Rett syndrome is a complex, progressive,
neurodevelopmental disorder, which causes profound disabilities, affecting one in every 10,000 to 15,000 girls and women, and
a very small number of boys, and possibly men, as well.
Difficulties with communication are of great concern to their parents and carers, who are
often frustrated because they want to help, but don't know where to begin. Most
individuals with Rett syndrome do not speak, however, there is much that a
Speech and Language Therapist can do to enable the individuals (and their
families and carers) to communicate about the things that are important to
them, by providing the right kinds of AAC support.
Knowledge of communication,
language and speech development in Rett syndrome is very limited. Reading the published results can be misleading - for example, some of the earlier research did not include modified assessment procedures, and the
results have been interpreted as showing that the individuals tested
perform at early levels of pre-intentional communication development. Although
many parents and carers believe that understanding and comprehension skills
have developed further, gathering evidence to prove this was difficult, until eye gaze technology helped us to gather better data.
A pilot study recently published in the April edition of the journal of Paediatric Neurology shows that people with Rett Syndrome need better methods of assessment.
I have copied detail of this study from the Internet:
"Girls With Rett Syndrome Find Their "Voice" In Eye-Gaze Technology"
" Special eye-gaze technology now being used in the Department of
Neurology at The Children's Hospital at Montefiore (CHAM) is revealing
the hidden, inner world of children who have Rett Syndrome, a rare and
spectrum disorder that primarily affects little girls. It is a
neurological disease in which mobility and autonomic functions are
severely impaired, seizures and orthopedic problems are common, and the
children lose functional hand use and the ability to speak.
"These girls are imprisoned in their own bodies," said
Aleksandra Djukic, MD, Director of the Rett Syndrome Center at CHAM,
which currently treats 120 girls and is the tri-state's only specialty
center for this genetic disease. "They cannot communicate with the world
in normal ways such as talking or using gestures. The eye-gaze
technology is helping us to unlock the girls' minds. It brings smiles to
us and to their parents, because for the first time we have proof of
their mental activities. But it also imposes a huge obligation to
properly advocate for these children."
One patient is Maisy, a five- year- old from Manhattan. At
twenty months, she tested positive for one of many mutations in the gene
MECP2 that cause Rett Syndrome. Soon after, she began to deteriorate in
the classic and heart-rending Rett Syndrome pattern, with the onset of
seizures and loss of hand use and speech. Her parents, both
professionals---her father is a researcher and her mother an
attorney--had consulted their pediatrician, researched the disease
online, and trekked halfway across the country to meet with specialists,
trying to find guidance about what to do.
"There was a lot of misinformation out there, and no hope. We
were facing an uncertain future," said Maisy's mother, Heather. "To have
a child in a wheelchair, I can do that. But to have a child who cannot
communicate with me is terrifying, especially if there is something
wrong and I don't know what it is. Though I felt I was communicating
with her, there was no proof she understood what I was saying."
"The eye-gaze test shows that there is a cognitive process going on. She
is able to point to something, to understand a question and to
communicate," said Dr. Djukic. "You're a human being if you can
communicate through language. The eye- gaze technology opens up the
world of communication for these girls."
Dr. Djukic is confident that the very expensive eye-gaze system
(the cost varies between $10,000 - 15,000), if made available in schools
and in homes, could be programmed for practical applications - from
learning lessons in the classroom to choosing between oatmeal and apple
sauce at breakfast with the family, and playing games as any other child
likes to do."
A DESCRIPTION OF RETT SYNDROME
Although signs of Rett
syndrome (RS or RTT) may not be initially obvious, the disorder is present at birth and
becomes more evident during the second year of life. People with Rett syndrome
are profoundly and multiply disabled and highly dependent on others for their
needs throughout their lives. Initially, the disorder was thought to be
a degenerative disease, causing early death, but that is no longer considered
to be true; many women have been identified in their 40's, 50's and 60's. In
the past, RS was also misdiagnosed as autism, cerebral palsy and generalised
profound learning disability because the developmental signs of the Rett
disorder are similar to these other disorders. It is possible that there are adults and children who have not yet been given the correct diagnosis.
The disorder is now known to be
caused by a mutation in the MECP2 gene, which produces a protein critical for
brain development. The gene, located on the tip of the X chromosome, was
identified in 1999 by researchers at Baylor College of Medicine in Houston.
Rett syndrome is now confirmed in most cases by carrying out a genetic test and
by taking a detailed clinical history. The MECP2 gene has been found in more than 80% of
the individuals who have been tested. The
MECP2 organisation is “collating and displaying mutation and symptom
information from Rett Syndrome patients to allow the analysis of how symptoms
correlate with MeCP2 mutation status” – see
Revised diagnostic criteria were
developed in 2011.
If a girl carries the faulty gene
for Rett syndrome on one of her X chromosomes, the other normal X can
compensate to some extent, and although she will have symptoms of Rett
syndrome, this condition is still compatible with life. If a boy carries
the same faulty gene on his single X chromosome, he has no normal X to
compensate for the fault. The Rett syndrome gene is so important in the early
development of the embryo that if it is not working at least partially, the
pregnancy will not become established. This is why so few boys are born with
Rett syndrome. It is likely that any surviving boy who has Rett syndrome
will have mosaicism (not all cells in the body have the abnormal gene)or has additional X chromosome (Kleinfelter syndrome).
Rett Syndrome follows a staging
pathway, which is variable and specific to each individual.
The syndrome is named after Dr.
Andreas Rett, a pioneer in the care of mentally and physically handicapped
children in Austria, who first described the features of the syndrome in two
papers published in the German language, in 1966. His research was later
published in English in 1977. Unaware of Dr. Rett's work, Dr. Bengt Hagberg in
Sweden had seen similar girls as early as 1962. In 1980, he gave a presentation
of 16 cases at a European conference. Once made aware of Rett's earlier work, he
named the disorder "Rett syndrome". The disorder had also been
recognised by clinicians and researchers in several other countries. In 1983, a
group of researchers from France, Portugal and Sweden published a paper in
English, describing the clinical characteristics of 35 girls. This paper led to
the international recognition of Rett syndrome. The first International Rett
Syndrome Conference was held in Vienna in 1984. In 1986, Drs. Hagberg and
Witt-Engerstrom published a suggested staging system for describing the
impairment profile in the American Journal of Medical Genetics. In 1985, Dr.
Hugo Moser organized the first North American International Rett Syndrome
Conference in Baltimore, Maryland, U.S.A.
In 1986, two important papers were published: Coleman, Brubaker, Hunter
& Smith published "Rett Syndrome: a survey of North American
patients" in the Journal of Mental Deficiency Research, and Naidu, Murphy
and Moser published "Rett Syndrome: Natural History in 70 cases" in
the American Journal of Medical Genetics.
- Children with Rett syndrome appear to develop
normally for their first 6 to 18 months of life and then begin to regress
physically. In the first year, parents and doctors may overlook Rett syndrome
symptoms: infants may show less eye contact and have reduced interest in toys.
They also may display delays in motor skills, such as sitting or crawling. This
stage, called early onset, usually lasts for a few months, but can persist for
more than a year.
- Stage two, or the rapid destructive stage, usually
begins between ages 1 and 4, and may last for weeks or months, and persist even
into early teens. The main symptoms include rapid or gradual loss of functional
hand skills and language skills. Children begin displaying characteristic hand
motions: wringing, clapping or tapping motions, as well as repetitive
hand-to-mouth movements. They may also display breathing irregularities, such
as apnoea and hyperventilation, and can develop scoliosis as early as age
- Between ages 2 and 10, stage three begins, which can
last for years. Although dyspraxia and seizures are prominent, children grow
less irritable and show more interest in their surroundings (some refer to this
as the wake-up phase). In addition, their attention span and communication
skills may improve, but talking/speaking is not usually a skill that improves.
Many people affected with RS remain in this stage for most of their lives.
- In stage four, individuals usually display reduced
mobility, increased spasticity, and some lose their ability to walk. Postural
abnormalities, such as scoliosis, are also more prominent during this last
stage for some individuals.
Many professionals throughout the
world are involved in the care of people who have Rett syndrome, and many
more are engaged in or have published research to try to understand the cause
and progression of this disorder. In the United Kingdom, the Rett Syndrome
Association (RettUK) provides up to date information via their office and a web
site. In the USA, the International Association (IRSA) has an extensive website
with a bulletin board, and links to articles, research, and individual web pages.
Rett syndrome causes significant
disability, and has a profound effect on the people who have the disorder.
Their families struggle to come to terms with it. “The
diagnosis is devastating.” (Kathy Hunter, founder of IRSA). “We know about the physical limitations of RS, but
what do we know about the comprehension of girls with RS? Most medical
references cite ‘mental retardation.’ In our society, the words ‘mental
retardation’ conjure up a great deal of stigma and dread, even though the
definition of this phrase is ‘slow learner.’ The term is characterized in such
a negative light, and it is often used as a cruel taunt, or as an insult. ‘Developmental
delay’ gives the impression that the condition will ameliorate with age, which
is not necessarily true. Other terms such as ‘cognitive impairment’ or ‘intellectual
disability’ are softer on our hearts, but even these terms defy a true
definition of what the individual with RS understands. The truth is we simply
do not always know how much she comprehends……. She thinks and learns from her
experiences. She feels with emotions from sadness to joy. Most everyone
who knows or loves someone with RS describes bright eyes and a knowing look,
the on-again off-again feeling that they are ‘in there. It is not unusual for
parents to believe -- call it wishful thinking -- that their child understands.
But it is remarkable for teachers, doctors, therapists, friends and relatives
to agree. In RS, they all agree that there is more than meets the eye. She
understands more than we know. Just because she can’t show it, doesn’t mean she
doesn’t know it. Her fundamental physical handicaps interfere with her ability
to tell us what she knows. We do not really have a good way to measure what she
Now, with the Tobii C series, as stand-alone communication devices, and the PCEye that can be attached to a computer, we have a way to gather data on what the girl is looking at on the computer screen. This gives us a way to assess comprehension and cognition. The eye gaze control can act like the mouse, and allow the girl to demonstrate her choices, to initiate communication, and tell us what she is thinking about. These are exciting times, and the understanding of Rett Syndrome will be changed by what we can find out. This is the path I want to be on, to create the tools to allow us to make these discoveries, and to support families to be able to access this new technology.
Additional information can be