Rett Syndrome is a neurological disorder that affects development, particularly in the areas of speech and hand usage. It is included in the autism spectrum disorders and usually affects females.
The condition was first described by an Austrian pediatrician Andreas Rett in 1966, and hence its name.
Rett syndrome is usually caused by mutation(s) in the MECP2 gene which is located on the X-chromosome. It is known to affect 1 out of 10,000 children.
The symptoms become visible between 3 months to 3 years of age. The affected infants have normal development initially; eventually they begin to lose their skills. They stop talking or walking all together despite the fact that they used to do these functions earlier.
They stop using their hands and adopt stereotyped hand movements, such as wringing, patting or clapping their hands.
The following are the phases of the disease:
► Early Onset Phase – when the development of the child stops
► Rapid Destructive Phase – The child loses skills such as speech and hand movements and rapidly regresses
► Plateau Phase – The downward trend slows and the symptoms seem to improve. People spend the majority of the time in this phase
► Late Motor Deterioration Phase – The affected individuals may lose muscle tone and become stiff and eventually immobile
There is no permanent cure for this disorder but symptoms can be managed with medications.
Girls with Rett syndrome grow to become adults but they need help with their daily activities.
Latest Publications and Research on Rett SyndromeTranscriptome level analysis in Rett syndrome using human samples from different tissues. - Published by PubMed
Epilepsy in classic Rett syndrome: Course and characteristics in adult age. - Published by PubMed
Common Defects of Spine Dynamics and Circuit Function in Neurodevelopmental Disorders: A Systematic Review of Findings From in Vivo Optical Imaging of Mouse Models. - Published by PubMed
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. - Published by PubMed
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population. - Published by PubMed