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Head growth in Rett syndrome
G Hagberg1, Y Stenbom, I W Engerström
1Department of Pediatrics, The Queen Silvia Children's Hospital, Göteborg University, S-41685, Goteborg, Sweden.
Brain & Development
|December 12, 2001
Summary
Head growth in Rett syndrome (RS) girls shows significant deceleration, falling below normal ranges. This head growth decline is less pronounced in forme fruste variants and may not be a reliable diagnostic criterion.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Rett syndrome (RS) is a neurodevelopmental disorder.
- Head growth patterns are crucial indicators in pediatric development.
Purpose of the Study:
- To investigate the longitudinal head growth patterns in girls with classic and forme fruste variants of Rett syndrome.
- To evaluate the diagnostic utility of head growth deceleration in RS.
Main Methods:
- Longitudinal study design.
- Analysis of head circumference standard deviation (SD) scores over time.
- Comparison between classic RS and forme fruste variants.
Main Results:
- Classic RS girls showed progressive head circumference deceleration, reaching -2 SD by age 4 and stabilizing near -3 SD after age 8.
- Forme fruste variants had mean head circumference within normal limits but significantly below (-0.8 SD).
- Head growth deceleration was minimal in forme fruste variants and present in only 20% of classic RS girls by age 6.
Conclusions:
- Head growth decline is a significant feature in classic Rett syndrome but can be minimal.
- Head growth decline is often absent or very small in forme fruste variants.
- Head growth patterns alone may not be a sufficient diagnostic criterion for either classic or forme fruste Rett syndrome.