Rett syndrome is an autism spectrum disorder which begins in early childhood and occurs mainly in girls. It is characterized by the presence of microcephaly and the loss of motor skills acquired during the first months of life.
These and other symptoms are caused by genetic mutations related to the X chromosome. Although at the moment Rett disorder has no cure, there are treatments and interventions that can alleviate the different problems it causes and improve the quality of life of girls with this syndrome.
In 1966, the Austrian neurologist Andreas Rett described a childhood-onset disorder consisting of “cerebral atrophy with hyperammonemia,” that is, characterized by excessive levels of ammonia in the blood. Later the relationship of this syndrome with hyperammonemia would be refuted, but the clinical picture described by Rett would be named after his surname.
Rett syndrome is an alteration of physical, motor and psychological development which occurs between the first and fourth year of life, after a period of normal growth. The most characteristic symptoms are the slowdown of cranial development and the loss of manual skills, as well as the appearance of stereotyped hand movements.
This disorder occurs almost exclusively in girls; In fact, both the ICD-10 and the DSM-IV state that it only affects female people, but some cases of Rett syndrome have recently been detected in children.
Related article: “The 4 types of Autism and their characteristics”
Relationship with other autism spectrum disorders
Currently the DSM-5 classifies it within the category “Autism Spectrum Disorders” (ASD)a label it shares with other more or less similar syndromes that were differentiated in the DSM-IV: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified.
In this sense, Rett syndrome is considered a neurological disease, not a mental disorder. For its part, the ICD-10 classification categorizes Rett disorder as an alteration of psychological development. Specifically, according to this medical manual it is a pervasive developmental disorder, a conception similar to that of the DSM-IV.
Rett syndrome differs from childhood disintegrative disorder in that it usually begins earlier: while the former usually occurs before the age of 2, childhood disintegrative disorder occurs slightly later and its symptoms are less specific. Furthermore, Rett syndrome is the only autism spectrum disorder that It is more prevalent in women than in men.
Symptoms and signs of this disorder
Prenatal and perinatal development of girls with Rett syndrome is normal during approximately the first 5 or 6 months of life. However, in some cases the little one can continue growing normally until she is 2 or 3 years old.
After this period Skull growth slows and there is a decline in motor skillsespecially fine hand movements; Consequently, repetitive or stereotyped hand movements develop, including writhing and wetting with saliva.
In addition to microcephaly and hand disorders, people who have Rett disorder may present a series of associated signs and symptoms with a variable frequency:
The cause of this disorder is the mutation in the MECP2 gene.which is located on the X chromosome and plays a fundamental role in the functioning of neurons. Specifically, MECP2 silences the expression of other genes, preventing them from synthesizing proteins when it is not necessary. It also regulates gene methylation, a process that modifies gene expression without altering DNA.
Although alterations in this gene have been clearly identified, the exact mechanism by which the symptoms of Rett syndrome develop is not known.
Mutations in the MECP2 gene in general They do not depend on inheritance but are usually randomalthough a family history of Rett disorder has been found in a small number of cases.
Prognosis and treatment
Rett syndrome lasts throughout life. Deficits are not usually corrected; rather they tend to increase over time. If it occurs, the recovery is discreet and is usually limited to the improving social interaction skills at the end of childhood or at the beginning of adolescence.
The treatment of Rett syndrome is fundamentally symptomatic, that is, focused on reducing multiple problems. Therefore, interventions vary depending on the specific symptom that is intended to be alleviated.
At a medical level, antipsychotic drugs and beta-blockers are usually prescribed, as well as selective serotonin reuptake inhibitors. Nutritional control can help prevent weight loss which typically stems from difficulties chewing and swallowing food.
Physical, linguistic, behavioral, and occupational therapy may also be helpful in reducing the physical, psychological, and social symptoms of Rett syndrome. In all cases, intense and continuous support is required from different types of health services to ensure that girls with Rett develop in the most satisfactory way possible.
