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Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome - 06/05/22

Doi : 10.1016/j.jpeds.2022.01.009 
Kathleen J. Motil, MD, PhD 1, Suzanne Geerts, BS 2, Fran Annese, BS, MSW 3, Jeffrey L. Neul, MD, PhD 4, Tim Benke, MD, PhD 5, Eric Marsh, MD, PhD 6, David Lieberman, MD 7, Steven A. Skinner, MD 3, Daniel G. Glaze, MD 8, Peter Heydemann, MD 9, Arthur Beisang, MD 10, Shannon Standridge, DO 11, Robin Ryther, MD 12, Jane B. Lane, RN, BSN 13, Lloyd Edwards, PhD 14, Alan K. Percy, MD 13, ⁎
1 Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX 
2 Sparks Clinics/Nutrition, University of Alabama at Birmingham, Birmingham, AL 
3 Genetics Center, Greenwood Genetic Center, Greenwood, SC 
4 Department of Pediatrics/Child Neurology, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 
5 Department of Pediatrics/Child Neurology, University of Colorado-Denver, Denver, CO 
6 Department of Pediatrics/Child Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 
7 Department of Child Neurology, Children's Hospital Boston, Harvard University, Boston, MA 
8 Department of Pediatrics/Child Neurology, Baylor College of Medicine, Houston, TX 
9 Department of Pediatrics/Child Neurology, Rush Medical Center, Chicago, IL 
10 Department of Pediatrics, Gillette Children's Hospital, St. Paul, MN 
11 Department of Pediatrics/Child Neurology, Cincinnati Children's Hospital, Cincinnati, OH 
12 Department of Pediatrics/Child Neurology, Washington University, St. Louis, MO 
13 Department of Pediatrics/Child Neurology, University of Alabama at Birmingham, Birmingham, AL 
14 School of Public Health/Biostatistics, University of Alabama at Birmingham, Birmingham, AL 

∗Reprint requests: Alan K. Percy, MD, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL 35294-0021.University of Alabama at Birmingham1720 2nd Avenue South, CIRC 320EBirminghamAL35294-0021

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.

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Abbreviations : BMI, CSS, DXA, LMS, MBA, MECP2, MLPA, USNHS


Plan


 A publication of the U.S. Department of Agriculture/Agriculture Research Services Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, and the US Rett Syndrome Natural History Study. Funded in part with federal funds from the U.S. Department of Agriculture, Agricultural Research Service (Cooperative Agreement Number 58-3092-5-001) [to K.M.] and with funds from the National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development HD-061222 [to A.P.]. The content of this publication does not necessarily reflect the views or policies of the US Department of Agriculture or the National Institutes of Health, nor does mention of trade names, commercial products, or organizations imply endorsement by these federal agencies. The authors declare no conflicts of interest.


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Vol 244

P. 169 - mai 2022 Retour au numéro
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