Reference Work Entry

Comprehensive Guide to Autism

pp 2689-2709

Communication Skills in Girls with Rett Syndrome

  • Theresa BartolottaAffiliated withOffice of the Provost, Seton Hall University Email author 

Abstract

This chapter will provide a summary of current knowledge regarding communication skills in Rett syndrome. The overwhelming majority of individuals diagnosed with Rett syndrome will not acquire verbal language. They also present with impairments in cognition as well as motor skills, which provide medical personnel, educators, and therapists with unique challenges in assessing the developmental level of the individual with Rett syndrome and in designing therapy and educational programs to advance their skills and maximize their potential. The literature on speech and communication in the Rett syndrome population is limited. This chapter will begin with a brief introduction to Rett syndrome and provide a summary of the key characteristics of the disorder. An introduction to key terminology in communication, with emphasis on augmentative and alternative strategies, will be provided. The chapter will conclude with a summary of current knowledge in the area of communication in Rett syndrome, with a focus on the evidence for best practices in communication assessment and intervention.

Abstract

This chapter will provide a summary of current knowledge regarding communication skills in Rett syndrome. The overwhelming majority of individuals diagnosed with Rett syndrome will not acquire verbal language. They also present with impairments in cognition as well as motor skills, which provide medical personnel, educators, and therapists with unique challenges in assessing the developmental level of the individual with Rett syndrome and in designing therapy and educational programs to advance their skills and maximize their potential. The literature on speech and communication in the Rett syndrome population is limited. This chapter will begin with a brief introduction to Rett syndrome and provide a summary of the key characteristics of the disorder. An introduction to key terminology in communication, with emphasis on augmentative and alternative strategies, will be provided. The chapter will conclude with a summary of current knowledge in the area of communication in Rett syndrome, with a focus on the evidence for best practices in communication assessment and intervention.

Introduction

Rett syndrome (RTT) is likely the least known disorder on the autism spectrum. Affecting mostly females, it is the most frequent cause of severe cognitive impairment in girls and women across the world. The first English-language article on Rett syndrome was published in 1983 and awareness of the disorder grew slowly across the world. With the identification of the genetic cause of most cases of Rett syndrome in 1999, worldwide awareness of the disorder grew, and physicians, therapists, and teachers working with individuals with RTT began to study and write about cases they encountered. The greatest amount of interest in the disorder has been in the area of improved accuracy of diagnosis, understanding of the genetic basis of the disorder, and explorations that will lead to treatments and an eventual cure for the condition.

The literature base on education and therapeutic work with this population remains limited. Investigation of treatments to address the cognitive and communicative needs of these individuals, which are quite significant, has seen little attention for a number of reasons. Clinical study of individuals with complex and severe disabilities brings with it significant challenges. The heterogeneity of the group results in difficulty generalizing the outcomes of a treatment with one individual to the larger population.

The first studies on communication and cognition in RTT were published less than 30 years ago with small groups of subjects. These early researchers evaluated the skills of nonverbal individuals with RTT, who also had significant motor problems, and reported cognitive and communicative skills were at the presymbolic level. The conclusion was that individuals with RTT were unlikely to be able to communicate at a symbolic level. We now know that most individuals with RTT will not develop verbal language and will remain almost completely dependent upon others for their daily needs throughout their lifetime. However, recent anecdotal reports, along with a small number of research studies, provide some level of evidence that intentional communication in this population is present and communication intervention has some merit. Developments in the area of augmentative and alternative communication (AAC), along with advances in technology, have provided support to advancing this area of study and clinical practice.

Clinicians and teachers with interest in AAC have explored the use of signs, symbol boards, switches, and other low-level technologies to determine if these tools can be utilized to maximize communication potential in this population. Over the last 20 years, the field of AAC has seen tremendous growth. Advances in technology enable individuals with severe physical disabilities to exert control over their environment and communicate using highly advanced devices or laptops. Nonspeaking individuals with cognitive challenges have also demonstrated benefit from AAC strategies, and as access methods have become more advanced, the interest in use of AAC with those with RTT has grown.

Individuals with RTT are reported to use eye gaze for communication purposes, which interestingly distinguishes them from most other individuals on the autism spectrum. Their persistent eye gaze, often directed toward the faces of other people, is not typically seen in other individuals with ASDs. This skill can provide opportunities for social interaction and bonding with other people. Though it is easy to acknowledge the behavior of making eye contact with another person as a social overture, it becomes challenging to verify the intention of someone with RTT through their eye gaze because of their complex and significant disability. Advances in eye gaze technology have resulted in great potential for individuals with severe physical disabilities to exert control over their environment and improve their quality of life. The literature on use of this technology in RTT is just emerging and will be shared later in this chapter. Apraxia, which is a significant motor planning disorder, appears to affect most volitional movements by individuals with RTT with the exception of eye movements. There is great interest in utilizing the eye gaze modality for communicative purposes in RTT, and new technologies may enable great progress in these area. In this chapter, the current literature on communication in RTT will be reviewed, and strategies for assessment and intervention of communication will be shared in the context of maximizing potential between individuals with RTT and their communication partners.

Description of Rett Syndrome

Characteristics

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that affects approximately one in 10,000 females worldwide. The occurrence of the syndrome in males is extremely rare (Augenstein et al. 2009). RTT is characterized by deficits in the areas of purposeful hand use, communication, ambulation, and cognition (Neul et al. 2008). A characteristic feature of RTT is severely impaired receptive and expressive language, with almost all individuals being nonverbal (Sandberg et al. 2000). At the present time, RTT is classified as an autism spectrum disorder because the key deficits are highly similar to those seen in autism (American Psychiatric Association 2000). Many individuals who now carry an appropriate diagnosis of RTT were initially diagnosed as having autism because of severe deficits in communication and social interaction.

Diagnosis

The diagnosis of RTT is usually made by a neurologist or developmental pediatrician familiar with the disorder. Revised diagnostic criteria for RTT were published recently to provide clarity and consistency for both clinical practice and research (Neul et al. 2010) and appear in Table 1. Clinical diagnosis of the syndrome remains the gold standard, though genetic testing is often completed as part of the assessment to rule out other conditions and confirm a MECP2 mutation. Between 95 % and 97 % of cases of RTT have an identified mutation in the MECP2 gene, and it is now recognized that specific mutations in MECP2 are linked to different severity levels of these clinical features (Neul et al. 2008).
Table 1

Characteristics of Rett syndrome (RTT)

Required features for classic RTT:

 Early period of typical development, followed by a period of regression, followed by a stabilizing or recovery period, plus the following four main criteria:

 Partial or complete loss of functional hand skills

 Partial or complete loss of spoken language skills

 Impaired apraxic gait or absence of ability to ambulate

 Stereotypic, repetitive, nonfunctional hand movements

Exclusion criteria:

 Acquired injury to be brain, neurometabolic disease, or infection resulting in neurological impairment

 Highly abnormal psychomotor development in the first 6 months of life

Supportive criteria:

 Respiratory disturbances, such as rapid breathing or breath holding

 Teeth grinding

 Impaired sleep patterns, frequent sleeping during the day, frequent night waking

 Abnormal muscle tone

 Peripheral vasomotor disturbances

 Scoliosis and/or kyphosis

 Growth retardation

 Small cold hand and feet

 Laughing and/or screaming spells, not appropriate for the context

 Lessened response to pain

 Intense eye communication – often referred to as “eye pointing”

This table lists the key characteristics of classic RTT. All required features must be present, and all exclusion criteria must be absent, in order for the diagnosis of classic or typical RTT to be made. Supportive criteria are often present in classic RTT, though are not required. For a diagnosis of atypical or variant RTT to be made, an individual must experience a period of regression followed by a regaining of skills and display a minimum of two of the four main criteria and five of the 11 supportive criteria (Adapted from Neul et al. 2010)

The role of MECP2 in brain development is not fully understood at this time; however, it is believed that a mutation in the MECP2 gene alters the normal developmental expression of various other genes (Amir and Zoghbi 2000). The majority of individuals receiving a Rett syndrome diagnosis will meet the criteria for classic RTT, also called typical RTT. Classic RTT is characterized by a period of regression in early childhood, partial or complete loss of acquired purposeful hand skills and spoken language, gait abnormalities, and stereotypic nonfunctional repetitive hand movements (such as hand wringing, clapping/tapping, mouthing, or washing movements) (Neul et al. 2010). Many individuals also develop seizures, respiratory, sleeping, and feeding problems. The stereotypic motor movements are often accompanied by apraxia, which can affect all planned motor movements, including limb movements and speech production (Hetzroni et al. 2002). Atypical, or variant RTT, is a less severe form of the disorder. To receive a diagnosis of atypical RTT, an individual must demonstrate some but not all of the main criteria for RTT, along with some of the supportive criteria. The small group of individuals with RTT has been observed to have some use of verbal language skills typically present with a diagnosis of atypical or variant RTT.

Natural Course of Rett Syndrome

In the past, RTT was described as a staged disorder in which the symptoms became more evident and progressed with age, with a decline in functioning occurring sometime during adolescence or adulthood. The stage model is no longer being used in current literature, as not all individuals progress through each of the four stages, and the disorder is no longer viewed as a degenerative process. However, describing the evolution of the symptoms of the syndrome is helpful in understanding what is typically manifested at different periods and can aid clinical practice.

From birth to approximately 1 year, most individuals who later receive a diagnosis of RTT begin to acquire walking and language skills and do not present with any atypical signs (Cass et al. 2003). Sometime after the first birthday, the regressive period begins, when previously acquired skills in motor ability and language are lost. This phase may last for as long as 3 years. Seizures may begin at this time, along with respiratory, feeding, and sleep difficulties (Naidu et al. 2003). The child may appear socially withdrawn during this stage and some receive the diagnosis of autism. Repetitive, nonfunctional hand movements begin, which limit their ability to interact with and learn from the environment. These hand movements may later impact their ability to use augmentative systems for communication. Apraxia becomes evident during this stage and can affect all planned motor movements, including limb movements and speech, making it especially challenging for teachers and therapists to adapt educational materials and provide access to technology. Initiation of voluntary movement may be delayed, often as long as 30 s (Bartolotta et al. 2011). Reports from the literature suggest accurate responses can be produced by individuals with RTT when their communication partner provides sufficient wait time after asking a question (Skotko et al. 2004).

Following this first regressive phase, there is typically an improvement in symptoms and a learning of new skills. Agitation and sleeping difficulties, which are common in the early phase of the disorder, typically improve, and the behaviors typical of autism (i.e., decreased eye contact, social withdrawal) often lessen. Gains in communication and motor skills may occur during this time, and the individual with RTT may remain stable through adulthood.

For a small proportion of individuals with RTT, adolescence may bring a second period where skills decline. An increasing rigidity of the body can occur which may result in loss of walking skills and decreased repetitive hand movements. However, eye gaze may improve during this stage with an increase in social interaction and engagement. If the individual with RTT is relatively healthy, they may live well into middle age, though sudden death of unknown cause during sleep is reported. Many individuals with RTT have significant medical issues that affect their long-term health such as pneumonia, dysphagia, and seizures (Cass et al. 2003).

Key Differences Between Rett Syndrome and Autism

Rett disorder is part of the autism spectrum primarily because of the challenges these individuals face in communication, social interaction, and play behaviors (American Psychiatric Association 2000). However, there are significant distinctions that differentiate Rett from autism. Individuals with RTT are described as highly social and engaged, especially after they have reached the plateauing stage of the disorder and begin to reacquire skills. They often seek communication and interaction with others; while they usually cannot use words, eye gaze is very strong in RTT and evidence suggests they prefer to look at socially engaging stimuli (Djukic and McDermott 2012). The motor challenges demonstrated in RTT are different than those seen in autism or atypical autism; the severe apraxia and difficulties with ambulation that occur in RTT are not typically present in most children with other ASDs.

Professional Awareness

Speech-language pathologists (SLPs) are the individuals who are typically charged with assessing the communication of individuals with RTT and designing strategies to improve their communication. However, a recent study found that many SLPs have limited knowledge of the diagnostic criteria for autism, lack formal training in autism, and lack confidence in their ability to provide services to children on the autism spectrum (Schwartz and Drager 2008). SLP knowledge of related disorders on the autism spectrum, such as RTT, is likely even more limited. Individuals with RTT will require different treatment approaches than others on the autism spectrum, which are specifically tailored to their unique needs.

Communication and Language

Typical Language Development

In typically developing children, language develops along a predictable course from infancy, through childhood, and into adolescence. At birth, babies are able to produce a limited range of vocalizations, which are generally manifested as cries to indicate some type of internal distress. As the infant develops, their sounds change and take on components of the language of the home. These early sounds develop into strings of complex sound productions, referred to as babbling, which then results in the production of the first true word, which in most typical cases, occurs somewhere around the first birthday. The child’s motivation to communicate and develop social-emotional connections with others is key to development of the back-and-forth exchanges that grow into conversation. The development of language has been closely tied with the acquisition of certain cognitive milestones. For example, children typically acquire a level of symbolic functioning which is manifested in the understanding that things exist even when they are not present. For example, a child who has achieved this skill can search for a hidden toy until it is found. This cognitive achievement, called object permanence, is closely tied to the use of words for objects. The skill of knowing objects exist even when they are not visible enables the toddler to talk about “daddy” when he is away at work. In addition to mastering skills in social interaction, communication, and cognition, the growing child develops control over muscles in the face, mouth, and throat, enabling them to produce clear sounds and sequence these sounds together to make words and sentences. Speech production requires fine coordination of articulation, voice production, and respiratory control.

Language Development in RTT

In Rett syndrome, a disruption occurs in the development of communication, language, speech motor control, and cognition early in childhood. The reason is unknown but is likely related to the role of the MECP2 gene in brain development. The individual with RTT may vocalize and develop early words in the first year of life, but typically experiences a decline in communication development. This regression, which most often occurs in the second year of life, is very similar to the regression in communication observed in individuals who receive a diagnosis of autism or pervasive developmental disorder. There is little published research on the communication abilities of individuals with RTT, and evidence guiding best practices for communication intervention with this population is limited (Sigafoos et al. 2009). The overwhelming majority of individuals with RTT are nonverbal, though they are reported to communicate through the use of alternative modalities, including body movements, vocalizations, eye gaze, and facial expressions (Bartolotta et al. 2011). A recurring theme in the literature has been how to document the validity of behaviors produced through these alternate modalities as they require interpretation by the communication partner.

Cognition, Motor Development, and Communication

The early published literature on cognition and communication in RTT described the severe cognitive deficits in this population, with most individuals functioning in the 12–18-month level of development. However, determining the level of functioning of an individual with complex needs is highly problematic given variability in functioning and difficulty in interpreting behaviors. The motor problems observed in RTT cannot be discounted in relation to the impact on learning and the ability to display skills. Individuals who cannot use their hands purposefully will have difficulty interacting with objects, and in the early stages of infancy, picking up objects, placing them in the mouth, and interacting with them are some of the keys ways children learn about their environment. This is also one of the key ways children build vocabulary. When an individual has difficulty with using their hands, their ability to play and learn is greatly affected. Combined with difficulties in attention, motor planning and delayed response time, these challenges make it incredibly difficult for individuals to learn and demonstrate their knowledge and also for experts to assess their learning and skill level.

Speech, cognition, and apraxia are three key components of the Rett disorder, yet the interaction between limb and oral apraxia on cognition and language development is an issue that has not been fully explored in this population. The onset of apraxia and loss of functional hand use that occurs during early childhood can impact the ability to develop cognition and language skills. Zappella and colleagues (1998) noted that individuals with RTT are often initially diagnosed with only a mild cognitive impairment. As the disorder evolves and the range of impairments becomes more evident, a significant cognitive deficit becomes evident. Many parents report that their child’s acquisition of early developmental milestones was unremarkable. The interaction of the evolving motor impairment on established cognitive abilities and the child’s readiness to learn new skills has not been fully explored but is an area that could yield substantial information for education and training.

As the cause of the disorder is further researched, additional information on the neurobiology of RTT may help clarify the cognitive changes that apparently occur as the disorder progresses. Enhanced excitatory activity and increased brain glucose metabolism have been documented in the early stages of the disorder which suggests an evolving brain dysfunction. Reduced excitatory activity and relatively lower brain glucose metabolism have been found in older individuals with RTT who demonstrate more severe cognitive impairment (Johnston et al. 2003). As more information is collected on the effect of the MECP2 mutation on the brain, we should gain a greater understanding of the resulting influence on adaptive functioning.

The influence of apraxia on the ability to measure cognition and communication skills has been discussed by several researchers. Evan and Meyer studied the communication skills of an 8-year-old girl with severely impaired motor skills and a diagnosis of RTT (1999). Their subject had failed to learn sign language or oral speech. The researchers observed this girl in a variety of interactions and noted that she used many nonstandard behaviors that were communicative. For example, she moved toward an object and looked at it when making a request. The researchers concluded that this child was capable of intentional communication using nonstandard behaviors (Evan and Meyer 1999).

In one of the early studies on the topic, Woodyatt and Ozanne (1994) concluded that apraxia is likely to interfere with a child’s attempts to communicate and also results in an underestimation of the child’s linguistic and cognitive abilities. These authors studied four girls with RTT using a multiple case study design. They concluded that three of their respondents were at a preintentional level of communication. However, all of their respondents were highly social and responsive to speech. They all used nonstandard communicative behaviors to interact with others. Examples of these behaviors are touch, eye gaze, smiling, vocalizing, and laughing. The authors suggested that future studies be designed to investigate the interrelationships between cognition, communication, and physical skills (Woodyatt and Ozanne 1994).

In a study of the use of AAC training with three girls with RTT, Van Acker and Grant (1995) found they were able to train their respondents over a 3-month period to touch a computer screen to make requests for desired food items. As they studied the girls with RTT, these researchers noted a delayed motor response and intense motivation was needed to initiate purposeful movement. These authors suggested the motor deficits displayed by the girls with RTT may have been more severe than their cognitive deficits. The subject in the study with the lowest estimated cognitive level (as measured by formal testing) learned the skill of touching the computer screen to make a request more rapidly than the other two subjects. All three of the subjects were reported to have cognitive abilities below Stage V of the Piagetian stages of sensorimotor development which would suggest that they were preintentional. However, the authors reported that their subjects displayed intentional communication because of their ability to use the computer in a meaningful and consistent manner. In addition, they noted a number of nonstandard behaviors (i.e., eye gaze, vocalizations, facial expressions, gestures, walking to a desired object or activity) that appeared to be communicative (Van Acker and Grant 1995). This observation is noted in other studies as well, providing more support that these nonstandard behaviors are meaningful and should be valued as intentional communication attempts (Bartolotta and Remshifski 2013; Evan and Meyer 1999; Skotko et al. 2004).

Communication Assessment and Intervention

Assessment Strategies

The diverse array of complex behaviors exhibited by individuals with RTT can affect the validity and utility of assessment. Similar to what is observed when assessing cognition or communication in individuals with autism, assessment of individuals with RTT has proven to be quite challenging given their significant associated difficulties. The difficulties inherent in using formal assessment instruments with individuals with complex communication needs are many, and the data obtained from formal assessment may yield little functional information to develop a meaningful treatment program. In a systematic review of the research regarding communication assessment in RTT, Sigafoos and colleagues reported on some evidence that individuals with RTT were capable of communication based on behavioral observations and some standardized assessments (2011). In the studies reviewed, individuals with RTT were reported to use body movements, vocalizations, eye gaze, and facial expressions for communication. However, the validity of the observations was unclear, as there was a lack of a standard measurement for use of communicative forms and functions (Sigafoos et al. 2011).

In everyday practice, clinicians frequently use dynamic assessment strategies, where individuals are assessed in real-life situations interacting with individuals (e.g., family members, caregivers, educators) who know them best and can interpret their behaviors. A useful tool for gathering information on communication is the Inventory of Potential Communicative Acts (IPCA) (Sigafoos et al. 2006). This tool uses interview and observation to gather information on how an individual with complex communication impairment expresses social conventions; directs attention to themselves; rejects or protests; requests objects, actions, and information; comments; makes choices; answers; and imitates. The adult who completes the IPCA provides a description of the behavior which is used for the particular communicative function, for example, leans up against someone to greet or yells to protest. The IPCA provides an opportunity to determine the range of communicative functions an individual can express using their own unique behaviors. The data is displayed on a grid which can be used to design intervention programs and also to track progress as skills develop.

Another useful tool for assessment of communication behaviors of nonverbal or severely impaired individuals is the Communication Matrix (Rowland 2011). This online assessment, available at http://​www.​communicationmat​rix.​org, is designed to assess individuals of all ages who are performing at the lowest levels of communication and provides a framework for goals for intervention. Organized according to a developmental sequence, the Communication Matrix assesses levels of symbolic communication, from prelinguistic levels up through use of abstract symbols. Both parent and teacher friendly, this tool can also be used for research purposes to track progress in intervention studies.

Intervention Strategies

Traditional speech therapy methods which focus on increasing oral motor control to develop oral speech are not likely to be effective in the majority of individuals with a diagnosis of RTT. These individuals will likely benefit from early intervention using augmentative and alternative communication strategies that facilitate use of multiple modalities for communication. Most communicators use more than one modality for communication, such as eye gaze, body movements, gestures, facial expression, speech, and writing. A recent study provided information on the modalities used for communication in over 140 girls with RTT (Bartolotta et al. 2011). Each girl used an average of three different modalities, with eye gaze being the mostly commonly used, followed by body movements and pictures or symbol boards (Fig. 1). When assessing an individual with RTT, clinicians should evaluate all modalities an individual is capable of using, recognize that not all modalities work in all situations, and provide interventions that enable a person to communicate to their potential in a variety of situations.
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Fig. 1

Communication modalities used by girls with RS. This figure lists the reported frequencies of use of various communication modalities by individuals with RTT. Respondents could indicate more than one choice. The most frequently used modality is eye gaze, followed by use of picture-based systems and body movements (From Bartolotta et al. 2011. Copyright ©2011 by Hammill Institute on Disabilities)

Other aspects to consider include the influence of apraxia and delayed response time. Bartolotta and colleagues (2011) asked how long it took for a girl with RTT to generate a response to a stimulus and found that 57 % of the sample required a delay of 11 s or more to generate a response (Fig. 2). Information on how long it takes an individual to produce a response is key when assessing an individual, providing stimuli in a teaching or communication situation, and setting up intervention programs. The individual with RTT must be given an appropriate amount of time to reply to a stimulus (e.g., a question or a command) before the determination is made whether or not they understand the request.
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Fig. 2

Length of time required to produce a response. This figure lists the reported time to produce a response, in seconds, by individuals with RTT. Approximately 43 % were reported to produce responses in 10 s or less, while the remaining 57 % required a delay of 11 s or more to produce a response (From Bartolotta et al. 2011. Copyright ©2011 by Hammill Institute on Disabilities)

Technological advances provide some promise for validation of skill level in this population. In a paper describing the use of a video-based tool for evaluation of skill level in RTT, the authors provide evidence of content and social validity for use of videos in conjunction with a checklist and coding protocols to document and validate communication (Fyfe et al. 2007). Another study used eye-tracking technology to measure gaze behavior in seven individuals with RTT on three cognitive tasks. Results suggest that the individuals were using intentional eye gaze in response to varied commands to look at pictures. The implication of this preliminary research is that electronic eye gaze measures may be utilized to both explore and document cognitive and linguistic abilities in this population (Baptista et al. 2006). In their paper on the use of eye-tracking software to assess nonverbal cognitive abilities and visual preferences in 49 girls with Rett syndrome, Djukic and McDermott (2012) demonstrated the reliability of this tool for assessment. In a related paper, visual preference for novel and salient stimuli, similar to preferences expressed by typically developing children, was demonstrated in 44 girls with Rett syndrome (Djukic et al. 2012). These preliminary findings suggest that there are as yet untapped and unknown potential abilities in this population. The hope is that technology can lead the way to open new avenues for effective learning and communication for this population.

Communication Intervention

The most effective strategies to improve communication in RTT appear to be identification of behaviors that are communicative or are potentially communicative, education and training of communication partners, implementation of general AAC strategies, and specific strategies for use of eye gaze for communication. Each of these will be addressed in turn.

A number of studies have noted that unique or “nonstandard” behaviors produced by individuals with RTT may be meaningful and valued as intentional communication attempts. In a study that examined meaningful use of eye gaze, three individuals with RTT were trained to look at a named object when picture communication symbols were presented on a computer screen. At the end of the training, the subjects started to use the symbols during classroom instruction. Though the authors cautioned that their data could not be generalized beyond the observations made in the participants’ classrooms, they recommended additional research be conducted to determine how to effectively train individuals with RTT to use symbols for communication (Hetzroni et al. 2002). Skotko et al. (2004) noted that individuals with RTT learned to communicate in meaningful ways during the context of storybook reading with their mothers. In this study, the researchers provided training to the mothers of four individuals with RTT to enhance the quality of story reading interactions. The training strategies included attributing meaning to the individuals’ attempts to communicate, asking communicatively relevant questions, and waiting between 8 and 30 s to allow their daughters to respond. One of the key strategies was acknowledgement of behaviors as potentially communicative, even if the mothers weren’t sure what the behaviors were supposed to mean. The authors found that these adaptations resulted in increased numbers of communicative attempts by the individuals with RTT.

Communication Partner

The role of the communication partner has been described as integral to the development of intentionality in the person with a severe disability (Rowland 2003). In an interaction with a person who is severely disabled, the communication partner uses inference and intuition in order to ascribe meaning to behaviors (Grove et al. 1999). In educational settings, children with limited language skills have been found to have reduced opportunities for communication. A successful strategy to increase communicative effectiveness of children with severe disabilities is to modify the behavior of the adult communication partner (Bartolotta and Remshifski 2013; Ryan et al. 2004; Skotko et al. 2004). In a survey of 141 parents, teachers, and speech-language pathologists familiar with individuals with RTT, individuals were reported to use multiple modalities to communicate, with eye gaze the most frequently used modality, followed by picture/symbol systems and body movements. The majority of respondents reported that familiar people can interpret the communication behaviors of individuals with RTT, and that most people underestimate the abilities of individuals with RTT. The respondents also agreed that therapy was helpful in improving the communication skills of individuals with RTT (Bartolotta et al. 2011).

Communication Coaching

In a training study assessing the use of communication coaching, adults who worked with girls with RTT at mealtime in their classroom were asked to acknowledge behaviors produced by girls as communicative and then modify their own behavior accordingly (Bartolotta and Remshifski 2013). Videotaped mealtimes between girls with RTT and their feeders were analyzed to learn how many opportunities for communication occurred during a typical meal and “teachable moments” for enhancing communication were identified. Training, referred to as communication coaching, was offered to the adult partners who fed the girls at mealtime in school. A list of communication coaching strategies is found in Table 2. Adult partners were asked to increase wait time between requests, offer opportunities to use AAC devices if the person was able, acknowledge all potential behaviors as communicative, and to consistently respond as if a girl was communicating. For example, a girl with RTT was offered a choice of foods, and when she looked toward one of the foods or moved toward a food, the adult partner was instructed to acknowledge the eye gaze or body movement as a request. The message conveyed to the adult feeders was: if you think they are communicating, assume they are communicating. This mindset of “assumed competence” was stressed repeatedly. Following the training session, additional mealtimes were videotaped and analyzed and the data suggested that, following the training sessions, a change occurred in the communication interaction between the individuals with RTT and their adult partners. Over time, the number of communication attempts produced by the girls with RTT increased as their partners modified the mealtime contexts to allow for greater opportunity for choice making. This change in partner behavior was also noted to occur in the girls’ classrooms, as they were offered more opportunities to express intentions not just at mealtime but during other activities as part of the school day.
Table 2

Partner communication strategies

1. Approach the individual from a perspective of competence – assume they understand you and can express their needs and wants

2. Offer choices – the number will depend upon skill level

3. Provide an array of communication options, such as real objects, pictures, or symbols and model use of those in interactions

4. Wait up to 30 s after making a request or providing a comment to allow a response to occur (amount of time will depend upon individual with RTT)

5. Acknowledge any behavior as potentially communicative, including eye gaze, vocalizations, body movements, and gestures

This table provides a list of suggested coaching strategies that can be used to maximize communicative interactions between individuals with RTT and their partners (Adapted from Bartolotta and Remshifski 2012)

Augmentative and Alternative Communication

Augmentative and alternative communication (AAC) is an area of practice that provides support to individuals who are impaired in the ability to communicate using verbal and/or written language. AAC is often best approached using a multidisciplinary approach, involving individuals with expertise in communication, gross and fine motor skills, vision, environmental access, seating, and rehabilitation engineering. Speech-language pathologists (SLPs) often take the lead on assessing an individual’s language and cognitive abilities and interests, communication challenges, communicative partners and contexts, and planning intervention to maximize communication potential to meet the needs of the individual. AAC has been demonstrated to be a highly effective tool to achieve communication potential for individuals with a varying array of complex communication needs. Though the literature on effective strategies for AAC use in RTT is small, it is growing, and developments in technology are providing new avenues to explore.

AAC should be implemented early and tailored to the unique needs of the individual. Wine (2011) suggests using a personal communication directory, which is essentially a guidebook that describes a behavior, the meaning of the behavior, and what the communication partner is supposed to do when the behavior occurs. Once a communication assessment such as the IPCA is completed, the results can be displayed in a small notebook that could be used as a preliminary communication tool to limit frustration and allow for consistent interpretation of nonstandard behaviors. This type of tool could then be used to design situations in which to begin to implement AAC strategies. Though the details of how to conduct an AAC assessment are beyond the scope of this chapter, a few key suggestions tailored to RTT can be helpful to guide clinical practice. Once a potentially communicative behavior is identified and is produced repeatedly, the clinician can attempt to move the individual with RTT from functioning at a presymbolic level to a symbolic level. For example, if a girl with RTT chooses a favorite food by looking at it on the table, a photograph of the food can be placed in front of the food, and the girl encouraged to look first at the photo before obtaining the food. As this skill develops, a symbol representing the food or food category could be introduced. This strategy allows for development of higher-level symbolic skills and enables symbols to eventually represent more than one single object. As the individual with RTT is able to move up the “symbolic ladder,” their ability to utilize a larger vocabulary may grow. See Table 3 for a sample progression in use of symbols to develop vocabulary. Once a core vocabulary of key objects/foods is established, the choices can be expanded to include places and people. The composition of the core vocabulary will be individualized based on the preferences of the individual with RTT, along with information provided by communication partners who interact with the individual on a regular basis.
Table 3

Progression in symbol level for icons in augmentative communication aids

1. Real object – true to size

2. Miniature of real object

3. Portion of object – such as a label from a package or container

4. Photograph of object

5. Colored drawing of object

6. Black and white drawing of object

7. Universal symbol of object (e.g., PCS, Blissymbols)

This table provides guidelines for the progression – from lowest level of symbolism to highest level – for icons used in augmentative communication aids. Therapists or educators can begin to use icons at the level that is appropriate for the individual and then gradually increase the level of symbolism to expand the capacity of the system.

AAC Devices

A large number of AAC devices are available that can be used for this population. The type of aid will depend upon factors unique to the individual with RTT as well as access to resources for purchase, training on use, and access to upgrades and improvements as the individual progresses and technology changes. Speech-generating devices (SGDs) are AAC aids that provide voice output using synthesized or recorded speech. SGDs are popular because the voice output feature is socially acceptable and makes it easier for a communication partner to interpret the message, rather than staring at a screen or spelling out letters in a message. Table 4 provides a list of the key features of SGDs that should be carefully considered before a purchase of a particular device is made. Devices should be chosen that are flexible and can grow with the individual with RTT as they develop. They should also be easily understood and easily used by the communication partner. If a device involves complex technology, resources for training and repair need to be available. One device does not work in all settings for anyone, so a good AAC plan allows for AAC aids that work in several situations. It is very typical for an individual AAC user to have access to several different communication modes, including more than one AAC system, for different situations. For example, a child could use a single switch with a message for circle time in school and an eye gaze board/device (electronic or nonelectronic) for lessons in the classroom and could communicate using head nods/vocalizations/body movements during mealtime, baths, or car rides. In all instances, the vocabulary and symbols used must be meaningful and appropriate for the individual AAC user.
Table 4

Features of speech-generating devices

1. Type of speech – digitized or synthesized

2. Method of access – direct selection or scanning

3. Activation – switch or eye gaze

4. Amount of recorded message time

5. Number of levels (different pages or page sets)

6. Amount and size of symbols on a page

7. Size and weight of device

This table lists the primary features of speech-generating devices (SGDs) that should be considered when choosing a communication device for an individual with RTT.

Eye Gaze

The use of meaningful eye gaze in RTT as a communication modality has generated a great amount of interest in recent years. In a study examining behaviors in individuals with RTT, four individuals were found to intentionally use alternating eye gaze for communication (Hetzroni and Rubin 2006). Intense eye communication or “eye pointing” is so frequently observed in RTT that it is listed as one of the supportive criteria for atypical and classic Rett syndrome as part of newly revised diagnostic criteria for the disorder (Neul et al. 2010). Clinicians and families can begin to utilize this modality in RTT by observing an individual’s eye gaze patterns and providing feedback as appropriate, for example, by saying “I see you are looking at the juice – do you want juice?” and then responding appropriately after sufficient wait time. An object can be held up for an individual with RTT to look at to see if the object is desired. Next objects can be held up in pairs to offer choices. Once an individual can reliably gaze at two different objects, the field of choice can be increased. Based on the ability of the individual with RTT, opportunities to increase symbolism can be offered by offering photographs instead of objects and then progressing to drawings and symbols. Devices which allow for opportunities to expand the eye gaze modality include boards, books, and electronic aids which use infrared technology to track eye movements. An assistive technology expert and a speech-language pathologist should be consulted to work together with the family and other members of a team to identify the best devices and strategies to use to advance communication. There are several resources published by experts who work with individuals with RTT which provide practical guidelines for advancing communication. Table 5 provides a list of three excellent, affordable resources which can be used by families, teachers, and therapists as guidebooks to advance teaching and learning in this population. Each provides a number of practical AAC strategies.
Table 5

Educational and therapeutic resources

1. The Rett Syndrome Handbook, by Kathy Hunter, second edition. Published in 2007 by the International Rett Syndrome Association, this handbook provides a wealth of information and practical strategies on how to address communication, physical, and medical issues in Rett syndrome. A must-have for families, it is also an excellent introductory handbook for every classroom teacher and therapist working with this population

2. Rett Syndrome: Therapeutic Interventions, edited by Meir Lotan and Joav Merrick, published in 2011. This guide summarizes state-of-the-art information on a variety of interventions including physical, occupational, music and speech therapy

3. Understanding Rett Syndrome: A Practical Guide for Parents, Teachers, and Therapists, 4th printed edition, by Barbro Lindberg. This guide offers an array of easy to implement teaching strategies based on the author’s experience

This table lists three general references for educational and therapeutic strategies to use in Rett syndrome. Complete bibliographic information is contained in the reference list.

Directions for the Future

The evidence to guide clinical practice in the area of communication in Rett syndrome is limited. Although a fair amount of reports describe intervention methods which result in improvements in communication, a recent systematic review of communication intervention in RTT found that research findings are inconclusive as to the proven value of certain therapy methodologies with this population. Though the majority of studies reviewed reported gains in communication, the findings were not generalizable given methodological concerns and the small number of papers available for analysis. The authors also addressed the likely variation in outcomes at different stages of the disorder (Sigafoos et al. 2009) which adds another layer of complexity when working with this population. An additional issue that is worthy of exploration is the question as to whether the nonstandard behaviors that are produced are truly symbolic or are they actually precursors to symbolic behavior. In a study of reported communication of 120 individuals with RTT using the Inventory of Potential Communicative Acts, most of the communicative behaviors were described as prelinguistic or nonsymbolic in nature. Approximately 15 % of the population studied used some type of symbolic communication, either words or symbols, to convey requests (Didden et al. 2010).

Those of us who work to increase the knowledge base in this area have a great deal of work ahead. A key goal is to increase awareness of the disorder and to further explore and document the benefits that can be achieved with strong intervention programs. There is a great deal of potential in application of AAC technologies and strategies with this population. Communication intervention must begin early, immediately after diagnosis, and involve all stakeholders to maximize gains. We must educate those who interact with individuals with RTT to recognize and acknowledge those potentially communicative acts as intentional and meaningful. We must be prepared to modify and adapt the communication system as the individual with RTT grows and changes. And we must approach this group from a perspective of competence, recognizing that there is potential for symbolic communication, and use the best technologies available to maximize the quality of life for those living with RTT and their families.

Key Terms

  • Communication. A process of encoding, transmitting, and decoding signals in order to exchange information and ideas between participants.

  • Intentional communication. Use of behaviors to gain another person’s attention, to send a signal to another person, or to seek a response from another person.

  • Modalities of communication. Behaviors used by individuals to communicate; these may include speech, gestures, body movements, eye gaze, and writing.

  • Standard and nonstandard communication behaviors. Behaviors, reported in the literature, that are used by individuals with Rett syndrome to communicate; these include speech, signs, gestures (pointing, head shakes), eye gaze, vocalizations, facial expressions (smiling, frowning), body movements (wiggle, kick), hyperventilation, or other.

  • Communication functions. Purposes of communication; in the early phases of communication, these purposes may involve efforts to regulate another person’s behavior to achieve a goal, seeking of social interaction, or to establish joint attention to share information.

  • Apraxia. A disturbance in the ability to plan and coordinate motor movements.

  • Augmentative and alternative communication. Use of strategies and techniques to compensate (either temporarily or permanently) for severe expressive communication disorders that affect spoken and/or written language.

Key Facts of Rett Syndrome

  • Rett syndrome was first described by Dr. Andreas Rett, an Austrian neurologist, in 1966.

  • Rett syndrome occurs almost entirely in females and over 95 % of individuals with Rett syndrome have a mutation in the MECP2 gene.

  • Rett syndrome is rare and occurs in about 1 in 10,000 live female births worldwide.

  • Hallmarks of Rett syndrome are severe impairments in cognition, communication, and motor skills.

  • The gold standard for diagnosis of Rett syndrome is clinical evaluation.

  • The overwhelming majority of those with Rett syndrome will be nonverbal and not develop functional spoken language skills.

  • There is evidence that early intervention using augmentative and alternative communication systems or strategies can assist in development of communication and cognitive skills and improve quality of life for those with Rett syndrome.

Summary Points

  • The literature on best practice in communication assessment and evaluation in Rett syndrome is limited.

  • Some evidence exists that supports use of augmentative and alternative communication methods for interaction and learning.

  • Many individuals with Rett syndrome present with seizures, fluctuating levels of awareness, and generalized apraxia.

  • Motor challenges, including delays in response time and inconsistency in responses, are impediments to the use of formal tools for assessment of developmental level.

  • Evaluation of comprehension and cognition provides unique challenges for the clinician.

  • Dynamic assessment in familiar settings can yield functional information which can be used for educational and therapeutic purposes.

  • Most individuals with Rett syndrome communicate using multiple modalities, including eye gaze, gesture, and body movements.

  • Communication partner training is an effective way to increase communication in Rett syndrome.

Copyright information

© Springer Science+Business Media New York 2014
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