References
Rack, E., Voiculescu, I., Rrunger. bl., Wolff, G .
(1989) ‘Familial ring (20) chromosomal
mosaicism.’ Hiitnoti Generics, 83, 148-154.
Rorgaonkar. D. S., I.acassie, Y. E.. Stoll, C . (1976)
‘Usefulness of chromosome catalog in delineating
new cyndromes.‘ Birih Defects, 12, 87-95.
Callen. D. F., Eyre. H. J.. Ringenbergs, M. l..,
Freemantle, C. J., Woodroffe. P., Haan, E. A.
(1991) ‘Chromosomal origin of small ring
chromosorncs in man: characterization by
molecular genetics.’ .4tnericatz Joitrnal o/IIutnan
Generics. 18, 769-782.
Fueta. Y., Mita. T., 5latsuoka. S. (1987)
‘Susceptibility of chimera mice to epileptic
convulsion.’ Sangyo Ika Daigaku Zusshi, 9, 1-7.
Gardiiier, R . 51. (1990) ‘Genes and epilepsy.’
Journal 01Medical Generics, 37. 537-534.
Gilman, S. (1992) ‘Advances in neurology.‘ New
England Joiirnol o/ illedicrne, 326, I67 I - 1676.
Kosttolanyi, G . . Mehes, K., Hook. E. B. (1991)

Ac qu i red ,Stutter i ng
after a Second

Stroke in a

Two-year-oId
Ruth Nass
Bea Sclireler
Linda Heier

Stuttering is a disorder which affects the
rhythms of speech, so that the speaker is
unable to articulate what he or she wants
to because of -an involuntary and
repetitive prolongation or cessation of a
sound (according to the International
Classification of Diseases, World Health
Organization 1977). Some degree of dysfluency is common as language skills evolve
during the preschool years, particularly as
mean length of utterance reaches six to
eight words between the ages of three and
four years. Unlike developmental
dysfluencies, however, stuttering may be
a rule-governed psycholinguistic disorder
(Wall and Meyers 1985, Aram et al.
1990). Stuttering occurs at linguistically
significant points in an utterance
(Goldman-Eisler 1968, Silverman 1972,
Gordon el al. 1986). It is seen more

m

‘Inherited ring chromosomes: a n analysis of
published cases.’ tlutnan Genetics. 87, 320-324.
Lehesjoki, A.-E.. Koskiniemi. 51.. Sistonen, P.,
hliao. J . , Hastbacka, J . . Norio. R.. de la
Chapelle, A. (1991) ‘1.ocalization of a gene for
progressive rnyoclonus epilcpsy to chromosome
2lq22.‘ Proceedings o/ the Narional Acadetny o/
Sciences. U S A . 88, 3696-3699.
lxppert, M., Anderson, V. E.. Quattlebaum. T . ,
Stauffer, D., O’Connell. P.. Nakamura. Y.,
1 alouel, J.-M., Whire, R. (1989) ‘Benign familial
neonatal conwltions linked to genetic markers on
chromosome 20.’ Nariire. 337, 647-648.
Schiniel, A . (1984) Catalogire o/ Unbolanced
C/trotnoso/ne A bzrrarion i n M a n . Herlin/New
YorC: de Gruyter. p. 675.
ii’ilson. M.G., Towner, J . W., Coffin. G. S. (19H1)
‘Genetic and clinical studies i n 13 patients with the
\\'elf-Hirschhorn syndrome.’ Human Generics.
59, 297-307.

z

P

frequently in children with developmental
disorders of speech and language
(Bloodstein 1974, Hall 1977, Blood and
Seider 1981, Merits-Patterson and Reed
1981, Nippold 1990). There is a genetic
predisposition (Kidd ef al. 1981) which, as
in dyslexia for example (Galaburda el al.
19851, could reflect subtle underlying
neuropathology. The cause of developmental stuttering is unknown. Anomalous
dominance and/or abnormalities of
interhemispheric connections are among
the main theories. As with the aphasias,
extrapolation about the ncuro-anatomical
basis of developmental childhood
stuttering may be possible from the
acquired disorder.
Acquired stuttering from brain injury is
relatively uncommon in adults and has
rarely been reported in children (Aram et
al. 1990, Meyers e f al. 1990), possibly
because the distinction between developmental stuttering and normal
developmental dysfluencies can be a
difficult one. We report a 27-month-old
girl with a transient acquired stutter
occurring in association with a presumed
second central nervous system insult.

Case report
At one year of age this previously healihy child, with

a vocabulary of a few words, developed a dense right
heniiparesis without apparent aphasia in association
with an infarction involving the left basal ganglia
and extending t o the cortex. Despite a thorough

73

0
v)

J

investigation, including angiography, no etiology
was found. A mild hemiparesis persisted, and
handedness shifted to the left (although there was no
family history of sinistrality). At 21 months, when
evaluated in a special nursery school by a speech
pathologist using the Preschool 1.anguage Scale
(Zimmerman er 01. 1979), speech and language were
reported to be normal. By 27 months she had a meail
length of utterance of four brords, but then she,
developed a marked stutter which affected mainly
(but not solely) the initial phoneme of words
throughout the sentence, and which lasted for seven
weeks. The number of repetitions was much greater
than would be seen with a typical development
dysnuency. No secondary mannerisms were noted.
Speech was hypophonic. No aphasia was apparent,
and the Preschool Language Scale was again ageappropriate. The stutter was noted by her nurseryschool teachers and considered serious enough for
her to be referred for speech therapy. The speech
pathologist at the nursery school noted that blocking
was excessively long for a typical developmental
dysfluency. According to her mother, the stutter
started and stopped rather abruptly. One week after
the stutter ceased, her Rayley Scale score was 1 1 3 .
Her EEG during the period of stuttering was
normal. As can be seen in Figures I to 3. M R I scans
obtained about five weeks into her course revealed
the previous infarction and also areas o f high signal
on the T2-weighted image in the periwntricular
white matter bilaterally. consistent with multiinfarction. (The putatively new white matter lesions
could conceivably have been missed by the earlier
CT scan. tlowever, the clear change in this child’s
clinical status supports our contention that the white
matter pathology was new. A delayed effect of an
earlier white matter insult is’also possible.) Further
investigations. with special emphasis on cardiac
(echocardiogram) and hematological (protein S.
protein C. antithrombin I l l ) status again revealed no
etiology for stroke.

Discussion

74

This child’s susceptibility to stuttering
after a second central nervous system
insult may be due to anomalous dominance. Rasmussen and Milner’s (1 977)
carotid amytal data suggest that this
child-because of her age, the location of
her lesion and current handedness-is
highly likely to have become righthemisphere language-dominant due to the
original left-hemisphere stroke. Her new
subcortical disease may have interfered
with already tenuous interhemispheric
connections.
Further reorganization
could have occurred over several weeks
and resulted in the resolution of her
stutter. The supposed abruptness of onset
and cessation are based entirely on
maternal report; her course may actually
have been more gradual and physiological, particularly for cessation.

h a m et of. (1990) assessed the speech
of children with unilateral acquired brain
injury for discontinuity (e.g. stuttered and
non-fluent speech hesitations) and rate
(e.g. the number of syllables spoken
per second of conversational speech).
Children with both acquired left- and
’ right-brain
injury produced more
stuttering-like non-fl uencies than controls.
Of the five patients with greater than 4 per
cent dysfluent speech, three had Ieft- and
‘two had right-sided lesions: but neither
the site nor the size of lesion predicted
dysfluent speech. However, children with
left-sided lesions had a slower speech rate
(syllables per second) than controls.
Neither lesion group produced a greater
number of normal non-fluencies than
controls. Only one of the 30 braindamaged children had a sufficient number
of non-fluencies to be classified as having
a stutter of mild to moderate severity.
This contrasts with the finding of
linguistic problems (albeit subtle) in
virtually all children with acquired lefthemisphere damage (Aram 1991). Meyers
el a/. (1990) reported the development of
stuttering during the course of language
recovery eight months after a lefthemisphere, predominantly subcortical,
stroke in a child aged seven years.
Aram et ol. (1990), reporting on the
rarity of dyslluency after early-acquired
unilateral brain injury, said that it was
inconsistent with the view that the
neurological basis of developmental
stuttering is the lack of dominanthemisphere control for synchronizing the
bilaterally innervated speech mechanisms
(Travis 1931, Orton 1937). The rarity of
stuttering in the child with acquired injury
could, however, be a reflection of aphasia
type and/or location of injury. Transient
stutter may be masked by the period of
overall aphasia-related non-fluency . As
with the age versus type of aphasia
argument, differen: types and different
locations of pathology in younger versus
older patients may have more to do with
the kind of aphasia seen (fluent versus
non-fluent) than the putative degree of
intrahemispheric specialization as related
to age (Eslinger and Damasio 1981).
Acquired stuttering in the adult is
reported after left, righ.! or bilateral
cortical injury (Helm ei a/. 1978,

m
m
I

P
a-

m

9

c

P

Fig. 1. Axial iniages ihrough level of basal ganglia (left) Spin echo (SE) shori TR/shori TE. (middle) S&
long TKlshorf TE (right) SE long TR/long TE A small linear hypo-infenstiy IS defected on shori TR
inia,ze in region o/ Ieji bosal ganglia (arrows) Corresponding hyperiniensiiy is seen on long TR images. as
well ac hyperin fensrfy int olviny: leff caudafe Appearance IT conrisfenr ictth an old stroke.

.
c

6

$

9

E

u

Q

Fig. 2. Axial images at level of
b0d.v o/ corpits callosunt. deft) SE
long TK/shori TE. (right) S& long
TR/Jong TE'. The Jong TR images
show hyperiniensiiy extending inio
coriex of lejf parietal lobe

lar r ow s) .

Fig. 3. (left): Spin echo long
TR/shorr TE axial rrnoge,
demonsiraiing hyperiniensiiy in
white maiier of cenirum semiovale
bilaierally. (right) Corresponding
spin echo long TR/long TE
image. dernonsiraiing same
lesions. They ore consisieni with
ischaemic change in whiie moiler.

75

UI
d
I
.
.

0

a

2

5

V

Rosenbek ef al. 1978, Horner and Massey *
1983, Fleet and Heilman 1985, Ardila and
Lopez 1986, Helm-Estabrook ef al. 1986.
Ludlow ef al. 1987). Acquired lesions in
adulthood have cured stuttering (Jones
1966, Helm-Estabrook ef a/. 1986), as
well as rekindled childhood stuttering
(Rosenbek ef al. 1978, Helm-Estabrook ef
al. 1986). Reorganization of language
lateralizat ion could underlie acquired
stuttering in these instances.
The finding oi an increased frequency
of left-handedness among people who
stutter (Dcllatolas et al. 1990) also
supports the theory that anomalous
dominance is a cause of stuttering,
because left-handed individuals may have
atypical language organization (see
Herron 1980 for review). Dichotic
listening patterns may be atypical in
people who stutter (Andrews ef 01. 1972.
Brady and Berson 1972, Rosenfield and
Goodglass 1980, Strub ef al. ‘1987). Strub
ef al. (1987) reported atypical planum’
temporale asymmetries in the siblings of
such individuals. Atypical planurn
asymmetries may be more common in
left-handed people (LeMay 1981, Witelson
1990, Steinmetz ef al. 1991). Callosal
morphology also differs in left- vs. righthanded people (Witelson 1989) and in
those with left- w. right-hemsiphere
language dominance (O’Kuscy ef al. 1988).
potentially resulting in additive effects of
anomalous dominance and atypical
interhemimheric connections
.
Subcortkal pathology both unilateral
and bilateral is also reported in acquired
stuttering in adults (Helm ef al. 1978.
R(XXnbek al*
Homer and Massey
1983, Fleet and Heilman 1985, Ardila and
Lopez 1986, Helm-Estabrook et a/. 1986,
Bhatnagar and Andy 1989)’Ludlow
(1987) found that the internal and
external capsules, the frontal white matter
19789

and the striatum were more frequently
damaged in the group with acquired
stuttering than in the other patients with
penetrating head injury. In this cohort
with penetrating head injury, stuttering
did not correlate with cortical pathology
of either hemisphere, but with unilateral
lesions of the pyramidal or extrapyramidal systems (Ludlow ef al. 1987).
Documentation of subcortical pathology supports the view that damage to
callosal pathways co-ordinating the
activity of both hemispheres during
speech may underlie stuttering (Soroker el
a/. f990). Several experimental psychological studies show that people who
stutter perform tasks requiring synchronous movements of the two hands
anomalously more often than controls
(Vaughn and Websrer 1989, Webster
1990); this is consistent with the position
that faulty interhemispheric, communication underlies stuttering.
Our patient’s original left-hemisphere
insult may have set the stage for transient
stuttering associated with the dcvelopmen1 of new white matter disease. As
such, her course provides a clue to the
underlying pathophysiology of the
individuaI with a developmental stutter.
Accepted /or publication 11th May 199.1.

A cknowledgertrenr

The authors thank an anonqnlous rcviewr for
his/hcr useful cornrncnts.
! < ~ ~ ~ r ~ ~ ~York
p Unlrersl,y
~ n ~ ‘Medical
~ e ~ ~ s
Center, N e w York
Hea Shrerer, ’kl A C C’ C ,
lnda tteler, I ) ,
N e w York Ilospital. Cornell Unncrsit) hlcdisal

~,

Center. New Yorh
‘Correspondence to first author at Department of
Pediatric Neurology, New York University Medlcal
center. JOO ~ a s 34th
t
Street. s e w York. N Y 10016.

USA.

SUMMA R Y
An almost two-year-old left-handed girl with a history of a left-hemisphere stroke at the age of one
year developed a transient stutter with newly acquired white matter infarctions. Her course suggests
that developmental stuttering may reflect anomalous dominance and/or atypical interhemispheric
connectivity.

RGSUMC
Begaiernenr acquis a p r b line seconde atraque chez une fillette de deux ans

76

Une fillette gauchere de p r h de deux ans. avec une anamnese dune attaque herniplegique gauche a
1’8ge d’un an, presenfa un begaiement transitoire a I’occasion d’infarcissements nouveaux de la
substance blanche. Son evolution suggtre qu’un begaiernent de developpernent peut traduire une
dominance anormale et/ou une connectivite interhernispherique typique.

ZUSAMMENFASSUNG
Erworbenes Slottern nach eineni zweiten Schlagan/oll hei einer Zweijahrigen
Ein fast zweijahriges linkshandiges Madchen, das im Alter von einern Jahr einen linksseitigen
Schlaganfall hatte, entwickelte durch weitere lnfarkte im Bereich der weiRen Substanz ein
vorubergehendes Stottern. Dieser Verlauf zeigt, daO das Stottern in der Entwicklung Ausdruck einer
nicht normalen Dorninanz undloder einer atypischen interhemispharischen Verknupfung sein kann.
RESU,MEN
Tartamudeo adquirido despues de un segundo ictus en una niaa de dos ailos de edad
Una nitla de casi dos aaos de edad. zurda. con una historia de un ictus en el hernisferio izquierdo al
aAo de edad, sufrio una tartamudez transitoria despues de un nuevo infarto d e substancia blanco. El
curso que siguio sugiere que el tartamudeo de desarrollo puede reflejar una dominancia anomala y/o
una conexion atipica interhemisferica
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Sarno. hl. (Ed.) Acquired Aphasia. Second
Edirion. New York: Academic Press.
- Meyers, S . , Ekelman, B. (1990) ‘Fluency of
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brain lesions.’ Brain and Language, 38, 105-122.
Blood, G., Seider. R. (1981) ‘The concomitant
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379-394.

Bhatnagar, S., Andy, 0. (1989) ‘Alleviation of
acquired stuttering \v,ith human centromedian
thalamic stimulation. Journal of Neurology,
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Brady, J., Berson, J. (1972) ‘Stuttering, dichotic
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Dellatolas, G.. Annesi, I., Jallon, P., Chavance,
M., Lellouch. J . (1990) ‘An epidemiological
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Eslinger. P.. Damasio, A. (1981) ‘Age and type of
aphasia in patients with stroke.’ Journal of
Neurology, Neurosurgery and Psychiarrj. 44,
377-381.

Fleet, W., Heilman, K. (1985) ‘Acquired stuttering
from a right hemisphere lesion in a right hander.
Neurology, 35, 1343- 1346.
Galaburda. A., Sherman, G.. Rosen. G. (1985)
‘Developmental dyslexia: four consecutive
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Goldman-Eider, F. (1968) Psycholinguistics: Experiments in Sponraneous Speech. New York:
Academic Press.
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Hall. P. (1977) ‘The occurrence of dysfluencies in
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Helm, N.. Butler. R.. Benson. D. F. (1978)
‘Acquired stuttering.’ Neuro/ogy, 28, 1159-1 165.
.Helm-Estabrook, N., Teo. R., Geschwind, N.,
Freeman, M., Weinstein. C. (1986) ‘Stuttering:
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Herron. J. (1980) Neuropsychology of Left
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Horner, J., Massey. E. (1983) ‘Progressive
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Merits-Patterson, R.. Reed, J. (1981) ‘Dysfluencies
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Journal of Speech and Hearing Research, 24,

z
m

I--

$
i
m
0‘

5

9

2

3

2
8
20
al

.-C

z5

-E-

\

FI

sB
?

B

55-58.

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The Spasmodic
Upper-body

Squeeze:a
Chalacter ist i c
Behavior in
Smith-Magenis
Syndrome
Brenda M . Finucane
Deborah Konar
Barbara Haas- Givler
Michael B. Kurtt
Charles I . Scott, Jr.

78

The advent of high-resolution cytogenetic
analysis has allowed the delineation of
small interstitial chromosome deletions
which formerly went unrecognized. Since
the first report of an interstitial deletion
of 17pl I .2 in 1982, a specific‘behavioral
and physical phenotype has emerged as
the Smith-Magenis syndrome (SMS)
(Smith et al. 1986, Greenberg er al. 1991).
Characteristic physical features include
brachycephaly (83 per cent), midface
hypoplasia (94 per cent), ear malformations (68 per cent) and brachydactyly (81
per cent). Mental impairment is generally
moderate. Behaviorally, these patients
often pose severe management problems
due to aggressive and self-mutilatory
symptoms (70 per cent). Greenberg

Witelson, S. (1989) ‘Hand and sex differences in the
isthmus and genu of the corpus callosum.’ Brain.
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- (1990) ‘Neuroanatomic asymmetries: a review.’
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Statistical
Classi/icatioti of
Diseases. Itiiuries orid Causes of Death. Geneva:
WHO, p. 202.
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Psychological Corp.

e1 al. (1991) described onychotillomania
(pulling out of fingernails and toenails)
and polyembolokoilamania (insertion of
foreign objects into various bodily
orifices). Head-banging and hand-biting,
along with severe sleep disturbance (51
per cent); are other common findings
(Colley et al. 1990, Greenberg et al. 1991).
Over a two-year period, we have
identified 11 patients with deletion
1 7 ~ 1 1 . 2 through the genetics service
at an educational and vocational center
for people with mental retardation.
Ascertainment of people with SMs was
based on a survey at our facility of current
and former clients with severe selfinjurious and aggressive behaviors,
and/or characteristic physical findings.
On diagnosis, it became evident that
several patients with SMS manifested an
unusual hand- or arm-clasping behavior,
particularly as an expression of happiness
or excitement. Years before their
diagnosis, teachers at our center had
referred four of these patients for genetic
evaluation based on their behavioral
similarities, particularly with regard to
‘self-hugging’. No specific diagnosis had
been reached at that time. When one
of the self-hugging children was subsequently diagnosed with SMS, the other
three were re-evaluated and also found to
have deletion 1 7 ~ 1 1 . 2 .

Patients
Of 11 patients with SMS, seven were
female and four were male; they were
aged between seven and 51 (mean 24).
All patients had deletion 1 7 ~ 1 1 . 2
documented in peripheral blood and/or
skin fibroblasts. No patient had a seizure