Rett Syndrome: Symptoms, Causes, and Treatment

Rett syndrome is a typical disorder in girls in which there's a slowdown and loss of acquired functions. Learn more today.

Written and verified by la psicóloga Laura Ruiz Mitjana.

Last update: 05 April, 2023

Rett syndrome, according to the National Institutes of Health (NIH), is a neurodevelopmental disorder in children that is characterized by a normal initial course followed by the loss of skills, such as the voluntary use of the hands or social skills. These losses appear between 5 and 48 months of life.

It’s a rare disease that happens more in girls. According to the World Health Organization (WHO), there are more than 5,000 rare diseases worldwide, not counting the ultra-rare diseases, which affect less than 5 people per 100,000 inhabitants.

As for Rett syndrome, in addition to what has been mentioned, there’s a moderate or severe intellectual disability, and the appearance of stereotyped movements in the hands is characteristic, as well as slowed growth of the brain and head. Do you want to know more about this disorder? Keep reading.

What is Rett syndrome?

Rett syndrome was identified by Dr. Andreas Rett, an Austrian physician who first described it in an article published in 1966. However, it wasn’t cataloged until after the publication of a second article, this time in 1983.

Rett syndrome is a disorder that affects the nervous system and entails a series of difficulties in the development of children, highlighting moderate or severe intellectual disability. It affects language skills and the use of the hands. Its comorbid diagnosis with autism or cerebral palsy is frequent.

It’s a syndrome present in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR), but it disappears as such in the new edition, the DSM-5. In the first case, Rett syndrome constitutes a profound developmental disorder together with the following:

• Pervasive developmental disorder (PDD)
• Childhood psychotic disorder
• Other profound developmental disorders

However, in the DSM-5, Rett syndrome disappears as such and it’s assumed that it may meet the criteria for autism spectrum disorder (ASD). That is, if we come across a case, we would already include it as an ASD. In any case, in this article, we’ll base ourselves on the description that the DSM-IV-TR makes of the syndrome.

The symptoms of Rett syndrome

In order to diagnose Rett syndrome, two criteria must be met. These refer to its symptoms:

• Criterion A: Three conditions are necessary:
  • Normal pre and perinatal development.
  • Normal psychomotor development up to 5 months.
  • Normal head circumference at birth.
• Criterion B: Between 5 and 48 months, the following must be met:
  • Deceleration of cranial growth.
  • Loss of acquired manual skills (between 5 and 30 months of life).
  • Loss of social involvement.
  • Gait ataxia.
  • Severe alteration of language and psychomotor area.

It’s characterized by the loss of previously acquired functions. That’s why it causes so much confusion and despair in the parents of the girls who suffer from it, who don’t understand what’s happening or why their daughter regresses.

Particular manual skills

As a noteworthy fact, the development of very characteristic stereotyped manual movements (similar to the gesture of writing) frequently appears. They may also start wringing their hands with their arms bent in front of their chin or chest.

Other characteristic symptoms

There are another series of symptoms associated with Rett syndrome not mentioned in the DSM-IV-TR criteria:

• Inadequate chewing or drooling
• Penetrating social smile
• Severe or profound intellectual disability
• Changes in the electroencephalogram
• Epileptic seizures with convulsions

The causes of Rett Syndrome

In most cases, Rett syndrome is due to an alteration in the gene called MECP2, which is located on the X chromosome. As we’ve said, it’s a disorder that appears in girls, those who have 2 X chromosomes.

What happens in the case of boys? As they have an XY chromosome endowment (they only have one X chromosome), if the alteration of the MECP2 gene appears in the only X chromosome they have, then they don’t have another healthy one. As a result, what usually occurs is spontaneous abortion or premature death.

Despite all that has been said, the exact cause of Rett syndrome is still not completely known. In this regard, it’s something that’s under study.

The treatment of Rett syndrome

Rett syndrome has no cure. However, the complications derived from it can be addressed, as well as improving the quality of life of the girls who suffer from it. Appropriate treatment should include the following:

• Methods to treat symptoms such as gastroesophageal reflux and constipation
• Physiotherapy to prevent problems in the hands and other parts of the body
• Weight-bearing exercises
• Aids in feeding and diaper changing
• Psychoeducational techniques to stimulate learning
• Sensory and cognitive stimulation

Specific areas

Regarding food, we can choose to include supplements to help slow growth. Sometimes when the child inhales or aspirates food, a tube is needed. In order to increase weight and height, you can resort to a diet rich in calories and healthy fats.

Regarding the treatment of seizures or epileptic crises, there’s the possibility of resorting to specific medications. To treat possible constipation that arises in Rett syndrome, drugs can also be chosen, as in the case of muscle rigidity.

Mother cells

Stem cells are being investigated in isolation or in conjunction with gene therapy, which is a hopeful project. However, as it’s a rare disease, investment in research is low.

A family problem

As you can see, Rett syndrome causes significant physical and mental disability in girls. Even if an implicated gene has been located, a lot of research is still needed in this regard to be able to find the exact causes and to intervene and further improve quality of life.

In the case of families that have a child with this or another syndrome or disorder detected, it may be a good option to look for associations with the same problem (in this case, the International Rett Syndrome Foundation), in order to create networks and feel supported.

Having a child with a disability is a very stressful life event that will require professional help to face this new situation with integrity. The goal is to develop adaptive coping strategies and be able to express all mixed feelings.

Let’s not forget that a situation like this involves grieving for the child we were expecting. A long process of lights and shadows begins that will allow us, little by little, to accept the situation and value the good things, our child’s potential, and their small day-to-day achievements.