Rett Syndrome is a rare genetic disorder that affects mainly girls. The spelling of "Rett" is phonetically transcribed as /rɛt/. The first sound, /r/, is a voiced alveolar consonant made by vibrating the tongue against the alveolar ridge, and the second sound, /ɛ/, is an unrounded mid front vowel made by opening the mouth while pushing the tongue to the front. The spelling of "Syndrome" is phonetically transcribed as /sɪnˌdroʊm/. The stress is on the second syllable, and the sounds /s/, /ɪ/, /n/, /d/, /r/, /oʊ/, and /m/ are pronounced as in the English language.
Rett syndrome is a rare genetic neurological disorder that primarily affects females. It is characterized by a wide range of developmental impairments, predominantly seen in motor and cognitive abilities. The condition typically becomes apparent around 6–18 months of age, when affected children often lose acquired skills such as purposeful hand use and speech. As the disorder progresses, individuals with Rett syndrome may exhibit distinctive repetitive hand movements, such as hand-wringing or hand-to-mouth movements, and experience difficulties with coordination and balance.
The underlying cause of Rett syndrome is a mutation on the MECP2 gene, which is located on the X chromosome. This gene mutation leads to abnormalities in the production of a protein critical for normal brain development. However, it is important to note that Rett syndrome can also occur due to mutations in other genes or can be caused by random genetic changes.
In addition to motor and cognitive impairments, individuals with Rett syndrome may also experience breathing irregularities, seizures, anxiety, and gastrointestinal issues. Due to the complexity of symptoms and individual variation, treatment approaches often involve a multidisciplinary team of healthcare professionals to address specific needs. Management strategies may include speech therapy, occupational therapy, physical therapy, and medication to alleviate associated symptoms.
Rett syndrome is a lifelong condition, requiring ongoing support and care. Although individuals with Rett syndrome have significant challenges, with proper interventions and support, they can lead fulfilling lives and achieve their maximum potential.
The word "Rett Syndrome" is named after Dr. Andreas Rett, who first identified the condition in 1966. Dr. Rett was an Austrian pediatrician who observed and documented the syndrome in a group of girls with similar neurological symptoms. The name "Rett Syndrome" was given to honor his significant contributions in identifying and raising awareness about the disorder.