores obtained during
quency (Fo),duty cycle and closing time. For a complete
description of the elctroglottographic instrumentation
and procedure see Theodoros and Murdoch [15].
Aerodynamic measures allow indirect examination of
the macrofunction of the larynx including laryngeal air-
flow, glottal resistance and glottal power. Estimates of
the parameters were obtained using a voice function
analyser, the Aerophone 11 Airflow Measurement
System, Model 6800 (Kay Elemetrics Corp.). In addition

Table 4 Moebius syndrome subjed (MbS) and control subject: Comparisons of nasalance scores achieved on the nasometer

Percentuge nusuluncr
Moehiic, c)ntlrome J U h J e c l ( A ) Age-matched control ( B )
Mean SD Mcwn SD Mhs subjet f
% of control

Sounds EE 57 85 4 48 14 33 4 41 404%
00 26 59 2 91 2 65 0 91 1003%
4H 8 50 0 51 113 6 15 119%
v 90 16 162 92 46 193 98%
Word\ NNW 12 61 3 52 13 73 6 50 92%
NW 56 63 12 50 56 91 4 59 99%
%!ntenc@ ML'M 48 13 26 59 62 79 30 31 17%
NNSE 15 95 6 27 8 09 2 31 196%

hhW non-nasal words (bake. sat, set, sit suit)

N# n,tsal moords (make, knees)
NNSE non-nasal sentences (Stop the bus, Look at this book with us)

90
 Speech in Moebius syndrome
to estimates of various aerodynamic measures relevant
to laryngeal function, the Aerophone I1 was also used to
determine subglottal air pressure. According to Netsell
et al. [ 161, subglottal air pressure is more an indicator of
respiratory support for speech than laryngeal activity.
The Aerophone I1 includes a hand-held transducer
module and a data acquisition and processing software
program running on a 486DX IBM compatible compu-
ter. The transducer module consists of miniaturized
transducers capable of recording air flow, air pressure
and acoustic signals during speech. A .disposable anaes-
thetic face mask, through which a thin flexible tube of
silicon rubber was inserted to record intra-oral pressure,
was attached to the hand-held transducer module. In the
current study a F300L flowhead was used for data col-
lection. The subject was required to place the mask of
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the transducer module over her face with the rubber
tube positioned centrally over the top of the tongue
for the aerodynamic assessment. Tasks involving vocal
efficiency and rapid initiation and termination of voicing
were used to evaluate the aerodynamics of laryngeal
function. Subglottal air pressure, average phonatory
sound pressure level, glottal resistance and phonatory
airflow were determined from the vocal efficiency task
while ab/abduction rate of the vocal folds was deter-
mined from the second task. For a detailed description
For personal use only.
of the instrumentation and procedure for use of the
Aerophone IT, see Theodoros and Murdoch [15].
Due to the lack of appropriate normative data, the
performance of the subject with Moebius syndrome on
the various laryngeal parameters was compared to that
of the non-neurologically impaired control subject
matched for age and sex (see Table 5).
The scores obtained by the subject with Moebius syn-
drome for Fo, duty cycle, closing time and sound pres-
sure level were all within 20% of the values obtained by
the control for the same parameters. Consequently, the
values recorded by the subject with Moebius syndrome
were considered to be within normal limits. The experi-
Table 5 Moebius syndrome and control subject: Comparisons of scores achieved on the electroglottographic and aerodynamic assessments of
laryngeal function
Parameters Moebius syndrome subject
Mean
Fo - Fundamental frequency (Hz) 225.26
DC - Dutv, cvcle
, 0.55
CT - Closing time (ms) 1.08
AB - Ab/adduction rate (c.P.s.) 2.64
GP - Glottal pressure (mm H20) 2.62
SP - Sound pressure level (dB) 12.3
GR - Glottal resistance (Nsjm5) 4.51
PF - Phonatory flow rate (I/s) 0,389
mental subject differed from the control in having
slower ab/abduction rate (71% of control), reduced
sub-glottal pressure (18% of control) and reduced glot-
tal resistance (1 1 YOof control). In contrast, the subject
with Moebius syndrome demonstrated an elevated pho-
natory flow rate (153%) compared to the control sub-
ject.
Respiration
Respiratory function was measured using both stan-
dard clinical spirometric and kinematic procedures. The
spirometric assessment was conducted using a
Mijnhardt Vicatest-P1 spirometer, comprised of a digi-
tal volume transducer coupled with a microprocessor,
and yielded measures of vital capacity and forced
expiratory volume one second (FEV,). These values
were compared to predicted values taking into account
the subject's age, sex and height using the formulae pro-
vided by Boren et al. 1171 and Kory et al. [18]. For a
detailed description of the spirometric instrumentation
and procedure see Murdoch and Hudson-Tennent [ 191.
The kinematic analysis involved recording of lung
volume changes during selected speech and non-speech
tasks using the computerized strain-gauge belt pneumo-
graph system developed by Murdoch et al. [20]. Briefly,
this system involves simultaneous, but independent,
recording of circumferential size changes of the rib
cage and abdomen. The rib cage and abdominal com-
ponents of the respiratory system must be co-ordinated
in their respective movements in that they each contri-
bute simultaneously to changes in total lung volume and
the production of sub-glottal air pressures during
speech. Knowledge of how lung volume changes are
partitioned between the rib cage and abdomen is of
fundamental importance to understanding the physiolo-
gical bases of both normal and disordered speech pro-
duction. Speech tasks consisted of the subject
performing a series of vowel prolongations and syllable
Age-matched control subject Moebius syndrome
subject's % of control
Mean
229.90 98%
0.55 100%
1.21 89%
3.71 71 Yo
10.32 18%
13.7 98%
39.89 11%
0.254 153%
91
 B. E. Murdoch et al.

repetitions as well as the subject reading the
Grandfather Passage 1111. The results of the spirometric
assessment are shown in Table 6.
Results achieved outside 80% of the predicted values
for a child of the same age, sex and height are considered
to be abnormal [17.18]1. Using this criterion, the subject
with Moebius syndrome demonstrated reduced vital
capacity, forced vital capacity and FEVI. Table 7
shows the results of the kinematic analysis. Due to a
lack of appropriate normative data for a child of this
age, the results obtained by the subject with Moebius
syndrome were compared to those obtained by a
group of five non-neurologically impaired subjects
(mean age = 12.5 years) reported by Murdoch and
Hudson-Tennent [19]. Results greater or lower than
one standard deviation away from the control group
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these parameters. Results greater than one standard
deviation below the mean, however, were achieved by
her for LVI and ABVI during the vowel task and all
excursion measures (i.e., LVE, RCVE and ABVE) dur-
ing the vowel and syllable tasks. The experimental sub-
ject achieved results greater than one standard deviation
above the control group mean for the measure of termi-
nation (i.e., LVT, RCVT, ABVT) for both the vowel
and syllable tasks.
Overall, these findings indicate that the subject with
Moebius syndrome demonstrated a reduction in the
excursion of the chest wall during production of vowel
prolongations and syllable repetitions compared to the
control group. In particular, she did not expel the avail-
able air in her lungs during these tasks, resulting in ele-
vated lung volume termination levels. In addition,

mean were taken as indicating performance outside nor-
mal limits by the experimental subject.
The subject with Moebius syndrome obtained values
within one standard deviation of the control group's
performance on RCVI (see Table 7 for explanation)
during the \owel task and for all initiation levels on
the syllable task suggestive of normal performance for
during performance of these tasks the subject with
Moebius syndrome did not inhale to her full capacity
before commencing each of these speech tasks resulting
in decreased lung volume initiation levels. Consequently,
as a result of depressed initiation levels and elevated
termination levels, the excursion of her chest wall was
reduced leading to lower lung volume excursion levels

Table 6 Moebius syndrome subiect (MbS): Respiratory parameters measured by standard clinical spirometric assessment
For personal use only.

Predicted values in comparison Subject's percentage of

1 0 normal population [I I, 181 predicted values [ 1I, 181
FVC ( L ) 1.31 2.45 53%
FV1 (1-1 0.75 2.09 36%
VC ( L ) 1.14 2.45 41Yn
FV 1 ,VC ( ?'o ) 66.00 84.00 79%

FVC = Forced vital capacity, FVI = forced expiratory volume in I second. VC = Vital capacity, MbS subject = Moebius syndrome subject

Table 7 Moebius syndrome subject and control group: Comparison of respiratory parameters referenced to the 0% limit

r '(JIUVi? Syllables Reading

Control group .Moebiir.s Control group Moehius Control group Moebius

in=.(/ .rpfronw i n = 5) syndrome (n=5) syndrome
subject subject subject
Meun SD Mean SD Mean SD
LVI 90.8 8.2 76 85.6 10.6 15.3 39.9 1.4 83
LV1' 1.3 2.4 28 2.7 2.9 29.6 8.9 6.1 48
LVE XII 5 8-0 48 83.2 10.9 45.6 31.0 10.4 35
RCVI 94.3 9.2 86.3 94.3 9.2 87.6 30,O 10.2 54
RCV? 35 4.2 17 3.2 4.2 23 6.2 3.5 26
RCVE 89-9 10-8 69.3 89.4 9.3 64.6 23.8 8.4 28
ABVI 86.4 8.5 77.6 79.5 8.3 72.6 46.4 7.3 100
ABVT 1.8 3.6 37 3.0 2.8 34 10.4 7.6 60
ABVE 84.5 9. I 40.6 16.5 5.6 38.6 35.9 8.7 40

LVI ILung volume initiation (in o h VC). LVT = Lung volume termination (in 04 VC), LVE = Lung volume excursion (in YOVC), RCVI =
Rib cage volume initiation (in 010 Rib cage capacity [RCC]), RCVT = Rib cage volume termination (in Yn RCC), RCVE = Rib cage volume
e~cursion( i n " U RCC'), ,ABVI = Abdominal volume initiation (in Yn Abdominal capacity [ABC]), ABVT = Abdominal volume termination (in
l o ABC). ABVE =- ,Abdominal volume excursion (in Yn ABC).

92
 Speech in Moebius syndrome
compared to the control subjects when producing vowel
prolongations and syllable repetitions.
In contrast, the subject with Moebius syndrome
obtained values within one standard deviation of the
control group mean on all lung volume excursion mea-
sures during the reading task. Interestingly, however,
she obtained results greater than one standard deviation
above the control group mean for the measures of lung
volume initiation (i.e., LVI, RCVI, ABVI) and lung
volume termination (i.e., LVT, RCVT, ABVT) during
the reading task. The latter results indicated that the
subject with Moebius syndrome used the upper end of
her lung volume range rather than the lower end during
the reading task. The control group, on the other hand,
used the lower end of their lung volume range for the
same task.
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Discussion
The results of the multi-component physiological and
perceptual analyses showed that the subject with
Moebius syndrome demonstrated dysfunction at all
levels of the speech production apparatus, deficits
being identified in the articulatory, velopharyngeal, lar-
yngeal and respiratory subsystems.
For personal use only.
Articulation
The subject with Moebius syndrome exhibited articu-
latory system dysfunction that contributed to the impre-
cision of consonants and vowels and the overall
reduction in her perceived speech intelligibility. Two
speech dimensions relating to articulation, namely con-
sonant precision and vowel precision, were moderately
impaired in the subject with Moebius syndrome. The
perceptual findings of articulatory imprecision gained
support from results of the FDA in which movements
of the lips during speech were noted to be severely
impaired. The intelligibility ratings on the FDA and
the ASSIDS, indicating mild to moderate impairment
of her speech intelligibility similarly supported the per-
ceptual findings of articulatory imprecision.
The results of the lip pressure transducer analysis
indicated that the subject with Moebius syndrome
demonstrated impairment of labial function compared
to an age-matched control. In particular, she demon-
strated reduced lip pressure, inconsistent maintenance
of lip pressure and poor fine motor control of the lips.
The subject with Moebius syndrome did, however,
demonstrate normal endurance and normal rate of repe-
titive movements of the lips. The basis of the articula-
tory subsystem dysfunction identified by the lip pressure
transducer analysis is best explained in relation to the
effects of Moebius syndrome on neuromuscular func-
tion. In that this syndrome is typified by specific damage
to various levels of the seventh nerve lower motor neu-
rone pathway, the muscles innervated by the seventh
nerve (namely, the muscles of the lips) are likely to
experience the effects of neuronal/muscle damage at
the level of the seventh nerve nucleus, lower motor neu-
rones or muscles innervated by the seventh nerve. As a
result the functioning of the lips would presumably be
affected by damage along the lower motor neurone
pathway. Darley et al. [ 111 identified lower motor neu-
rone damage as partial or complete loss of strength of
the articulators causing a reduction in phoneme preci-
sion and the clinical entity of flaccid dysarthria. On the
basis that the impairment of lip function in the subject
with Moebius syndrome is similar to that described by
Darley et al. [l 11, and given that the present subject was
diagnosed with muscle hypoplasia of the muscles inner-
vated by the seventh cranial nerve, it is speculated that
her demonstrated lower lip pressure, inconsistent main-
tenance of pressure and fine force control and normal
endurance and rate were directly attributable to the con-
genital effects of Moebius syndrome.
The tongue transducer analysis demonstrated
impaired lingual function in the Moebius syndrome sub-
ject which was not evident at the perceptual or clinical
levels. The performance of the Moebius syndrome sub-
ject on all tongue strength tasks indicated reduced lin-
gual strength. However, the Moebius syndrome subject
exhibited normal ability to maintain and repeat maximal
contractions of the tongue msucles on the sustained
pressure and repetition tasks. Based on the results of
her earlier neurological examinations, there is evidence
to indicate normal lingual function in the subject with
Moebius syndrome. Consequently, it is speculated that
the noted reduction in tongue strength is the result of
her high arched palate, rather than weakness of the ton-
gue itself. Similarly, several other studies [5, 2 1-23] have
also documented the presence of high arched palates in
subjects presenting with Moebius syndrome. It is sug-
gested that given the presence of her high arched palate,
the present subject’s lingual strength was underesti-
mated as a result of the need for her to move her tongue
higher in the mouth than the control group in order to
compress the rubber bulb of the tongue transducer. The
findings of articulatory dysfunction in the speech of the
subject with Moebius syndrome in the present study are
consistent with comments and broad descriptions made
by previous investigators regarding the dysarthric
speech of subjects with Moebius syndrome. Meyerson
and Foushee [5] described their subjects with Moebius
93
 B. E. Murdoch et a].
syndrome as having compensatory placement for diffi-
cult phonemes, inaccurate consonant production and
limited strength, range and speed of movement of the
articulators. Similarly, Bloomer 141 mentioned lack of
discriminate movement of the muscles of the lips by
subjects with Moebius syndrome. Bilateral paralysis of
the muscles innervated by the seventh cranial nerve,
including those muscles involved in speech, typical of
Moebius syndrome and demonstrated in the present
subject, is therefore the likely cause of her articulatory
imprecision.
The results of the perceptual analysis demonstrated
reduced intelligibility of the speech of the subject with
Moebius syndrome. While articulatory disturbance per
se would seem to be the primary cause for the articula-
tory disturbance perceived to be present in her speech,
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the moderate consonant and vowel imprecision may also
be contributed to by the dysfunction of the velopharyn-
geal and laryngeal valves. The articulation of the speech
sounds of the English language requires mainly oral
resonance and varying degrees of intra-oral pressure
for the production of the majority of the speech sounds.
Full nasal resonance and an open velopharyngeal port
are required only for the articulation of the phonemes
m:, in: and p g j [34]. Failure of the velopharyngeal port
to close effectively or coordinate closure with articula-
For personal use only.
tion results in reduced intra-oral pressure required for
the production of pressure consonants, nasalization of
vowei production and nasal emission through the nose
rather than the mouth [25]. During articulation, velo-
pharyngeal incompetence allows the breath stream to
dissipate through the nasal cavity so that there is insuf-
ficient pressure within the oral cavity and an inappropri-
ate direction of the breath stream through the nasal
cavity. Even though the individual articulators may be
functionally unimpaired, the speaker with velopharyn-
geal incompetence may be perceived as having weak,
imprecise and distorted articulation [24].
It is possible that the articulatory impairment demon-
strated by the present subject may be contributed to by a
reduction in intra-oral pressure in the oral cavity as a
result of velopharyngeal inconsistencies. For example,
during production of a voiceless stop ip,’. it is possible
that. in the subject with Moebius syndrome, impairment
of the velopharyngeal valve caused insufficient closure
to ensure that air moved directly into the oral cavity
rather than the nasal cavity, resulting in a leakage of
air through the nasal cavity and preventing sufficient
airflow reaching the lips. Consequently, bilabial produc-
tion of p: would lack sufficient oral pressure and result
, As was mentioned above, full nasal resonance and an
in weak, imprecise articulation and hypernasality of
non-nasal utterances.
94
Velopharvngeal valve
Disorders of resonance were found to be present in
the speech characteristics of the subject with Moebius
syndrome. Moderate hypernasality was apparent in the
verbal output of the subject in the perceptual analysis.
The perception of hypernasality may be a direct result of
velopharyngeal dysfunction whereby the muscles of the
soft palate and the constrictor muscles of the pharynx
fail to effect maximum closure of the velopharyngeal
port at the appropriate moments during speech. It is
also possible that perceived hypernasality may be the
result of a misperception of the deviant resonance
speech dimensions due to the acoustic interference of
other deviant speech characteristics [24] and structural
abnormalities (for example, high arched palate, which
was observed in the present subject).
Although perceived to have normal palatal movement
on the FDA, moderate hypernasality was identified in
the speech output of the subject with Moebius syndrome
on the basis of the perceptual analysis of the speech
sample, the two perceptual methods of assessment
thereby revealing conflicting results. In order to either
confirm or disprove the presence of a nasality disorder
in the present subject therefore, an objective, instrumen-
tal assessment of her velopharyngeal function was
required. The results of the instrumental analysis of
velopharyngeal function using the nasometer confirmed
that the subject with Moebius syndrome demonstrated a
high degree of nasalance on production of non-nasal
sounds indicative of hypernasality and a tendency to
hyponasality during production of nasal sentences.
Disorders of nasality of speech are the outcome of
improper functioning of the velopharyngeal valve,
caused by disturbance in the basic motor processes
that regulate contraction of the muscles of the soft
palate and pharynx, leading to a reduction in the force
of their contractions and limitation of their range of
movement [Ill. Such impairment may be caused by
damage to the lower motor neurones that supply mus-
cles of the soft palate and pharynx. Indeed, the subject
with Moebius syndrome was noted to have an immobile
palate when assessed at an early age and has been diag-
nosed with agenesis of the glossopharyngeal nerve.
Further to this, several authors have reported that sub-
jects presenting with Moebius syndrome have displayed
palatal weakness [26],velopharyngeal incompetence and
insufficiency including hypernasality and nasal emission
PI.
open velopharyngeal port are required for the articula-
tion of the phonemes /mi, in/ and /ng/ [25].Therefore,
 Speech in Moebius syndrome
during production of a nasal sound requiring an open
velopharyngeal port, it is possible that, as a result of her
impairment in the articulatory valve, that the subject
with Moebius syndrome produced insufficient closure
of the lips to ensure that air moved directly into the
nasal cavity rather than the oral cavity, resulting in a
leakage of air from within the oral cavity and preventing
sufficient airflow reaching the nares. Consequently,
nasal consonant production would lack sufficient velo-
pharyngeal airflow. These inadequacies at the articula-
tory valve may therefore, at least partly, explain the
presence of hyponasality during the subject’s production
of a nasal sentence.
Laryngeal valve
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Although the various perceptual analyses indicated
that the subject with Moebius syndrome demonstrated
only mild, intermittent breathiness and difficulty main-
taining phonation for an extended period of time, in
contrast the instrumental analyses based on vocal fold
vibration and aerodynamic measures identified the pre-
sence of a number of laryngeal deficits which were not
evident nor expected at the perceptual or clinical level.
Specifically the subject with Moebius syndrome demon-
strated reduced ad/abduction rates and reduced glottal
For personal use only.
resistance and subglottal pressure. One explanation for
the apparent inconsistencies between the perceptual and
instrumental findings is the inadequacy of perceptual
evaluation in identifying normal and abnormal voice,
as well as determining specific deviant laryngeal features
at decreased levels of severity or against a background
of other deviant speech features [27-291. Perceptual ana-
lysis essentially identifies and describes the characteris-
tics of a speech or voice disorder but in effect, does not
define the nature of the physological impairment [30],
unlike the instrumental measures, which provide objec-
tive data regarding the specific nature of the deficits. As
a result, the reliance on perceptual assessment of laryn-
geal function alone may lead to inaccurate assumptions
regarding the true nature of the phonatory disturbance
~51.
It is also possible that an underestimation of subglot-
tal pressure occurred as an outcome of the instrumental
method used for its determination. In that subglottal
pressure is measured indirectly by the Aerophone I1
via an equivalent measurement of oral pressure during
the production of a voiceless stop/p/, it is possible that,
in the subject with Moebius syndrome, impairment of
the bilabial seal at the articulatory valve or impairment
of the velopharyngeal valve may cause a leakage of air
from within the oral cavity, resulting in a recording of
reduced oral pressure and therefore, subglottal pressure
[31]. It is suggested that the present subject’s inability to
effect full lip closure during articulation and an inability
to consistently close to the velopharyngeal port effec-
tively caused a leakage of air from within the oral cavity,
resulting in decreased oral pressure and therefore,
underestimation of subglottal pressure.
Respiration
On the basis of perceptual analysis of the speech sam-
ple and the FDA, the subject with Moebius syndrome
demonstrated respiratory support for speech within nor-
mal limits. The results of the kinematic analysis of
speech breathing, however, indicated that the subject
demonstrated a pattern of breathing during speech
that differed to that of a control group, in relation to
termination, initiation and excursion of the chest wall.
These results were not expected nor evident at the per-
ceptual or clinical level. During speech tasks requiring a
maximum respiratory effort (that is, sustained voivel
and syllable repetitions) the subject demonstrated
depressed initiation levels and elevated termination
levels resulting in reduced excursion of the chest wall
and leading to lower lung volume excursion. The
depressed initiation levels and elevated termination
levels were indicative of reduction in contractions of
the muscles of the rib cage and abdomen [19] in com-
parison to the control group, when performing these
tasks. Although the reason for this finding is not
obvious, it is likely to be a manifestation of impaired
ability to regulate the duration and timing of contrac-
tion of abdominal and rib cage muscles [19]. During the
speech reading task, which did not require maximum
respiratory effort, the subject with Moebius syndrome
initiated and terminated her speech activities at higher
lung volumes than the control group, although her lung
volume excursions for this task were similar to the con-
trols. It is suggested that this phenomenon may have
been a compensatory strategy used by the subject to
help her compensate for loss of air occurring at other
malfunctioning valves hgher up in the speech mechan-
ism, namely the laryngeal, velopharyngeal and articula-
tory valves.
Directions for treatment
The results of the multicomponent analysis showed
that, in addition to the expected articulatory deficits
caused by bilateral facial muscle paralysis, the subject
with Moebius syndrome also demonstrated an unex-
pected major dysfunction at the level of the velo-
95
 B. E. Murdoch et al.
pharyngeal valve and more minor unexpected deficits in
laryngeal function and speech breathing. Clinically these
findings have important implications for the treatment
of dysarthria in Moebius syndrome. In particular, the
findings in the present case highlight the need for clin-
icians, when determining treatment priorities for dysar-
thria associated with Moebius syndrome, to take into
consideration dysfunction at levels of the speech produc-
tion apparatus other than the articulatory valve. The
treatment priorities determined from the physiological
and perceptual assessments administered to the present
subject are outlined below.
Firstly, the high profile of abnormal features of lip
function in the subject’s speech output identified by
both the physiological and perceptual assessments sug-
gests that this aspect of speech production needs to be
Dev Neurorehabil Downloaded from informahealthcare.com by Universiteit Twente on 11/13/14
the first treatment priority of the speech clinician.
Secondly, in that lip function was severely compro-
mised, the primary target of articulation therapy should
be the improvement of lip strength and the ability to
monitor fine motor control. Although the dysfunction
of the lips would appear to have been the primary cause
of the perceived abnormalities of articulation in the sub-
ject with Moebius syndrome. the clinician must, how-
ever. consider the degree of contribution of impairments
at other levels of the speech production mechanism to
For personal use only.
her observed articulatory disturbance. To treat the over-
all speech disorder in this case, treatment for labial dys-
function would need to be followed by therapy aimed at
other levels of the speech mechanism, the particular
component being determined by the treatment heirarchy
devised on the basis of the multicomponent physiologi-
cal analysis.
Velopharyngeal function was also found to be
impaired in the speech production mechanism of the
subject with Moebius syndrome which contributed to
the overall reduction in her intelligibility. Netsell and
Daniel 1321 suggested that therapy designed to improve
velpharyngeal function precede articulatory therapy,
because normal velopharyngeal function is necessary
for the buildup and maintenance of air pressure in the-
mouth that is required for many consonant sounds.
However, in the present subject, lip dysfunction was
found to be a greater contributor to reduced intelligibil-
ity than velopharyngeal dysfunction, which was incon-
sistently impaired. Therefore, labial dysfunction was
deemed the first treatment priority.
Laryngeal and respiratory valve impairments were
also found in the speech production mechanism of the
subject with Moebius syndrome. These deficits were,
however. only minor and indeed, it is suggested that
deficits a t the laryngeal and respiratory levels were pri-
96
marily the result of insufficient valving at the levels of
the articulatory and velopharyngeal valves. Therefore,
therapy aimed at remediating laryngeal and respiratory
subsystems may not be effective in improving the speech
intelligibility of the present subject. However, it is sug-
gested that if deficits still exist at the laryngeal and
respiratory levels following successful treatment of the
velopharyngeal and articulatory valves, therapy target-
ing laryngeal and respiratory functions may then be use-
ful.
Conclusions
On the basis of a battery of physiological and percep-
tual assessments, deficits were identified at ail major
levels of the speech production apparatus in the present
subject with Moebius syndrome. Deficits at the articu-
latory valve were not unexpected, as a result of the con-
genital effects of Moebius syndrome, while deficits at the
level of the velopharynx were not predicted nor detect-
able during conversational speech. Treatment of the def-
icits at the articulatory and velopharyngeal valves is
considered to be efficacious in improving the speech
intelligibility of the subject with Moebius syndrome
and is therefore considered a priority.
While skilled perceptual analyses and treatments
remain useful in clinical practice, the use of instrumental
measures for assessment and rehabilitation allows the
clinician to concentrate on the specific nature of the
speech impairment and facilitate treatment of the speech
disorder separate from the general speech disability [30].
For example, without instrumental assessment, velo-
pharyngeal dysfunction would have gone undetected in
the present case. Ultimately, having directed individual
therapy aimed at those components determined to be
the major contributors to the speech disorder, based
on the results of objective physiological analyses, treat-
ment should be simultaneously focused on all dysfunc-
tional components of the speech mechanism. Only then
could general improvement of the speech disorder be
expected with a corresponding improvement in speech
intelligibility.
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