Mertz, L. G. B.2; Christensen, R.2; Vogel, I.2; Hertz, Jens M.3; Ostergaard, J. R.2
1 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU2 Aarhus Universitetshospital3 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU
The objectives of the present study were to investigate eating behavior and growth parameters in Angelman syndrome. We included 39 patients with Angelman syndrome. Twelve cases had a larger Class I deletion, eighteen had a smaller Class II deletion, whereas paternal uniparental disomy (pUPD) or a verified UBE3A mutation were present in five and four cases, respectively. Eating behavior was assessed by a questionnaire. Anthropometric measures were obtained from medical records and compared to Danish reference data. Children with pUPD had significantly larger birth weight and birth length than children carrying a deletion or a UBE3A mutation. We found no difference in birth weight or length in children with Class I or Class II deletions. When maternal birth weight and/or birth weight of siblings were taken into consideration, children with Class I deletion had a lower weight at birth than expected, and the weight continued to be reduced during the investigated initial five years of life. In contrast, children with pUPD showed hyperphagic behavior and their weight increased significantly after the age of two years. Accordingly, their body mass index was significantly increased as compared to children with a deletion. At birth, one child showed microcephaly. At five years of age, microcephaly was observed in half of the deletion cases, but in none Of the cases with a UBE3A mutation or pUPD. The apparently normal cranial growth in the UBE3A and pUPD patients should however be regarded as the result of a generally increased growth. Eating behavior, pre- and postnatal growth in children with Angelman syndrome depends on genotype. (C) 2014 Elsevier Ltd. All rights reserved.
Research in Developmental Disabilities, 2014, Vol 35, Issue 11, p. 2681-2690