Kathleen J Motil1, Suzanne Geerts2, Fran Annese3, Jeffrey L Neul4, Tim Benke5, Eric Marsh6, David Lieberman7, Steven A Skinner3, Daniel G Glaze8, Peter Heydemann9, Arthur Beisang10, Shannon Standridge11, Robin Ryther12, Jane B Lane13, Lloyd Edwards14, Alan K Percy15. 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. 15. Department of Pediatrics/Child Neurology, University of Alabama at Birmingham, Birmingham, AL. Electronic address: apercy@uab.edu.
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.
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.
Authors: Jacquelyn A Hatch-Stein; Babette S Zemel; Divya Prasad; Heidi J Kalkwarf; Mary Pipan; Sheela N Magge; Andrea Kelly Journal: Pediatrics Date: 2016-09-14 Impact factor: 7.124
Authors: J L Neul; P Fang; J Barrish; J Lane; E B Caeg; E O Smith; H Zoghbi; A Percy; D G Glaze Journal: Neurology Date: 2008-03-12 Impact factor: 9.910
Authors: Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy Journal: Ann Neurol Date: 2010-12 Impact factor: 10.422