Rett syndrome is a rare disorder that affects approximately 1 in 15,000 individuals. It occurs in children who have normal development in the first months of life, but who suddenly begin to lose previously acquired skills. It also entails an intellectual disability that can be moderate to severe.
In this article we tell you what this syndrome consists of in more detail, what its symptoms are and how it is classified in current mental health diagnostic manuals. We also talked about its possible cause and the most appropriate treatment for it currently, that is, multidisciplinary treatment.
Rett syndrome: what is it?
Rett syndrome is a severe neurological condition of genetic origin, according to Hernández-Flórez et al. (2018). It is considered a rare disease, which mainly affects girls. Rare diseases are those that affect 1 in 2,000 people (in Europe), or less than 200,000 (in the United States).
According to data from the World Health Organization (WHO), there are more than 5,000 rare diseases worldwide, not counting ultra-rare diseases (those that affect fewer than 5 people per 100,000 inhabitants).
A childhood neurodevelopmental disorder
Rett Syndrome consists of a childhood neurological development disorder, according to the (National Institute of Health), which is characterized by an initial normal evolution in development, which is followed by the loss of some skills (which occur between 5 and 48 months of life). These skills include voluntary use of hands or appropriate use of social skills. In addition, an intellectual disability occurs, which can be moderate or severe. Other symptoms of the syndrome are a stereotyped movement of the hands and delayed growth of the brain and head.
If you value articles like this, consider supporting us by becoming a Pro subscriber. Subscribers enjoy access to members-only articles, materials, and webinars.
Origin of the syndrome
Dr. Andreas Rett (hence his name), who was an Austrian doctor, spoke about this syndrome for the first time. In 1966, Rett published an article in which he described the disorder. However, it was not until the publication of a second article, in 1983, when he classified (or recognized) the syndrome as such.
DSM-IV-TR and DSM-5
Rett syndrome is described in the DSM-IV-TR (Diagnostic and Statistical Manual of Mental Disorders), but it disappears in the DSM-5 with this nomenclature.
Specifically, in the DSM-IV-TR, it is included as a profound developmental disorder, along with others:
- Pervasive developmental disorder (PDD).
- Childhood psychotic disorder.
- Other profound developmental disorders.
On the other hand, as we said, it disappears as such in the DSM-5, and is categorized as a possible autism spectrum disorder (ASD). Thus, Rett syndrome in the DSM-5 becomes a possible ASD.
Symptoms
We can know the symptoms proposed by the DSM-IV-TR for Rett syndrome through its diagnostic criteria:
Criterion A
Criterion A says that three conditions must be met in order to be diagnosed with Rett syndrome, these being:
- The existence of normal pre- and perinatal development.
- Normal psychomotor development up to 5 months of age.
- A normal head circumference at birth.
Criterion B
Criterion B establishes that, between 5 and 48 months of life, the following must be met:
- Deceleration of cranial growth.
- Between 5 and 30 months of life, loss of acquired manual skills.
- Loss of social involvement.
- Gait ataxia.
- Serious alteration of language and psychomotor area.
As we see through the symptoms described, a loss of functions that have already been acquired occurs in the boy or girl. This fact causes a lot of discomfort, uncertainty and confusion in parents.
Other characteristic symptoms
Other typical symptoms of Rett syndrome, which are not specifically mentioned in the DSM-5, are: inadequate chewing, social “through” smiling, moderate, severe or profound intellectual disability, walking difficulties, brain disorders that appear electroencephalogram and the appearance of epileptic seizures with convulsions.
On the other hand, it is important to highlight the appearance of stereotyped manual movements, already mentioned, because they are very characteristic. These translate into a gesture similar to the writing gesture, which is performed continuously. Another type of movement that may appear in this sense is the following: washing your hands with your arms bent in front of your chin or in front of your chest.
Causes
What are the causes of Rett syndrome? The reality is that the cause, at present, is unknown (it continues to be studied).
However, it is known that, generally, the syndrome is caused by an alteration in a gene, specifically the MECP2 gene, located on the X chromosome. This is why it is a much more common disorder in girls than in boys. since they are the ones that have two X chromosomes.
On the other hand, children, having their XY chromosomes, what happens is that if the alteration occurs in the gene, it appears in the X (and children do not have another healthy X). This often causes spontaneous abortion or premature death, and therefore there are fewer cases of the disorder in children.
Treatment
Rett syndrome is a disorder that currently has no cure. That is why the treatment focuses on addressing its symptoms and the possible derived complications. A multidisciplinary treatment is ideal in these cases, that is, one that includes psychological, psychoeducational intervention for parents, speech therapy, medical and physiotherapy. (the latter focused on working on muscle rigidity and other aspects).
Different interventions
Through psychological intervention, cognitive and sensory stimulation programs are usually used in order to maintain and enhance the preserved skills. At a psychoeducational level, guidelines are offered for parents to improve their knowledge of the disorder and what strategies can benefit their child.
At a medical level, methods are usually used to treat certain symptoms, such as constipation or gastroesophageal reflux. Physiotherapy is usually very beneficial in preventing problems in the hands and other parts of the body (a variant of it is equine therapy, which improves muscle tone, balance and other aspects of the child through horses).
On the other hand, help is provided for feeding and changing diapers, and for any area that may be affected by the disorder.
An especially important area to work on in these children is the area of feeding. It is usually chosen to include supplements in the diet, with the aim of enhancing growth (which is slow). Sometimes complementary methods are needed, such as the use of a probe. Diets rich in calories and healthy fats are also used, which allow the child’s weight and height to be enhanced.
To treat seizures and epileptic seizures in general, typical of the syndrome, drugs aimed at their prevention and improvement are frequently used.
Bibliographic references:
- American Psychiatric Association -APA- (2014). DSM-5. Diagnostic and Statistical Manual of Mental Disorders. Madrid. Panamericana.
- American Psychiatric Association -APA- (2000). DSM-IV-TR. Diagnostic and statistical manual of mental disorders (4th Edition Reviewed). Washington, DC: Author.
- Caballo, V. and Simón, MA (2002). Manual of Clinical Child and Adolescent Psychopathology. General disorders. Pyramid: Madrid.
- Hernández-Flórez, CE and Contreras-García, GA (2018). Rett syndrome: review of the literature with first cases reported in Colombia with clinical and molecular characterization. Acta Neurol Colomb., 34(1): 2-15.
- Rivero, Omar Hernández, Addys Pérez Fernández, Odalys Hernández Rivero.(2019). Rett syndrome. Case report. Center Medical Act 13(1): 84-88.