Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities

• Published in: Genes Vol. 10; no. 11; p. 898
• Main Authors: Kimonis, Virginia E., Tamura, Roy, Gold, June-Anne, Patel, Nidhi, Surampalli, Abhilasha, Manazir, Javeria, Miller, Jennifer L., Roof, Elizabeth, Dykens, Elisabeth, Butler, Merlin G., Driscoll, Daniel J.
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 06.11.2019; MDPI
• Subjects: Age; Age Factors; Appetite; biomedical research; Body composition; Child; Child, Preschool; Children; Chromosome 15; Chromosomes; Chromosomes, Human, Pair 15 - genetics; Comorbidity; Datasets; Diagnosis; DNA methylation; Early Diagnosis; Female; Gender; gene expression; Genetic disorders; Genomic imprinting; Genomic Imprinting - genetics; Genotype & phenotype; Growth hormones; health care workers; Hormone Replacement Therapy; Human Growth Hormone - genetics; Humans; Infant; Male; Medical screening; Minority & ethnic groups; nationalities and ethnic groups; Natural history; Obesity; Obesity - genetics; Obesity - prevention & control; Prader-Willi syndrome; Prader-Willi Syndrome - complications; Prader-Willi Syndrome - diagnosis; Primary care; Rare diseases; Rare Diseases - genetics; risk; somatotropin; Variables; age diagnosis; Prader–Willi syndrome; deletion; obesity; uniparental disomy

Prader–Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11–q13 region. Growth hormone (GH) replacement positively influences stature and body composition in PWS. Our hypothesis was that early diagnosis delays onset of o...