He Rett syndrome (SR) is a generalized developmental disorder that affects a variety of brain areas, including motor and language, and is most prevalent in the female gender.
With regard to the cultural aspect, the racial and ethnic studies carried out ensure that it is distributed all over the world.
This disease is named after the pediatrician Rett, 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 Hagberg describes the clinical picture based on a multicenter study of 35 girls.
Diagnosis of Rett Disorder
Rett syndrome appears in the diagnostic classifications as a disorder that occurs in childhood and adolescence.
In the International disease classification (CIE), Rett syndrome appears in the chapter of psychological development disorder.
For its part, the Mental Illness Diagnostic Manual (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 Rett's disorder.
The most current version of the 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 Rett 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 Rett disorder, the following characteristics should be met.
- "Normal"prenatal and perinatal development.
- Apparently normal psychomotor 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 involvement deficient in the onset of the disorder, although frequently afterwards it develops normally.
- Poor coordination of gait or trunk movements.
- Development of expressive and receptive language, severely affected and with severe psychomotor retardation.
Stages of Rett Disorder
The main characteristic aspect that underlies these people is that from birth, during the pre-natal and perinatal period, 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)
There is a slowing of cephalic growth, which will lead to a Microcephaly With implications in language and eye contact. There is a decrease in weight and height, as well as less growth of 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 the psychomotor skills that the girl had previously developed. Also appears Mental retardation , Autistic manifestations, irregular breathing (hyperventilation and apnea of onset between 3 and 7 years), stereotyped movements of the hands and Bruxism . The latter presents special characteristics such as noises presented in the back of the mouth, whose sound is hollow.
In addition, they may experience laughter during the night and crying crises during the day.
Convulsive seizures also occur, occurring in 80% of cases, starting at around 4 years of age, and having a peak of frequency at 7-12 years, as well as a tendency to reduce them. They occur more frequently in cases of Rett Syndrome with early onset and deterioration of more severe psychomotor development.
Sleep disorders also occur; This is often interrupted by frequent nocturnal awakenings. In addition, REM sleep Or the dream of paradoxical movements is 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 a scoliosis Marked, started around 8-10 years and progressive. As well as affecting 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 the Down's Syndrome , Rett Syndrome is the second most common cause of mental retardation in girls.
Epidemiological studies indicate that SR has a prevalence in the child population of 2-3%.
Course of the disorder
Rett 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 in character and loss of skills is usually maintained and progressed. The earlier the appearance of clinical signs, the more serious there is.
Generally between 6 and 18 months is when regression or evolutionary stagnation of skills occurs, followed by a period of loss of language skills and psychomotor skills, which do not develop or are completely lost in the regression phase. 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.
Life expectancy does not usually extend beyond late adolescence or young adulthood, even reaching 45 years of age. Nevertheless, quality of life That 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 Y depression .
The sudden death In the newborn is greater than in the general population.
Complications
There are a number of complications when it comes to diagnosing SR, since it is often confused with other disorders such as Cerebral palsy , Angelman syndrome , Prader-Willi syndrome Y autism . With respect to the latter, the issue is more tricky 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.
The following table lists these.
To make the diagnosis, when there is no biological or molecular marker, several aspects are taken into account based on the observation of clinical signs and symptoms and clinical assessment.
Types of Rett Syndrome
We talk about two types of Rett syndrome; The classic and the atypical .
The first 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 those typical or classic SRs, there is 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 capacity of grasping (picking objects by hand) and ambulation.
Causes
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, X chromosome . This gene has a function of regulation of other genes with important functions at the cerebral 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 women with this syndrome usually have no offspring.
Since this syndrome occurs only 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 psychopedagogical intervention will be complemented.
With regard to psychopedagogical 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 Apraxia .
- 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.
- Delay in response : Reinforce the repetition of simple activities, adapt activities over time, structure the rehabilitation environment...
- Minimize effects of apraxia : To plan relevant activities, and taking advantage of those aspects with which the patient is already familiar, based on the motivation of the patient and reduce the distractors to the maximum.
In addition, non-verbal communication With the patient through the use of the signaling with the look, gestures and sounds. It has been found that Music therapy Is a particularly effective therapy in these girls, since they often discriminate the sounds to perfection.
Of course, it will also be necessary to deal with the relatives, offering them a complete and complete psychoeducation of the syndrome and teaching them Problem-solving strategies That can be applied with them.
References
- AMERICAN PSYCHIATRIC ASSOCIATION (APA). (2002). Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR . [Links]
- AMERICAN PSYCHIATRIC ASSOCIATION (APA). (2014). Diagnostic and Statistical Manual of Mental Disorders DSM-5 . [Links]
- Belloch, A., (2008), Manual of Psychopathology II , Madrid Spain. S.A. Mcgraw Hill.
- ICD-10 (1992). Mental and behavioral disorders. London: Oxford University Press.
- Fernández Lozano, M., Puente Ferreras, A., Barahona Gomariz, M.J. And Palafox Bogdanovith, A. (2010). Behavioral and cognitive traits of the RETT, Cri-du-chat, X-fragile and Williams syndromes.
- Gener, B and Martínez González, M.J. (2009). Rett Syndrome. Spanish Journal of Pediatrics , 65/1), 42-47.
- Villalba Herrera, E. (2014). Rett Syndrome. Clinical Update Magazine , Vol. 46.
- Díaz Atienza, J. Rett's syndrome. Child psychiatry.
- Image source.