Rett syndrome (RTT)

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Rett syndrome (RTT) is a rare, severe, genetic brain disorder that mostly affects females and it usually becomes apparent six to eighteen months after birth (Andreas 429). Although Rett syndrome has no cure, early diagnosis and treatment may significantly assist the girls and families affected by the disorder (Andreas 430). Rett syndrome was traditionally considered to be part of or associated with the Autism Spectrum Disorder. However, it has now been proven that is a genetically-based neurological condition (Chin Wong et al. 1204). This paper explores Rett syndrome with the focus on its symptoms, causes, diagnosis, and treatments.

Symptoms of Rett Syndrome

            The age for the symptoms’ appearance varies from child to child, though most female children with Rett syndrome tend to experience normal growth within the first six months after birth before the observation of any signs of the disorder (Wood and Shepherd 281). Most symptoms often appear when babies are between twelve and eighteen months, and they can either be sudden or gradual. Some of the most common Rett syndrome symptoms include the following;

Slowed or Retarded growth- This is often characterized by abnormal brain growth and small head (microcephaly).

Hand movement problems- Most babies with Rett syndrome, have weak and inactive hands.

Lack of language skills- Children with Rett syndrome begin to lose social and language skills between ages one to four (Wood and Shepherd 281).

Coordination and muscles problems- This involves awkward walking in children.

Breathing problems- Children with Rett syndrome may experience uncoordinated breathing and seizures, including forceful exhalation of air, very fast breathing (hyperventilation), and swallowing of air.

Children suffering from Rett syndrome also tend to be irritable and tensed as they grow older (Wood and Shepherd 282).

            The effects of Rett syndrome can be more severe in some children than others, and a child with Rett syndrome might not show all the symptoms listed above. The symptoms of Rett syndrome are often described in four different stages, although some symptoms usually overlap between successive phases.

Stage I: Early Signs

            The child will first appear to have normal growth within the first six months, although there might be little signs of Rett syndrome before the disorder is discovered in the child. Stage I is sometimes referred to as ‘stagnation’ due to the gradual decline and ultimate stoppage of the child’s development (Shah and Bird 121). The various symptoms exhibited in stage I include difficulty feeding, hypotonia (low muscle tone), unusual hand movements, delayed speech development, as mobility and social problems. Stage I symptoms usually begin between six to eighteen months of the child’s life and can persist for several months. Besides, Stage I symptoms occur gradually and may go unnoticed by both the child’s parents and healthcare professionals (Shah and Bird 122).

Stage II: Regression

            This is sometimes described as the ‘rapid destructive stage,' characterized by the lose of the child's abilities. Stage II often begins between ages one and four and may continue for several months, even up to two years. The child suddenly or gradually starts developing severe problems with language and communication, hand use, memory, coordination, mobility, and various brain functions (Wood and Shepherd 284). Some of the Stage II signs include loss of the purposeful use of hands, social withdrawal, slowed head growth, difficulty eating, awkward and unsteady walking, as well as periods of irritability and distress. The child may also experience slow or rapid breathing, as well as swallowing of air in the later stages of regression (Wood and Shepherd 284).

Stage III: Plateau

            The third stage of Rett syndrome can start as early as age two or as late as age ten. Stage II usually lasts for several years, with most girls staying in this stage for the better part of their lives. Some of the problems experienced in stage II may improve in Stage III (Andreas 433). For instance, children may experience improvements in behavior, with less crying and reduced irritability. Children may also gain social ability by developing an interest in their surroundings and the people around them (Andreas 435). Besides, children may improve their alertness, communication, walking ability, and attention span. However, despite such possible improvements, Stage three is also characterized by various problems, which may include seizures, worsening of irregular breathing patterns, teeth grinding, and abnormalities in heart rhythm (arrhythmias). Children may also experience difficulties in gaining and maintaining weight (Andreas 435).

Stage IV: Deterioration in Movement

            Stage IV can last for several years, or decades. The typical symptoms at the fourth stage include the development or growth of a spinal curve (scoliosis), muscle spasticity (abnormal stiffness, especially in the legs) and weakness, as well as the loss of walking ability. Language skills, communication, and brain functions do not worsen during the fourth stage, and the child may experience improvements in hand movements and eye gaze (Shah and Bird 126). Besides, seizures may become less problematic in Stage IV (adolescence and early adulthood), although it is often a lifelong problem. Rett syndrome symptoms are usually persistent, which makes the disorder a permanent condition. The symptoms often worsen gradually or persist without significant changes. It is therefore rare for individuals with Rett syndrome to live independently (Shah and Bird 127).

Causes of Rett Syndrome

            Most children suffering from Rett syndrome have mutations on their X chromosomes. However, it is not clear how the mutation on the X chromosome leads to Rett syndrome (Krishnaraj, Gladys, and Christodoulou 925). Although Rett syndrome is considered to be a genetic disorder, the faulty gene is usually not inherited by children from their parents. Instead, it is a chance mutation that occurs in the DNA. When male children develop Rett syndrome mutation, they hardly live past birth (Krishnaraj, Gladys, and Christodoulou 926). Males usually have one X chromosome, as opposed to females who have two. The effects of the Rett syndrome are therefore much more severe, and always fatal in males (Krishnaraj, Gladys, and Christodoulou 928).

Diagnosis of Rett Syndrome

            Rett syndrome diagnosis is based on the pattern of its symptoms and the behavior of female children (Chin Wong et al. 1207). Doctors usually make the diagnosis by assessing such observations, as well as interrogating the children’s parents regarding the first appearance of the symptoms. Since Rett syndrome is a rare condition, doctors will first rule out the possibility of other conditions such as autism spectrum disorder, metabolic disorders, cerebral palsy, and prenatal neurological disorders (Chin Wong et al. 1209). DNA testing can assist doctors in confirming the diagnosis of Rett syndrome in 80 percent of female children suspected to have Rett syndrome. The DNA tests may also predict the severity of the disorder (Chin Wong et al. 1211).

Treatment of Rett Syndrome

            The treatment of Rett syndrome often gets directed at improving the symptoms since the disorder has no cure. Patients are supposed to use the identified or recommended medications for their entire life (Andreas 438). Some of the best available options for treating Rett syndrome include physical therapy, occupational therapy, behavioral therapy, speech therapy, proper nutrition, supportive services, as well as standard medication and medical care (Shah and Bird 129). Medical experts believe that treatment can assist both the female children with Rett syndrome and their families (Wood and Shepherd 286). Besides, medicine can be used to treat or control movement and seizure problems. Most girls with Rett syndrome can survive into their middle age (Chin Wong et al. 1213).

Works Cited

Andreas, Bo Olsson. "Autism and Rett Syndrome: Behavioral Investigations and Differential Diagnosis." Developmental Medicine & Child Neurology 29.4 (2008): 429-441. Web.

Chin Wong, Lee, et al. "Variations of Stereotypies in Individuals with Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan." Autism Research 10.7 (2017): 1204-1214. Web.

Krishnaraj, Rahul, Gladys Ho, and John Christodoulou. "Rettbase: Rett Syndrome Database Update." Human Mutation 38.8 (2017): 922-931. Web.

Shah, Ruth R., and Adrian P. Bird. "Mecp2 Mutations: Progress Towards Understanding and Treating Rett Syndrome." Genome Medicine 9.1 (2017): 121-133. Web.

Wood, Lydia, and Gordon M.G. Shepherd. "Synaptic Circuit Abnormalities of Motor-Frontal Layer 2/3 Pyramidal Neurons in A Mutant Mouse Model of Rett Syndrome." Neurobiology of Disease 38.2 (2010): 281-289. Web.

August 09, 2023



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