Rett syndrome: what is it, symptoms, causes and treatment

Although it is a disorder that is not currently in force in the diagnostic classification of mental disorders, we can still hear about him and there are even some professionals who continue to use this terminology to designate a series of signs and symptoms that we will describe below. continuation.

So if you are curious and would like to know more about Rett syndrome, keep reading! In this Psychology-Online article we explain everything about this pathology: what is Rett syndrome, its symptoms, its causes, its differential diagnosis and its treatment.

Index

1. What is Rett syndrome
2. Symptoms of Rett syndrome
3. Diagnostic criteria for Rett syndrome
4. Causes of Rett syndrome
5. Differential Diagnosis of Rett Syndrome
6. Treatment of Rett syndrome

Rett syndrome is a disorder that currently is discontinued. It was included in the diagnostic classification of the DSM-IV (2002), but in the current edition of 2014 it is not present. At the time, the version of the DSM-IV already pointed out that the available data on this disorder were limited only to case series, being much less frequent, for example, that

The syndrome was characterized by the development of multiple specific deficits after a period of normal functioning after birth.

Image: Babies and more.

Rett syndrome is typically associated with intellectual disability (mental retardation according to DSM-IV) severe or profound. In addition, in subjects suffering from this disorder they present the following symptoms:

• Electroencephalogram abnormalities.
• Seizure disorders, without specific abnormalities that could have been shown through brain neuroimaging techniques.

How is Rett syndrome diagnosed? According to DSM-IV, you need meet the following characteristics In order to diagnose a child with Rett syndrome:

• Apparently normal prenatal and perinatal development.
• Apparently normal psychomotor development during the first 5 months after birth.
• Normal head circumference at birth.

In addition, the following characteristics must be manifested after the period of normal development:

• Deceleration of cranial growth between 5 and 48 months of age.
• Loss of previously acquired intentional manual skills between 5 and 30 months of age, with the subsequent development of stereotyped manual movements.
• Loss of social involvement early in the disorder, although social interaction often develops later.
• Poor coordination of walking or trunk movements.
• Severely impaired expressive and receptive language development, with severe psychomotor retardation.

Although we do not know the exact cause that gives rise to this pathology, we know that it is a genetic disorder, so the main cause of Rett syndrome will be the genetic alteration, generally, of the MECP2 gene, being, in a few cases, an inherited mutation. And it is this mutation that causes problems in the synthesis of protein essential for brain development.

Image: Spanish Association of Rett Syndrome.

ASD (Autism Spectrum Disorder)

Rett's disorder differs from ASD in its characteristic sex ratio and in the profile of its deficits. Rett syndrome has only been diagnosed in girls, unlike ASD, which can also be diagnosed in children. In Rett syndrome there is a characteristic pattern of deceleration of cranial growth and loss of skills, as well as an onset of poor gait and trunk movements coordinated.

In addition, although both have similar difficulties in social interaction, especially in the preschool years, in Rett disorder they tend to be transient. Finally, Rett's disorder is characterized by a severely impaired expressive and receptive language development, unlike TEAs.

Click on our title Autism in adults: symptoms, diagnosis and treatment, if you want to know in detail the different aspects of the TEA.

childhood disintegrative disorder

In this case, as happens with ASDs, Rett syndrome has only been diagnosed in women, while childhood disintegrative seems to be more common in children. Likewise, in childhood disintegrative disorder, the period of normal development typically in the infant is longer, at least up to two years of age.

intellectual disability

In this case, the diagnosis should not be assumed from a certain medical or genetic condition. Rett syndrome linked to intellectual disability will be explicitly taken into account as a concurrent diagnosis.

On the one hand, medical treatment may be required for those effects related to physical and medical aspects. On the other hand, the behavioral and cognitive aspects will require psychological intervention.

Psychological treatment of Rett syndrome

In this line, the objective will be to prevent the resulting difficulties from deepening and promote, as soon as possible, solutions that help activate a family reorganization process. For these cases, it is usually interesting to propose a systemic intervention where the family also participates, the school doing individual plans for curricular adaptation, or, in some cases, special education schools, as well as the rest of the context of the little boy.

Although in most cases recovery is very limited, evolutionary progress can occur and Some interest in social interaction can be observed when the subjects end their childhood or enter the adolescence.

for what is important avoid therapeutic nihilism, since despite being a neurological and developmental disorder, we can make and mobilize resources that offer less suffering to the patient and greater general capacity.

However, communication and behavioral differences tend to remain relatively constant throughout life.

This article is merely informative, in Psychology-Online we do not have the power to make a diagnosis or recommend a treatment. We invite you to go to a psychologist to treat your particular case.

If you want to read more articles similar to Rett syndrome: what is it, symptoms, causes and treatment, we recommend that you enter our category of Clinical psychology.

• American psychiatric association, (2002). Diagnostic and Statistical Manual of Mental Disorders DSM-4. Madrid Spain. Pan American Medical Publishing.
• Ezpeleta, L., & Toro, J. (2014). developmental psychopathology. Madrid: Pyramid.