Sandra W Jacobson1,2,3, H Eugene Hoyme4,5, R Colin Carter6, Neil C Dodge1, Christopher D Molteno3, Ernesta M Meintjes2,7, Joseph L Jacobson1,2,3. 1. Department of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan, USA. 2. Department of Human Biology, University of Cape Town, Faculty of Health Sciences, Cape Town, South Africa. 3. Department of Psychiatry and Mental Health, University of Cape Town, Faculty of Health Sciences, Cape Town, South Africa. 4. Sanford Children's Genomic Medicine Consortium, Sanford Health, Sioux Falls, SD, USA. 5. Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona, USA. 6. Departments of Emergency Medicine and Pediatrics, Institute of Human Nutrition, Columbia University Irving Medical Center, New York, New York, USA. 7. MRC/UCT Medical Imaging Research Unit, University of Cape Town, Division of Biomedical Engineering, Faculty of Health Sciences, Cape Town, South Africa.
Abstract
BACKGROUND: This paper reports findings from the first longitudinal study on the evolution of the physical phenotypes of fetal alcohol syndrome (FAS) and partial FAS (PFAS) from early childhood through adolescence. METHODS: The sample consisted of 155 children (78 males, 77 females) born to women recruited at an antenatal clinic serving a Cape Coloured (mixed ancestry) population in Cape Town, South Africa. Two expert FASD dysmorphologists, blind regarding prenatal alcohol exposure, independently evaluated each child's growth and dysmorphology at four clinics conducted over an 11-year period. Case conferences were held to reach consensus regarding which children had FAS or PFAS growth and physical features using the Revised Institute of Medicine (2005) guidelines. RESULTS: Prevalence of the physical phenotype was stable across the four ages for about half of the children with FAS and about one-third of those with PFAS but more variable for the others. Test-retest reliability was substantial for the FAS phenotype, but poorer for PFAS. Two distinct patterns were seen: a "strong phenotype" that was consistently identified and a less consistent one in which dysmorphic features and/or anthropometric deficits fluctuated or diminished with age. The physical phenotype was most apparent during early childhood and least apparent during puberty, due to differences in timing of the growth spurt and the evolving adult face. Short palpebral features and small head circumference diminished with age, flat philtrum fluctuated, while thin vermilion and weight and height restriction were stable. CONCLUSIONS: Key facial features that characterize FASD in early childhood diminish or evolve in some individuals, making diagnostic examinations that rely on these characteristics most sensitive during early childhood and school age. Moreover, puberty poses classification problems due to variability in timing of the growth spurt. Given that several features and small head circumference diminished with age, many individuals would be misdiagnosed if only examined at a later age. This article is protected by copyright. All rights reserved.
BACKGROUND: This paper reports findings from the first longitudinal study on the evolution of the physical phenotypes of fetal alcohol syndrome (FAS) and partial FAS (PFAS) from early childhood through adolescence. METHODS: The sample consisted of 155 children (78 males, 77 females) born to women recruited at an antenatal clinic serving a Cape Coloured (mixed ancestry) population in Cape Town, South Africa. Two expert FASD dysmorphologists, blind regarding prenatal alcohol exposure, independently evaluated each child's growth and dysmorphology at four clinics conducted over an 11-year period. Case conferences were held to reach consensus regarding which children had FAS or PFAS growth and physical features using the Revised Institute of Medicine (2005) guidelines. RESULTS: Prevalence of the physical phenotype was stable across the four ages for about half of the children with FAS and about one-third of those with PFAS but more variable for the others. Test-retest reliability was substantial for the FAS phenotype, but poorer for PFAS. Two distinct patterns were seen: a "strong phenotype" that was consistently identified and a less consistent one in which dysmorphic features and/or anthropometric deficits fluctuated or diminished with age. The physical phenotype was most apparent during early childhood and least apparent during puberty, due to differences in timing of the growth spurt and the evolving adult face. Short palpebral features and small head circumference diminished with age, flat philtrum fluctuated, while thin vermilion and weight and height restriction were stable. CONCLUSIONS: Key facial features that characterize FASD in early childhood diminish or evolve in some individuals, making diagnostic examinations that rely on these characteristics most sensitive during early childhood and school age. Moreover, puberty poses classification problems due to variability in timing of the growth spurt. Given that several features and small head circumference diminished with age, many individuals would be misdiagnosed if only examined at a later age. This article is protected by copyright. All rights reserved.
Entities:
Keywords:
dysmorphic features; fetal alcohol spectrum disorders; fetal alcohol syndrome; physical phenotype; prenatal alcohol exposure; stability and prevalence of FASD
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