{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:50:00Z","timestamp":1791103800713,"version":"4.1.0"},"reference-count":45,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,8,1]]},"abstract":"<jats:p>OBJECTIVE. The purpose of this work was to detect brain developmental abnormalities in Prader-Willi syndrome by using diffusion tensor imaging based on a high-field MRI system.<\/jats:p><jats:p>METHODS. Eight patients with Prader-Willi syndrome and 8 age- and gender-matched normal control subjects were examined using a high-field (3.0 T) MRI system. Trace value and fractional anisotropy were assessed simultaneously in multiple representative brain regions: the deep gray matter (putamen, caudate head, and dorsomedial thalamus) and the white matter structures (frontal and parietal white matter, posterior limb of internal capsule, and corpus callosum).<\/jats:p><jats:p>RESULTS. In Prader-Willi syndrome patients, trace value was found to be significantly higher in the left frontal white matter and the left dorsomedial thalamus, whereas fractional anisotropy was significantly reduced in the posterior limb of the internal capsule bilaterally, the right frontal white matter, and the splenium of the corpus callosum. The observed diffusivity characteristics indicate developmental abnormalities in these areas, which are highly consistent with the clinical features of Prader-Willi syndrome.<\/jats:p><jats:p>CONCLUSIONS. The study provides the first objective evidence that Prader-Willi syndrome patients indeed have developmental abnormalities in specific areas of the brain, providing a new window toward understanding the pathophysiology of Prader-Willi syndrome.<\/jats:p>","DOI":"10.1542\/peds.2006-0637","type":"journal-article","created":{"date-parts":[[2006,8,2]],"date-time":"2006-08-02T17:07:56Z","timestamp":1154538476000},"page":"e442-e448","source":"Crossref","is-referenced-by-count":70,"title":["Brain Developmental Abnormalities in Prader-Willi Syndrome Detected by Diffusion Tensor Imaging"],"prefix":"10.1542","volume":"118","author":[{"given":"Kenichi","family":"Yamada","sequence":"first","affiliation":[{"name":"Center for Integrated Human Brain Science, Brain Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Matsuzawa","sequence":"additional","affiliation":[{"name":"Center for Integrated Human Brain Science, Brain Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development, Graduate School of Medical and Dental Sciences, University of Niigata, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid L.","family":"Kwee","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, Davis, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Nakada","sequence":"additional","affiliation":[{"name":"Center for Integrated Human Brain Science, Brain Research Institute"},{"name":"Department of Neurology, University of California, Davis, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,8,1]]},"reference":[{"key":"2021120822372158100_R1","unstructured":"Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptochismus und Oligophrenie nach Myatonieatigem Zustand im Neugeborenenalter. Schweiz Med Wschr.\u20081956;86:1260\u20131261"},{"key":"2021120822372158100_R2","doi-asserted-by":"crossref","unstructured":"Akefeldt A, Gillberg C, Larsson C. Prader-Willi syndrome in a Swedish rural country: epidemiological aspects. Dev Med Child Neurol.\u20081991;33:715\u2013721","DOI":"10.1111\/j.1469-8749.1991.tb14950.x"},{"key":"2021120822372158100_R3","doi-asserted-by":"crossref","unstructured":"Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in 1 UK Health Region. J Med Genet.\u20082001;38:792\u2013798","DOI":"10.1136\/jmg.38.11.792"},{"key":"2021120822372158100_R4","doi-asserted-by":"crossref","unstructured":"Angulo M, Castro-Magana M, Mazur B, et al. Growth hormone secretion and effects or growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab.\u20081996;3:393\u2013399","DOI":"10.1515\/JPEM.1996.9.3.393"},{"key":"2021120822372158100_R5","doi-asserted-by":"crossref","unstructured":"Bray GA et al. The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore).\u20081983;62:59","DOI":"10.1097\/00005792-198303000-00001"},{"key":"2021120822372158100_R6","doi-asserted-by":"crossref","unstructured":"Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Cli in Endocrinol Metab.\u20081995;80:573\u2013579","DOI":"10.1210\/jcem.80.2.7852523"},{"key":"2021120822372158100_R7","doi-asserted-by":"crossref","unstructured":"Curfs LG. Psychological profile and behavioral characteristics in Prader-Willi syndrome. In: Cassidy SB, ed. Prader-Willi Syndrome and Other 15q Deletion Disorders. Berlin, Germany: Springer; 1991:430\u2013434","DOI":"10.1007\/978-3-642-84283-2_24"},{"key":"2021120822372158100_R8","doi-asserted-by":"crossref","unstructured":"Dykens EM, Kasari C. Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome and non-specific mental retardation. Am J Ment Retard.\u20081997;102:228\u2013237","DOI":"10.1352\/0895-8017(1997)102<0228:MBICWP>2.0.CO;2"},{"key":"2021120822372158100_R9","doi-asserted-by":"crossref","unstructured":"Steinhausen HC, Eiholzer U, Hauffa BP, Malin Z. Behavioural and emotional disturbances in people with Prader-Willi Syndrome. J Intellect Disabil Res.\u20082004;48:47\u201352","DOI":"10.1111\/j.1365-2788.2004.00582.x"},{"key":"2021120822372158100_R10","doi-asserted-by":"crossref","unstructured":"Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med.\u20081981;304:325\u2013329","DOI":"10.1056\/NEJM198102053040604"},{"key":"2021120822372158100_R11","doi-asserted-by":"crossref","unstructured":"Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature.\u20081989;342:281\u2013285","DOI":"10.1038\/342281a0"},{"key":"2021120822372158100_R12","doi-asserted-by":"crossref","unstructured":"Stauder JEA, Brinkman M, Curfs L. Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome. Neurosci Lett.\u20082002;327:99\u2013102","DOI":"10.1016\/S0304-3940(02)00377-4"},{"key":"2021120822372158100_R13","doi-asserted-by":"crossref","unstructured":"Civarci C, Vincentini R, Grugni G, Cantello R. Corticospinal physiology in patients with Prader-Willi syndrome: a transcranial magnetic stimulation study. Arch Neurol.\u20082004;61:1585\u20131589","DOI":"10.1001\/archneur.61.10.1585"},{"key":"2021120822372158100_R14","doi-asserted-by":"crossref","unstructured":"Dykens EM, Hodapp RM, Walsh K, Nash LJ. Profiles, correlates and trajectories of intelligence in individuals with Prader-Willi syndrome. J Am Acad Child Adoles Psychiat.\u20081992;31:1125\u20131130","DOI":"10.1097\/00004583-199211000-00022"},{"key":"2021120822372158100_R15","doi-asserted-by":"crossref","unstructured":"Basser PJ, Pierpaoli C. Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. J Magn Reson B.\u20081996;111:209\u2013219","DOI":"10.1006\/jmrb.1996.0086"},{"key":"2021120822372158100_R16","doi-asserted-by":"crossref","unstructured":"Pierpaoli C, Basser PJ. Toward a quantitative assessment of diffusion anisotropy. Magn Reson Med.\u20081997;36:893\u2013906","DOI":"10.1002\/mrm.1910360612"},{"key":"2021120822372158100_R17","unstructured":"Nomura Y, Sakuma H, Takeda K, Tagami T, Okuda Y, Nakagawa T. Diffusional anisotropy of the human brain assessed with diffusion-weighted MR: relation with normal brain development and aging. Am J Neuroradiol.\u20081994;15:231\u2013238"},{"key":"2021120822372158100_R18","doi-asserted-by":"crossref","unstructured":"Mukherjee P, Miller JH, Shimony JS, et al. Normal brain maturation during childhood: Developmental trends characterized with diffusion-tensor MR imaging. Radiology.\u20082001;221:349\u2013358","DOI":"10.1148\/radiol.2212001702"},{"key":"2021120822372158100_R19","doi-asserted-by":"crossref","unstructured":"Schmithorst VJ, Wilke M, Dardzinski BJ, Holland SK. Correlation of white matter diffusivity and anisotropy with age during childhood and adolescence: a cross-sectional diffusion-tensor MR imaging study. Radiology.\u20082002;222:212\u2013218","DOI":"10.1148\/radiol.2221010626"},{"key":"2021120822372158100_R20","doi-asserted-by":"crossref","unstructured":"Hu\u0308ppi PS, Maier SE, Peled S, et al. Microstructural development of human newborn cerebral white matter assessed in vivo by diffusion tensor magnetic resonance imaging. Pediatr Res.\u20081998;44:584\u2013590","DOI":"10.1203\/00006450-199810000-00019"},{"key":"2021120822372158100_R21","doi-asserted-by":"crossref","unstructured":"McKinstry RC, Miller JH, Snyder AZ, et al. A prospective, longitudinal diffusion tensor imaging study of brain injury in newborns. Neurology.\u20082002;59:824\u2013833","DOI":"10.1212\/WNL.59.6.824"},{"key":"2021120822372158100_R22","doi-asserted-by":"crossref","unstructured":"Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology.\u20082001;56:544\u2013547","DOI":"10.1212\/WNL.56.4.544"},{"key":"2021120822372158100_R23","doi-asserted-by":"crossref","unstructured":"Kitamura H, Matsuzawa H, Shioiri T, Someya T, Kwee IL, Nakada T. Diffusion tensor analysis in chronic schizophrenia A preliminary study on a high-field (3.0T) system. Eur Arch Psychiatry Clin Neurosci.\u20082005;255:313\u2013318","DOI":"10.1007\/s00406-005-0564-z"},{"key":"2021120822372158100_R24","doi-asserted-by":"crossref","unstructured":"Barnea-Goraly N, Kwon H, et al. White matter structure inautism: preliminary evidence from diffusion tensor imaging. Biol Psychiatry.\u20082004;55:323\u2013326","DOI":"10.1016\/j.biopsych.2003.10.022"},{"key":"2021120822372158100_R25","doi-asserted-by":"crossref","unstructured":"Barnea-Goraly N, Eliez S, et al. White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging. Am J Med Genet B Neuropsychiatr Genet.\u20082003;118:81\u201388","DOI":"10.1002\/ajmg.b.10035"},{"key":"2021120822372158100_R26","doi-asserted-by":"crossref","unstructured":"Garaci FG, Floris R, Bozzao A, et al. Increased brain apparent diffusion coefficient in tuberous sclerosis. Radiology.\u20082004;232:461\u2013465","DOI":"10.1148\/radiol.2322030198"},{"key":"2021120822372158100_R27","doi-asserted-by":"crossref","unstructured":"Simon TJ, Ding L, Bish JP, McDonald-McGinn DM, Zackai EH, Gee J. Volmetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage.\u20082005;25:169\u2013180","DOI":"10.1016\/j.neuroimage.2004.11.018"},{"key":"2021120822372158100_R28","doi-asserted-by":"crossref","unstructured":"Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics.\u20081993;91:398\u2013402","DOI":"10.1542\/peds.91.2.398"},{"key":"2021120822372158100_R29","unstructured":"Itani T, Kanbayashi Y, Nakata Y, et al. Standardization of the Japanese version of the Child Behavior Checklist\/4\u201318. Jpn J Pediatr Psychiatr Neurol.\u20082001;41:243\u2013252"},{"key":"2021120822372158100_R30","doi-asserted-by":"crossref","unstructured":"Nakada T, Matsuzawa H. Three-dimensional anisotropy contrast magnetic resonance imaging of the rat nervous system: MR axonography. Neurosci Res.\u20081995;22:389\u2013398","DOI":"10.1016\/0168-0102(95)00917-I"},{"key":"2021120822372158100_R31","doi-asserted-by":"crossref","unstructured":"Nakada T, Nakayama N, Fujii Y, Kwee IL. Clinical application of 3-dimensional anisotropy contrast magnetic resonance axonography: technical note. J Neurosurg.\u20081999;90:791\u2013795","DOI":"10.3171\/jns.1999.90.4.0791"},{"key":"2021120822372158100_R32","unstructured":"Clark DL, Boutros NN. The Brain and Behavior: An Introduction to Behavioral Neuroanatomy. Malden, MA: Blackwell Science; 1999:119\u2013129"},{"key":"2021120822372158100_R33","doi-asserted-by":"crossref","unstructured":"Fukutake T, Akada K, Ito S, Okuda T, Ueki Y. Severe personality changes after unilateral left paramedian thalamic infarct. Eur Neurol.\u20082002;47:156\u2013160","DOI":"10.1159\/000047974"},{"key":"2021120822372158100_R34","doi-asserted-by":"crossref","unstructured":"Haznedar MM, Roversi F, Pallanti S, et al. Fronto-thalamo-striatal gray and white matter volumes and anisotropy of their connections in bipolar spectrum illnesses. Biol Psychiatry.\u20082005;57:733\u2013742","DOI":"10.1016\/j.biopsych.2005.01.002"},{"key":"2021120822372158100_R35","doi-asserted-by":"crossref","unstructured":"Argov Z, Gardner-Medwin D, Johnson MA, Mastaglia FL. Patterns of muscle fiber-type disproportion in hypotonic infants. Arch Neurol.\u20081984;41:53\u201357","DOI":"10.1001\/archneur.1984.04050130059023"},{"key":"2021120822372158100_R36","doi-asserted-by":"crossref","unstructured":"Graham JM, Papadakis N, Evans J, et al. Diffusion tensor imaging for the assessment of upper motor neuron integrity in ALS. Neurology.\u20082004;63:2111\u20132119","DOI":"10.1212\/01.WNL.0000145766.03057.E7"},{"key":"2021120822372158100_R37","doi-asserted-by":"crossref","unstructured":"Sach M, Winkler G, Glauche V, et al. Diffusion tensor MRI of early upper motor neuron involvement in amyotrophic lateral sclerosis. Brain\u20082004;127:340\u2013350.","DOI":"10.1093\/brain\/awh041"},{"key":"2021120822372158100_R38","unstructured":"Pandya D. Two Hemispheres-One Brain. New York, NY: Allan Liss; 1986"},{"key":"2021120822372158100_R39","doi-asserted-by":"crossref","unstructured":"Piven J, Bailey AS, Randon BJ, Arndt S. An MRI study of the corpus callosum in autism. Am J Psychiatry.\u20081997;154:1051\u20131056","DOI":"10.1176\/ajp.154.8.1051"},{"key":"2021120822372158100_R40","doi-asserted-by":"crossref","unstructured":"Chung MK, Dalton KM, Alexander AL, Davidson RJ. Less white matter concentration in autism: 2D voxel-based morphometry. Neuroimage.\u20082004;23:242\u2013251","DOI":"10.1016\/j.neuroimage.2004.04.037"},{"key":"2021120822372158100_R41","doi-asserted-by":"crossref","unstructured":"Schulte T, Sullivan EV, Mu\u0308ller-Ochring EM, Adalsteinsson E, Pfefferbaum A. Corpus callosal microstructural integrity influences interhemispheric processing: a diffusion tensor imaging study. Cereb Cortex\u20082005;15:1384\u20131392","DOI":"10.1093\/cercor\/bhi020"},{"key":"2021120822372158100_R42","doi-asserted-by":"crossref","unstructured":"Suzuki Y, Matsuzawa H, Nakada T. Feasibility study of single region lambda chart analysis for pyramidal tract physiology. J Neurol.\u20082003;250:1185\u20131189","DOI":"10.1007\/s00415-003-0175-4"},{"key":"2021120822372158100_R43","doi-asserted-by":"crossref","unstructured":"Suzuki Y, Matsuzawa H, Kwee IL, Nakada T. Absolute eigenvalue diffusion tensor analysis for human brain maturation. NMR Biomed.\u20082003;16:257\u2013260","DOI":"10.1002\/nbm.848"},{"key":"2021120822372158100_R44","doi-asserted-by":"crossref","unstructured":"Baratti C, Barnett AS, Pierpaoli C. Comparative MR imaging study of brain maturation in kittens with T1, T2, and the trace of the diffusion tensor. Radiology.\u20081999;210:133\u2013142","DOI":"10.1148\/radiology.210.1.r99ja09133"},{"key":"2021120822372158100_R45","doi-asserted-by":"crossref","unstructured":"Tower DB, Bourke RS. Fluid conpartmentation and electrolytes of cat cerebral cortex in vitro. III. Ontogenetic and comparative aspects. J Neurochem.\u20081996;13:1119\u20131137","DOI":"10.1111\/j.1471-4159.1966.tb04269.x"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/2\/e442\/1073892\/zpe0080600e442.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/2\/e442\/1073892\/zpe0080600e442.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,8]],"date-time":"2023-05-08T11:17:45Z","timestamp":1683544665000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/118\/2\/e442\/68926\/Brain-Developmental-Abnormalities-in-Prader-Willi"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,1]]},"references-count":45,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2006,8,1]]},"published-print":{"date-parts":[[2006,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2006-0637","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,1]]}}}