Rett Disorder is a rare genetic condition that affects the brain's development, primarily in females. Its proper pronunciation is /ɹɛt dɪsˈɔrdɚ/ (rett dis-awr-der), with the middle "t" being pronounced. The word "Rett" is named after the Austrian physician, Andreas Rett, who first described the disorder in 1966. Symptoms of Rett Disorder include loss of speech and motor skills, breathing difficulties, and seizures. Early detection and intervention can improve the quality of life for those with Rett Disorder.
Rett Disorder, also known as Rett Syndrome, is a complex neurodevelopmental disorder that predominantly affects females. It is categorized as a rare genetic disorder that affects the brain's normal development and function. Rett Disorder is characterized by a wide range of symptoms and severity levels, although some common features are prevalent in individuals with this disorder.
One of the distinguishing characteristics of Rett Disorder is a loss of purposeful hand skills and the development of repetitive hand movements, such as hand-wringing or tapping. Additionally, affected individuals often experience a regression in their ability to speak and communicate, accompanied by a diminished interest in social interaction. Many individuals with Rett Disorder also exhibit severe cognitive impairments and difficulties with motor coordination.
Rett Disorder is caused by a mutation in the MECP2 gene, usually occurring sporadically with no family history. This gene mutation affects various aspects of brain development, leading to the hallmark symptoms of the disorder. The specific genetic mutations can vary, which contributes to the heterogeneity of the disorder and the range of symptoms observed.
Diagnosis of Rett Disorder typically occurs between the ages of six months and two years when the characteristic regression and loss of skills become evident. Medical professionals assess developmental milestones, observe physical and behavioral characteristics, and conduct genetic testing to confirm the diagnosis.
While there is currently no known cure for Rett Disorder, interventions such as physical therapy, occupational therapy, speech therapy, and medication management can help manage symptoms and improve the quality of life for individuals living with the disorder. Ongoing research is focused on understanding the underlying mechanisms of Rett Disorder and developing potential targeted treatments.
The word "Rett" in "Rett Disorder" is derived from the surname of Austrian physician Andreas Rett. He first described the disorder in 1966 as a "cerebral atrophy syndrome" affecting young girls. Rett Disorder is also known as Rett Syndrome.