Researchers hope this system could provide an early warning signal not just for
Rett syndrome but for ASD in general.
It further shows that the algorithm can accurately detect if a girl has
Rett syndrome, a genetic disorder that impairs cognitive, sensory, motor, and autonomic function starting at 6 to 18 months of age, as well as autism-like behaviors.
The study evaluated 82 females with
Rett syndrome aged five to 15 years and found at the highest dose (200 mg/kg twice daily or BID) trofinetide achieved statistically significant improvement compared with placebo on three of five syndrome-specific efficacy measures: the
Rett Syndrome Behaviour Questionnaire, a caregiver assessment (p=0.042), the Clinical Global Impression Scale-Improvement (CGI-I), a clinician assessment of the improvement of
Rett syndrome (p=0.029), and the RTT-Clinician Domain Specific Concerns-Visual Analog Scale (RTT-DSC), a clinician assessment (p=0.025).
Six months later, Amy was diagnosed with
Rett Syndrome, a neurological condition which can lead to physical and sometimes mental disability.
The product is a novel synthetic analogue of the amino-terminal tripeptide of IGF-1 designed to treat the core symptoms of
Rett syndrome by reducing neuroinflammation and supporting synaptic function.
After a gruelling series of tests, Liz was given the heartbreaking news that Sophie suffered from
Rett syndrome and the likelihood was the condition would progress so she would never walk or talk.
Rett syndrome is a genetic neurological disorder that occurs almost exclusively in females and becomes apparent after 6-18 months of early normal development.
Rett syndrome affects the ability to swallow and also disrupts sleep patterns, cognitive development, heart and motor skills and communication.
I know a lot of girls with
Rett Syndrome as they get older they do suffer with depression.
Specific mutations in methyl-CpG-binding protein 2 confer different severity in
Rett syndrome. Neurology.
The authors heartily thank the internationally recognized illustrator Roberto Innocenti (http://www.robertoinnocenti.com) for the continued support and the sensitization work towards
Rett syndrome and Dr.