Rett syndrome [RTT] or cerebroatropic hyperammonemia is a rare disorder that affects the way the human brain develops and functions. It is an infrequent condition that affects about one in 10,000 to 15,000 girls, but it is sometimes found in male patients. Although Rett syndrome is an uncommon genetic disorder, less than one percent of recorded cases are passed from generation to another. Most of the cases are natural, meaning that mutation is the core cause of the condition.
Rett syndrome is described by scientists in four stages. Stage one or the early onset begins between 6 and 18 months of age. This stage is commonly unnoticed as the symptoms are rather elusive. Doctors and parents fail to notice them. Infants may show less eye contact or lack of interest in toys or experience delays in motor skills like crawling or sitting. Stage two or the rapid destructive phase commences between age of 1 and 4 years and may last for months. At this stage a child may experience loss in determined spoken language or hand skills and breathing abnormalities.
Stage three or the pseudo-stationary phase of Rett syndrome begins at the age of 2 to 10 years and can last for years. Motor issues, apraxia and seizures are quite common during this stage. A girl at this stage may experience interest in the environs, improved communication skills, alertness and less autistic traits. Stage four or the late motor decline phase entails noticeable features such as reduced mobility, scoliosis, muscle weakness, and abnormal posturing of arms. Cognition and communication do not decrease at this stage.
Rett syndrome is genetically caused by mutation in the Methyl CpG Binding Protein 2 [MCEP2] gene located on the X chromosome. RTT can also arise intermittently and a typical form of the disorder characterized by infantile spasms or early epilepsy can be caused by mutation of the gene encoding Cyclin-Dependent Kinase-Like 5 [CDKL5]. The MECP2 gene is essential for development of brain and also acts as a biochemical switch that increase gene expression leading to unique protein production.
Most of the Rett syndrome symptoms are elusive and they vary with age. At each stage, the patient exhibits different symptoms. Here are a number of signs and symptoms of RTT and they are;
- Loss of speech and motor control
- Hand skills replaced by compulsive hand movements
- Desolate crying
- Avoidance of eye contact
- Difficulties in breathing
- Bruxism[ grinding of teeth]
- Severe digestive problems
- Microcephaly [abnormal growth of head]
- Fragile bones and scoliosis
- Extreme anxiety
- Hypotonia and
Currently, there is no cure for Rett syndrome. However, studies on the disorder have shown that restoring MECP2 gene function can present a great cure. Doctors can easily diagnose RTT by observing signs and symptoms at every stage of growth and development. A focus on the management of the symptoms and relying on a multidisciplinary plan can aid reduce the RTT defects. Parental counselling, modifying social medications, sleep aids, management of gastrointestinal and nutritional difficulties, increase patient communication skills, surveillance of scoliosis, anti-psychotics and physical therapy are exclusive ways that can aid control the effects of Rett syndrome.
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Fragile X Syndrome
Genetic syndrome disorders are quite sporadic and the Fragile X syndrome [FXS] is one of the disorders affecting 1 in 4000 males and 1 in 4000 females. FXS also referred to as Martin-Bell syndrome or Escalante’s syndrome is a common single-gene cause of autism, an inherited cause of Intellectual disability and behavioral or learning challenges. It normally affects more males than females. There are numerous causes of FXS and a number of characteristics to look at and find the best diagnosis or treatment of fragile X syndrome.
Fragile X syndrome [FXS] is associated with the growth of the CGG trinucleotide repeat that affects the fragile X mental retardation 1 [FMR1] on the X chromosome and results in a failure to easily express the fragile retardation X mental retardation protein [FMRP] essential for normal neural development. Mutations in the FMR1 cause fragile X syndrome. The FMR1gene is responsible for instructions for making protein FMRP which help in regulating the production of other proteins and in the development of synapses, specialized links between nerve cells.
Approximately all cases of fragile X syndrome are caused by mutation whereby a DNA segment CGG triplet is repeated 5 to 40 times and expanding inside the FMR1. In cases where an individual has been diagnosed with FXS, the CGG segment is repeated more than 200 times. Whenever the FMRP protein is lost, the nervous system is disturbed and fails to function normally leading to a number of FXS symptoms. In case of men or female with 55 to 200 repeats of the CGG segment FMR1 gene permutation is likely to occur. Such individuals are typically intellectually normal. Individuals with a permutation that is lower than normal amounts of the FMRP protein have mild versions of physical traits common in FXS and may experience anxiety and depression among other problems.
Intellectual disability is the most conspicuous trait of FXS. Nevertheless, there are a number of symptoms associated with fragile x syndrome. These features occur in both genders but they vary in one way or another, but they are more severe in males. The core features of fragile X syndrome in men include;
- Intellectual disability
- Large ears and long face
- Large testicles [Macroorchidism] in post-pubertal men
- Ear infections
- High arched palate
- Double jointed fingers
- Hyper-flexible joints
- Autism and autistic behaviors
- Social anxiety
- Poor eye contact and Sensory disorders
Normally, no one individual will have all the symptoms of fragile X syndrome. Some of the features only occur in puberty. When it comes to women, here are a few features of FXS to contemplate although they may have similar traits as those seen in men and they include;
- Milder intellectual disabilities
- General anxiety
- Emotional issues
- Hyper-extensible finger joints and thumps
- Large and protruding ears
- Soft skin
- Vertical maxillary excess [long face]
- Hyptonia among others.
Individuals diagnosed with fragile X syndrome may face different challenges in their lives. But they can be quite productive and attractive if presented with the best support and interventions. There are no current treatments of FXS defects, but patients can always seek medications for symptoms based treatments. This helps reduce the secondary features of FXS. Genetic counselling to determine full mutation or permutation is essential. Stimulants that target attentional problems or hyperactivity can aid. Antidepressants, antipsychotics, anticonvulsants and behavioral therapy or educational plans can aid help treat physical abnormalities.