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Rett Syndrome

Rett Syndrome Poster Child
Naomi Catford-Robinson

Rett Syndrome Poster Child
Rebecca Morris

Introduction

Rett syndrome (RS) is a genetic disorder that is characterized by an initial period of normal development, followed by a loss of communication skills and purposeful hand movements. It is a disorder that is seen almost exclusively in females and occurs in a variety of racial and ethnic groups worldwide. RS has just recently been traced to a defective gene on the X chromosome called MeCP2. It is estimated that the incidence of RS is between 1 in every 10,000 to 15,000 live female births.

In 1965, Austrian pediatrician, Andreas Rett, observed two young girls sitting on their mothers’ laps in his waiting room. They were profoundly disabled and were wringing their hands together incessantly. After searching his files, he found six other girls with the same clinical features and wrote the first description of, what is now known as, Rett syndrome. RS later received worldwide recognition following a paper written by Bengt Hagberg and his colleagues in 1983. 

 

Features and Characteristics

Rett syndrome is often mistaken for autism, cerebral palsy, and mental retardation. However, no other condition has a period of rapid deterioration followed by stabilization and sometimes even improvements in autistic features, eye contact, and stereotypical hand movements. Since there is no form of laboratory testing for RS, diagnostic criteria and exclusionary criteria have been formed for the recognition of the syndrome. The following characteristics must be found in order to receive a diagnosis of RS:

Other features that may be seen, but are not required for a diagnosis of RS, include:

Exclusionary criteria include:

Diagnosis

The diagnostic criteria described above is still used to give a diagnosis of Rett syndrome, however, DNA sequencing is now available to detect the MeCP2 mutation. The MeCP2 mutation alone does not indicate that a child has Rett syndrome, as the mutation has been found in those without the classic Rett symptoms as well. To date, the mutation has been indentified in 50% of the RS cases. Research continues to search the remainder of the gene in children with RS to find all the mutations.

Development

Children with Rett syndrome typically develop normally until approximately 6 months to 1 ½ years of age. At that point, which is identified as stage one, the symptoms of RS are still somewhat vague, however, the infant shows less eye contact, less interest in toys, is not cuddly, and is very calm. Gross motor skills may be delayed and hand wringing and deceleration of head growth may be present.

In the second stage, age 1 to 4 years, certain hand skills and language are lost. The loss can be so acute, that some parents can actually identify the date that their child was no longer "normal." The hand movements mentioned earlier begin to emerge as well as other symptoms such as breathing irregularities, sleep irregularity, loss of social interaction, tremulousness, and slowing of head growth.

In the third stage, age 2 to 10 years, apraxia, motor problems, and seizures are more prominent. However, irritability, attention span, and communication skills improve.

In the fourth stage, after age 10 years, there is reduced mobility. Some girls stop walking, and scoliosis is a prominent feature. There is, however, no decline in cognition, communication, or hand skills, and repetitive hand movements may decrease.

Scoliosis

Scoliosis occurs in many girls with RS and may progress rapidly during ages 8-14 years. Some girls will need bracing and/or surgery. The likelihood of the scoliosis worsening seems to occur in those girls who do not walk and those who had early low muscle tone.

Impaired Expressive Language

Most girls with RS have the desire to communicate. Some girls have been able to use augmentive communication techniques, while other may use picture, letter, or word boards, eye-gaze responses, and switch activated voice output devices. The child with RS should always be spoken to as an intelligent individual, despite the fact that they may seem unresponsive.

Hand Movements

As the typical RS hand movements begin to develop, the hand-mouth behavior is often seen first. Movements are most often midline hand wringing or hand washing and only occur when the child is awake. Hands are also sometimes seen clasped behind the back or held at the sides in a specific pose with random touching, grasping, and releasing. Hand tapping and hand clapping are other movements also associated with RS.

Seizures

A large number of girls with RS are reported to have seizures, however, the number is overestimated because many of the common RS movements are mistaken for seizures. Those who do have seizures (proven by EEG monitoring), can be effectively treated with anti-convulsion medication.

Growth Retardation

Most girls with RS are small for their age. In fact, studies show that many girls meet the criteria for being moderately to severely malnourished. This may be due to swallowing difficulties, inadequate caloric intake, energy expenditure imbalance, or inadequate utilization of nutrients. Supplemental feedings (oral feedings with high calorie foods, NG-tube feedings, or G-tube feedings) have been effective in bringing height and weight gains, which may then result in more alertness and interaction.

 

Treatment

There is no cure for Rett syndrome, but a vigorous therapeutic approach, providing therapies such as physical therapy, occupational therapy, hydrotherapy, and music therapy, are recommended. In the physical therapy program, the emphasis should be on maintaining ambulation and balance. Occupational therapy should focus on promoting hand use, including the use of hand splints to reduce the involuntary hand movements associated with RS. Speech therapy may be useful in promoting communication through the use of communication devices or picture boards. In addition to the three common therapies, therapeutic horseback riding and hydrotherapy have been useful in promoting balance and protective responses, and music therapy has been used as an incentive for the child to perform.

Girls with Rett syndrome can be seen in all types of educational settings. Some are involved in special education classes, while others are fully included in regular schools. The educational goal should be to provide the most stimulating program in the least restrictive environment.

Early exposure to age-appropriate toys and books is very important, even if the child is not showing any type of response. Always allow enough time for her to respond to the stimulation. A response may not happen for several minutes and may be in an unconventional manner. Apraxia (the inability to program the body to perform motor movements), a common aspect of RS, can make it difficult for her to respond to directions; the more she has to think about, the more difficult it will become. However, providing environments and situations that are strongly motivating will make it easier for her to show what she understands, resulting in greater success and satisfaction.

 

What to Expect

It was once believed that Rett syndrome was a degenerative disorder, however, most experts now agree that it is a developmental disorder. MRI’s, PET scans, and neuropathological studies suggest no degeneration of the central nervous system. Therefore, the majority of women with RS will reach adulthood, surviving at least until their 40's.

It is difficult to measure cognition in an individual with RS due to apraxia and lack of communication skills. She does remain dependent on others to assist with daily living activities such as eating, dressing, and bathing. Some woman are toilet-trained, however, they still need physical assistance with toileting. Many times, when the individual with RS reaches age 22 years, therapies may be discontinued and she may lose ambulatory and other motor skills. Since this may lead to a decline in health, quality-of-life provisions can be made to continue with physical, occupational, and speech therapy.

Puberty begins at the expected age for most girls, although early puberty has been reported. Girls menstruate and can become pregnant. As the girl reaches adulthood, health care providers should treat her as an adult rather than a child. Teenagers with RS can show strong likes and dislikes, and appear to understand in general what is being said around and about them.

 

Personal Stories

This past Christmas morning, Naomi awoke well before dawn. She’s nearly five and a half, but still sleeps in a crib in our bedroom, just a few feet away from my wife, Lorna. So when Naomi is awake, we know about it! It was just after her second birthday that Naomi was diagnosed with Rett syndrome (RS), by Dr. Sakkubai Naidu at the Kennedy Krieger Institute at Johns Hopkins Hospital in Baltimore, Maryland. Like most girls with RS, she cannot talk, but Naomi is certainly not silent. She cries, laughs, squawks, hums, coughs, whines, moans, murmurs, giggles, squeals, grinds her teeth, chokes and throws up, kicks her legs vigorously, and smacks her lips. Sometimes we are able to ascribe intent or meaning to these various sounds, but more often they remain a mystery to us. I’m sure there are times when Naomi thinks she must have some of the most dense and unresponsive parents in creation, but she rarely displays signs of frustration with us. When she awakens during the night, Naomi will usually do one of three things: cry, which often indicates she is uncomfortable and wants to have her position shifted; laugh ­ and we’re talking great, LOUD hysterical laughter, which can come bubbling up from an apparently sound sleep without provocation; or cough and choke, when her secretions are more than she can manage, and she’s getting ready to throw up. But she wasn’t doing any of her usual repertoire on Christmas morning. Instead, just as she had the previous two or three mornings, she was awake and active well before the time she (and her groggy parents) usually get going around 7 a.m. We tried bringing her into our bed for a bit of (we hoped) quiet cuddle time; maybe that would get her calmed down and back to sleep. It often works on weekends, but not today. No, this was one morning that Naomi just would not calm down. She kicked her legs, thrashed her arms, whined softly at first, and then with greater intensity, and generally refused to be placated. Something was very wrong, that much was clear. But what? Was she in pain? Where did she hurt? Even a dose of Advil didn’t ease her upset ­ or ours.

The multi-hued lights of the Christmas tree glowed into the short hallway that links our bedroom with Naomi’s older sister. The pile of colorfully wrapped presents beneath the tree had been growing daily for the past week, and at bedtime the previous evening, two large red stockings full of intriguing lumps, had been brought out and hung near the tree. Yes, the stage was properly set for holiday revelry, but it threatened to be a long, difficult day if Naomi was going to be so unhappy and require constant extra attention.

Big sister Amber, 8, was as excited about the holiday as any third-grader, but even an hour of sustained fussing from Naomi had not yet roused her. In fact, she slept on until nearly 8, more than three hours after her sister first started "talking" to us that morning. She’s had plenty of practice sleeping through her little sister’s nighttime escapades, of course; Naomi frequently rouses noisily during the night, sometimes for several hours. In due course, Amber roused and we all went through to the living room to see what those red stockings held. Naomi’s demeanor changed almost immediately. Shredding wrapping paper occupied her full attention; the uneasy fussing and general misery of the past few hours was replaced with happy little squeals. And finally, the message got through to us: it wasn’t that she was in physical pain. This was a girl who was too excited about Christmas morning to sleep any more, one who was intent on the payoff from all the pre-Christmas build-up, and had been doing her best to get her dopey parents to get with the program.

For the rest of the day, Naomi was a delight, relishing the presents, the extended family that gathered, and, especially, the twilight after-dinner walk around our rural neighborhood. But the best gift of the day, we agreed, was Naomi’s clear comprehension of the holiday rituals and her determination to participate in them.

This confirmation of Naomi’s understanding of her world, and the difficulty she faces in communicating what she knows, are two of the most challenging hallmarks of Rett syndrome. The progression of the disease not only robs the girls of speech, but its characteristic breakdown in control of the hands and fingers also makes the use of sign language impossible, isolating their young minds in dysfunctional bodies. Overwhelming anecdotal evidence, such as Naomi’s Christmas morning, has refuted the one-time supposition that girls with Rett syndrome are mentally retarded (although not all the literature on RS has caught up with this recent change in thinking), but there is still no quantifiable way of measuring their intelligence in the absence of speech or purposeful hand use.

Naomi does not fit the classic pattern associated with RS. She was very hypotonic and floppy at birth, and never enjoyed the quasi-normal infancy most RS girls have. Because of her poor muscle tone and lack of coordination, she has never been able to swallow comfortably. She nursed very poorly, and had to have a gastrostomy tube inserted for feeding when she was just a few months old. With the tube, she has grown large for her age (much like her sister), and her physical strength is gradually increasing, although she still cannot stand, or sit unassisted. Diagnostic descriptions aside, Naomi is a lively, bright-eyed girl who loves swimming, listening to and making music, horseback riding, having books read to her, and being with other kids. Her sleep patterns are not as disruptive as when she was younger (though she still awakens at least once during most nights) and she is showing interest in distinguishing numbers, letters, colors, etc. She is now attending a special ed kindergarten five mornings each week (with her own one-on-one aide), and enjoys getting the school bus early on those mornings.

So where does all this leave her parents? Of course we love Naomi, and delight in her progress, at whatever pace it occurs. We are concerned about her education, her future, her baseline health and finding friends for her in our local community. We have become intimately acquainted with a caring circle of other families that include children with disabilities, making enduring interpersonal connections that are deeply rewarding. But underneath it all, we carry the eternal ache of lost potential and opportunities irretrievably lost. But that pain is tempered, however slightly, by a lingering sliver of hope that on some Christmas morning yet to come, Naomi will be able to participate with new abilities that now seem impossibly distant. THAT would truly be a day to celebrate! - Bruce Robinson

I would like to tell you about my daughter. Her name is Rebecca and she is 6 years old and has Rett syndrome.

Becky had progressed normally until around 18 months of age; this was when I noticed her speaking had slowed down and she was not playing with her friends like she used to. I then took her along to see a specialist who diagnosed her with autism after multiple tests - she was 2 ½ years of age at the time. At that stage, she had all the autistic characteristics: fear of change, fixated on certain objects, a fascination with books and magazines, intolerance to touch and lack of sleep, crying fits, and loss of eye contact. Things stayed like this for about another year until she lost the use of her hands and started wringing them together. Then, we were told to go and get another opinion, as they believed it wasn’t autism after all. Well, we went along and were finally told it was Rett syndrome.

In the beginning, we knew nothing about this syndrome except for what the doctor had told us (and that was bleak). We were told Becky would be severely retarded, loose her ability to walk, have seizures, get scoliosis and die at a young age. We went home devastated.

Today, we know better. Becky walks and runs. Although she doesn't speak, she uses one step communicators to tell us she wants a drink or something to eat or to go to the toilet. She is seizure-free at this time and there are no signs of scoliosis. She is a very happy little girl with a very active social life. She goes to hydrotherapy twice a week, horseback-riding, and loves ten pin bowling. She loves to bounce on the trampoline, run about the garden, and most of all, she loves to swim in the pool. She loves music and her TV, which most of the girls do. She has much better eye contact these days and her happiness and love shines through her eyes.

She attends a special school five days a week and absolutely loves it! She waits at the door every morning for the bus to come along and then runs out to it. She usually goes to school singing along to the music (vocalizing).

Although Rett syndrome is a life long condition, it is not as bad as we first thought. We have a very happy and special little girl who has managed to teach us patience and tolerance, and has brought many happy days to our lives. - Wendy Morris

My granddaughter has Rett syndrome. She was diagnosed in October, 1994 when she was almost 2 years old. She received all the usual tests at that time: CT scan, spinal tap, blood tests, and an EEG. At that time, they couldn't find out what was wrong. It was a very difficult time for the entire family. Her symptoms were: not walking, no talking, and very low motor skills.

In July, 1995 my daughter took her to a geneticist, and he was the one that put a name to it: Rett syndrome. She is now 6 years old. It has been very hard to cope with, as you can well imagine. Apparently, there are different grades in the syndrome. Some girls can walk and others can't. Rachel (that is her name) walks a little bit, but most of the time she sits on her knees! She cannot talk, and she also has scoliosis. She is very thin - girls with RS have trouble eating and swallowing; they don't seem to assimilate their food properly. But she is a very sweet girl and very pretty! When she was younger, she had stomach-aches often and bad cramps, but that seems a bit better now. We all love her very much and so does everyone else.

She goes to kindergarten for a couple of hours every afternoon. She seems to like it, although it is difficult to tell as she can't tell you. - Connie de Jager

My name is Trisha Carter and I am Caitlin's mom. Caitlin is a beautiful 7 ½ year old blonde-haired, blue-eyed girl who was diagnosed with Rett syndrome about two years ago.

Caitlin is able to walk, however, she does have difficulties with certain obstacles such as stairs. She is non-verbal and does not sign. She is able to use icons infrequently. Caitlin is remarkable because she always finds a way to let her father or me know exactly what she needs.

Caitlin is her happiest when watching Barney. She can watch video after video and never get tired of that purple dinosaur! She also enjoys all of the Disney videos. She can attentively sit through an entire video. Caitlin has no interest in toys or other stimuli. She obviously is much happier passively watching a video.

Being a mother of such a special child has been a long, tiring, and very frustrating at times, road. I began my emotional journey full of denial, rushing to specialist after specialist. Then my denial turned to sorrow. From sorrow, came anger. And now, even though I say this with a small little lump in my throat, I can honestly say I accept Caitlin for exactly what she is. Perfect. - Trisha Carter

My name is Jack Meloche and I have a daughter that is named Corine. She has Rett syndrome and will be 6 years old this June. She is a great girl and offers us a whole lot of love. She cannot walk or talk and isn't potty trained, but we usually manage to know what she wants or needs.

Her left hand is pretty much controlled by her, which means that she can use it to eat (with her hand, not utensils). She also uses that hand to bite on. We have made her a type of glove that lessons her bite because she does not feel herself while doing that. She has even bitten herself to blood! Her right hand, she doesn't really have much control over, but uses it to touch.

Her favorite pastime is to watch videos. She could spend hours doing that . We often take those moments to do exercises with her. She has one hour of physiotherapy as well as one hour of ergotherapy a week. Added to that, is some pool time every week. - Jack Meloche

 

Resources

If you are interested in meeting other parents and individuals who are involved with raising a child with Rett syndrome, the following listserv is available through the International Rett Syndrome Association:

RettNet - Send an e-mail to majordom@radix.com, leave the subject field blank, and in the body of the e-mail type the words "subscribe rettnet (your e-mail address)" (without the quotes). You will then receive a confirmation.

For more information on Rett syndrome itself, visit these helpful sites:

 

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