Ret Syndrome: Symptoms, Treatments and Features

The Ret Syndrome (SR) is a pervasive developmental disorder that affects various brain areas, including motor and language, and that appears more in the female gender.

With respect to the cultural aspect, the realized racial and ethnic studies assure that it is distributed all over the world.

Ret syndrome

This disease owes its name to the pediatrician Ret, who described it for the first time in 1966, based on the clinical description of 30 cases he observed of girls who had developed mental regression at an early age.

However, it is not until 1983 that Hag berg describes the clinical picture based on a multicenter study of 35 girls.

Diagnosis of Ret Disorder

Ret syndrome appears in the diagnostic classifications as a disorder that occurs in childhood and adolescence.

In the International Classification of Diseases (ICD), Ret syndrome appears in the chapter on psychological developmental disorder.

For its part, the Diagnostic Manual of Mental Illness (DSM), in its fourth version, classifies it as a disorder usually diagnosed for the first time in childhood and adolescence, within the category of generalized developmental disorders. In this case, the manual calls it Rhett’s disorder.

The most current version of DSM-5 modifies the classification of DSM-5 because it considers that the boundaries between disorders belonging to the category of Generalized Developmental Disorders are very weak, which created the category of autism spectrum disorder. In order to diagnose Ret syndrome it adds a specification to that general category “associated with a medical or genetic condition or a known environmental factor”.

Criterion A. To discuss a Ret disorder, the following characteristics should be met.

  • “Normal” prenatal and prenatal development.
  • Apparently normal psych0m0tor development during the first 5 months after birth.
  • Normal cranial circumference at birth.

Criterion B. Appearance of the following characteristics after a normal development period.

  • Deceleration of cranial growth between 5 and 48 months of age.
  • Loss of intentional manual skills previously acquired between 5 and 30 months of age. Consequently, the development of stereotyped manual movements such as writing or washing hands occurs.
  • Social implication deficient in the onset of the disorder, although often afterwards it develops normally.
  • Poor coordination of gait or trunk movements.
  • Development of expressive and receptive language, severely affected and with severe psych0m0tor retardation.

Stages of Ret Disorder

The main characteristic that underlies these people is that from birth, during the pre-natal and prenatal periods, development is apparently normal.

As for the deficits presented by these subjects, we can refer to them based on four stages:

Stage 1 or stagnation (6-18 months)

It shows a slowing of cephalic growth, which leads to microcephaly with implications for language and visual contact. There is a decrease in weight and height, as well as lower growth of the hands and feet. Already at this stage there are motor manifestations like peculiar hand movements, rubbing.

Stage 2 or of Destructive Regression (beginning at 18 months)

There is a total loss of all psych0m0tor skills that the girl had previously developed. There is also mental retardation, autistic manifestations, irregular breathing (hyperventilation and apnea of ​​onset between 3 and 7 years), stereotyped hand movements and bruise. The latter presents special characteristics such as noises presented in the back of the mouth, whose sound is hollow.

In addition, you may experience laughter during the night and crying crisis during the day.

Convulsive seizures also occur, occurring in 80% of cases, starting around 4 years of age, and having a peak of frequency at 7-12 years, as well as a post-reduction tendency. They occur most in cases of Ret Syndrome with early onset and deterioration of the most severe psych0m0tor development.

Affections in sleep also occur; this is often interrupted by frequent nocturnal awakenings. In addition REM sleep or sleep paradoxical movements are reduced.

Stage 3 or pseudo-seasonal (beginning at 3 years)

This stage can be considered as a period of relative stabilization where there are certain aspects that are recovered, among them the capacity for social interaction. The most frequent manifestations in this stage are the motor ones.

Stage 4 o late motor impairment (early to late childhood or much later)

They emphasize the presence of scoliosis marked, initiated around the 8-10 years and of progressive character. As well as impairment of gait, to the point of needing the use of wheelchairs.

Other characteristic aspects are the presence of gastrointestinal alterations, caused by the difficulty of swallowing and mastication that they present. Heart problems are also common.

About us

According to research studies carried out to date, it is estimated that this disorder affects approximately 1 in 10,000 or 15,000 girls born.

After Down syndrome, Ret syndrome is the second most common cause of mental retardation in girls.

Epidemiological studies indicate that SR has prevalence in the child population of 2-3%.

Course of the disorder

Ret syndrome usually begins before 4 years of age, usually between the first and second year of life.

As for the progression of the disorder, it is highly distinctive, chronic and loss of skills is usually maintained and progressed. The earlier the onset of clinical signs, the more serious there is.

Generally between the 6 and 18 months is when the regression or evolutionary stagnation of the abilities occurs, followed by a period of loss of the abilities of the language and psych0m0tor skills, that do not develop or are lost completely in the phase of regression. Motor and intellectual problems can increase, leading to a severe mental retardation.

In most cases the recovery is very limited, being observed only in some cases. At the end of childhood or at the beginning of adolescence, some progress can be observed in terms of social interaction.

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Life expectancy does not usually extend beyond late adolescence or young adulthood, even reaching 45 years of age. However, the quality of life they have is minimal and not easy. They need special diets and treatments for their problems, as they present behavioral, aggressive, and emotional problems such as anxiety and depression.

The sudden death in the newborn is higher than in the general population.


A series of complications in diagnosing the SR occur, as is often confused with other disorders such as cerebral palsy, Angel man syndrome, Prader-Willi syndrome and autism. With regard to the latter, the issue is trickier if it fits, since in both the language and social area are affected. However, there are features that may help to make the differential diagnosis.

Presentation5To make the diagnosis, when there is no biological or molecular marker, several aspects based on observation of clinical signs and symptoms and clinical assessment are taken into account.

Types of Ret Syndrome

We talk about two types of Ret syndrome; the classic and the atypical.

The first one will be diagnosed when all the diagnostic criteria are met and the second when all the criteria are met, but they differ in the beginning of the symptoms, in the symptoms that appear at the beginning and in the incomplete clinical manifestations.

In typical or classic SRs, there are a higher percentage of people who develop language and do not present growth retardation. And with respect to the atypical, the highest percentage is of people who retain the ability to grasp (take objects by hand) and ambulation.


With regard to the causes of this disorder, there are still diverse opinions and are neither identified nor codified.

In 1999, mutations in a gene called MECP2, on the X chromosome, were identified as the main genetic cause of SR. This gene has a function of regulating other genes with important functions at the brain level.

The mechanism of functioning of this gene would be altered, producing a shortage of MeCP2 protein production, and generating long-term problems in neurological development.

Having a mutation in this gene means that the person will suffer the disease (80% of the girls); however there are no family cases because the women with this syndrome usually have no offspring.

As such syndrome is only found in women, it was assumed that it was a dominant inheritance syndrome.

However, not all cases are due to this alteration of the gene, but may also occur by mutations in regions of the gene not yet studied, or by the existence of another gene involved in the disease.

Psychological intervention

In relation to intervention in these girls, it is essential that it be performed in a quiet and safe environment, and foster a patient-therapist relationship based on a style of close and structured relationship. Physiotherapy and psycho pedagogical intervention will be complemented.

With regard to psycho pedagogical intervention, an individualized program will be developed that establishes intervention strategies focused on manual skills, minimizing the delay of response that occurs in these subjects and strategies focused on paraxial.

  • Manual skills: individualized and intensive program, soft and appropriate procedures for each patient, motivation and use of music and toys as a means of motivation.
  • Delayed response: reinforce the repetition of simple activities, adapt activities over time, and structure the rehabilitation environment…
  • Minimize the effects of paraxial: plan relevant activities, taking advantage of those aspects with which the patient is already familiar, based on the motivation of the patient and reduce the distracters to the maximum.

In addition, we will intervene in non-verbal communication with the patient through the use of signage with the look, gestures and sounds. It has been seen that music therapy is a particularly effective therapy in these girls, since they often discriminate the sounds to perfection.

Of course, we must also deal with family members, offering them a comprehensive and complete psycho education of the syndrome and teaching them problem-solving strategies that can be applied to them.