Developing local support to help people with Rett syndrome communicate!
Children with Rett syndrome share common symptoms but it is a wide spectrum with some being less severely affected than others; each child is an individual and may not display every symptom but these are the most typical ones seen at various stages of the disorder. Symptoms can change over time and as children grow into adulthood different difficulties may present.
Common Symptoms, Stage 1 Early Signs and Slow Development:
Babies with Rett syndrome appear to develop normally for the first year or eighteen months but may be quite floppy (hypotonia), have some difficulty feeding, show poor coordination of limbs and trunk and have unusual hand movements (wringing, clasping and mouthing).
A period of stagnation in development from about the end of the first year may last until regression occurs.
Stage Two, Regression may occur as early as nine months and as late as 30 months. In atypical cases this can occur later still. Skills in speech and purposeful hand movement are greatly reduced as repetitive and uncontrollable hand movements take over. Children may start to seem to withdraw socially which can lead to a mis-diagnosis of autism. There are often periods of distress, irritability and sometimes screaming for no obvious reason. If the child has started walking, their gait may become unsteady and posture stiff. Parents often remark on their children having a higher pain threshold than they have experienced with other children, particularly to external pain if accidentally hurt in some way. Head circumference which was normal at birth may now start slowing in growth.
Other problems that can develop during this stage are related to eating, chewing or swallowing as abnormal breathing patterns appear; breath holding, air swallowing, and hyperventilating. Bloating and constipation may be problematic often exacerbated by difficulties with fluid intake. Some children may also start to have epileptic seizures during this phase. There are many types of seizures and different ways that they can present from absences which may be momentary to grand mal or generalised tonic clonic seizures which can affect the whole body. An electroenchephalogram (EEG) is frequently used to determine the type of seizure, along with observations from parents and care givers and medication may be prescribed to help control the seizures.
Stage 3 Plateau can occur from as young as two years and up to 10 years of age; this stage can last for many years. There can be some improvement in some symptoms such as irritability and crying as well as showing more interest in their surroundings. However, weight gain can be difficult to achieve and breathing difficulties may worsen.
Stage 4 Deterioration in movement can last for years or even decades. The main symptoms at this stage are:
- the spine bending to the left or right side (scoliosis), although this often starts earlier and frequently worsens during puberty with each growth spurt
- spasticity (abnormal stiffness, especially in the legs)
- loss of the ability to walk
The repetitive hand movements may decrease by this stage and eye gaze usually improves. The seizures also usually become less of a problem in adolescence and early adult life, although they will normally be a lifelong problem that requires careful management and regular reviews with a neurologist.
Other features which are often seen include:
- EEG abnormalities
- Problems with sleeping marked by difficulty in falling asleep, waking for long periods (often with shrieking, laughter).
- Epilepsy – over 50% of people with Rett syndrome have some form of epileptic seizure at some time
- With age, muscles become increasingly rigid; joint deformities and muscle wasting may occur
- Development of scoliosis (curvature of the spine)
- Growth retardation
- Teeth grinding
Careful management of the symptoms with a care plan that involves physiotherapy, occupational therapy, speech and language therapy, hydrotherapy and music therapy can help the person with Rett syndrome live a full and happy life. Many people with Rett syndrome do live into late middle age, and in less severely affected people, into old age, but sadly some do die quite young. Complications caused by the disorder including pneumonia, epilepsy and heart rhythm abnormalities are the most common causes of premature death in people with Rett syndrome.
For more information about managing the symptoms of Rett syndrome please call our Support Helpline on 01582 798911 or have a look at our resources.