Rett syndrome


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Rett syndrome

[′ret ‚sin‚drōm]
(psychology)
An inherited developmental disorder observed only in females that is characterized by a short period of normal development, followed by loss of developmental skills (particularly purposeful hand movements) and marked psychomotor retardation. A brief autistic-like phase may be observed during the preschool period, but the subsequent course and clinical features are markedly different from autism.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
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.