RUNNING HEAD: RETT SYNDROME ETHNOGRAPHY
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Qualitative Methods Research Final
Girls with Rett Syndrome: Ethnography of Communication
Heidi Guggisberg-Coners
Regent University
AUTHOR’S NOTE
Heidi Guggisberg-Coners, Department of Strategic Communication and Journalism,
Regent University
Correspondence concerning this article should be addressed to Heidi Guggisberg-Coners,
School of Communication and the Arts, Regent University, Virginia Beach, VA 23464.
Contact: heidcon@mail.regent.edu
RETT SYNDROME ETHNOGRAPHY
Abstract
Articles were reviewed involving the Ethnography of Communication and Rett Syndrome. An
exploratory ethnographic study was undertaken involving girls with Rett Syndrome and their
families. Four individuals were studied and their experiences were compared to the findings
presented in the existing research. Communication modes examined included speech, gestures,
communication boards, and computer-based systems. Targeted communication functions
included imitative speech, requesting, naming/commenting, and various receptive language
skills. While the study remains exploratory, it indicates a definite gap between the available
research concerning Rett Syndrome and the actual experiences of individuals with Rett
Syndrome and their families.
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Girls with Rett Syndrome: Ethnography of Communication
The Invitation
The music of heaven fills my heart with longings I cannot ignore
The time spent on earth full of its possibilities,
becomes a distant memory
compared to what I see through weary eyes
I leave my love behind to offer as a beacon
for those who wonder if it’s true,
I have seen, I have heard, I am certain
It’s a small step for me now on this path
I hear the tears of many who have loved me so well.
Love another like you loved me,
and this world will be a better place.
I see the face of God
I see my new beginning and I am full of joy
I will watch for you, please come.
Karly Wahlin
February 17, 2012
This poem was written by a girl with Rett Syndrome, who is a friend of the girls
introduced in the following pages. There are few girls with Rett Syndrome who are able to
communicate the way Karly did by typing her thoughts on a computer keyboard, but all girls
with Rett Syndrome do communicate. The research which has been done provides some of the
story behind this debilitating syndrome, but more of the story can be told by spending time with
the people whose lives are most impacted by Rett Syndrome. An ethnography, based on the
Ethnography of Communication Theory, was undertaken in order to bring an understanding to
the reality behind the numbers provided in the statistical research which has been conducted in
recent years concerning Rett Syndrome.
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Literature Review
The Ethnography of Communication has its origins in the sociocultural tradition of the
communication discipline; thus indicating the Ethnography of Communication draws upon ideas
from both the sociological and intercultural perspectives. The concept of Ethnography of
Communication was first undertaken by an anthropologist, Dell H. Hymes. Throughout his
research, Hymes discovered there was more to communication than just linguistics. Therefore,
the Ethnography of Communication was developed as at least a partial solution to the problem.
According to Hymes, an ethnography of communication, “investigate[s] directly the use of
language in contexts of situation so as to discern patterns proper to speech activity, patterns
which escape separate studies of grammar, of personality, of religion, of kinship and the like,
each abstracting from the patterning of speech activity as such into some other frame of
reference” (Hymes, 1964, pp. 2-3). Hymes also explains, “[Ethnography of Communication]
must take as context a community, investigating its communicative habits as a whole, so that any
given use of channel and code takes its place as but part of the resources upon which the
members of the community draw” (Hymes, 1964, p. 3).
It appears as though the Ethnography of Communication takes into consideration not only
the words spoken, but the nonverbal communication and cultural implications that go along with
the message. While the spoken words in and of themselves would be a source for research and
study, Hymes and others like him wanted to know more about the way in which the
communication plays a part in a culture or society. According to Donal Carbaugh, “The
approach is concerned with (1) the linguistic resources people use in context, not just grammar in
the traditional sense, but the socially situated uses and meanings of words, their relations, and
sequential forms of expression; (2) the various media used when communicating, and their
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comparative analysis, such as online "messaging" and how it compares to face–to–face
messaging; (3) the way verbal and nonverbal signs create and reveal social codes of identity,
relationships, emotions, place, and communication itself. Reports about these and other
dynamics focus on particular ways a medium of communication is used, on particular ways of
speaking, on the analysis of particular communicative events, on specific acts of communication,
and on the role of communication in specific institutions of social life” (2007, p. 2).
“Rett syndrome (RTT) is a neurodevelopmental disorder with devastating consequences,
explain Bergström-Isacsson, Lagerkvist, Holck, and Gold (2013, p. 788). It is a genetic disorder
with a biological marker for its diagnosis. It is associated with mutations in MECP2, a gene
located on the long arm of the X chromosome (Xq28; Sirianni, Naidu, Pereira, Pillotto, &
Hoffman, 1998; Amir & Zoghbi 2000). MECP2 encodes the transcriptional repressor methylCpG-binding protein 2, a protein involved in synaptic development and function (Kaufmann,
Johnston, & Blue, 2005). Rett Syndrome results in severe mental retardation and neurological
disability. Although the girls with RS seem to develop normally for a period during infancy,
they eventually go through a period of developmental regression (Fabio, Antonietti, Castelli, &
Marchetti, 2009). When developmental regression begins, individuals with Rett syndrome
usually progress through four stages, early onset deceleration stage, rapid destructive stage,
pseudostationary stage, and motor deterioration stage. Upon reaching the final stage most
children are unable to walk, talk, or use their hands for functional activities (Sigafoos et al.,
2009).
Research conducted concerning girls with Rett Syndrome has frequently included
analyzing videos. Marschik et al. conducted a retrospective analysis of comprehensive video
footage of girls who were diagnosed with Rett Syndrome after regression had begun.
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Throughout the twenty-one hours of total footage reviewed, Marschik et al. determined a
gestural repertoire that included, “demonstrating an object, passing on an object, index finger
pointing, extending arms, head nodding, and waving bye-bye” (2012, p. 1717). Another study to
use video footage was that conducted by Bartl-Pokorny et al. in which videos were collected and
reviewed, using the IPCA (Inventory of Potential Communicative Acts) to analyze the girls’
verbal and nonverbal communication pre-regression (2013). Their communication was analyzed
in terms of whether it was typical or atypical of all children in the same age range (9-12 months).
Bartl-Pokorny et al. observed communicative forms evident in the pre-regression period that
included various body movements, one gesture, and several vocalizations which served one or
more communicative functions. The body movements observed by Bartl-Pokorny et al. included
reaching, turning toward or touching a person, smiling, eye contact, and the gesture waving.
These behaviors are typical at the end of a child’s first year. However, unlike other children in
their first year of life, “(Pre)linguistic vocalizations such as canonical or variegated babbling or
the use of proto-words were not observed” (Bartl-Pokorny et al., 2013, p. 3136).
Fabio et al. (2009) also used video when conducting behavioral observations of the
individuals in a videotaped interaction with the researcher. Fabio et al. studied RS individuals
who were identified though the Italian Rett Syndrome Association. These individuals were
severely intellectually disabled, but had preserved ambulation. The Rett syndrome population in
this study were compared to a control group of girls who were of similar mental age; 18-27
months. The results indicate that girls with RS displayed significantly shorter average duration
of looking at the focal objects, longer than average duration of looking away, longer than
average length of looking at the caregiver’s face, and longer average duration of looking at the
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experimenter’s face. The girls with RS have a tendency to pay attention to irrelevant stimuli,
however, their positive attention to the human face and eyes may be used to facilitate learning.
Surveys and standardized tests have also been used to study girls in the Rett Syndrome
population. Didden et al., used the IPCA translated into Dutch that consisted of ten categories of
communication function, social convention, attention to self, reject/protest, request an object,
request an action, request information, comment, choice making, answer, and imitation. The
parent or caregiver who completed the survey was asked to identify if they had observed the
aforementioned potential communicative acts in the individuals with Rett syndrome whom they
had to have known for at least 6 months. Didden et al. discovered that the most common of the
communicative acts were social convention, commenting, answering, requesting, and choice
making. It is important to note that there was a significant difference between females with Rett
syndrome living at home versus those living in a facility, particularly when it came to eye
contact/gaze and laughing/smiling, and vocalizations. There were also significant differences
between individuals with epilepsy and those without (or in whom the epilepsy was treated). Age
was also a factor in communicative forms and functions.
Kaufmann et al. studied eighty girls with Rett Syndrome, using four standardized testing
instruments; the Screen for Social Interaction, Rett Syndrome Behavior Questionnaire, Vineland
Adaptive Behavior Scales, and a modified version of the Sett Syndrome Severity Scale. The
results of previous studies and the appearance of Rett syndrome on the Autism Spectrum in the
DSM-IV (Diagnostic and Statistical Manual) indicated a need for using more standardized
instruments in assessing autism as well as other neurobehavioral abnormalities in Rett syndrome
(2012). Kaufmann et al. assessed whether or not the possibility that autistic behavior was
persistent beyond the regression period of Rett syndrome in early childhood. With the data
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collected Kaufmann et al. determined that autistic behavior may persist beyond the regression
period. This is a key clinical issue because it could affect the target or course of therapeutic
interactions. Kaufmann et al. found no significant effects of age on social interaction scores in
children up to age 15 and they did not find a link between social interaction impairment and
other abnormal Rett syndrome behaviors. Kaufmann et al. also did not find a link between
autistic behavior and the clinical severity of Rett syndrome. Kaufmann et al. indicate that the
link between hand function and social skills as well as the independence between autistic and
anxious behaviors warrant further examination (2012).
To this date, however, girls with Rett Syndrome have not been studied in their own
homes, in the company of those who know them best, and in the places where they feel most
comfortable. Therefore, an ethnography was undertaken based on the Ethnography of
Communication Theory to study three individuals with Rett Syndrome using participant
observation. Using ethnographic research methodology, the focus of this study was on the
everyday experiences and events in the lives of Abby, Brianna, Brittany, and Evie, four girls
with Rett Syndrome. The perceptions and meaning attached to those experiences are expressed
by the researcher.
First and foremost, the researcher has an obligation to respect the rights, needs, values,
and desires of the individuals under study. Ethnographic research, particularly participant
observation, invades the life of the individuals studied and sensitive information is frequently
revealed. The following safeguards were employed to protect the individuals’ rights: 1) research
objectives were articulated verbally to the parents of the individuals so that they were clearly
understood. 2) Permission to proceed with the study was received from the parents. 3) A
research form was filed with the Institutional Review Board. 4) The parents were informed of all
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data collection activities. 5) The individual’s rights, interests, and wishes were considered first
when choices were made in reporting data. 6) The final decision regarding individual anonymity
rests with the parents (Creswell, 2014, pp. 208-209).
Research Questions
First, in what ways do girls with Rett Syndrome communicate in familial and other activities of
daily life?
Second, how families live with and interact with girls with Rett Syndrome?
Methodology
Ethnography
For some researchers, qualitative research methods are challenging. The way in which the
studies are set up, information is gathered, and findings are presented is far more vague in this
type of research with fewer stringent guidelines than that of quantitative research. However,
conducting qualitative research is necessary for academics to gain a more in-depth understanding
of people and the communication used by certain groups of people. For this study, the
ethnography method was chosen. According to Creswell, “Ethnography is a design of inquiry
coming from anthropology and sociology in which the researcher studies the shared patterns of
behaviors, language, and actions of an intact cultural group in a natural setting over a prolonged
period of time. Data collection often involves observations and interviews” (2014, p. 14). This
definition lends itself to indicating that ethnography would be the way to study the shared
patterns of behaviors, language, and actions of the Rett Syndrome cultural group. A group of
girls with Rett Syndrome can be deemed an intact cultural group using the ideas expressed by
Patton when he states, “Ethnographic inquiry takes as its central and guiding assumption that any
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human group of people interacting for a period of time will evolve a culture” (2002, p. 81).
Thus, ethnography seemed the most logical method by which to study this specific group of
people.
Sample
This study includes a homogenous sample, which according to Patton, “the purpose of which is
to describe some particular subgroup in depth” (2002, p. 235). Girls with Rett Syndrome are a
subgroup of the larger Autism Spectrum Disorders (ASD). According to the Boston Children’s
Hospital, “the syndrome is considered one of the autism spectrum disorders (ASDs), although it
has many other specific features that set it apart” (Khwaja, 2011). The first two families (three
girls) were self-identified as families with a daughter who has been diagnosed with Rett
Syndrome, thereby making them members of the homogenous sample. The family of the fourth
girl added to the study was selected through the Minnesota Rett Syndrome Research Association
website ("Minnesota Rett Syndrome Research," n.d.). The Health Insurance Portability and
Accountability Act (HIPAA) prevents people from outside the medical profession from gaining
access to patient lists. Thus, selecting girls who were already diagnosed with Rett Syndrome
whose families self-identified to participate in this study were the best option available.
Gathering Information
Information was collected by spending a minimum of a day with the girls and their families in
observation of their daily routines, including communication methods and interactions with
family members. While interviewing girls with Rett Syndrome is challenging because they are
nonverbal, I was able to gain information by observing their nonverbal communication, listening
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to their “voices” created by the use of technology, and interviews conducted with family
members.
Data Analysis
Data was analyzed in terms of previously conducted research. Themes were selected from the
literature review in order to make sense of the information gathered. Information from field
notes was separated into categories based upon the themes selected.
Time Frame
Research subjects were approached and observations conducted over the course of more than a
year. Each participant observation was determined to take no fewer than ten hours with the
individuals and their families. However, the longer the observation period, the more information
that could be gathered through interviews and observation.
Interview Guide
Girls with Rett Syndrome need to be observed because they cannot truly be asked interview
questions.
Questions for the family
1. What is it like to live with a family member who has Rett Syndrome?
2. How does having a family member with Rett Syndrome impact your life on a daily basis?
3. What do you do to help take care of your family member with Rett Syndrome?
4. What is the best part of having a family member with Rett Syndrome?
5. What is the most challenging part of having a family member with Rett Syndrome?
6. How do you communicate with your family member with Rett Syndrome?
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7. How do you see other people communicating with your family member who has Rett
Syndrome?
8. How does your family member with Rett Syndrome respond to music and movies?
9. If early detection of Rett Syndrome was possible, would you want to know if your family
member has Rett Syndrome? Why or why not?
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Background on Research Subjects
Abby is a 6 year old girl who was diagnosed with Rett Syndrome within the two years.
Her immediate family includes her mother and her mother’s fiancé, her soon-to-be step sisters,
her sisters, her brother, and her soon-to-be step brother. Abby currently lives at home in a town
with approximately 4700 people. She spent her pre-school years at the local school in a program
sponsored by the community education program. Abby’s family and the local school district
have determined that it would be in Abby’s best interest to send her to a nearby school in a town
with roughly 160,000 people that would specialize in teaching children with special needs.
Everyone involved is excited about the potential for Abby to connect using the latest in
communication technologies. The closest person to Abby on a regular basis is her mother, a
currently unemployed elementary school teacher. Abby also has a PCA (personal care
attendant). However, her current PCA is her 17 year old sister.
Comparatively, Brittany and Brianna are 20 year old identical twins. Their immediate
family includes their mother and her boyfriend, their younger brother and sister, their father, and
their mother’s boyfriend’s two sons. Brittany and Brianna currently live at home with their
father, sister, and brother and attend the local school in their community with a population of
740. Although Brittany and Brianna graduated from high school in 2012, they have continued to
access programs through the local school which keep them occupied and intellectually
challenged. Brittany and Brianna’s mother is a paid parent caregiver, so she manages their care,
writes their care plans, and dispenses their medicine on a daily basis.
Evie is a 7 year old. Her immediate family includes her mother, father, and brother.
Evie’s family, similar to the other girls’ families, has a dog too. Evie lives with her family in a
home that is adapted to her needs. Evie’s shower, bedroom, bathroom, and home entry are all
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adapted for her. She attends one of the local elementary schools in a town with a population of
40,000. The school building is old, but adaptations have been made so that Evie and other
special needs children are able to attend regular as well as special education classes. Her mom is
also paid parent caregiver. Evie’s Mom manages the budget they have been allocated by the
state and county to update their home, employ four caregivers, and maintain her equipment as
well as personal care items. She also dispenses Evie’s medicine and medical treatments.
Desire to Communicate
According to Donal Carbaugh, “The [Ethnography of Communication] is concerned with
(1) the linguistic resources people use in context, not just grammar in the traditional sense, but
the socially situated uses and meanings of words, their relations, and sequential forms of
expression” (2007, p. 2). It is through this lens that the communication skills of Abby, Brittany,
Brianna, and Evie were observed. These four girls made several attempts to communicate with
everyone around them on a regular basis.
Whether previous research agrees or not, the Rett Syndrome handbook it indicates, “Girls
with RS (Rett Syndrome) show a strong desire to communicate despite their lack of expressive
language and loss of functional hand use” (Hunter, 2007, p. 279). Many girls with RS have the
mental ability to speak because research has indicated the speech areas of the brain are intact, but
they lack the motor control or nervous system connections to do so. Abby frequently
communicates with her family members. As a 6 year old, she still maintains her ability to use
her hands, arms, and legs. Abby indicates to family members that she wants something or does
not want something based on screams and/or throwing things. Her favorite things to throw are
crayons, coloring books, magazines, food, and anything she can get her hands on. If her family
members do not meet Abby’s demands, she will continue to throw things and scream, until she
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gets what she wants. Her desires are also communicated by family members and/or her PCA
attempting to interpret her gaze. According to Hunter, “Girls with RS seem to have such
expressive eyes that often speak for them” (2007, p. 282). This is most definitely true of Abby.
If she wants something, it is usually best to determine where her gaze is leading, so that one may
guess what it is that will pacify her current desire and stop the tantrum.
As with Abby, Brittany and Brianna attempt to communicate regularly. Didden et al.,
discovered that the most common of the communicative acts were social convention,
commenting, answering, requesting, and choice making (2010, p.116). These are the types of
communication most frequently exhibited by Brianna and Brittany. Since they are significantly
older than Abby and Evie, Brittany and Brianna are more reserved in their communication.
While they still interact with those around them, their family members often make choices for
them concerning their diet, desires for clothing, desires for television programming or other
entertainment, desires for activities, etc. During observation, Brittany and Brianna spent their
Saturday in a similar manner to other 20 year olds; they lounged around the house in their flannel
pants, watched TV, listened to their mother talk with friends, fought with their siblings, and ate.
However, unlike other 20 year olds, Brianna has a feeding tube and seizures on a regular basis
and neither Brittany nor Brianna has maintained the ability to walk or talk. Along this vein,
Didden et al. state, “higher percentages of females who showed some forms/functions [of
communicating] were found in those who lived at home, who had no epilepsy and who were
relatively young” (2010, p. 116).
While Evie is only 7, her communication and mobility skills are far more limited than
Abby’s. Evie functions similarly to Brittany and Briana in her ability to communicate. During
observation, Evie spent much of the time sleeping. Her mother, PCA, and Special Education
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Paraprofessional (para), explained that Evie usually has seizures one day a week. When she is
about to have an episode of seizures, she spends a large part of the day sleeping. As it turns out,
the night following observation, Evie had numerous seizures.
Luckily, Evie meets some of the criteria set forth by Didden et al. to be able to
communicate more effectively. She still lives at home, she is young, and she has minimal
seizures (2010, p. 116). So, when Evie was awake, she participated in summer school by
responding to choices offered by her para, teacher, nurse, and other adults in the classroom. She
was able to select answers on a worksheet based on eye gaze and choose the color paper she
wanted to use for her art project. At home Evie was able to let her mom know she wanted to go
to the park, she was done using the bathroom, and she wanted to listen to music. Again, Evie
used eye gaze to select from yes and no choices on a board placed in front of her, so her mom
could understand what she wanted.
In these instances, Evie seems to have been using what Fabio et al., call “eye pointing.”
They explain, “[RS girls] often remain visually attentive to objects and people, tracking their
movements and even showing preferences by means of ‘eye pointing’” (Fabio, et al., 2009, p.
330). Brittany and Brianna exhibited the means of ‘eye pointing’ to indicate they enjoyed seeing
a friend of their mother’s whom they had known all of their lives and they indicated they were
uneasy about a new person in their home. Abby and Evie also seemed to be uneasy about a new
person in their homes. Abby displays her distrust of new people by panicking and throwing a
tantrum, while Evie stuck out her bottom lip and cried. Thus, all of the girls seem to be able to
express emotional reactions, in the form of laughter, excitement, and crying which is considered
by Fabio et al. to be less mechanical and more a part regular of human interaction.
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When an unfamiliar person appears in the home of Abby, Brittany, Brianna, or Evie, the
girls are challenged to accept or dismiss them as are many other children. Abby, Brittany,
Brianna, and Evie, however, do not possess the ability to express their distaste for strangers
verbally. They all are able to welcome people whom they enjoy and know well though through a
limited range of behaviors for communication including eye gaze or pointing, body movements,
leading, clapping, reaching, pushing away items, vocalizations, and tantrums (Sigafoos et al.,
2009). Brittany and Brianna showed affinity to the family friend who stopped over to watch a
basketball game on TV through eye gaze, pointing, and body movements as well as vocalizations
and reaching. Abby shows affinity to family friends by clapping, leading, eye gaze, pointing,
vocalizations, and body movements. When Evie’s Dad returned home from setting up his
classroom for the new school year, it was easy to see Evie’s affinity for him through her facial
expressions, eye gaze, and gesturing.
Family/Caregiver Interpretation
Carbaugh, explains that in an Ethnography of Communication, “the way verbal and
nonverbal signs create and reveal social codes of identity, relationships, emotions, place, and
communication itself” (2007, p. 2). All of the girls communicate both verbally and nonverbally.
Though their verbal communication is limited to simple sounds, the girls create and reveal social
codes through their communication. Woodyatt states in the study she reviewed the respondents
(parents) indicated their children expressed will using vocalizations and motor acts. Usually, the
high level motor acts consisted of eye-pointing (2009, p. 46). This would likely be an
observation corroborated by Abby, Brittany, Brianna, and Evie’s caregivers. The girls will let
their caregivers know what they want and what they do not want based on their nonverbal
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communication. With Abby, she will scream and/or throw things as well as laugh and cry to
indicate what she likes and dislikes.
Brittany has the ability to express her likes and dislikes, particularly when it comes to
food by turning her head away from the food she does not want and turning her head toward food
she does want. Brittany’s mother, sister, and brother all indicate she loves junk food. When she
is presented with chips, Cheetos, sweets, or anything else that is considered junk food, she will
continue to eat and she works harder to eat junk food than at any other time. Brittany’s father
suggested earlier this year that it might be easier on her and her caregivers if she were to have a
feeding tube inserted, but her mother argued that Brittany really likes her food. Brittany’s mother
feared that Brittany would give up on exerting her will, if she were to no longer be able to eat the
food she loves so much. Fortunately, when the feeding tube was placed, Brittany was able to
continue eating while getting the extra nutrition she needed and some of her medication via the
feeding tube.
Evie is similar to Brittany in her ability to express her likes and dislikes. She also
definitely likes junk food. While at summer school, Evie focused her gaze for the longest period
of time when the snack cupboard was open. She definitely had trouble choosing between a
chocolate pudding cup, applesauce, and puffcorn. While Evie does have a feeding tube, she also
is able to eat foods she does not have to chew too much. It was also interesting to see Evie
communicate her desires when her mom asked her questions to which she had a distinct opinion.
Evie’s mom asked her if she wanted to go to the park, if she liked the family dog, and if she liked
her brother. With the yes/no board in front of her, Evie was able to use her eyes to give her mom
specific answers with some attitude. Again, when asked whether she wanted pie or cheesecake
for dessert at the restaurant, Evie had trouble making a choice. Her gaze just went back and forth
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as if this was one of the most difficult decisions she has ever been asked to make. Evie’s
response seems accurate in this situation because frequently when 7 year olds are asked to
choose between two types of dessert, they have trouble choosing.
Woodyatt shared the family members of the females in the study she reviewed explained
the individuals with Rett syndrome had lost the ability to eat independently, although few (3)
individuals had feeding tubes. The rest were unable to chew, so their food consistency was
adjusted and they sat in a specially adjusted chair during meals. Participants had breathing
dysfunctions, ground their teeth, and had other oral problems, but these did not seem to
significantly impact their eating. Brittany also has a special chair that she uses during meals,
which is almost like a high-chair for adults and she wears a bib. However, her breathing
dysfunctions, teeth grinding, and other oral problems do not significantly impact her eating.
Brittany’s mother does seem to know what her daughter likes to eat and she provides Brittany
food in an adjusted consistency, so that Brittany can enjoy it.
As mentioned earlier, Evie’s food is of an adjusted consistency. But, instead of sitting in
a high chair while eating, Evie sat in her wheelchair or her “walker.” Evie also has trouble
breathing (for which she is provided nebulizer treatments) and her caregivers explain that she
used to grind her teeth more regularly. The continued teeth grinding and breathing troubles do
require Evie’s food consistency to be changed, but she is still able to eat. Evie’s mom likely
knows what food she likes to eat, but Evie is still required to communicate her desire for a
particular food choice through eye gaze.
At this time, Abby continues to feed herself. She does so with a plastic plate and
children’s utensils, but Abby often uses her hands to put the food in her mouth. Abby’s mother
also seems to know what she likes and dislikes. Abby’s favorites also include junk food, but
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meat and noodles top her list. The food is frequently provided to Abby in an adjusted
consistency, though she does not wear a bib or sit in a special chair at this time. Abby’s tantrums
are frequently pacified with food, but it does seem she continues to enjoy food and her teeth
grinding does not deter her from eating.
Aside from eating, caregivers must attempt to determine what is important to girls with
Rett Syndrome. As Sigafoos et al. mentioned, the vocalizations, facial expressions, eye gazing,
and pointing could indicate more social communicative functions which would be more difficult
to interpret (2011). With Brittany and Brianna this could definitely be the case. Upon
encouragement, Brittany fought with her brother. Brittany’s brother was trying to prevent her
from rubbing her eyes, which Brittany does so often that her eyes are sunken in and her
eyebrows are almost entirely rubbed off. Although Brittany did not win this physical
confrontation with her brother, she certainly struggled to get her arms away from his grasp;
especially when encouraged to do so. In the end Brittany’s mother covered her with a weighted
blanket, so she would not rub her eyes and her brother would no longer have to monitor his older
sister. In this instance Brittany was like the girls described by Marschik et al., when they
explained girls with Rett syndrome have severe intellectual disabilities, autistic-like behavior,
restrictions to their communication, and hand-gestures typical of the disorder including handwringing or washing-like behaviors.
It is important that all people involved with Rett Syndrome girls interpret some of these
behaviors as communicative in nature, rather than just a reflexive response (Sigafoos et al., 2011,
p. 693). Brittany and Brianna’s family will explain that Brittany is definitely the princess-type,
she would prefer to have things handed to her and would rather not work too hard. They will
also share that Brianna is a social being and prefers to work at whatever challenge is presented.
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While their family will express this about the girls’ personalities, they will not wager a
guess as to what the girls are thinking when asked, without a clear response from the girls
themselves. If Brittany and Brianna do not indicate what they want or do not want, what they
like or dislike, using nonverbal communication, then their family members do not try to talk for
them. With Abby, her family members frequently try to speak for her. She is the youngest child
in the family, so all of her siblings attempt to interpret what Abby is thinking, feeling, or
wanting. Evie’s family and caregivers are tasked with interpreting her communication too. Her
older brother does not speak for her and neither do her parents or caregivers, but they seem to
have spent enough time with Evie that they know what she is trying to express. They are at least
able to make a more educated guess about her desires, when compared to the efforts of a
complete stranger. Evie smiles when her brother, dog, or dad enters the room. She also smiles
when her mom tickles Evie’s face with her hair. In a similar manner, Evie communicates she is
disgusted when her mom or para smacks her chest to get her attention.
Unlike the other girls, upon first meeting Abby, it would seem as if she is able to
communicate using words. Abby uses names/sounds to indicate people, especially the people
she sees frequently or those she enjoys being around. Abby’s communication is similar to what
is described in The Rett Syndrome Handbook, “at times she may say a correct word in the middle
of a string of babble. Most often, her words come at random, when she is not concentrating on
speaking. She may blurt out an appropriate word when you least expect it, and then be unable to
repeat it ever again” (Hunter, 2007, pp. 304-305). For example, Abby has been heard saying the
names of her sisters, when she is frustrated with them. While the names were uttered clearly
with all of their syllables, they seem to have been spoken spontaneously and have rarely, if ever,
been repeated.
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When someone is trying to interpret someone else’s thoughts, feelings, and desires, it is
difficult to know if the assumptions are accurate. Sigafoos et al., mentioned that if the behaviors
are communicative and are interpreted incorrectly, it could end up with the child receiving
objects he/she does not want and may find aversive (2011, p. 693). This is something that seems
to happen to Brittany because people (not always those who know her best) think that she ought
to love animals. It seems like a common perception that disabled individuals like animals,
especially small, furry ones. However, Brittany despises animals and nonverbally displays
distaste for them when presented with any animal, including the family dogs. With all of the
girls, it is obvious as Bergström-Isacsson et al., set out to determine that girls with Rett syndrome
communicate through the manner in which their facial expressions are recognized and
interpreted by those around them.
Although it is not challenging to keep Brianna motivated, Hunter explains, it is often
challenging for others to interpret the body language of girls with RS, but it is important to keep
them motivated. Brianna seems to be easily motivated to try new things and to continue to do
whatever she can to maintain relationships within her social world. Abby also enjoys relating to
people around her, especially when she struts around her house with one hand on her hip and the
other on her magazine or coloring book doing what has been deemed her “Abby-tude.” Abby
enjoys attending school, playing with her friends/family on the trampoline, and spending most of
her summer days in the pool. She does not seem to mind being engaged and motivated in making
choices or messes. Abby enjoys playing in the mud and with dirt the same as most children do.
She also enjoys tossing things into the pool for others to retrieve. It appears that Abby is
happiest when she is outside.
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Keeping Evie motivated seems to be more of a challenge. While Evie is only a year older
than Abby, the symptoms of her Rett Syndrome are more advanced. As well, the medications
that minimize Evie’s seizures make her sleepy, so it becomes difficult to keep her motivated.
When Evie is sleepy, she will sleep. She sleeps in her wheelchair on the way to school, while at
school, and upon returning home, until she feels she has had enough sleep. This is a challenge
for Evie’s mom, para, and PCAs because they want Evie to complete tasks and learn information
while she is in school. When she is sleepy, they have a way of motivating her that may seem odd
to people who do not know Evie, but they tap on her chest, palm open, very rapidly. It almost
seems that those who are close to Evie are pounding on her chest to keep her motivated and to
get her to do the work that challenges her.
Motivating girls with Rett Syndrome seems to be essential in teaching them to use new
communication devices, however, when Brianna and Evie do not want to do something, they
communicate this clearly. Their caregivers call it “playing possum.” If they do not want to do
something, Brianna and Evie will close their eyes and pretend to be sleeping. While this does
not seem to work very well for Evie because someone will just pound on her chest to get her
attention and to get her to do what they want, it might work for Brianna. According to Brianna’s
mom, if she does not want to work with a particular teacher or professional, she plays possum
and does not do anything that individual requests.
With all of the girls, behaviors have been interpreted by the RS individuals’ parents and
caregivers to indicate request for interaction or objects, refusal of food, greeting, pleasure, or
pain (Fabio et al., 2009, p. 330). The behaviors may indicate pain, but pain does not seem to
affect Abby, Brittany, and Evie in the way it affects others. While jumping on the trampoline,
Abby fell and cut open the area near her eye. Although the gash seemed large enough to require
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stitches, Abby did not seem to notice. She seemed much more upset with the fact that she was
dirty from the blood.
Brianna does not seem impacted by pain either. People who experience seizures do not
usually know when one has occurred, but they usually are made aware of the situation after a
seizure has occurred. While Brianna’s seizures occur regularly when she tries to sleep, they do
not seem to bother her in the manner in which they cause her brother and sister to feel uneasy.
Both Brianna and Evie have a VNS (Vagus Nerve Stiumlator). It is a device implanted
under their skin that is swiped with an external magnet when they have a seizure to minimize the
length of the seizure or stop it all together (Schachter & Sirven, 2013). While this would seem to
outsiders to cause pain, neither girl seems to indicate pain in her nonverbal communication
following the “swiping” of the VNS.
Hunter (2007) indicates the challenge for parents is to help the girls express themselves.
The degree to which an RS child is able to communicate varies from individual-to-individual
because all children have their own strengths and weaknesses. Not only is this true for girls with
RS, Abby, Brittany, Brianna, and Evie in particular, it is true for all persons to be considered as
individuals with natural strengths and weaknesses, disabilities and abilities, or talents and
challenges.
Love of music/movies
Bergström-Isacsson et al., believe that girls with Rett syndrome “have clear musical
preferences,” so they made their observations while the girls they studied were listening to music
their caregivers/parents thought they enjoyed, music their caregivers/parents thought they
disliked, and a selection of music chosen by the researcher (p. 789). While it can be understood
that almost everyone has musical preferences, it does seem that Abby and Brittany prefer to
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watch movies. The movies they love include music because they are Disney movies. In fact,
Abby and Brittany have worn out their copies of Tangled, Little Mermaid, The Princess and the
Frog, etc. and had to replace them. Obviously, they have preferences in movies and music.
Both Abby and Brittany are asked to choose which movie they will watch by selecting from two
or more movies presented to them. These two girls are also fans of the Disney Channel. It is the
one they prefer, indicating their preferences through positive facial expressions and happy
screams. If they dislike what is on TV, the people around them will know that too. Abby will
strike the counter near a small TV, if she dislikes a show and display disgust in her facial
expressions. She will also throw things. If Abby likes a TV show, she will hit the counter with
more frequency and rapidity as well as display positive screams and facial expressions. And, if
Abby dislikes a show on the large flat-screen TV, she will rock the stand it is on, until the TV
almost tips over on top of her.
Brittany is fifteen years older than Abby, so she expresses dislike more subtly. When
Brittany’s TV times out, as it often does with the satellite dish on the farm where she lives, she
will grunt or whine in frustration. Brittany does this until someone notices and changes the
channel or selects a button on the remote which will turn the satellite dish back on again.
Although this seems like the norm, Brittany’s family and caregivers will often pay attention to
the TV too, so they will correct the problem as soon as they notice it without Brittany having to
do anything. To an outsider, this is how the interactions appear to happen, but it might be more
like Bergström-Isacsson et al. explain, “This study indicates that it is crucial to pay attention to
all the small details in face movements one by one” (p.793). It is highly possible that the people
who are around Brittany most often, already notice the small details in her facial expressions and
ultimately know it is time to change the channel or restart the satellite TV.
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When presented with the idea about preferences for movies and music, Evie’s mom
smiled and said she definitely likes a particular kind of music. While Evie also watches Disney
movies, the Disney Channel, and PBS (Public Broadcasting System), these are mostly as a result
of her age and what her caregivers perceive a 7 year old girl would like. Music is all together a
different story for Evie, though. In the late afternoon, after a trip to the park and just before her
dad returned from work, Evie listened to a book on CD and then some music from vacation bible
school (VBS). Evie had recently attended VBS, where they sang along to this CD and they acted
out some of the songs with hand motions. Evie’s face lit up and her eyes widened when she
heard, “This Little Light of Mine.” Her mom helped her to do the actions for the song during the
first few verses, but then Evie attempted to do the actions herself, even with her limited hand and
arm movements.
Music can also be used to get Abby to sit still while getting her hair brushed and to keep
her attention focused for a few minutes, so she can complete a task. In The Rett Syndrome
Handbook, Hunter, explains that for many girls with RS music is a form of communication
because they enjoy listening, but they can also use music to express emotions or to communicate
their knowledge or choices. This seems more like it describes Brianna. When presented with
her tablet computer, Brianna will continue to press a button that will make the people on screen
dance and make the computer play songs she enjoys. Brianna also enjoys listening to books.
Brianna is most content listening to audiobooks that are appropriate to her age. As her mother
explained, Brianna just finished reading the Hunger Games series.
Not only does Brianna enjoy reading, she has a positive orientation toward human faces
and eyes. This orientation is something discovered by Fabio et al. in their research (2009). They
explain RS girls have a positive orientation toward human faces and eyes which may be used to
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facility learning, but the orientation toward human faces definitely shows intention and
preference for social stimuli. While this seems to be mildly true for all four girls, it seems most
important to Brianna and Evie to have human contact. When a new person enters the room,
Brianna’s face lights up and she careens her neck, so she can see who is there. Whether it is
someone who is new or whom Brianna has known for a while, they will be greeted by a smile
and look of curiosity. Evie greets new people with a warm smile and a look of curiosity too. Her
mom explains that Evie rarely has trouble meeting new people. Since Evie has been socialized
by her parents when they have taken her out to eat, to sporting events, camping, etc., she does
not seem to have much difficulty adapting to different situations. Evie plays softball on a team
called, Miracle League, and she attends adaptive dance classes. It seems important to Evie and
her family that she stay involved. This seems to be a great way for Evie to continue to respond
toward human faces to show intention and social stimuli.
Abby also appreciates human faces and eyes, but her excitement is less refined than
Brianna’s or Evie’s. Abby greets people with the same excitement as other children her age.
The challenge for Abby is to contain her excitement because she gives “love taps” to all of the
people she knows well and “kisses” them when they arrive. Her “love taps” sometimes hurt
because Abby does not know her own strength and the “kisses” she shares do not involve
physical contact because this is something that makes Abby uncomfortable. While Abby does
certainly enjoy people she knows well, she does not do well with strangers. Abby’s family have
kept her from participating in her world as much as Evie, Brittany, and Brianna have, so she
dislikes interruption in her daily routine and she prefers to keep strangers at bay.
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Everyday situations
While the girls are unique in their lives every day, as Carbaugh mentions when
discussing an Ethnography of Communication, it is important to understand the various media
used when communicating, and the comparative analysis. For example, this includes
understanding how the girls use online "messaging" and how it compares to face–to–face
messaging in their daily lives (2007). Abby, Brittany, and Brianna have Facebook accounts.
They use these accounts on their tablet computers with the help of their caregivers to learn about
what is going on in the world around them and to update their family and friends on what is
going on in their lives. This is similar to the manner in which most people use Facebook, the
major difference though is that Abby, Brittany, and Brianna cannot type or speak into a device
that will type for them. So, the information that is available to them online must be read to them
and the information they post must be posted by one of their caregivers (usually their mothers).
Currently, Evie has a DynaVox AAC (Alternative and Augmentative Communication)
device. In this past this device has allowed her to communicate with classmates, teachers,
caregivers, and others. However, since experiencing numerous seizures, Evie’s ability to use her
hands for even the simplest of functions has become difficult. So, Evie has been testing out a
new device called a Tobii. The Tobii will allow Evie to communicate through eye gaze alone.
She will be able to look at information presented on the Tobii board and will be able to use it to
communicate her needs, wants, desires, etc. Exactly when Evie will get the Tobii is anyone’s
guess though because this device needs to be funded through Medicaid and funding something
usually requires a painstaking amount of paperwork and waiting, according to all of the girls’
moms. While Evie does not have a Facebook account and is not yet connected to any other form
of social media, her mom likes to tell a story about Evie interrupting her conversation with the
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DynaVox device. Evie’s parents were cleaning up from supper and the DynaVox was lying in
front of Evie on the table. Her parents were discussing going to the park while they were
cleaning up, and Evie interjected by letting her parents know that she would like to go to the park
and to which park she would like to go.
According to Fabio et al., girls with RS prefer social stimuli, but it is useful to limit
external stimuli in order to allow them to focus on selected and relevant stimuli. It is important
to put only the materials necessary for the task at hand in front of the individual with RS and the
materials must be presented in an organized manner. Fabio et al. explain, “in the future, close
observation of the facial expressions, gestures, and other behaviours is needed to identify their
possible communicative functions in everyday situations” (2009, p. 335). This is certainly true
for Brittany and Brianna because they work with the school administrative staff on a daily basis
to run errands for the school and take items to the local post office. Brittany and Brianna use
their nonverbal communication and the applications on their tablet computers to communicate
with the Home Health Aide and the paraprofessional who assist them at school. Abby currently
uses American Sign Language (ASL) and cards with words and images on them to communicate
with her Personal Care Assistant, her teachers, and her mother. Others who understand what she
is trying to communicate using the cards and ASL will also engage Abby in these forms of
communication. Although Evie has assistive technology similar to that of Brittany and Brianna,
external stimuli also need to be minimized when asking her a question. This is of particular
importance when Evie uses the yes/no board because sometimes her eye gaze is extremely subtle
and it is difficult to determine which choice she is making.
In her review, Woodyatt explains that the researchers she studied noted communication
behaviors indicated social interactions were important to females with Rett syndrome and these
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situations could be targeted to facilitate communication. According to their mothers, all four
girls enjoy social interactions, to a point. Abby’s classmates who spent time with her in preschool understand Abby and Abby’s needs, but new children seem to have trouble accepting her.
In order to make Abby more accepted at her school, Abby’s mother presented her new
classmates with information about Rett Syndrome in a coloring book form.
Brittany and Brianna had the same classmates throughout their time in school. According
to their mother, the girls were able to garner kindness from even the biggest bully on the
playground. They were also able to lend a supportive ear to classmates who were going through
tough times. Brittany and Brianna participated in their school from Kindergarten through their
senior year, their mother never let them miss out on an opportunity and their classmates took
opportunities to include the girls in all that they did. Brittany and Brianna attended prom and
were showered with applause from their entire community. They also participated in their
graduation ceremony with help from their classmates and not from their parents, who were
politely excused from the room set aside for graduates only.
As mentioned earlier, Evie enjoys her social interactions in Vacation Bible School,
playing softball, and participating in adaptive dance classes.
The research evaluated by Sigafoos et al. indicates a need for nonverbal or alternative
modes of communication to create more effective communication methods for this population.
Knowing and understanding this will be advantageous for Abby and Evie. They will grow up
with new and/or improved technology which will allow them to communicate more successfully
than Brittany and Brianna have been able. Brittany and Brianna’s family does a lot more
guessing when trying to determine what the girls want. Even though their mother says she
“knows” what they want after twenty years together, Hunter, in The Rett Syndrome Handbook
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explains that developing choice making skills can mean the difference between girls with RS
becoming passive or active in their world. In recent years, Brittany and Brianna have benefited
from augmentative and alternative communication. They also benefit from technology that uses
eye blinks, from using yes/no techniques, flash cards, picture exchange communication systems,
facilitated communication (using computers), communication boards, calendar boards, switches,
head pointers, and voice output devices. While Brittany and Brianna’s family is excited to
embrace these communication devices, they believe someone like Abby or Evie who will grow
up with these devices will have an ever better chance to express herself. This means that it is
essential for Abby’s and Evie’s families to choose vocabulary for these modes of
communication, so that she is able to communicate in situations she finds herself in daily.
Woodyatt explained it like this, the research she reviewed suggested the use of the
communication aids was necessary and they needed to be introduced early with the user’s
communication environment, needs, and skills taken into consideration (2009).
Thankfully, Evie’s family has already implemented the DynaVox device with her
because as Woodyatt indicated, starting early will give her an advantage. While Evie can no
longer use the DyanVox, it is likely that a transition to a Tobii will not be too difficult for her.
Unfortunately, Abby is already 6 and she has never used AAC. This will likely pose a problem
for helping Abby to learn this technology, but the impact has yet to be seen because she will not
have the technology until she enters Kindergarten.
Early detection
Bartl-Pokorny et al. conducted a study to determine if there were any early indications of
Rett Syndrome in girls who would eventually be diagnosed. The research is the first of its kind
to study girls prior to the onset of Rett Syndrome related regression. Although Bartl-Pokorny et
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al. determined there was some indication of Rett Syndrome in girls prior to regression, they
suggested further research be conducted because their method was limited analysis of home
videos taken by the parents prior to diagnosis. Therefore, Bartl-Pokorny et al. believe it is
necessary to determine if these indications were present in the girls’ lives throughout or only
present during the duration of the videos.
If the opportunity presented itself, would Abby, Brittany, Brianna, and Evie’s parents
have wanted to know their daughters would be diagnosed with Rett Syndrome? At one point,
they all might have wanted to know, so they could have been prepared. Currently, however, they
seem to feel that these children came into their lives to teach them and others around them how
to live every day to its fullest and to love with all their hearts.
Brittany and Brianna’s mother has served as the leading contact for Rett Syndrome in
their state and has worked with many of the leading researchers as well as advocates for Rett
Syndrome. While she continues to admire those who search for a cure for their daughters,
Brittany and Brianna’s mother has decided that it is more important to spend time with them. If
their lives are shortened by Rett Syndrome, their mother wants to spend as much of it with them
as she can. She explains that to continue to search for a cure is an awesome responsibility which
she is glad others are able to do. However, she believes that if she is searching for a cure that
means something is wrong with her daughters and they need to be fixed. In her eyes Brittany and
Brianna are perfect just the way they are and fixing them is not necessary.
Conclusion and Future Study
While ethnographic research gives a glimpse into the lives of people who we might not
otherwise understand, the research undertaken here barely scratches the surface of understanding
what it is like to live with Rett Syndrome. It would be advantageous for future research to
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include in-depth study of the lives of more girls with Rett Syndrome as well as an opportunity to
understand the relationships they have built with the people they interact with regularly.
Knowledge of how the girls interact with their health care providers, aides, caregivers, family,
and friends would allow for a name and a face to be given to the statistics that currently define
girls with Rett Syndrome for the academic population.
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