Regarded as a rare, neuro-developmental disorder – Rett’s syndrome causes severe problems in brain development. Typically affecting girls, the condition leads to progressive loss of motor skills and speech. It affects nearly every single aspect of the child’s life such as their ability to speak, eat, walk, write and even breathe easily. Generally, infants and children may develop Rett’s syndrome normally within the initial 6-18 months. However, these children may develop new set of skills and suddenly happen to lose previously acquired skills or abilities like the ability to walk, crawl, ability to vocalize sounds or words and communicate with their hands. Severe abnormalities like impaired control of normal hand movements like hand clapping, rubbing etc. In some other cases, children may develop slow head growth and depict autistic-similar behaviors, feeding and swallowing difficulties, seizures, loss of muscle tone (hypotonia), breathing problems, jerkiness in limb movements and growth retardation. Early diagnosis of symptoms and timely intervention is important to ensure correct treatment for this condition. Developmental pediatricians, child neurologists and child psychologists / psychiatrists who treat Rett’s syndrome patients can rely on reputable medical billing and coding outsourcing companies to report the symptoms and diagnosis correctly.
It is estimated that 1 in 10,000 girls are born with Rett’s syndrome. This means about 15,000 girls and women in the United States and 350,000 worldwide have this disorder. The exact cause for Rett’s syndrome is not fully known. The syndrome generally occurs due to the mutation or error in a gene – called MECP2 (located on the X chromosome). Every person has an MECP2 gene in any one of their cells that produces a protein – MeCP2. In children with this neuro-developmental condition, they develop a mutation in the gene which makes the protein not work properly. The protein plays a crucial role in proper brain cell function.
Stages of Rett’s Syndrome
This genetic, neurological and developmental disorder comprises four different stages, each having its own specific characteristics –
- Stage 1 – Early onset – This stage occurs between 6 and 18 months of age and may at times last for a few months or a year. Symptoms during this stage include – reduced interest in playing with toys, delays in sitting or crawling and low eye contact.
- Stage 2 – Rapid deterioration – Occurring between 1-4 years of age, children in this stage either gradually or rapidly (either within weeks or months) lose their ability to perform certain skills that they previously had.
- Stage 3 – Plateau – This stage starts between the age of 2 and 10 years and can even last for years. Seizures are one of the common symptoms in this stage, although there may be severe problems with behavior and movements.
- Stage 4 – Motor deterioration – Muscle weakness, scoliosis, joint contractures and mobility issues are the common symptoms of this stage. It generally starts after the age of 10 years and may sometimes last for a longer period like years or decades.
Identifying the Common Symptoms
As mentioned, most children with this condition have a normal growth and behavior for the initial six months after their birth. However, symptoms begin to appear after six months. The type of symptoms and severity may vary from one child to another. Generally, some of the most definite changes in behavior may become visible within 12-18 months of their age, within a week or month’s interval. Some of the most common symptoms include –
- Trouble with breathing
- Teeth grinding
- Smaller head size than normal
- Small hands and feet (that are usually cold)
- Slowed growth
- Sleep disturbances
- Seizures
- Restless and crying nature
- Problems with chewing, swallowing and bowel function
- Problems in communication
- Loss of normal movement and coordination
- Loss of cognitive abilities
- Irregular heartbeat
- Curvature of the spine (scoliosis)
- Bones prone to factures
- Abnormal or unusual hand and eye movements
Diagnosing and Treating Rett’s Syndrome
Diagnosis of Rett’s syndrome begins with a careful observation of the child’s growth and development and conducting a medical history review. As this is a rare genetic disorder, it is important to conduct certain tests to identify if some of the other genetic disorders and conditions like Autism, cerebral palsy, metabolic disorders etc are causing symptoms similar to Rett’s syndrome. Diagnostic imaging tests may be recommended by physicians which again may depend on the severity of signs and symptoms. Some of the common diagnostics tests include – Magnetic resonance imaging (MRI), Computerized tomography (CT) scans, blood tests, hearing tests, eye and vision exams and brain activity tests (also called electroencephalograms (EEGs).
There are several criteria for undergoing diagnosis of Rett’s syndrome and these include – partial or complete loss of purposeful hand skills and spoken language, walking abnormalities and repetitive purposeless hand movements (like clapping or tapping, hand-wringing, putting hands in the mouth and rubbing movements). After these initial diagnosis tests, if the physician still thinks that the patient may have Rett’s syndrome, he/she may suggest performing a genetic test (DNA analysis) to confirm the diagnosis.
Even though there is no specific treatment for this condition, certain modalities can help reduce the severity of symptoms and provide essential support to improve communication and movement. Some of the common treatment options include – medications, speech-language therapy, physical and occupational therapy, behavioral intervention and other support services. Specialists, who conduct comprehensive diagnostic evaluation for Rett’s syndrome, must use the right medical codes while billing and coding for the procedures performed. Billing and coding services provided by established medical billing companies can help physicians in using the correct codes for their medical billing process.
The ICD-10 code used for Rett’s syndrome diagnosis is –
- F84.2 – Rett’s syndrome
As the genetic mutation that causes Rett’s syndrome occurs suddenly, it is not possible to prevent the occurrence of the condition early. Many people affected by this brain developmental disorder reach adulthood and those who are less severely affected live till old age. On the other hand, some people die at a young age due to several complications like epilepsy, heart rhythm abnormalities and pneumonia.
Relying on the services of a reliable medical billing and coding company could be invaluable to document Rett’s syndrome correctly. Billers and coders in such reliable medical coding outsourcing companies would ensure accurate reporting of diagnostic details and help avoid claim denials.
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