Rett Syndrome

Diagnosis

The diagnosis of Rett syndrome entails thorough observation of your child’s growth and developmental patterns, alongside discussions about medical and family history. Typically, the diagnosis is contemplated upon the observation of decelerated head growth or regression in skills and developmental milestones.

To confirm a diagnosis of Rett syndrome, it’s essential to exclude other conditions presenting similar symptoms.

Assessing alternative factors contributing to the symptoms

Given the rarity of Rett syndrome, your child may undergo specific tests to discern whether other conditions could be responsible for overlapping symptoms. Some of these potential conditions include:

• Cerebral palsy
• Autism spectrum condition
• Additional genetic conditions
• Visual or hearing impairments
• Metabolic conditions, like PKU (Phenylketonuria)
• Degenerative disorders: they are conditions that lead to the breakdown of the body or brain.
• Brain damage prior to birth (prenatal)
• Traumatic or infectious brain disorders

The testing your child needs will depend on the particular symptoms and indicators. Tests could consist of:

• Blood examination
• Tests for urine
• Diagnostic procedures such as Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) scans (computerized tomography)
• Auditory evaluations
• Exams for eyes and vision
• EEGs, or electroencephalograms, are measurements of brain activity.

Core symptoms

The diagnosis of classical Rett syndrome encompasses the following fundamental symptoms, which may manifest between the ages of 6 and 18 months:

• Repetitive, meaningless hand motions like wringing, squeezing, clapping, tapping, putting hands in the mouth, washing, and rubbing
• Partial or total loss of spoken language
• A partial or total loss of hand abilities with meaning
• Walking issues, such as difficulty walking or incapacity to walk (or any combination of these)

Further symptoms that are characteristic of Rett syndrome may confirm the diagnosis.

The symptoms of atypical Rett syndrome are similar, albeit to differing degrees in severity, and there are subtle variations in the guidelines for diagnosis.

Genetic testing

If your child’s doctor suspects Rett syndrome following assessment, genetic testing (DNA analysis) may be necessary to validate the diagnosis. This procedure involves collecting a small blood sample from a vein in your child’s arm. The blood sample is then sent to a laboratory where the DNA is scrutinized for indications regarding the cause and severity of the disorder. Confirmatory testing for alterations in the MECP2 gene confirms the diagnosis. Genetic counseling can offer insights into gene mutations and their implications.

Treatment

Although there is no cure for Rett syndrome at present, treatments concentrate on symptom management and providing support. The goal of these interventions is to improve mobility, communication, and social interaction, ultimately enhancing the overall quality of life. As individuals with Rett syndrome age, the need for treatment and support continues, often remaining essential throughout their lives. Managing Rett syndrome requires a collaborative team effort.

Treatments beneficial for children and adults with Rett syndrome encompass:

• Consistent health care. Symptom and health management may necessitate a multidisciplinary team. Physical alterations include scoliosis, Gastrointestinal (GI) disorders, and cardiac difficulties require routine monitoring.
• Prescription drugs. While there is no known treatment for Rett syndrome, some of its symptoms may be managed with the aid of medicine. Seizures, muscle stiffness, respiration, sleep, gastrointestinal (GI), or heart issues can all be treated with medication.
• Treatment with physical therapy. Children with scoliosis or those in need of hand or joint support can benefit from physical therapy as well as the use of braces or casts. Physical treatment occasionally helps with maintaining mobility, establishing a good sitting posture, and enhancing flexibility, balance, and walking abilities. A wheelchair or other assistive device might be useful.
• Occupational medicine. Occupational therapy holds promise in improving purposeful hand use for activities such as dressing and eating. Splints designed to restrict elbow or wrist movements may prove beneficial if repetitive arm and hand movements are problematic.
• Language and speech treatment. A child’s life can be improved by speech-language therapy by teaching them nonverbal communication techniques and assisting them with social engagement.
• Provision of nutrients. For healthy growth and for enhanced mental, physical, and social capacities, proper diet is crucial. It could be advised to follow a diet high in calories and balance. It’s crucial to use feeding techniques to avoid choking or vomiting. It might be necessary for some kids and adults to have their food through a gastrostomy, or tube inserted straight into the stomach.
• Intervention based on behavior. Sleep disorders may improve with the adoption of healthy sleep habits and the implementation of treatments targeting problematic behaviors.
• Assistance programs. Early intervention programs and services focusing on education, employment, and socialization can help integrate individuals with Rett syndrome into work, school, and social activities. Special accommodations may be provided to enable participation in these areas.