speech disturbances (cluttering) in mildly impaired males with the martin-bell/fragile x syndrome
TRANSCRIPT
American Journal of Medical Genetics 23:195-206 (1986)
SPEECH DISTURBANCES (CLUTTERING) IN MILDLY IMPAIRED MALES WITH THE MARTIN-BELL/FRAGILE X SYNDRW
Donna M. Hanson, Alfred W. Jackson, 111, and Randi J. Hagerman
Sewall Rehabilitation Center; Children's Hospital, Department of Audiology & -ch and Child Development Unit; and University of Colorado, Health Sciences Center, Department of Pediatrics, Denver, Colorado
ABSTRACT
The language characteristics of fra(X) males (n = 10) with an IQ >/ 70 were evaluated. Lampage testirg demon- strated relatively stronger receptive vocabulary skills canpared to weak auditory memory and processing skills. A characteristic speech and language disturbance, cluttering, was present in 9 of the 10 study patients. Their speech ms characterized by a fast and fluctuating rate of speech, a d repetitions of sounds, wrds or phrases. Other aspects of cluttering including attentional problems, hyperactivity, motor delays and reading difficulties are comnly seen in the fra(X) syndrane. Cluttering may be helpful in identify- ing the fra(X) syndrome in a mle ~4-10 is not retarded.
Keywords: Wtin-Bell syndrome, fra(X) syndrcnne, speech and language, cluttering
Address reprint requests to Randi J. Hagem, M.D., The Child Developnent Unit, The Children's Hospital, 1056 East 19th Avenue, Denver, Colorado 80218.
0 1986 Alan R. Liss, Inc.
1% Hanson, Jackson, and Hagerman
INTRODUCTION
The Martin-Bell or fragile X [fra(X)] syndrome is most commonly associated with moderate to profound mental retardation in affected males. Havever, recently, we have reported on males with physical and cytogenetic characteris- tics of this syndrome who are mentally less severely impaired and vho are considered "learning disabled" [Hager- man et al, 19851. Diagnosis can be made difficult by a lack of retardation in the fra(X) male. Therefore, an evaluation of speech/language and behavior can help to identify the need for chromosome studies when evaluating a learning disabled child. The present study was undertaken to elucidate speech and language characteristics in higher IQ level fra(X) males.
Previous reports of language characteristics of fra(X) males are scarce. Turner et a1 [1980] described the unusual speech of retarded fra(X) males as "litany speech. It Howard-Peebles and Stoddard [1979] described a generalized language disability combined with articulation errors similar to those of patients with non-specific delay of development. Rosenberger et a1 [1982] reported on 2 moderately retarded fra(X) brothers with fluency disorders. The older boy showed a severe stutter and the younger demonstrated moderately severe clutter, echolalia, and minor articulation deficits.
Paul et a1 [ 19841 described dysfluencies combined with perseverative and echolalic speech in 3 fra(X) males. Newell et a1 [1983] studied speech a d language characteris- tics in 21 fra(X) males. Most of the study patients demonstrated an unusual speech pattern characterized by incomplete sentences and short bursts of 2 to 3-mrd phrases. Over 90% of males able to speak demonstrated dysfluencies or disruptions in their flow of speech includ- ing repetitions, inappropriate pauses, revisions and interjections.
This study is focused on the "cluttered" speech patterns of higher IQ-level fra(X) males. Clutterirg (tachyphemia) is a disability of 1-9 formation that is characterized by an increased rate of speech (tachylalia) and an erratic rhythm (dysrhythmia). Clutterers are frequently hyperactive and unaware of their excessive rate
Cluttering in Fra(X) Males 197
of speech. Additional problems, including garbled or slurred speech and disorganized speech are often seen [Weiss, 1964; Pitluk, 19821. Stuttering is a separate disorder from cluttering although mariy clutterers may also stutter [Freund, 19521. Cluttering is not associated with signs of tension, such as eye blinking or lip tremor, which are secondary manifestations of stuttering. Cluttering, unlike stuttering, m y have an organic basis [Perkins, 19171 and has been described in patients with multiple sclerosis [Molinari and Menken, 19771, brainstem infarct [DeFusco and Menken, 19791, EEG abnormalities [Luchsinger and Landolt, 1951; Grewel, 19701, motor problems and learniw disabili- ties [Tiger et al, 19801. Autosoml dominant inheritance of clutteriw has also been reported [Op't Hof ard Uys, 19141. miss [1964] has emphasized the genetic nature of cluttering but considers it a "verbal manifestation of central 1-ge imbalance," which affects all forms of communication including reading, writing and speaking.
SUBTECTS AND METHODS
F'rom 1981 to July 1985 over 80 males have been diagnos- ed at the Child Development Unit of The Children's Hospital in Denver. The study patients include all (n = 10) fra(X) males with an IQ >r 10. The results of IQ testing, cyto- genetic and physical examinations, family histories a& the age of the patients are summarized in Table I. The mean age of the patients was 6 3/12 years, and the mean IQ was 79. All of these boys previously had speech, language, and occupational therapy. Cytogenetic analysis was performed using a method outlined in detail elsewhere [McGavran am3 bhxwell, 19831.
In order to characterize the comunication skills of these patients, the following tests were administered. Receptive and oral vocabulary skills, grammatical ability, and short-term auditory memory ere assessed using the Test of Language Development-Primary (TOLD) [Newcomer and Hammill, 19821 and vocabulary was assessed with the Peabody Picture Vocabulary Test-Revised (PPVT) [Dunn and R u m , 19811. Articulation was evaluated using the Goldman-Fristoe Test of Articulation [Coldman and Fristoe, 19693. Speech fluency w a s noted during spontaneous language while engaged in conversation with the examiner, and/or during play
TABL
E I. General Characteristics of Higher IQ-level Fra(X) Males
Patient Y-M
Cyt
oqene t icsl
Physical Signs2
Family History
~syaqical3
e
1 3-0
22/100
Frontal bossing, high palate,
Mle maternal cousin has bR
and is
Y82
joint hyperextensibility
fra(X)+
2 3-8
13/100
Frontal bossirg, large e
ars
2 female cousins have LD4
Y93
3 4-7
28/100
Macroorchidism, large
ears
, Sister has LD and is fra(X)+
K88
4
5-6
7/100
Macroorchidism, large
ears
, Unremarkable
S70
heart
mur
mur
, joint
hyperextensibility
pec
tus excavatm
mother is fra(X)+, 3 maternal cousins have
5 5-6
13/50
Joint hyperextensibility,
Brother and sister have LD a
rd are fra(X)+
L83
and are fra(X)+, maternal aunt has MR
6
6-2
4/20
Macroorchidism, joint
Maternal uncle has MR
Y75
hyperextensibility, pectus
exca
vatm
, high palate,
frontal bossing
mitral valve prolapse
mother is fra(X)+, 3 maternal cousins
8-2
43/200
Joint hyperextensibility,
Brother ard sister have LD ard are fra(X)+
s73
have M
R an
d are fra(X)+, maternal amt h
as M?
8-3
26/100
High plate, large ears,
Adopted
S70
pectus excavatm, mitral
valve prolapse, joint
hyperextensibility
hyperextensibility
joint hyperextensibility
9
8-6
26/100
Macroorchidism, joint
Maternal uncle has M
R w84
10
8-10
2/200
Macroorchidism, high palate,
Maternal cousin has M? and is fra(X)+
K70
lResults of chromosane tests for the fra(X).
2The physical signs listed are those c
omno
uily
seen with the fragile X
syrd
rom
e.
3Results of psychological testing: Y=Yale Revised Developmental schedules, ~
=~
au
fma
n
Assessment Battery for
4UH,eaming disabilities
The numerator denotes the number of cells demonstrating the fra(X)
chranosome; the denaninator denotes the total number of cells examined.
Children, .%Stanford-Binet, L=Leiter International, W=Wechler Intelligence Scale for Children-Revised (WISC-R).
Cluttering in Fra(X) Males 199
activities with the examiner. The number of dysfluencies occurring in 100 utterances were counted. A n oral-periph- era1 examination v a s also done to assess fine motor control of the tongue, lips, palate, perioral muscles, and other speech-producing structures. The patients also received an apraxia battery to evaluate their ability to imitate single sounds, mrds, and their autanatic speech [Newell et al, 19831.
The presence of cluttering was evaluated in these patients using the 8 point criteria established by Pitluk [1982]. These are: 1) Fluctuations in rate of speech; 2 ) at least two repetitions per 100 words; 3) a history of articulation problems, or current misarticulations; 4) lover reading skills than appropriate for age;5) delayed develop- ment; 6) history of speech problems in at least one close relative; 7 ) a lack of awareness of the problem; 8) atten- tional problems. In addition to these 8 criteria, other characteristics were added to further analyze comer- sational skills in these patients. Oral motor planning difficulties , topic maintenance, revision behaviors and informational redundancy with or without perseverative speech behaviors were assessed carefully during language sampling.
RESULTS
-ge testirg scores demonstrate relatively stronger receptive vocabulary skills compared to weak auditory receptive memory ard processing skills. These latter two deficits were present in 9 of the 10 study ptients ard enhance the language problems of these patients, but they do not define the disorder of cluttering.
Table I1 summarizes the 8 point criteria in our study patients. All patients demonstrated at least 6 of the 8 criteria, with the exception of the youngest patient, 1, who has not yet developed sufficient language to manifest fluctuations in his rate of speech. Patients 1 through 4 are at a prereading level and therefore readirg abilities could not be evaluated. Only 4 of 10 patients had a history of speech problems in at least one close relative. The affected relatives also had the fra(X) syndrane.
TABL
E 11. Criteria Determined to be
Indicati-.-of Clutterinq
Patients
1 2
34
5
6 7
8 910
Fluctuations in rate of speech
n/a* +
+
+ +
+ +
++
+
Tbm
or more repetitions per 100 words
+ +
+ +
++
+ +
+ +
History of articulation problems or
++
++
+ +
+ +
++
Inadequate reading skills
n/a
n/a
n/a
n/a
+ +
+ +
+ +
Delayed developnent
+ +
+ +
++
+ +
++
History of speech problems in at least -
- +
- +
+ +
Lac
k of awareness of problem
n/a
+ +
++
+ +
f +
+
Poor attention or attending skills
++
++
+ +
+ +
++
misarticulations existing currently
- -
- one close relative
*n/a =
not applicable.
of their y
oung
age.
The
criteria could not be evaluated in these patients b
ecau
se
Cluttering in Fra(X) Males 201
Delayed developnent was seen in study patients in both language ard motor areas. Attentional problems are corrmon in fra(X) children arvl were present, with varying degrees of hyperactivity, in all patients.
The most prominent aspects of cluttering in the patients were their fast rate of speech with fluctuations in rate and repetitions in sounds, words or phrases. Patterns included "rapid bursts of speech" [Van Riper, 19221 to the point of slurrirg words and phrases, especially at the onset of a statement. Speech was also characterized by repeti- tions of syllables and words, interrupted by inappropriate pauses, but these were not found to occur at the initial part of a statement as is frequently seen in stuttering. Rather, these speech repetitions occurred randomly through- out an utterance.
Articulation errors or a history of misarticulations were comnon. Errors included sound substitution, omission, and frequent distortion of vowels, diphthongs, and conso- nants. Severe apraxia was not seen in the imitation of single sounds and monosyllabic mrds. Mild to moderate motor planning problems were seen in all patients when polysyllabic mrds were imitated.
Nine of 10 subjects were unaware of their cluttering. Each continued at a fast, slurred rate of speech and was unaware of their listener's difficulty at followirq the sequence of thought. Their lack of awareness could have been a manifestation of the deficient attentional abilities seen in all study patients. Standardized testing sho& the necessity for repetition of directions and stimulus items. Inadequate auditory processing canbined with attentional difficulties led to tangential thinking and deficient topic maintenance. Short-term memory skills were underdeveloped and word finding problems were frequent. Continued remind- ers and reinforcement were necessary for task completion.
A n analysis of discourse skills [Damico, 19811 (Table 111) of each fra(X) subject indicated r&c& topic mainte- nance as described above. Each individual made rapid a d inappropriate changes in a topic without providing transi- tional clues or cues to the listener. In a period of 2 minutes, Subject 10 changed his topic of conversation 14 times. One topic statement led to a followirq topic which
1------ 2
3 4
5
6
7 8
9---12
Ahsence of severe apraxia, speech
++
++
++
++
++
or oral motor coordination problems
Deficient topic
min
tena
nce
n/a
*+
4
+ +
+ +
+ +
+ Revision behaviors
n/
ac
+
+ +
+ +
+ +
+ In
fomt
iona
l re
dund
ancy
+
++
++
++
++
+
Perseverative speech behaviors
+t
++
++
++
++
*sam
e footnote as Table I1
Cluttering in Fra(X) Males 203
suggested a "cluttering" of his thought processes and difficulty concentrating on a topic for an appropriate period of time. Fxpressions of all subjects were blurted, erratic, and inadequately phrased, causing confusion ard difficulty for the listener attempting to follow the sequences and to establish comprehension.
"Revision behaviors" [Damico, 19811 were very c o m n in all males tested. Speech production was broken by numerous false starts or self-interruptions and these were not specific to any part of a _phrase or sentence. This char- acteristic was perhaps the most striking aspect of their speech formulation patterns. Each subject continued to revise or to improve what vas said, further suggesting difficulty in formulation, integration, and sequenciq of ideas. This resulted in an informational redundancy and perseverative speech pattern. Damico [ 19811 described "informationally redundant behavior" as the continued and inappropriate fixation on an idea. The speaker continues to stress a point or relate a fact even when the listener has acknowledged its reception.
DISCUSSION
All of the study patients evaluated met at least 4 of the 8 criteria for cluttering; this is considered diagnostic by Pitluk [1982]. Although the 8-point criteria are useful in a general way to identify children with the overall developental problems associated with cluttering, the use of only 4 of the criteria may not include the essentials of the language dysfunction in cluttering. For instance, our youngest patient, 1, meets 4 of the criteria, but does not have sufficient language to speak rapidly and dysfluently. However, he speaks with redundancy, perseveration and repetitions, which suggests that he will demonstrate more cluttering characteristics as he gains more language.
hk have included an analysis of discourse or conversa- tional skills in the patient evaluations because it further details language problems ~ i c h are associated with clutter- irg. All of the study patients demonstrated informational redundancy and perseverative speech behaviors in the discourse assessment (Table 111). In 8 of the 9 study patients that have acquired sufficient language, all of the
204 Hanson, Jackson, and Hagerman
discourse problems are seen, includim poor topic mainte- nance and revision behaviors. These problems, cmbined with a rapid, fluctuating rate of speech, form the essential speech ard language characteristics of cluttering.
More severely retarded fra(X) males are less likely to demonstrate cluttering because of the absence of substantial language skills. Moderately to severely retard& males may demonstrate similar isolated lamyage dysfunctions, such as perseveration, repetition and articulation deficits. Howwer, they typically do not have a rapid rate of speech with fluctuations and revisions of cmplex granrnatical structure which are necessary for a diagnosis of clutter- ing. Fra(X) males in general have developmental and behavioral problems including attentional difficulties with hyperactivity [Hageman et al, 1983; Fryns et al, 1984; H a g e m et al, 1985; Finelli et al, 1985; artl Hagerman et al, in press] and academic delays, include reading problems, motor incoordination, and sensory motor integration deficits [Hagem et a1 1983; Finelli et al, 19851. All of these problens are part of the averall diagnosis of cluttering and the fra(X) syndrane represents a subgroup of cluttering with a documented genetic basis.
The higher IQ-level fra(X) males m y be difficult to diqnose because of the lack of mental retardation. IQ's may range fran borderline to normal and physical traits such as macroorchidism may not be prominent in the preadolescent boy. We have fourd the language dysfunction of cluttering to be helpful in suggesting the diagnosis of fra(X). Our findings have shown that a rapidly fluctuating rate of speech canbined with revisions and reduced topic maintenance is seen in all of the high functioning fra(X) study patients. The answ=r as to whether this cluttering pattern is consistently diagnostic of the fra(X) syndrome in a child with global developnental delays and/or learning disabili- ties awaits further studies.
We thank Cindy Warren, Executive Director of %wall Rehabilitation Center for continued support ard encourage- ment, and Joan Gillis for her excellent secretarial skills.
Cluttering in Fra(X) Males 205
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Edited by John M. Opitz and James F. Reynolds
Received for publication August 23, 1985; revision received September 23, 1985.