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

CASE REPORT

Communication abilities in a case of Rett syndr...
84 G. C. Woodyatt and A. E. Ozanne
Expressive language skills post regression in children with RS show a wider range
of sk...
Communication in Rett syndrome 85
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Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)
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Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)

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Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)

  1. 1. 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 case study serves to provide a detailed description of the typical communication skills seen in this population, even though this child must be considered an atypical case of RS. The case study emphasizes the need for the assessment and treatment of communication skills in cases with RS to focus on the intentionality and functionality ol the child's communication. INTRODUCTION Rett syndrome (RS) (Rett, 1966) is a progressive neuromotor disease affecting only girls (Hagberg et al., 1983). Because of the absence of a biological marker, a set of diagnostic criteria for inclusion and exclusion for the disorder was established at the second Viennese symposium on Rett syndrome in 1984 (Hagberg et al., 1985). A revised set of diagnostic criteria was published in 1988 by the Rett Syndrome Diagnostic Criteria Work Group. Yet despite severely impaired receptive and expressive language being one of the essential criteria for the diagnosis of RS, tew published studies have focussed on the communication skills in this population. Many authors comment on the restricted speech and language skills in RS girls following regression which usually occurs between the ages of 1 and 4 years (Budden et al., 1988; Coleman et al, 1988; Lenn et al, 1986; Trevathan & Naidu, 1988; Zapella, 1986). However, contradictory reports exist in the literature relating to the development of words and phrases in RS clients prior to regression. Budden et al. (1988) recorded pre-regression development of both single words and phrases; while Kerr (1987) and Coleman et al. (1988) reported early development restricted to the single word level. However, Coleman et al (1988) noted single word development in only 24% of their subjects. The regression of cognitive skills to a level of severe-profound mental retardation would 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 level as measured on the Sequenced Inventory of Communication Development (SICD: Hedrick et al, 1975). Many of these subjects appeared to respond to parerital commands. Correspondence: A. E. Ozanne, Department of Speech and Hearing, The Umversity of Queensland, St Lucia 4072, Australia. S3
  2. 2. 84 G. C. Woodyatt and A. E. Ozanne Expressive language skills post regression in children with RS show a wider range of skills than observed in receptive language. Naidu et al. (1986) reported two nonverbal RS girls who uttered meaningful sentences when stressed or febrile. Another RS 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 be acquired 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 word used in Hagberg & Witt-Engerstrom's (1986) Stage III of the condition. However, the reports on expressive language skills in children with RS, have to date focussed on lists of the retained words or general statements on the presence or absence of words. There have been no detailed descriptions of the communicative functions of the utterances, nor their context and situational appropriateness. This is also true of the one study which specifically assessed communication skills in girls with RS (Budden et al., 1988). The communication skills were assessed using the SICD (Hedrick ei al., 1975). This assessment tool provided an age level equivalent of language skills; however, it did not describe the communicative competence of these children. Therefore, the communicative use of gesture, eye gaze, noises and touching observed in some of the cases described by Coieman et al. (1988) would not be 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 of the communication skills, with emphasis on the functional communication of a 4year-old girl with RS. Her communication skills are described within the context of her cognitive and motor skills, to provide clinicians who may not be familiar with the syndrome with a comprehensive account of the expected communication skills in this population. While the communication skills of this case are typical of girls with RS (Woodyatt & Ozanne, 1992), this particular subject must be classified as an atypical case as described by Hagberg et al. (1985) and Goutieres & Aicardi (1986) as there are two of the diagnostic criteria which she does not meet: (1) normal pre- and perinatal period as she was a premature delivery; and (2) her head circumference has not shown any deceleration. However, because she was premature, her mother, a trained speech-language pathologist, monitored her development, in particular her speech and language development, and so it is possible to provide a reliable report of the development, regression and current status of the communicative competence of this case. CASE HISTORY Birth history W.S. was born on 24 January 1985, the second of three children (two female and one male). There was no history of miscarriage. W.'s mother had used Clomid*'", an ovulatory 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. The attending physician 'searched' the uterus for the twin following delivery, but W. was a singleton birth. Mrs S. haemorrhaged large clots 2 months after W.'s birth, suggesting to Mrs S. that there may have been a twin.
  3. 3. Communication in Rett syndrome 85 For several weeks prior to W.'s delivery al the 25-5 weeks' gestation period, there was leaking of amniotic fluid. Following a 3-h labour during which W.'s mother had several injections to prevent contractions, W. was born, seemingly lifeless (her birth weight was 840 g). Later, Mrs S. was informed that W. was on a ventilator to see if she wouid 'survive the night'. W. remained in a humidicrib until her discharge 3 months later. Breathing had been difficult and resuscitation was necessary on several occasions. Jaundice was also present for some time. Development Foilowing her discharge, from hospital, W.'s development seemed normal for corrected age. Fine motor skills. At age 15 months, W. held toys and her drinking cup, turned pages of books and could pick up small objects. She was breast-fed till 19 months but could tlnger-feed herself on a variety of solid foods. Speech and language. Mrs S. reports a normal sequence of speech and language development for her corrected age, with reduplicated, then variegated babbling. Normal intonation patterns were noted. By 15 months, W. had a three-word vocabulary used appropriately, suggesting that W. was at the emerging locutionary level on McLean & Snyder-McLean's (1987) continuum of communicative acts (Table 1). Comprehension of language seemed normal for corrected age. W. could point to her nose and that of other family members; fetch familiar toys from another room; respond to 'give it to me', 'come here', 'show me', and 'stop'; point to named objects. Social interactions also seemed normal. Gesture and vocal behaviours were used intentionally to communicate. A variety of communicative functions were evident (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 unsupported at 11 months but never rolled or crawled, although she had achieved a 'bunny-hop' by 18 months. Regression Regression followed the stereotypic fashion. At 18 months, W. began to lose the purposeful use of her hands, the right losing function first. As a result of increasing parental concern, W. was assessed at a facility for children who are developmentally disabled. Reports from the psychological testing at 21 months indicate W. could still pick up toys but was mouthing most objects. Regression of cognitive skills was also noted. At21 months of age, W.'s developmental age was assessed to be 11 months on the Bayley Infant Scale of Development: Mental (Bayley, 1969). She was noted lo be socially withdrawn and only gave limited eye contact. Early failures on the Bayley Scale were in the imitation tasks, although speech pathologists at the same facility recorded that W. was still imitating vocal and motor patterns but not verbal. The
  4. 4. G. C. Woodyatt and A. E. Ozanne a o K H. > X 'P • o JJ "S p re C i2 S 'J. a s ?a III Mm 3 ^ 'S-— o K 3 a 5 ^ a a a 3 E c/ o o C C .^ .2P re - « U tj O ^ 00 t= 00 3 1. E • ^ £ E S^ 3 (^ 4..! a o p O 00 c 'S u u S 2 c li i — ... o E - 'en 11 .ti a II ,>. SI > ^ (U O ^ '5 G U • P > o ii 11 w -3 O G a _ u ? "« p a a 60 C S , « S c m a u a •V anii o eact u u o peo u C Ues 86 w O 4.^ * C O (-^ W C Q
  5. 5. Communication in Rett syndrome 62 §• c " re -a ^ JS ., bo B a 3 •3 t: u- 2 o w "re H, 5 M2 re re III ^ ta^ c re 10 3 r^ ^ ~ • 05- « O c C TJ C 'E „ ™ 3 C ? y .^ .JJ C 3 re 3 '^ 87) 0 cSH tin o •a a 3 < a- CO E o u a re o _r o i: c _ o ..:^ re ^ 1- •u u n 00 r - 'E3 t-i c <« c nil; •y H .. ^ y re S 0 S te .2 SJ OJ O t/; (J o re bO u B l-I re u u E ..g 3 -S o « 3 CO H J 8[7
  6. 6. 88 G. C. Woodyatt and A. E. Osanne speech and language assessments using the SICD (Hedrick el al., 1975) at the 21 months age indicated W.'s comprehension of language to be at the 12-month level as were her expressive language skills. Some bisyllabic consonant-vowel combinations were heard. Consonant sounds used were [d, p, g] and a fricative similar to /J/. She was noted to use tonal changes. Use of language at that time, as assessed on the McLean & Snyder-McLean Scale (by the present examiners) (see Table 1), would seem to indicate that W. had the remains of some contact illocutionary behaviours bui was primarily at the proactive perlocutionary stage. Parental and other reports indicate that W. was at Stage I-II of the disorder at 21 months (that is, between the eariy onset stagnation stage and the rapid destructive stage) (Hagberg & WittEngerstrom, 1986). At age 2 years 7 months, when re-assessed by the same facility for developmentally disabled children, W. could no longer pick up toys but could only 'bat' the presented items. Compulsive mouthing of the hands was present. Her developmental age on the Bayley Scale was at the 6-7 month level. She could no longer recognize the names of famihar objects. She babbled briefly at times but was noted to produce whisper-type noises 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 examiners that regression in communication skills at age 2 years 7 months was to the proactive perlocutionary level of communication (McLean & Snyder-McLean, 1987). The reports also indicate that W. was at Stage II, i.e. the rapid destructive stage of the disorder at this age (Hagberg & Witt-Engerstrom, 1986). During the period of regression, W. developed a selective auditory attention for sounds, both environmental and speech, although free field testing indicated normal hearing. Uncontrolled screaming would occur in response to crowded situations, certain noises and mealtimes. Disturbance of breathing patterns and hyperventilation were also noted at meal times as was hand-mouthing. Continued mouthing of the hands caused severe skin excoriation requiring arm splinting. Hand-wringing developed later. Vaso-motor symptoms were also noted with feet and legs always feeling cold to the touch. Mild seizure activity commenced at age 4 years 4 months. DIAGNOSIS A tentative diagnosis of RS was made at age 24 months following an EEG, bone marrow, blood and urine tests. All were normal. Skin fibroblasts were cultured to look at lysosomal enzymes but these were normal too. To date, no deceleration of occipito-frontal circumference has been noted although it has always been around the tenth percentile. A CT scan at 19 months indicated prominence of the lateral ventricles particularly the left posterior horn. The third and fourth ventricles appeared normal as did the supra cistern and other basal cisterns. No evidence of any lesion in the region of the foramen of Munro was noted. The prominence of the posterior horn of the lateral ventricles is consistent with a haemorrhage in the perinatal period but did not explain the regression of skills as described at that time.
  7. 7. Communication in Rett syndrotne 89 COMMUNICATIVE/SOCIAL BEHAVIOURS 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 of communicative 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 for objects. This tracking behaviour could only be elicited with her favourite toys. She could activate simple noise-making toys with open-handed movements. W. seemed not to respond to her name or other verbal input nor did she respond consistently to environmental noises, but her mother reported she could recognize and respond with pleasure to certain music. Communicative and Interactive Behaviours W. was usually silent during play and care-giving situations. No words have been retained, 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 laughing noises. Social interactions were inconsistently elicited; however, during such interactions W. maintained eye-gaze and close proximity, and would smile at her partner. j No communicatively intentional behaviours were observed by the examiner or reported by the parents or teachers, although such intents have been assumed by attendants and care-givers. Staring, touching and close proximity were interpreted as requests (for attention, social interaction, play interaction, affection or objects). W. would sometimes crawl to objects with which she wanted to play but at most other times would sit quietly gazing at her surroundings. She was observed on one occasion to vocalize at the sight of a cup held by her teacher. This vocalization was interpreted by the teacher as W. wanting a drink. When given the drink, she smiled and laughed as though pleased. During meal times, gaze aversion, head lowering and non-chewing of food were interpreted as refusal for those food items. W. would also spit out disliked foods. Gaze aversion was interpreted as the end of an activity or social interaction. Brief eye-contact and smile were interpreted as greeting behaviour. Anticipation was noted by body placement. Crying and a silent distressed expression were variously interpreted as signs of boredom, frustration, protest or discomfort, depending on the circumstances, while smiles and approach behaviour were interpreted as signs of pleasure. An open-handed batting was used inconsistently as an approach behaviour. W. occasionally used this behaviour to touch a partner and it was interpreted positively by her sister as a sign of liking somebody. However, it was noted that this same action was interpreted negatively by an attendant lifting W. from her standing frame. The lack of observed or reported intentional communication behaviour and the interpretation of her behaviours by her care-givers would place W.'s current
  8. 8. 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 be currently performing at the proactive perlocutionary level, where W. performs goaloriented motor acts to which others assign communicative intents (,see Table 1). Although W.'s gross and fine motor skills are limited, these motor difficulties are not considered to be interfering with any attempts at communication. Kerr (1987) noted extra-pyramidal motor involvement in children with RS. No extra-pyramidal signs were evident in W.'s oral musculature nor were any noted in her neurology report. W. showed no interest in communicating with others in her environment, although at times she showed interest in social interactions. DISCUSSION 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 for RS, she must be considered as an atypical case of RS, however, her behaviour, including her loss of intentional communication skills, is representative of that syndrome. While her prematurity, subsequent resuscitations and possible intracranial haemorrhage 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 normal limits for her corrected age prior to her period of regression. Other problems previously attributed to W.'s prematurity may on reflection be related to RS. The enlarged lateral ventricles with particular enlargement in the left posterior horn thought to be a resolved intraventricular haemorrhage may be attributable to mild hydrocephalus noted in several cases of RS (Jellinger & Seitelberger, 1986; Riederer ei al., 1986). Poor gross motor development and hypotonia have also been reported in girls with RS (Opitz & Lewin, 1987; Suzuki et al., 1986). However, it was the loss of intentional communication demonstrated in this case which typifies the regression of communication abilities seen in girls with RS. Prior to 15 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 intention to communicate that most hinders the functional communication in children with RS. Thus, any assessment of communication skills in girls with RS should include a measure of communicative intents as well as lists of words, sounds etc. that are retained. For if a RS case is performing at the perlocutionary level, then communication therapy must teach care-givers to recognize behaviours that may be interpreted as communicative; or if a signing system or communication board (Budden et al., 1988; Coleman ei al., 1988) is introduced, the concept of intentional communication must also be addressed otherwise the functional communication of the client will not change. Instead the client will only have a repertoire of signs, words
  9. 9. Communication in Rett syndrome 91 or a communication board that will not be utilized for the optimal potential by the client with RS. Therefore, the detailed description of the development, regression and current status in this case report of a 4-year-old girl with RS has shown that the loss of intentional communication is the factor that interferes most with the functional communication in children with RS and that this should be a major target for assessment and remediation of communication skills in this population. ACKNOWLEDGEMENTS The authors wish to thank W.'s parents, neurologist and school for information contained in this report. This study is supported by a grant from the Australian Research Council. REFERENCES Austin J.L. (1962) How to Do Things with Words. Oxford University Press, Oxford. Bates E. (1976) Language and Context. Academic Press, New York, NY. Bayiey N. (1969) Manual for the Bayiey Scales of Infant Development. Psychological Corporation, New York, NY. Budden S., Meek M. & Henighan C. (1988) Communication and oral-motor function in Relt syndrome. Paper presented at the 5th. International Symposium on Rett Syndrome, Vienna, Austria, November 1988. Coleman M., Brubakcr J., Hunter K. & Smith G. (1988) Rett syndrome: a survey of North American patients. Journal of Mental Deficiency Research 32, 117-24. Goutieres F. & Aicardi J. (1986) Atypical forms of Rett syndrome. Americanjournal of Medical Genetics 24, 183-94. Hagberg B., Aicardi J., Dias K. & Ramos O. (1983) A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Annals of Neurology 14, 471-9. Hagberg B, Goutieres F., Hanefield F., Rett A. & Wilson J. (1985) Rett syndrome: criteria for inclusion and exclusion. Brain Development 7, 372-3. Hagberg B. & Witt-Engerstrom I. (1986) Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. American Journal of Medical Genetics 24, 47-59. Hedrick D.L., Prather E.M. & Tobin A.R. (19751 Sequenced Inventory of Communication Development. The Riverside Publishing Co., Chicago, IL. | Jellinger K. & Scitelberger F. (1986) Neuropathology of Rett syndrome. American Jcmmal of Medical Genetics 24, 259-88. Kerr A.M. (1987) Report on the Rett syndrome workshop, Glasgow, Scotland, 24-25 Mlay 1986. Journal of Mental Deficiency Research 31, 93-113. Largo R.H., Molinari L., Comenale Pinto L., Weber M. & Due G. (1986) Language development of term and preterm children during the first five years of life. Developmental Medicine and Child Neurology 28, 333-50. Lenn N.J., Oisho L.W. & Turk W.R. (1986) Auditory processing deficit in a patient with Ri:tt ayndrome. American Journal of Medical Genetics 24,153-6. McLean J. & Snyder-McLean L. (1987) Form and function of communicative behaviour among persons with severe deveiopmental disabilities. Australian and New Zealand Journal of Development Disability 13, 83-98.
  10. 10. 92 G. C. Woodyatt and A. E. Ozanne Morales W.J. (1987) Effect of intra ventricular hemorrhage on one-year mental and neurologic handicaps of the very low birth weight infant. Obstetrics and Gynecology 70, 111-14. Naidu S., Murphy M., Moser H.W. & Rett A. (1986) Rett syndrome—natural history in 70 cases. Amertcan Joumal of Medical Genetics 24, 61-72. Opitz J.M. & Lewin S.O. (1987) Rett syndrome—a review and discussion of syndrome delineation and syndrome definition. Brain and Development 9, 445-50. Riederer P., Weiser M., Wichart I., Schmidt B., Sillian W. & Rett A. (1986) Preliminary brain autopsy findings in progradient Rett syndrome. American JoumaI of Medical Genettcs 24, 305-315. Rett A. (1966) Ueber ein eigen artiges hirnatrophisches syndrom bei hyperammonaemie im kindersalter. Weiner Medizinische Wochenschrift 116, 723-38. Suzuki H., Matsuzaka T., Hirayama Y., Sakuragawa N... Arima M... Tateno A.., Tojo M. & Suzuki Y. (1986) Rett's syndrome; progression of symptoms from infancy to childhood. Joumal of Child Neurology 1, 137-41. The Rett Syndrome Diagnostic Criteria Work Group (1988) Diagnostic criteria for Rett syndrome. Anrtals of Neurolo^ 23, 425-8. Trevathan E. & Naidu S. (1988) The clinical recognition and differential diagnosis of Rett syndrome. Joumal of Child Neurology 3 (suppl.), 517-20. Vohr B.R., Coll C.G. & Oh W. (1988) Language development of tow birthweight infants at two years. Developmental Medicine and Child Neurology 30, 608-15. Woodyatt G.C. & Ozanne A.E, (1992) Communication abilities in Rett syndrome. Joumal of Autism and Developmental Disorders, in press. Zapella M. (1986) Motivational conflicts in Rett syndrome. American Joumal of Medical Genetics 24, 143-151. Received 1 April 1990; revised 2 October 1991

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