Rett syndrome
Rett syndrome is a genetic disorder of nervous system development that occurs almost exclusively in girls.
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Medicines commonly prescribed for Rett syndrome
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Dosage form: ORAL SOLUTION/SUSPENSION, 750 mgActive substance: levetiracetamManufacturer: Neuraxpharm Spain S.L.Prescription requiredDosage form: CHEWABLE TABLET, 100 mg lamotrigineActive substance: lamotrigineManufacturer: Glaxosmithkline S.A.Prescription requiredDosage form: TABLET, 250Active substance: levetiracetamManufacturer: Laboratorios Normon S.A.Prescription required
Rett syndrome is a genetic disorder of nervous system development that occurs almost exclusively in girls. For the first year or eighteen months the child develops like any other, and then development stops and some of what has already been gained is lost: words go, the ability to pick things up and hold them goes, and in their place come continuous movements of the hands.
After that, life is long. This is not a rapidly progressive disease: once the regression is over, things settle, and many women with Rett syndrome reach middle age and beyond. The question is not how to get through it but how to make that life a good one.
The first year looks ordinary
Pregnancy and birth are usually unremarkable, the baby is born healthy and the first months go by on schedule: she smiles, babbles, reaches for toys, sits up. That is exactly why the diagnosis almost never occurs to anyone at the time.
Looking back, parents often remember that something was there: the baby was floppy in the arms, fed weakly, sat late or sat oddly, took little interest in toys, was slow to start talking. Taken singly, all of that is far too vague to mean anything, and at the moment it happens it worries nobody.
Then comes what is called stagnation: no new skills are added, and the head circumference starts growing more slowly than before. This is usually the first objective sign, and it is the doctor rather than the parents who notices it — one more reason to measure a child's head at every check.
Regression: what goes and what appears
Regression most often begins between the ages of one and three and lasts from a few months to a couple of years. It can be gradual, or it can be abrupt, over a matter of weeks. What is lost:
- purposeful hand movements. She stops picking things up, holding a spoon, pointing — not because she does not want to, but because the hand no longer obeys the intention;
- speech. The words she already had disappear, and sometimes the babble with them;
- interest in people, eye contact, responsiveness. For a while this makes the picture resemble autism, and that is often the first diagnosis given;
- steadiness on her feet, if she had already started walking.
What appears instead are stereotyped hand movements, almost continuous during waking hours. The hands wash one another, wring, clap, tap, go to the mouth. It is the most recognisable feature of the syndrome. There are also spells of crying, screaming and distress for no evident reason, sleep breaks down, and the walk becomes unsteady and up on the toes.
It is worth knowing in advance that things improve after the regression. By the pre-school years interest in people usually returns, and returns visibly: the gaze, the attention, the response to being spoken to, the sense of humour. Parents often describe that stretch as the time when their daughter came back. In some girls walking improves as well, and a few begin to walk for the first time.
How it is diagnosed, and why it is girls
The diagnosis is first of all a clinical one: the doctor works from the history — normal early development, then regression, then a plateau — and from a set of features, of which the four main ones are loss of purposeful hand use, loss of speech, hand stereotypies and an abnormal gait.
It is confirmed by a blood test for changes in the MECP2 gene. That gene sits on the X chromosome and is needed for nerve cells to work properly, and in the great majority of girls with the classic picture the change is found. But a negative result does not on its own rule the diagnosis out: the clinical picture counts for more than the test.
Why it is almost only girls. They have two X chromosomes, one carrying the change and one working normally, and that is enough for development to get going. Boys have no second X chromosome, and the same change causes far more severe damage from birth. Boys with Rett syndrome in the usual sense of the term are a great rarity.
And one more thing worth saying plainly: Rett syndrome is almost never inherited. In the overwhelming majority of cases the change arises by chance as the reproductive cells are formed, and no fault of the parents is involved. The chance of it recurring in another child is very small, but it is still worth talking it over with a geneticist, who will assess your particular situation.
She understands more than she can show
This is the most important section on the page, because everything about how she will be spoken to for the rest of her life follows from it.
Rett syndrome strikes at carrying things out rather than at understanding: what fails is the ability to produce the movement she has in mind — to say the word, to point, to take the card. Any form of testing therefore returns a result below her real capacity, and for years the person is taken to understand less than she does.
The channel that stays open is her gaze. Girls with Rett syndrome look precisely, at length and with meaning: they choose an object with their eyes, answer yes and no, hold their attention on the person talking to them. Several practical rules follow from that:
- speak to her directly, not about her in the third person in front of her;
- speak as you would to any girl her age, not "to her developmental level";
- having asked a question, wait. An answer by gaze comes slowly, sometimes after five or ten seconds, and a hurried "all right then, you don't want to" cuts the conversation off just before the reply;
- offer a choice between two objects or two pictures held well apart, so that her gaze can be read;
- talk to a specialist in alternative communication about choice boards and eye-controlled devices. They work, and it is better to start early.
And this: distress and screaming are usually a message, not "behaviour". Before putting the episodes down to the syndrome, pain is looked for — constipation, heartburn, a tooth, an ear infection, a fracture, a displaced hip, an uncomfortable position in the chair. Very often the cause is found.
Breathing, seizures and the heart
In most girls the breathing becomes irregular while they are awake: spells of fast deep breathing alternate with pauses, and there is swallowing of air with a distended abdomen and straining. It looks alarming from the outside.
One detail matters here: these disturbances happen only in the waking state and settle during sleep. That is exactly what separates them from breathing pauses in sleep and spares a good deal of unnecessary searching. Oxygen and inhalers are usually not needed — this is not asthma and not bronchospasm. A calm response, distraction and a comfortable position help.
Seizures occur in most girls, mainly in childhood and adolescence, and usually quieten down in adult life. But there is a trap here: by no means everything that looks like a seizure is one. Blank spells, jerks, breathing episodes and bouts of laughing or crying are often mistaken for seizures, and anti-epileptic medicines are added year after year without benefit. A phone video of the episode and a video EEG are what sort this out. Film anything you do not understand — it is the most useful document you can bring to a doctor.
And separately, the heart. Rett syndrome can come with a long QT interval, a feature of the heart's conduction that raises the risk of a dangerous rhythm disturbance. An electrocardiogram is done at diagnosis and repeated regularly afterwards, and before any new medicine is prescribed — including certain antibiotics, anti-sickness drugs and psychiatric medicines — it is checked for whether it lengthens that interval. Tell this to any doctor who is about to start your daughter on something new.
Food, the gut and weight
Eating becomes hard: chewing and swallowing go out of order, food stays in the mouth and some of it goes the wrong way. Swallowing should be assessed if coughing or a gurgling voice appears during meals, if feeding takes far too long, or if chest infections keep coming back.
Constipation is almost always there, from low muscle tone, little movement and small volumes of food. It needs treating rather than tolerating: it is one of the commonest causes of pain, crying and refusing food. Heartburn and reflux of stomach contents are common too, signalled by distress after meals, arching of the body and waking at night.
Weight is a permanent theme: more energy goes out than anyone expects and less comes in. Higher-calorie food, smaller and more frequent meals and work with a dietitian all help. When feeding by mouth stops being safe or takes up half the day, feeding through a gastrostomy is discussed. Parents often experience this as a defeat, whereas in practice it is usually a relief for everyone: the girl stops being hungry and exhausted, and mealtimes stop being a fight.
The spine, movement and bones
Scoliosis develops in most girls and usually shows itself in the school years, advancing fastest during the growth spurt. That is why the back is looked at every appointment rather than once every few years. With a marked curve, a brace and surgery are discussed; the operation is a big one but it noticeably improves sitting, breathing and day-to-day care.
Plain daily work achieves a great deal: changing position through the day, a well-chosen chair and supports, time in a standing frame, stretches to hold contractures off. Walking, where it exists, is worth defending with everything you have — it helps the bones, the bowel and the mood — and ankle-foot orthoses make stepping easier.
Bones in Rett syndrome are more fragile than usual, and fractures happen with small forces, sometimes without anyone noticing. A sudden cry while she is being dressed, or a refusal to put weight on a leg, should raise the thought of a fracture. Talk to the doctor about vitamin D, calcium and monitoring of bone density. The hips are watched too: in girls who walk little the head of the femur can drift out of place, and it is better caught early.
What helps, and what lies ahead
There is as yet no medicine that removes the cause; in some countries the first drug aimed at the disorder itself has appeared, and its availability differs from place to place, so ask about it at the neurologist or geneticist looking after your daughter. Everything else is aimed at particular problems, and it works reasonably well.
The foundation is the steady work of a team: physiotherapist, occupational therapist, communication specialist, neurologist, orthopaedic surgeon, gastroenterologist, dietitian, dentist. Hydrotherapy, music sessions and therapeutic riding all help, not as miracles but as ways of moving and enjoying it. Hand splints are used briefly and for a stated reason — to free the other hand for something — not to "get rid of" the stereotypies.
Adult life arrives, and it is worth preparing for well in advance: follow-up continues, doctors change, and decisions are needed about guardianship, daytime occupation and help at home. Find the family association in your country: other parents will teach you more of the practical side than any handbook.
And finally this. Caring for a girl with Rett syndrome is hard work, physically and emotionally, and it does not end. Asking for help, taking a break and seeking psychological support for yourself and for older siblings is not weakness; it is what makes lasting the distance possible.
Online consultation
A remote appointment suits this subject particularly well: taking a child out for every conversation is heavy going, and there are a great many conversations here.
An online consultation works for going through video recordings of episodes and judging whether they look like seizures; assembling a follow-up plan of what to check and how often, including the electrocardiogram and the spine; sorting out constipation, reflux and weight; checking prescribed medicines for QT lengthening and for interactions; discussing where to begin with alternative communication; preparing questions for the neurologist, the orthopaedic surgeon or the geneticist; and talking about how you are, not only about how she is.
Have ready for the appointment: the genetic report if you have one; letters, the most recent electrocardiogram and spinal images; a full list of medicines with their doses; a few short videos of episodes you do not understand; a record of feeding, bowels and sleep over a couple of weeks; and the weight and height charts. And work out beforehand the three questions that trouble you most — we will start with those.
This material is for information only and does not replace medical advice.
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