Rett's syndrome
ICD-10 F84.2 is a billable code used to indicate a diagnosis of rett's syndrome.
Rett's syndrome is a rare neurodevelopmental disorder that primarily affects females and is characterized by normal early growth followed by a period of regression in development. This condition typically manifests between 6 to 18 months of age, after which affected individuals experience a loss of purposeful hand skills, development of repetitive hand movements, and a decline in communication abilities. Patients may also exhibit gait abnormalities, seizures, and cognitive impairment. The disorder is caused by mutations in the MECP2 gene, which plays a crucial role in brain development and function. Diagnosis is primarily clinical, based on the presence of characteristic symptoms and developmental history. While there is no cure for Rett's syndrome, early intervention with therapies such as physical, occupational, and speech therapy can help improve quality of life and functional abilities. The complexity of managing Rett's syndrome lies in its varied presentation and the need for a multidisciplinary approach to care, including neurologists, geneticists, and therapists.
Detailed developmental history, including milestones and regression patterns.
Diagnosis of Rett's syndrome in a child presenting with loss of skills and hand movements.
Documentation must clearly outline the timeline of developmental changes and any genetic testing performed.
Neurological assessments, seizure activity documentation, and cognitive evaluations.
Management of seizures in a patient with diagnosed Rett's syndrome.
Neurologists should document the impact of seizures on overall development and function.
Used during routine check-ups to assess developmental milestones in children suspected of having Rett's syndrome.
Document the specific developmental concerns and results of the screening.
Pediatricians should ensure comprehensive developmental assessments are performed.
Key symptoms include loss of purposeful hand skills, development of repetitive hand movements, gait abnormalities, and cognitive decline, typically observed after a period of normal development.