title: Eating behavior, prenatal and postnatal growth in Angelman syndrome.
abstract: 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.
authors: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark. Electronic address: linebiemertz@dadlnet.dk.
authors: Line G B
authors: LG
authors: Mertz
authors: Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
authors: Rikke
authors: R
authors: Christensen
authors: Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
authors: Ida
authors: I
authors: Vogel
authors: Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
authors: Jens M
authors: JM
authors: Hertz
authors: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors: John R
authors: JR
authors: Østergaard
mesh_terms: D000293:Adolescent; D017204:Angelman Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D001724:Birth Weight / Q000235:genetics*; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005247:Feeding Behavior; D005260:Female; D005838:Genotype; D006801:Humans; D006963:Hyperphagia / Q000209:etiology / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000209:etiology / Q000235:genetics*; D009765:Obesity / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases
keywords: 15q11.2-q13; Angelman syndrome; Eating behavior; Genotype–phenotype; Head circumference; Obesity; Postnatal growth; Prenatal growth