Rett syndrome: causes, symptoms and treatment

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 linked to the X chromosome. Although Rett’s disease is not currently treated, there are treatments and interventions that can alleviate the various problems involved and improve the quality of life of girls with this syndrome.

    What is Rett Syndrome?

    In 1966, Austrian neurologist Andreas Rett described a childbirth disorder consisting of “cerebral atrophy with hyperammonemia”, ie characterized by excessive levels of ammonia in the blood. Later, the relationship of this syndrome to hyperammonemia would be refuted, but the clinical picture described by Rett would be baptized with his last name.

    Rett syndrome is an impairment 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 in cranial development and loss of manual skills, as well as the appearance of stereotypical hand movements.

    This disorder occurs almost exclusively in girls; in fact, ICD-10 and DSM-IV indicate that it only affects women, but some cases of Rett syndrome have recently been detected in children.

    Because men have only one X chromosome, on which the genetic defects of Rett syndrome are found, symptoms are corrected to a lesser extent than in women, resulting in more severe variants that carry risk. higher premature death.

    Related article: “The 4 types of autism and their characteristics”

    Relationship to other autism spectrum disorders

    The DSM-5 currently ranks it in the Autism Spectrum Disorders (ASD) category, A label that shares with other more or less similar syndromes that differed in DSM-IV: Autistic Disorder, Asperger’s Syndrome, Childhood Disintegrative Disorder, and Unspecified Generalized Developmental Disorder.

    In this sense, it is considered to be Rett syndrome a neurological disease, not a mental disorder. For its part, the CIE-10 classification classifies Rett’s disorder as an impairment of psychological development. Specifically, according to this medical manual, it is a common developmental disorder, a design similar to that of the DSM-IV.

    Rett syndrome differs from childhood disintegrative disorder in that it usually starts earlier: while the first usually occurs before the age of 2, childhood disintegrating disorder occurs a little later and its symptoms are less specific. In addition, Rett syndrome is the only autism spectrum disorder that it is more common in women than in men.

    Symptoms and signs of this disorder

    The prenatal and perinatal development of girls with Rett syndrome is normal for the first 5-6 months of life, or so. However, in some cases, the little one can continue to grow normally for up to 2 or 3 years.

    After this period the growth of the skull slows down and there is a decrease in motor skills, Especially beautiful movements of the hands; therefore, repetitive or stereotypical manual movements are developed, which include twisting and moistening with saliva.

    In addition to microcephaly and manual alterations, people with Rett’s disorder they can have a number of associated signs and symptoms variable frequency:

    • Severe intellectual disability.
    • Gastrointestinal disorders such as constipation.
    • Alterations in brain bioelectrical activity and the onset of epileptic seizures.
    • Lack of language or severe language deficits.
    • Deficits in social interaction, although interest in others is maintained.
    • Difficulty walking, Discoordination of gait and trunk movements.
    • Bad chewing.
    • Respiratory disorders such as hyperventilation, apnea or air retention.
    • Scoliosis (abnormal curvature of the spine).
    • Babeo.
    • Difficulties controlling the sphincter.
    • brief spasms (Korea) and involuntary contortions (athetosis).
    • Muscle hypotonia.
    • Characteristic social smile during infancy.
    • Avoid eye contact.
    • Screaming ramps and uncontrollable screams.
    • Bruxism (sawing your teeth involuntarily).
    • Cardiovascular disorders such as arrhythmia.

    the causes

    The cause of this disorder is the mutation of the MECP2 gene, Which is located on the X chromosome and plays a key role in the functioning of neurons. Specifically, MECP2 silences the expression of other genes, preventing them from synthesizing proteins when not needed. It also regulates gene methylation, a process that changes gene expression without altering DNA.

    Although alterations in this gene have been clearly identified, the exact mechanism by which symptoms of Rett syndrome develop is unknown.

    MECP2 gene mutations in general they do not depend on inheritance but are generally random, Although in a small number of cases a family history of Rett’s disorder has been found.

    Prognosis and treatment

    Rett syndrome persists throughout life. Deficits are generally not corrected; rather, they tend to increase over time. In the event that this occurs, recovery is inconspicuous and is usually limited to improve social interaction skills in late childhood or early adolescence.

    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 relieved.

    Medically, antipsychotics and beta blockers are often prescribed, as well as selective serotonin reuptake inhibitors. Nutritional control can help prevent weight loss which is generally derived from difficulty chewing and swallowing food.

    Physical, language, behavioral, and occupational therapy can also be helpful in reducing the physical, psychological, and social symptoms of Rett syndrome. Either way, intense and ongoing support from different types of health services is needed to enable girls with Rett to develop as satisfactorily as possible.

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