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10.1016/j.pediatrneurol.2014.08.013

http://scihub22266oqcxt.onion/10.1016/j.pediatrneurol.2014.08.013
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C4254166!4254166!25283752
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suck abstract from ncbi


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pmid25283752      Pediatr+Neurol 2014 ; 51 (6): 769-75
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  • Pubertal Development in Rett Syndrome Deviates from Typical Females #MMPMID25283752
  • Killian JT; Lane JB; Cutter GR; Skinner SA; Kaufmann WE; Tarquinio DC; Glaze DG; Motil KJ; Neul JL; Percy AK
  • Pediatr Neurol 2014[Dec]; 51 (6): 769-75 PMID25283752show ga
  • Background: Rett syndrome is a unique neurodevelopmental disorder, affecting approximately 1 in 10,000 live female births, most experiencing reduced growth. We characterized pubertal trajectories in females with Rett syndrome. We hypothesized that pubertal trajectory deviates from the general female population with early pubertal onset and delayed menarche. Methods: Participants were individuals enrolled in the Rett Syndrome Natural History Study with clinical diagnosis of Rett syndrome or mutations in MECP2. Intervals to thelarche, adrenarche, and menarche were assessed by survival analysis; BMI, mutation type, clinical severity, and pubertal milestone relationships were assessed by log-likelihood test; pathway synchrony (relationship between thelarche, adrenarche, and menarche) was assessed by Chi-squared analysis. Results: Compared to the general female population, over 25% initiated puberty early, yet entered menarche later (median age 13.0 years). 19% experienced delayed menarche. Median length of puberty, from thelarche to menarche, was 3.9 years. Higher BMI correlated with earlier thelarche and adrenarche but not menarche; milder mutations correlated with earlier menarche; and milder clinical presentation correlated with earlier thelarche and menarche. Fifty-two percent entered puberty in synchrony, but differing from general population, 15% led with thelarche, and 32% with adrenarche. Conclusions: Pubertal trajectories in Rett syndrome differ from general population, entering puberty early and reaching menarche later. BMI affects pubertal timing, but the relationship between specific mutations, clinical presentation, and underlying neuroendocrine pathology is less clear.
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