1.2.5.1 Cognitive abilities in RS
The case reports of females with RS contain phrases such as “profound and uniform dementia", “obviously retarded" and “profoundly mentally retarded" to describe the level of intellectual ability in individuals with RS. A number of studies have systematically assessed the cognitive abilities in individuals with RS and have confirmed these descriptions to be accurate. These systematic studies have used a variety of different measures to assess cognitive abilities. Although the level of functioning reported varies between the different studies, it is possible to conclude that females with RS suffer from severe to profound learning disabilities. To follow is a brief summary of evidence for this finding.
The cognitive abilities of individuals with RS have been measured by assessing their level according to sensorimotor development in line with the developmental categories described by Piaget. These studies involved direct assessments of the sensorimotor level in a total of 52 different RS individuals (Fontanesi & Haas, 1988; Garber & Veydt, 1990; Olsson & Rett, 1987; Woodyatt & Ozanne, 1992a; Woodyatt & Ozanne, 1993; Woodyatt & Ozanne, 1994). The highest level reported to be achieved by any of the individuals was level IV sensorimotor development. None of the individuals were found to have reached level V sensorimotor development. Level IV sensorimotor development is normally seen between 8 and 12 months of age. During level IV, infants are able to combine actions to solve simple problems. After gradually accommodating a crude initial attempt at imitation, they eventually imitate novel responses. Infants also show their first understanding of object permanence, that is, they search for and find concealed objects that have not been visually displaced. Level V sensorimotor development is normally seen between 12 and 18 months of age. During level IV, infants experiment to find new ways to solve problems or reproduce interesting outcomes. Systematic imitation of novel responses is seen with deferred imitation of simple motor acts. The infant is also seen to
search for and find objects that have been visually displaced. (Information on sensorimotor stages has been taken from Shaffer (1993)). Thus, the results from the assessments of RS individuals indicate that, at the highest level, they were functioning around, or below 12 months of age. The age of the RS individuals in the studies ranged from one up to 23 years.
Further evidence for severe deficits in functioning comes from studies employing the Vineland Adaptive Behavior Scales (VABS; Sparrow, Balia, & Cicchetti, 1984). The VABS are administered via a parental interview and produce age equivalents for a number of skill areas. Perry, Sarlo McGarvey, and Haddad (1991) found the communication skills of 28 females with RS aged between 2 and 19 years ranged from 5 to 28 months (mean, 17.4 months). Daily living skills ranged from 4 to 34 months (mean, 16.9 months) and socialisation skills ranged from 14 up to 36 months (mean, 25 months). Fontanesi and Haas (1988) reported the average age equivalents for the Vineland sub-scales for 18 individuals aged between 2.5 and 23 years. On average, receptive language ability was found to be at 7.5 months, expressive skills were at 7 months, daily living skills were slightly higher at an average of 13.5 months. Interpersonal skills were found to be at an average of 8 months, play was at 6 months and social skills were at 9 months. On average, gross motor skills were found to be at 12 months and fine motor skills at five months. The highest average level of skill obtained on the Vineland for individuals with RS across both studies was 25 months for socialisation skills again indicating severe deficits in this population.
A number of other standardised tests have been employed to assess cognitive abilities in RS. Perry et al. (1991) used the Catell Infant Intelligent scale (Cattell, 1940) to obtain a mental age for 15 RS females aged between two and 19 years. The cognitive level assessed by the Catell was uniformly below 8 months, with an average of 3 months. Using a modified Bayley exam, Watson, Umansky, Marcy, and Repacholi (1996) determined one 36 month old’s mental age to be between 5-6 months. Prior to a single case intervention study Sullivan, Laverick, and Lewis (1995) found that at age
three years, cognitive, communication and self-help skills were all between the fifth and seven month level on a range of standardised assessments (Bayley, Reel and Minnesota Scales, respectively). In an intervention study aimed at evaluating the ability of individuals with RS to make choices, Sigafoos, Laurie, and Pennell (1995) assessed the level of adaptive behaviour in seven RS individuals. Neither the chronological nor the developmental age of these individuals is provided but the standard scores on the Topeka Association for Retarded Citizens Assessment Inventory for Severely Handicapped Children (Sailor & Mix, 1975) fell more than one standard deviation below the mean when compared to other children with severe handicaps.
The standardised assessments of cognitive abilities discussed thus far invariably rely on the individuals being tested to demonstrate some hand skills (e.g., stacking blocks, reaching for objects). Individuals with RS have limited hand skills (see section 1.2.3.5.) This limitation in hand skill may result in an underestimation of cognitive abilities in this population when standardised assessments of cognitive abilities are used, von Tetzchner et al. (1996) attempted to overcome this difficulty by employing a testing procedure which doesn’t require hand skills. They assessed the ability of 42 girls and women with RS age between 2.5 and 46 years, to remember and process visually present material using the Fagan test of Infant Intelligence (Fagan, 1990). This is a paired comparison test of visual recognition memory. The performance of the individuals with RS was compared to that of a group of normally developing, age matched controls. Scores on the Fagan tests are reported by von Tetzchner et al. (1996) not to have age equivalents. Therefore, although the individuals with RS were found to be performing significantly worse than the controls, it is difficult to determine exactly what this implies for the level of functioning in the RS group. Although this study employed a procedure which could provide insight into the cognitive abilities of individuals with RS regardless of their level of hand skill, the choice of age matched controls and lack of age equivalent scores makes it impossible to draw any conclusions.
Although one study reported individuals with RS to be functioning as high as 36 months, the majority of individuals tested with standardised tests of cognitive ability have been found to be functioning around or below 18 months regardless of their age at testing. This indicates severe to profound learning disabilities in this population. This low level of cognitive ability is likely to have an impact upon the communicative abilities of females with RS.
1.2.5.2 Communicative abilities in RS
There has been little systematic research describing the communicative competence of individuals with RS. The work that has been conducted has reported very low communicative ability in line with the cognitive profile described in the literature. For example, Budden et al. (1990) assessed the communicative ability of 20 females with RS aged between three and 19 years of age. Communication ability was assessed using the Early Language Milestones Scale (Coplan, 1983), a parental questionnaire, and the parent- interview portions of the Sequenced inventory of Communicative Development (Hedrick et al., 1975). The communication skills of the group ranged from four months up to a maximum of 12 months.
A good proportion of the work on post-regression communication abilities in RS has been conducted by Woodyatt and Ozanne in Australia (Woodyatt & Ozanne, 1992a; Woodyatt & Ozanne, 1992b; Woodyatt & Ozanne, 1993; Woodyatt & Ozanne, 1994; Woodyatt & Ozanne, 1997). Their largest study, which included cases from their previous work, provided data from the systematic assessment of six females aged two and 13 years (Woodyatt & Ozanne, 1992a). Communication abilities were assessed through a number of observation sessions where the individuals’ interaction behaviours were coded for their communicative intent. These coded interaction behaviours were used to classify each individual’s communicative level according to the Cumulative Continuum of Acts (McLean & Snyder-McLean, 1987). In addition to the assessment, parents and teachers of the six individuals were interviewed for details on any interactions and communicative behaviours. At
the time of testing, comprehension and interaction skills were found to be severely affected in all six individuals. No words had been retained and parents and teachers reported no truly intentionally communicative acts. The analysis of the observation sessions confirmed all six to be at a pre- intentional level of communication. All behaviours were found to be reactive responses to internal or external stimuli or goal-orientated motor acts which were interpreted by parents and caregivers. In order to determine whether this level of communicative ability could be predicted by the level of cognitive ability, cognitive abilities were assessed in the same six individuals according to sensorimotor levels. All six were found to be below sensorimotor level IV. Stage V level of means-end behaviour has been proposed to be necessary for the development of intentional communication in both normally developing and learning disabled individuals (Bates, Benigni, Bretherton, Camaioni, & Volterra, 1977; Snyder-McLean, McLean, & Etter, 1988). The level of cognitive ability in the six individuals therefore predicted pre- intentional communication as determined by the communicative assessment.
Cognitive ability is not the only factor which may have an impact upon the communication abilities in RS. Woodyatt and Ozanne (1997) compared the communicative abilities of ten females with RS to ten females with other profound learning disabilities. Both groups were performing at the equivalent of Piaget’s sensorimotor levels of ability. Although the RS and comparison groups were functioning at a similarly low cognitive level, the RS group’s communication abilities were more restricted. RS individuals were significantly more limited in the number of behaviours interpreted as being communicative (e.g., facial expressions, gestures etc.) and in the total number of inferred communicative acts. This finding implies the influence of other factors, over and above that of cognitive ability, on the communication abilities of individuals with RS. One such factor might be the level of physical ability. Level of physical ability was not assessed in the Woodyatt and Ozanne (1997) study so it not is possible to evaluate this hypothesis. The results from a handful of intervention studies with a small number of RS cases provide evidence that it may be possible to elicit an intentional
communicative response from individuals with RS. For example, females have been reported to be able to make choices between two items by looking or gesturing with their hands (Sigafoos et al., 1995). Females have also been reported to be able to look a particular symbol on a communication board to indicate wants or preferences (Sigafoos, Laurie, & Pennell, 1996) and to press switches contingent on receiving a reward (Sullivan et al., 1995; Watson et al., 1996).
1.2.5.3 Effect o f age on cognitive and communicative abilities
A question raised in the literature has been whether communication and cognitive abilities stabilise following the end of the regression phase. Early reports of RS described a progressive disorder including a progressive loss of cognitive skills (e.g., Hagberg, 1985a; Hagberg, 1985b; Glaze et al., 1987a; Naidu et al., 1986). By the late 1980’s it was widely believed that although there might be deterioration in physical ability post-regression, the cognitive and communicative abilities remain relatively stable at the severe to profound level (e.g. Kerr, 1987; Kerr, Cooper, & Southall, 1991). There are few empirical data to confirm this and the data that does exist are varied.
In their study of 27 individuals with RS aged between 1.5-14.11 years Olsson and Rett (1987) found very little variation in cognitive ability within this wide age range. Similarly, Budden et al. (1990) found little variation in the level of communication skills between 13 cases aged between six and 19 years and reported no further loss of communication ability following the regression period. Woodyatt and Ozanne (1992a) studied both communicative and cognitive abilities in six RS cases aged 2-13 years. No difference was found between the abilities of the youngest and the oldest individuals in the study. Perry et al. (1991) investigated the association between chronological age (CA) and level of functioning by correlating CA with the mental age (MA) scores from the Catell Infant Intelligence Scale and scores on the communication, daily living skills and socialisation domain of the Vineland Adaptive Behavior Scales. MA age scores were available for 15 individuals, the correlation between CA and MA was negative and reached significance
(r= -.51, p < .05) indicating that the older the individual, the lower the mental age. The correlations between CA and the communication and socialisation domains of the Vineland were lower and did not reach statistical significance (r= .23 and r = -.2 0 respectively). The correlation between CA and the daily living skills domain was positive and statistically significant (r =.44, p < .05) indicating the older the individual, the better daily living skills. A similar correctional analysis was conducted by von Tetzchner et al. (1996) between CA and the scores from the Fagan test. Although the correlation for the RS group was low, it reached significance (r = -.26, p < .05) and was in the opposite direction to the correlation found in the control group of age matched normally developing individuals (r = .24, ns). These two correlation coefficients were found to be significantly different indicating opposite trends (z = 2.21, p < 05). These findings indicate a slight decrease in the ability to remember and process visually presented material over time within the RS group.
In summary, cross-sectional studies indicate that there is little variation in communicative and cognitive ability over age. Some abilities may decline slightly with age (MA, visual processing) and some may improve slightly with age (daily living skills) but all abilities remain within the severe to profound range. Longitudinal designs are required to conduct a thorough investigation into age effects. In the only study to employ a longitudinal design Woodyatt and Ozanne (1993) assessed communicative and cognitive abilities in six RS individuals, age between 2-13 years at the beginning of the study and each year, for three years. Although all six continued to perform at a profoundly disabled level, small improvements (up to two sensorimotor levels) were seen in at least one area of cognitive ability in four of the six individuals. Communicative skills were maintained at the pre-intentional level over the three years but an improvement in social interaction was observed in five out of the six individuals. The improvement in social interaction was recorded as an increase in the number of behaviours interpreted by parents has having communicative intent. The range of communicative behaviours shown by each individual did not change over time, indicating the continued restricted
repertoire of potential communication behaviours in these individuals. As noted by Woodyatt and Ozanne (1993), a number of factors other than the age of the child could influence the cognitive and communicative abilities. These factors include, change in physical ability and physical features over time, education programming, and increased caregiver awareness of behaviours that might be communicative. These additional factors were not measured in this study and so their impact on the communication and cognitive ability could not be assessed.
1.2.5.4 Effect o f age at regression on later cognitive and communicative abilities
The age at which abnormalities are noticed by parents and the age at which skills are lost may be indicators of the severity of the disease process in RS. Earlier onset may be indicative of increased severity. In order to investigate this possibility, correctional analyses have been conducted between age at onset of symptoms and various scores on cognitive and communicative assessments (Fontanesi & Haas, 1988; Woodyatt & Ozanne, 1992a; von Tetzchner et al., 1996). Fontanesi and Haas (1988) correlated age at apparent onset with the scores from the sub-domains of the Vineland for a group of 18 RS individuals. None of the correlations reached statistical significance but the correlations between age at onset and fine motor skills (r = .46) and gross motor skills (r = .52) indicated moderate associations. This indicated that the later the age of onset the more advance the subsequent motor skills. All other correlations were small (r < .35). von Tetzchner et al. (1996) found correlations between age of onset of regression and scores on the Fagan test were small (r = -.18 for the total sample of 42 RS cases, r = - .29 for the sample of 33 classic RS cases) indicating that the age at onset had little association with later abilities to process and remember visually presented material. Finally, Woodyatt and Ozanne (1992a) found age at onset of the disorder was not correlated with mental age as assessed by the Catell ( r= .08) or communication skills (r= .16) and socialisation skills (r = .13) as assessed by the Vineland. A significant positive correlation was found between age of onset and daily living skills as assessed by the Vineland (r =
.48, p < .05) indicating the later the onset, the higher the level of current daily living skills. The correlational analyses indicate that there might be a slightly better outcome for those individuals with a later onset particularly in terms of motor skills and daily living skills.
1.2.5.5 Summary o f literature on cognitive and communicative ability
The literature indicates severe deficits in communication abilities in RS which one would expect from the findings of severe and profound cognitive deficits. Through intervention it may be possible to improve the level of intentional communication in this group over time. However, the role of several important factors, including physical ability, age and age of onset, on the communication and cognitive abilities of individuals with RS has yet to be fully understood.
1.2.6 Life expectancy
Individuals can be expected to survive into adulthood and there are reports of women with RS as old as sixty years (Hagberg, 1993). However, the survival rate is reduced compared to the general population. Glaze (1995) reported the survival rate to be reduced to 70% by age 35, compared to 98% in the general US female population. One third of the deaths have been found to occur in the first two decades of life, primarily during sleep (Naidu, 1997). A number of unexplained deaths have also occurred and cardiac conduction defects have been implicated (Sekul et al., 1994).
1.2.7 Rett variants
There is variation in the severity of RS. A number of cases have been described as having many features of RS but not meeting all of the necessary diagnostic criteria for classic RS. Variation in nature of the onset, the age of onset, the profile and severity of symptoms and in the clinical course have been reported. Different terms have been adopted to describe the different variants of RS.
In general, atypical cases, or “Forme Fruste” cases are, compared to classic ones, milder in type, particularly with regard to gross motor disability and
degree of impairment of fine motor skills. There have been reports of individuals who show the same clinical course as those with classic RS, but don't exhibit hand stereotypies and have some hand skills (e.g., Hagberg & Rasmussen, 1986; Percy, Zoghbi, & Glaze, 1987; Suzuki et al., 1986). There are other reports of individuals being competent at walking and running despite showing the other symptoms of RS (e.g., Suzuki et al., 1986). Some individuals appear to experience regression later in development and show a