title: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.
abstract: BACKGROUND
  Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking.
  
  
  METHODS
  In 43 patients with SMA type I-III (8 type I; 22 type II; 13 type III), aged 0.6-21.8 years, auxological parameters, pubertal stage, motor function (Motor Function Measurement 32 -MFM32) as well as levels of leptin, insulin glucose, hemoglobin A1c, Homeostasis Model Assessment index and an urinary steroid profile were determined.
  
  
  RESULTS
  Hyperleptinemia was found in 15/35 (43%) of our patients; 9/15 (60%) of the hyperleptinemic patients were underweight, whereas 1/15 (7%) was obese. Hyperleptinemia was associated with SMA type (p = 0.018). There was a significant association with decreased motor function (MFM32 total score in hyperleptinemia 28.5%, in normoleptinemia 54.7% p = 0.008, OR 0.969; 95%-CI: 0.946-0.992). In addition, a higher occurrence of hirsutism, premature pubarche and a higher variability of the urinary steroid pattern were found.
  
  
  CONCLUSIONS
  Hyperleptinemia is highly prevalent in underweight children with SMA and is associated with disease severity and decreased motor function. Neuronal degradation of hypothalamic cells or an increase in fat content by muscle remodeling could be the cause of hyperleptinemia.
authors.affiliation: Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Kölbel
authors.affiliation: Department of Pediatric Endocrinology, Children's Hospital 2, University of Duisburg-Essen, Essen, Germany.
authors.forename: Berthold P
authors.initials: BP
authors.lastname: Hauffa
authors.affiliation: Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: Stefan A
authors.initials: SA
authors.lastname: Wudy
authors.affiliation: Department of Pediatric Pulmonology, Children's Hospital 3, University of Duisburg-Essen, Essen, Germany.
authors.forename: Anastasios
authors.initials: A
authors.lastname: Bouikidis
authors.affiliation: Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
authors.forename: Adela
authors.initials: A
authors.lastname: Della Marina
authors.affiliation: Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schara
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004734:Energy Metabolism; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D020738:Leptin / Q000378:metabolism*; D008297:Male; D008659:Metabolic Diseases / Q000209:etiology* / Q000378:metabolism; D009043:Motor Activity; D011446:Prospective Studies; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: D020738:Leptin