Journal of Intellectual Disability Research, 1992, 36, 83-92

CASE REPORT

Communication abilities in a case of Rett syndrome

G. C. WOODYATT AND A. E. OZANNE

Department of Speech and Hearing, The University of Queensland, St Lucia, Australia

ABSTRACT. The conununicalion skills in a 4-year-oid girl with RcU syndrome (RS)prior to, during and after the characteristic regression period are presented. The casestudy serves to provide a detailed description of the typical communication skills seen inthis population, even though this child must be considered an atypical case of RS. Thecase study emphasizes the need for the assessment and treatment of communicationskills in cases with RS to focus on the intentionality and functionality ol the child'scommunication.

I N T R O D U C T I O N

Rett syndrome (RS) (Rett, 1966) is a progressive neuromotor disease affecting onlygirls (Hagberg et al., 1983). Because of the absence of a biological marker, a set ofdiagnostic criteria for inclusion and exclusion for the disorder was established at thesecond Viennese symposium on Rett syndrome in 1984 (Hagberg et al., 1985). Arevised set of diagnostic criteria was published in 1988 by the Rett SyndromeDiagnostic Criteria Work Group. Yet despite severely impaired receptive andexpressive language being one of the essential criteria for the diagnosis of RS, tewpublished studies have focussed on the communication skills in this population.

Many authors comment on the restricted speech and language skills in RS girlsfollowing regression which usually occurs between the ages of 1 and 4 years (Buddenet al., 1988; Coleman et al, 1988; Lenn et al, 1986; Trevathan & Naidu, 1988;Zapella, 1986). However, contradictory reports exist in the literature relating to thedevelopment of words and phrases in RS clients prior to regression. Budden et al.(1988) recorded pre-regression development of both single words and phrases; whileKerr (1987) and Coleman et al. (1988) reported early development restricted to thesingle word level. However, Coleman et al (1988) noted single word development inonly 24% of their subjects.

The regression of cognitive skills to a level of severe-profound mental retardationwould imply a severe receptive language disorder in girls with RS. Budden et al.(1988) did report regression in comprehension of language skills to an 8-month levelas measured on the Sequenced Inventory of Communication Development (SICD:Hedrick et al, 1975). Many of these subjects appeared to respond to pareritalcommands.

Correspondence: A. E. Ozanne, Department of Speech and Hearing, The Umversity of Queensland,St Lucia 4072, Australia.

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84 G. C. Woodyatt and A. E. Ozanne

Expressive language skills post regression in children with RS show a wider rangeof skills than observed in receptive language. Naidu et al. (1986) reported two non-verbal RS girls who uttered meaningful sentences when stressed or febrile. AnotherRS case reported by Zapelia (1986) used short sentences of three or four words.Typically, however, after the onset of the regression period, no new words seem to beacquired and those retained are used infrequently or gradually lost (Naidu et al., 1986;Zapelia, 1986). Budden et al. (1988) reported 'mama' lo be a typically retained wordused in Hagberg & Witt-Engerstrom's (1986) Stage III of the condition.

However, the reports on expressive language skills in children with RS, have todate focussed on lists of the retained words or general statements on the presence orabsence of words. There have been no detailed descriptions of the communicativefunctions of the utterances, nor their context and situational appropriateness.

This is also true of the one study which specifically assessed communication skillsin girls with RS (Budden et al., 1988). The communication skills were assessed usingthe SICD (Hedrick ei al., 1975). This assessment tool provided an age level equivalentof language skills; however, it did not describe the communicative competence ofthese children. Therefore, the communicative use of gesture, eye gaze, noises andtouching observed in some of the cases described by Coieman et al. (1988) would notbe recorded, yet are the major form of communication seen in children with RS.Therefore, this paper aims through a case report to provide a detailed description ofthe communication skills, with emphasis on the functional communication of a 4-year-old girl with RS. Her communication skills are described within the context ofher cognitive and motor skills, to provide clinicians who may not be familiar with thesyndrome with a comprehensive account of the expected communication skills in thispopulation. While the communication skills of this case are typical of girls with RS(Woodyatt & Ozanne, 1992), this particular subject must be classified as anatypical case as described by Hagberg et al. (1985) and Goutieres & Aicardi (1986) asthere are two of the diagnostic criteria which she does not meet: (1) normal pre- andperinatal period as she was a premature delivery; and (2) her head circumference hasnot shown any deceleration. However, because she was premature, her mother, atrained speech-language pathologist, monitored her development, in particular herspeech and language development, and so it is possible to provide a reliable report ofthe development, regression and current status of the communicative competence ofthis case.

CASE H I S T O R Y

Birth history

W.S. was born on 24 January 1985, the second of three children (two female and onemale). There was no history of miscarriage. W.'s mother had used Clomid*'", anovulatory stimulating drug, for both W. and the older sibling. During the pregnancy,twins were suspected because of the mother's size and from scan results. Theattending physician 'searched' the uterus for the twin following delivery, but W. was asingleton birth. Mrs S. haemorrhaged large clots 2 months after W.'s birth,suggesting to Mrs S. that there may have been a twin.

Communication in Rett syndrome 85

For several weeks prior to W.'s delivery al the 25-5 weeks' gestation period, therewas leaking of amniotic fluid. Following a 3-h labour during which W.'s mother hadseveral injections to prevent contractions, W. was born, seemingly lifeless (her birthweight was 840 g). Later, Mrs S. was informed that W. was on a ventilator to see ifshe wouid 'survive the night'. W. remained in a humidicrib until her discharge3 months later. Breathing had been difficult and resuscitation was necessary onseveral occasions. Jaundice was also present for some time.

Development

Foilowing her discharge, from hospital, W.'s development seemed normal forcorrected age.

Fine motor skills. At age 15 months, W. held toys and her drinking cup, turned pagesof books and could pick up small objects. She was breast-fed till 19 months but couldtlnger-feed herself on a variety of solid foods.

Speech and language. Mrs S. reports a normal sequence of speech and languagedevelopment for her corrected age, with reduplicated, then variegated babbling.Normal intonation patterns were noted. By 15 months, W. had a three-wordvocabulary used appropriately, suggesting that W. was at the emerging locutionarylevel on McLean & Snyder-McLean's (1987) continuum of communicative acts(Table 1). Comprehension of language seemed normal for corrected age. W. couldpoint to her nose and that of other family members; fetch familiar toys from anotherroom; respond to 'give it to me', 'come here', 'show me', and 'stop'; point to namedobjects. Social interactions also seemed normal. Gesture and vocal behaviours wereused intentionally to communicate. A variety of communicative functions wereevident (e.g. greeting, requesting, protesting, acknowledging and answering).

Gross motor development. This was one area where slowed development was a concern.Generalized hypotonia has been a persistent symptom since birth. W. sat unsupportedat 11 months but never rolled or crawled, although she had achieved a 'bunny-hop' by18 months.

Regression

Regression followed the stereotypic fashion. At 18 months, W. began to lose thepurposeful use of her hands, the right losing function first. As a result of increasingparental concern, W. was assessed at a facility for children who are developmentallydisabled. Reports from the psychological testing at 21 months indicate W. could stillpick up toys but was mouthing most objects. Regression of cognitive skills was alsonoted. At21 months of age, W.'s developmental age was assessed to be 11 months onthe Bayley Infant Scale of Development: Mental (Bayley, 1969). She was noted lo besocially withdrawn and only gave limited eye contact. Early failures on the BayleyScale were in the imitation tasks, although speech pathologists at the same facilityrecorded that W. was still imitating vocal and motor patterns but not verbal. The

86 G. C. Woodyatt and A. E. Ozanne

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speech and language assessments using the SICD (Hedrick el al., 1975) at the 21months age indicated W.'s comprehension of language to be at the 12-month level aswere her expressive language skills. Some bisyllabic consonant-vowel combinationswere heard. Consonant sounds used were [d, p, g] and a fricative similar to /J/. Shewas noted to use tonal changes. Use of language at that time, as assessed on theMcLean & Snyder-McLean Scale (by the present examiners) (see Table 1), wouldseem to indicate that W. had the remains of some contact illocutionary behaviours buiwas primarily at the proactive perlocutionary stage. Parental and other reportsindicate that W. was at Stage I-II of the disorder at 21 months (that is, between theeariy onset stagnation stage and the rapid destructive stage) (Hagberg & Witt-Engerstrom, 1986).

At age 2 years 7 months, when re-assessed by the same facility for developmentallydisabled children, W. could no longer pick up toys but could only 'bat' the presenteditems. Compulsive mouthing of the hands was present. Her developmental age on theBayley Scale was at the 6-7 month level. She could no longer recognize the names offamihar objects. She babbled briefly at times but was noted to produce whisper-typenoises and grunts. Although not showing much interest in people, she was observed tt)give good eye contact to her mother. The reports suggested to the present examinersthat regression in communication skills at age 2 years 7 months was to the proactiveperlocutionary level of communication (McLean & Snyder-McLean, 1987). Thereports also indicate that W. was at Stage II, i.e. the rapid destructive stage of thedisorder at this age (Hagberg & Witt-Engerstrom, 1986). During the period ofregression, W. developed a selective auditory attention for sounds, both environ-mental and speech, although free field testing indicated normal hearing. Uncontrolledscreaming would occur in response to crowded situations, certain noises and meal-times. Disturbance of breathing patterns and hyperventilation were also noted at mealtimes as was hand-mouthing. Continued mouthing of the hands caused severe skinexcoriation requiring arm splinting. Hand-wringing developed later. Vaso-motorsymptoms were also noted with feet and legs always feeling cold to the touch. Mildseizure activity commenced at age 4 years 4 months.

D I A G N O S I S

A tentative diagnosis of RS was made at age 24 months following an EEG, bonemarrow, blood and urine tests. All were normal. Skin fibroblasts were cultured tolook at lysosomal enzymes but these were normal too. To date, no deceleration ofoccipito-frontal circumference has been noted although it has always been around thetenth percentile. A CT scan at 19 months indicated prominence of the lateralventricles particularly the left posterior horn. The third and fourth ventriclesappeared normal as did the supra cistern and other basal cisterns. No evidence ofany lesion in the region of the foramen of Munro was noted. The prominence ofthe posterior horn of the lateral ventricles is consistent with a haemorrhage inthe perinatal period but did not explain the regression of skills as described at thattime.

Communication in Rett syndrotne 89

C O M M U N I C A T I V E / S O C I A L B E H A V I O U R S

W.S. was assessed at age 4 years by the present examiners. She was in Stage III, i.e.the pseudo stationary stage of the syndrome (Hagberg & Witt-Engerstrom, 1986).Numerous observational sessions were required to obtain an adequate description ofcommunicative and social behaviours due to her inconsistent performance.

Cognitive/Comprehension Skills

W. related equally to objects and people. She would visually track but not search forobjects. This tracking behaviour could only be elicited with her favourite toys. Shecould activate simple noise-making toys with open-handed movements. W. seemednot to respond to her name or other verbal input nor did she respond consistently toenvironmental noises, but her mother reported she could recognize and respond withpleasure to certain music.

Communicative and Interactive Behaviours

W. was usually silent during play and care-giving situations. No words have beenretained, although a non-directed [bA] was heard once during a care-giving situation.Vocahzations usually consisted of [a], in addition to quiet crying and/or laughingnoises. Social interactions were inconsistently elicited; however, during suchinteractions W. maintained eye-gaze and close proximity, and would smile at herpartner. j

No communicatively intentional behaviours were observed by the examiner orreported by the parents or teachers, although such intents have been assumed byattendants and care-givers. Staring, touching and close proximity were interpreted asrequests (for attention, social interaction, play interaction, affection or objects). W.would sometimes crawl to objects with which she wanted to play but at most othertimes would sit quietly gazing at her surroundings. She was observed on one occasionto vocalize at the sight of a cup held by her teacher. This vocalization was interpretedby the teacher as W. wanting a drink. When given the drink, she smiled and laughedas though pleased. During meal times, gaze aversion, head lowering and non-chewingof food were interpreted as refusal for those food items. W. would also spit outdisliked foods. Gaze aversion was interpreted as the end of an activity or socialinteraction. Brief eye-contact and smile were interpreted as greeting behaviour.Anticipation was noted by body placement. Crying and a silent distressed expressionwere variously interpreted as signs of boredom, frustration, protest or discomfort,depending on the circumstances, while smiles and approach behaviour wereinterpreted as signs of pleasure. An open-handed batting was used inconsistently as anapproach behaviour. W. occasionally used this behaviour to touch a partner and it wasinterpreted positively by her sister as a sign of liking somebody. However, it wasnoted that this same action was interpreted negatively by an attendant lifting W. fromher standing frame.

The lack of observed or reported intentional communication behaviour and theinterpretation of her behaviours by her care-givers would place W.'s current

90 G. C. Woodyatt and A. E. Ozanne

communication skills at a perlocutionary level of functioning. Using the McLean &Snyder-McLean (1987) cumulative continuum of communicative acts, W. would becurrently performing at the proactive perlocutionary level, where W. performs goal-oriented motor acts to which others assign communicative intents (,see Table 1).

Although W.'s gross and fine motor skills are limited, these motor difficulties arenot considered to be interfering with any attempts at communication. Kerr (1987)noted extra-pyramidal motor involvement in children with RS. No extra-pyramidalsigns were evident in W.'s oral musculature nor were any noted in her neurologyreport. W. showed no interest in communicating with others in her environment,although at times she showed interest in social interactions.

D I S C U S S I O N

The present case report has described the communicative abilities of a 4-year-old girl(W.S.) presenting with RS. As W. does not meet two of the diagnostic criteria forRS, she must be considered as an atypical case of RS, however, her behaviour,including her loss of intentional communication skills, is representative of thatsyndrome.

While her prematurity, subsequent resuscitations and possible intracranial hae-morrhage placed her 'at risk' for a communication disorder or delay {Largo el al.,1986; Morales, 1987; Vohr el al., 1988) her communication skills were within normallimits for her corrected age prior to her period of regression.

Other problems previously attributed to W.'s prematurity may on reflection berelated to RS. The enlarged lateral ventricles with particular enlargement in the leftposterior horn thought to be a resolved intraventricular haemorrhage may beattributable to mild hydrocephalus noted in several cases of RS (Jellinger &Seitelberger, 1986; Riederer ei al., 1986). Poor gross motor development andhypotonia have also been reported in girls with RS (Opitz & Lewin, 1987; Suzukiet al., 1986).

However, it was the loss of intentional communication demonstrated in this casewhich typifies the regression of communication abilities seen in girls with RS. Prior to15 months, W. was performing at the emerging locutionary level on McLean &Snyder-McLean's (1987) continuum of communicative acts (See Table 1); however,she has now regressed to the level of proactive perlocutionary.

It is the loss of the ability to use gestures, vocalizations and words with an intentionto communicate that most hinders the functional communication in children with RS.Thus, any assessment of communication skills in girls with RS should include ameasure of communicative intents as well as lists of words, sounds etc. that areretained. For if a RS case is performing at the perlocutionary level, thencommunication therapy must teach care-givers to recognize behaviours that may beinterpreted as communicative; or if a signing system or communication board(Budden et al., 1988; Coleman ei al., 1988) is introduced, the concept of intentionalcommunication must also be addressed otherwise the functional communication ofthe client will not change. Instead the client will only have a repertoire of signs, words

Communication in Rett syndrome 91

or a communication board that will not be utilized for the optimal potential by theclient with RS.

Therefore, the detailed description of the development, regression and currentstatus in this case report of a 4-year-old girl with RS has shown that the loss ofintentional communication is the factor that interferes most with the functionalcommunication in children with RS and that this should be a major target forassessment and remediation of communication skills in this population.

A C K N O W L E D G E M E N T S

The authors wish to thank W.'s parents, neurologist and school for informationcontained in this report. This study is supported by a grant from the AustralianResearch Council.

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Received 1 April 1990; revised 2 October 1991