Eating behavior,prenatal and postnatal growth in Angelman syndrome |
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| Institution: | 1. Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark;2. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark;3. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark;1. Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Campus Heymans, Ghent University Hospital, 2B3, De Pintelaan 185, B-9000 Ghent, Belgium;2. Centre of Human Genetics, University Hospitals Leuven, & Department of Human Genetics, KU Leuven, Campus Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium;3. Department of Movement and Sports Sciences, Ghent University, Watersportlaan 2, B-9000 Ghent, Belgium;4. Department of Experimental Psychology, Ghent University, Henri Dunantlaan 2, B-9000 Ghent, Belgium;5. Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium;1. Department of Physical Medicine and Rehabilitation, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chia-Yi, Taiwan;2. Department of Senior Citizen Service Management, Chia Nan University of Pharmacy & Science, Tainan, Taiwan;3. Department of Business Administration and Language Education Center, Chang Jung Christian University, Tainan, Taiwan;4. Department of Otolaryngology, National Cheng Kung University Hospital, Tainan, Taiwan;5. Department of Occupational and Environmental Medicine, National Cheng Kung University Hospital, Tainan, Taiwan;6. Department of Environmental and Occupational Health, National Cheng Kung University, Tainan, Taiwan;1. Department of Health Sciences, Autonomous University of Ciudad Juarez, Anillo Envolvente del PRONAF y Estocolmo s/n, Ciudad Juárez 32310, Chihuahua, Mexico;2. School of Sciences of Physical Culture, Autonomous University of Chihuahua, Ciudad Juárez, Chihuahua, Mexico;3. Biomedicine Unit, School of Higher Studies Iztacala, National Autonomous University of México, Tlalnepantla, Mexico;1. Department of Toxicology and Pharmacology, School of Pharmacy, Hamadan University of Medical Sciences, Hamadan, Iran;2. Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;3. Faculty of Rehabilitation Sciences, Hamadan University of Medical Sciences & Health Services, Hamadan, Iran;1. Department of Physical Therapy, Neuropediatrics Section, Federal University of São Carlos (UFSCar), Rod Washington Luis, km 235, 13565-905 São Carlos, SP, Brazil;2. Physical Therapy, Center of Biological and Health Sciences, Federal University of Mato Grosso do Sul (UFMS), Postal Box 549, 79070900 Campo Grande, MS, Brazil;1. Department of Special Education and Counselling, The Hong Kong Institute of Education, Hong Kong;2. Department of Psychology, The University of Hong Kong, Hong Kong |
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| 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. |
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| Keywords: | Angelman syndrome 15q11 2-q13 Eating behavior Genotype–phenotype Head circumference Obesity Prenatal growth Postnatal growth |
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