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9. The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways

Author

Castillo, Joseph J., primary, Jelinek, David, additional, Wei, Hao, additional, Gannon, Nicholas P., additional, Vaughan, Roger A., additional, Horwood, L. John, additional, Meaney, F. John, additional, Garcia-Smith, Randi, additional, Trujillo, Kristina A., additional, Heidenreich, Randall A., additional, Meyre, David, additional, Orlando, Robert A., additional, LeBoeuf, Renee C., additional, and Garver, William S., additional

Published
2017
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17. Standards for Selected Anthropometric Measurements in Prader-Willi Syndrome

Author

Butler, Merlin G. and Meaney, F. John

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Anthropometry, Body Weight, nutritional and metabolic diseases, Infant, Article, Body Height, nervous system diseases, Reference Values, Child, Preschool, Humans, Female, Child, Prader-Willi Syndrome
Abstract

We report standards (95th, 50th, and 5th centiles) in Prader-Willi syndrome for weight, height, sitting height, head circumference, head length, head breadth, hand length, middle finger length, palm length, hand breadth, foot length, foot breadth, triceps skinfold, and subscapular skinfold. For comparison with Prader-Willi syndrome standardized curves, normal control data from the literature were plotted similarly and standard curves were produced. We encourage the use of these standards with the examination of patients who have Prader-Willi syndrome and in the comparison of the patient who has Prader-Willi syndrome with other similarly affected individuals. The standards may also be useful for assisting in the diagnosis of Prader-Willi syndrome, particularly in younger individuals.

Published
1991

18. INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES

Author

Butler, Merlin G., Haynes, Judy L., and Meaney, F. John

Subjects
nutritional and metabolic diseases, Article
Abstract

To determine the effects of familial background on anthropometric dimensions in Prader-Willi syndrome (PWS), we measured weight; height; sitting height; longitude and breadth of the head, hands, and feet; head, arm, and calf circumferences; and triceps and subscapular skinfolds in 28 individuals with the syndrome and their natural parents. Midparental-child correlations were significant for height and foot length, with heritability estimates of 0.52 and 0.68, respectively. Significant mother-child correlations were found for weight, height, foot length, and minimal frontal diameter for the total group; in addition, hand length and breadth, and calf and arm circumferences were significant for the patients age 12.5 years or under. These data provide evidence for maternal effects on several physical characteristics in PWS, particularly in younger patients.

Published
1990

25. Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010.

Author

Fox DJ, Pettygrove S, Cunniff C, O'Leary LA, Gilboa SM, Bertrand J, Druschel CM, Breen A, Robinson L, Ortiz L, Frías JL, Ruttenber M, Klumb D, and Meaney FJ

Subjects
Arizona epidemiology, Child, Colorado epidemiology, Female, Humans, Male, New York epidemiology, Prevalence, Fetal Alcohol Spectrum Disorders epidemiology, Population Surveillance
Abstract

Fetal alcohol syndrome (FAS) is a serious birth defect and developmental disorder caused by in utero exposure to alcohol. Assessment of the public health burden of FAS through surveillance has proven difficult; there is wide variation in reported prevalence depending on the study population and surveillance method. Generally, records-based birth prevalence studies report estimates of 0.2-1.5 per 1,000 live births, whereas studies that use in-person, expert assessment of school-aged children in a community report estimates of 6-9 per 1,000 population. The Fetal Alcohol Syndrome Surveillance Network II addressed some of the challenges in records-based ascertainment by assessing a period prevalence of FAS among children aged 7‒9 years in Arizona, Colorado, and New York. The prevalence across sites ranged from 0.3 to 0.8 per 1,000 children. Prevalence of FAS was highest among American Indian/Alaska Native children and lowest among Hispanic children. These estimates continue to be much lower than those obtained from studies using in-person, expert assessment. Factors that might contribute to this discrepancy include 1) inadequate recognition of the physical and behavioral characteristics of FAS by clinical care providers; 2) insufficient documentation of those characteristics in the medical record; and 3) failure to consider prenatal alcohol exposure with diagnoses of behavioral and learning problems. Addressing these factors through training of medical and allied health providers can lead to practice changes, ultimately increasing recognition and documentation of the characteristics of FAS.

Published
2015

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