Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome

Authors

Kathleen J Motil
Suzanne Geerts
Fran Annese
Jeffrey L Neul
Tim Benke
Eric Marsh
David Lieberman
Steven A Skinner
Daniel G Glaze
Peter Heydemann
Arthur Beisang
Shannon Standridge
Robin Ryther
Jane B Lane
Lloyd Edwards
Alan K Percy

Publication Date

5-1-2022

Journal

The Journal of Pediatrics

DOI

10.1016/j.jpeds.2022.01.009

PMID

35063470

PMCID

PMC9086122

PubMedCentral® Posted Date

5-1-2023

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Anthropometry, Female, Humans, Methyl-CpG-Binding Protein 2, Rett Syndrome, Walking

Abstract

Objective: To characterize growth and anthropometric measurements in females with Rett syndrome and compare these measurements with functional outcomes.

Study design: We obtained longitudinal growth and anthropometric measurements from 1154 females with classic and atypical Rett syndrome seen between 2006 and 2019 in the US Natural History Study. We calculated the Clinical Severity Score, Motor Behavior Assessment score, and arm and leg muscle areas and recorded the functional assessments of arm and hand use and ambulation. We compared growth and anthropometric variables from females with Rett syndrome in regard to normative data. We analyzed Clinical Severity Score, Motor Behavior Assessment, and anthropometric measurements in regard to functional assessments.

Results: Growth and anthropometric measurements were significantly lower in females with classic and severe atypical Rett syndrome compared with those classified as mild atypical Rett syndrome and deviated from normative patterns among all 3 groups. Suprailiac skinfold measurements correlated with body mass index measurements in each group. Lower leg muscle area measurements were significantly greater among females in all 3 Rett syndrome groups who ambulated independently compared with those who did not. In females with classic Rett syndrome, arm, thigh, and lower leg muscle area measurements increased significantly over time and were significantly greater among those who had purposeful arm and hand use and independent ambulation compared with those who did not.

Conclusions: The pattern of growth and anthropometric measures in females with Rett syndrome differs from normative data and demonstrates clear differences between classic and mild or severe atypical Rett syndrome. Anthropometric measures correspond with functional outcomes and could provide markers supporting efficacy outcomes in clinical trials.