JOURNAL OF COMMUNICATION DISORDERS I5 (I 982).

341- 352 347

NOONAN SYNDROME: SPEECH AND LANGUAGE

CHARACTERISTICS
MARCO WILSON and ALICE DYSON
Eastern Kenruck~ Universiry

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.

Introduction

Noonan syndrome (Noonan and Ehmke, 1963) is a congenital disorder that

occurs approximately once in 1000 births, ranking second in frequency of
occurrence among disorders with multiple congenital anomalies. Characteristics
associated with Noonan syndrome include any or all of the following: cardiac
defects, short stature, ear anomalies, hypertelorism (wide-spaced eyes), short
webbed neck, ptosis of the eyelids, high arched palate, dental malocclusion,
curly hair, genital malformations, impaired intellect (a 50-68% incidence has
been observed), and delayed gross motor development.
Although numerous articles have been published which describe the medical
and genetic features of Noonan syndrome, only two describe the speech and
language characteristics of such children. Nora et al. ( 1974) examined 25
patients and found articulation deficits in 72% and hearing deficits in 12%.
Neither the speech problems nor the hearing problems were described.
Hopkins- Aces and Bunker (1979) presented a case study of a nonverbal Noonan
syndrome child and analyzed preverbal communicative functions using systems
devised by Dore (1974) and Halliday ( 1975).

Case Report

The subject of this case study, “M,” is a 7 yr, 7-mo old female. Although
delayed in speech and language development, M provided a sufficient corpus for

Address correspondence to Margo Wilson, Department of Special Education, Wallace 245,

Eastern Kentucky University, Richmond, KY 4047.5.

a Elsevier Science Publishing Company, Inc., 1982

52 Vanderbilt Ave., New York, NY 10017 0021-9924/82/050347-06$02.75
34x MARGO WILSON and ALICE DYSON

a detailed phonological and linguistic analysis. The diagnosis of Noonan

syndrome was made at the age of 4 yr, 6 mo. The following characteristics of
Noonan syndrome were present. As far as short stature, M was below the 5th
percentile for girls of her age, while head circumference was within normal limits
and weight was between the 10th and 25th percentile. M displayed ptosis of the
eyelids. hypertelorism, asymmetrically placed ears, and curly hair. Other Noonan
syndrome characteristics displayed by M included valvular pulmonary stenosis (a
tightening of the valve leading from the heart to the lungs), poor dental occlusion
and multiple cavities, an enlarged liver. and delayed mental and motor
development. Audiological assessment yielded fairly reliable responses that
indicated pure-tone thresholds within normal limits except at 500 Hz where a
30-dB threshold was obtained for both ears, and a slightly depressed threshold at
4000 Hz for the right ear. Speech reception thresholds were in agreement with
the pure-tone findings.
Developmental history was remarkable for delayed motor and language
milestones. with walking not reported until 2 yr. 6 mo, and first word at 3 yr. As
an infant. M was diagnosed as Down’s syndrome on the basis of facial stigmata
and the presence of a single crease in the palm of her right hand. She was
hospitalized three times in her first year for pneumonia. had numerous reactions
to a variety of formulas. and failed to thrive until 7 mo of age. A chromosome
study revealed no abnormalities.
The following language assessment tools were used: Vocabulary Comprehen-
sion Scale (Bangs): Peabody Picture Vocabulary Test (Form A) [PPVT]; and a
spontaneous language sample. analyzed using Tyack and Gottsleben’s (1977)
method, Bloom and Lahey’s semantic relationships (1978), and Dore (1974) and
Halliday’s ( 1975) descriptors of pragmatic functions. An analysis of phonologi-
cal processes and an examination of the oral mechanism was done, and an
occupational therapist evaluated sensory-motor skills.

Language Characteristics

On the Vocabulary Comprehension Scale. a measure of receptive knowledge

of pronouns, prepositions. and modifiers describing quality, size and quantity, M
at chronological age (CA) 6 yr, IO mo (6- IO), failed five items passed by 80% of
the 2-6 to 3-O yr-old children in the normative sample, with four of the errors
being on pronouns. Only two prepositions were in error, and both were
later-developing concepts (5 to 5-6 yr), though below her chronological age, as
were the three size concepts missed.
M’s score on the PPVT placed her below the 3rd percentile for her age, and
yielded a mental age of 3-8 when her CA was 6-10. This result was consonant
with numerous previous administrations of the PPVT.
 SPEECH AND LANGUAGE OF NOONAN SYNDROME 349

The spontaneous language sampling analysis was done twice, with a 7-mo
interval between samples. In both samples, M’s connected speech was frequently
unintelligible, or only partially intelligible, even when the topic was known. The
audio and video tapes were played repeatedly; only those utterances that were
agreed upon by two listeners were analyzed. This resulted in a smaller corpus
than is desirable, consisting of 58 utterances in the first sample and 7 1 utterances
in the second. These utterances were two or more morphemes in length, as
specified by Tyack and Gottsleben (1977) for their system of analysis. This
means that the one-word, one-morpheme utterances, which were few in number,
were not included when the Mean Morpheme Length of Utterance (MMLU)
was calculated.
There were very few differences between the collected samples even though
they were taken 7 mo apart; thus they will be discussed in combination, with note
made of the two differences that occurred. The biggest difference between the
two samples was in the MMLU obtained, and the difference was not in the
expected direction. The earlier sample yielded a MMLU fo 4.27 and a
Word-Morpheme Index of 4.16, while the second sample yielded a MMLU of
3.27 and a Word-Morpheme Index of 3.16. This discrepancy appears to be an
artifact caused by the small sample and the selective process of including for
analysis only those utterances that could be reliably transcribed.
In both samples, M frequently produced verb (V) + noun (N), N+ V+ N, and
N+ omitted copula + N/adjective constructions. She used the full range of
modifiers in the noun phrases, including demonstratives, quantifiers, posses-
sives, and adjectives. Her negative constructions included both correct construc-
tions using modals “Don’t” and “Won’t” and more immature forms such as
“Me no know that” and “Me no like it.” Only a few complex sentences were
attempted, predominantly infinitive complements in which the infinitive “to”
was omitted. Few questions were attempted; those few included “Who,”
“Where,” and “What” questions.
On the Form, or Morphological Level, M consistently substituted “me/l,” but
used appropriately other pronouns at her Linguistic Level. Of the prepositions,
“in” and “on” were mastered, but “to” was never present, although many
obligatory contexts were observed. The use of articles “a” and “the” was
inconsistent, while plurals, locatives, and conjunctions were present. Use of the
copula “is” was also inconsistent, but had improved slightly in the second
sample. The auxiliary “is” was always omitted, and “ing” was included
inconsistently. With the exception of a few irregular past tense verbs, no other
verb inflections were observed.
Semantic relationships were categorized using the chart developed by Bloom
and Lahey (1978, pp. 382-383). The relationships at the levels at which M
might be expected to function included Existence, Nonexistence, Recurrence,
350 MARGO WILSON and ALICE DYSON

Rejection, Denial, Attribution, Possession, Locative Action, Locative State,

Quantity, Notice, Time, Coordination, Causality, Dative, and Specifier. Only
Causality, Rejection, and Recurrence were absent from the samples. As always,
this omission is as likely due to the sampling situation as to any inability to
produce such utterances if the situation required them.
On the Pragmatic Level (Dore, 1974; Halliday, 1975), M used language to
label, give information, describe events. get her listener to do something, and to
express her intentions. She was not observed to use language for metalinguistic
purposes such as practicing, fantasy, jokes, or self-entertainment, except to
describe her “playing-house” activities, but, again, the opportunity for such
uses is not typically present in an assessment setting no matter how naturalistic
one attempts to make it.

Speech Characteristics

A phonological process analysis using the Assessment of Phonological

Processes (Hodson, 1980) was done on three occasions. There was a 4-mo
interval between the first and second sample and 5-mo between the second and
third. Additionally, the Natural Process Analysis (Shriberg and Kwaitkowski,
1980) was done on the third occasion.
The Assessment of Phonological Processes indicated essentially the same
patterns of production on all occasions, with some slight improvements on
second administration after a summer of phonologically based therapy. These
improvements had almost all disappeared, however, on the third administration.
M had been enrolled in a kindergarten program by that time and was not
receiving speech therapy.
Of the basic phonological processes reviewed, the most prevalent were
cluster reduction and stridency deletion. Cluster reduction consistently scored
above 100% because of the omission of some complete clusters. A few initial
clusters were noted after the summer therapy, but these have since disappeared.
A few strident phonemes (approximations of /s/) were also noted on second
testing, but on third testing the only strident phoneme produced was one instance
of a bilabial fricative. The most common strategy used for strident phonemes was
to produce a voiced, back, stop consonant /g/ in all word positions. It was
occasionally devoiced when it was word-final. This backing continued to be a
characteristic of her speech with 41 instances on first administration, 26 on
second. and 39 on third administration. She passed through a period of
palatalizing many alveolar phonemes but this was transitory.
No liquids were produced correctly. They were either omitted, glided, or
vowelized. Vowels were often neutralized and nasalized, especially when in the
environment of nasal consonants. The nasal consonant/n/ was usually backed. In
general, she avoided the alveolar place of articulation.
SPEECH AND LANGUAGE OF NOONAN SYNDROME 351

The Natural Process Analysis was administered to evaluate differences in

connected speech. The nasals, glides, labial and velar stops, and the /h/ were the
only phonemes produced correctly. No liquids, affricatives, or fricatives except
/h/ appeared in the sample of 108 words analyzed. Some final consonant
deletions occurred, but no consonant was always deleted in this position.
Stopping and cluster reduction were the two most common natural processes
noted. This analysis revealed the same pattern of backing, stopping, and voicing
strident sounds found on the Assessment of Phonological Processes.
At age 7 yr and 7 mo, M’s phonological system was obviously deviant. While
it was clearly systematic, it was unusual enough that it seriously interfered with
intelligibility. In fact, when the topic was not known it was often impossible to
understand either her words or her intent.

Other Assessments

An examination of M’s oral mechanism revealed a low, broad palatal vault.

Her velum was symmetrical and showed some movement, but closure could not
be visualized. She had many missing teeth. Her lower jaw was somewhat
retrusive, but she was able to close her lips with some protrusion of the upper lip.
She was able to move her tongue laterally but could not elevate the tip on
command. She was unable or unwilling to attempt rapid nonspeech movements
of the articulators.
The apraxia battery of De Renzi, Peicurzo, and Vignola as modified by
Kools et al. (1971) was administered. M was able to perform all movements,
with only two items requiring a demonstration.
An occupational therapy evaluation strongly suggested the presence of
moderate sensory integrative dysfunction. Tactile defensiveness, inadequate
tactile perception, and poorly integrated postural-ocular mechanisms appeared to
be contributing to apraxia or motor planning deficit. Visual perceptual deficit
was also noted.

Summary

This 7-yr, 7-mo-old female with Noonan syndrome displayed well-developed

communication despite a deviant phonological system, below-average com-
prehension of single words and spatial and temporal concepts, and expressive
morphological and syntactical skills well below the expected levels for her
chronological age. The few changes observed in the 9-mo period of observation
suggest that little improvement in speech and language is likely without direct
intervention.
352 MARGO WILSON and ALICE DYSON

References

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Halliday, M. A. K. (1975). Leurning How To Mrm: Exploration in the Development ofLanguu,qr.
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Hodson. B. (1980). Assessment of Phonologicul Processes. Danville. IL: Interstate.
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