Rett's syndrome in the west of Scotland, 1985
- Vaccine Affect
- Feb 14
- 2 min read
Updated: Feb 19
A M Kerr, J B Stephenson
Rett's syndrome in the west of Scotland
Br Med J (Clin Res Ed) 985;291:579
Published 31 August 1985
Abstract
"Nineteen girls with characteristic features of Rett's syndrome, including normal initial development, regression at about 12 months of age, repetitive hand movements, and severe mental handicap were studied. This represents an estimated incidence of one in 30 000 live births (one in 15 000 girls) in the west of Scotland. Although the children were often initially considered to be autistic, they did not conform to this diagnosis as they made good personal contact within the limits of their mental development. The developmental regression was sometimes falsely attributed to vaccination. Each child showed striking involuntary movements and abnormality of tone, varying from hypotonia, which was found only in the youngest, to rigidity, which was common in older girls; this permitted classification into three clinical subtypes. The abnormalities were highly suggestive of an extrapyramidal disorder, and this has implications for further research and possible treatment."
Extrapyramidal disorders is a group of movement disorders (involuntary movements, muscle stiffness, and tremors) often caused by certain medications or neurological conditions.
Rett syndrome is a rare genetic disorder that almost exclusively affects girls. Rett syndrome is often misdiagnosed as autism because they share some initial symptoms.
Similarities with Autism:
• behavioral similarities
• brain development and function disorders
• developmental regression
• difficulties with communication, social interaction, and language
development
• repetitive behaviors, such as hand movements
or body rocking
Rett syndrome is almost always caused by a spontaneous, random mutation in the MECP2 gene on the X chromosome, not inherited from parents, and this mutation disrupts brain development starting at 12 to 18 months of age.
Reason for spontaneous mutation and subsequent developmental regression is unknown.
A diagnosis of Rett syndrome is said to be like having autism, epilepsy, cerebral palsy, developmental delay and Parkinson’s disease all in one.
