Cited by 1,278Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Open access

Holm, Vanja A., Cassidy, Suzanne B., Butler, Merlin G., Hanchett, Jeanne M., Greenswag, Louise R., Whitman, Barbara Y., Greenberg, Frank·1993·Pediatrics

DOI 10.1542/peds.91.2.398PMC PMC6714046

Open this paper in CoChat — free account

Abstract

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.

Integrity signals

Registry

Crossref · 10.1542/peds.91.2.398

Cites

31 of 31 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., & Lalande, M. (1989) · Nature · doi:10.1038/342281a0 · Cited by 878
Self-citation
Standards for Children's Height at Ages 2-9 Years Allowing for Height of Parents
Tanner, J. M., Goldstein, H., & Whitehouse, R. H. (1970) · Archives of Disease in Childhood · doi:10.1136/adc.45.244.755 · Cited by 828
Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome
Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981) · New England Journal of Medicine · doi:10.1056/nejm198102053040604 · Cited by 622
NCHS growth curves for children birth-18 years. United States.
Hamill, P. V. V., Drizd, T. A., Johnson, C. L., Reed, R. B., & Roche, A. F. (1977) · PubMed · Cited by 582
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Butler, M. G. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350306 · Cited by 581
Self-citation
Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham, J. M., Lalande, M., Latt, S. A., Opitz, J. M., & Reynolds, J. F. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320320235 · Cited by 576
Prader-Willi syndrome.
Cassidy, S. B. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.11.917 · Cited by 472
Self-citation
Diagnostic criteria for rett syndrome
The Rett Syndrome Diagnostic Criteria Work Group (1988) · Annals of Neurology · doi:10.1002/ana.410230432 · Cited by 404
Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome
Butler, M. G., Meaney, F. J., Palmer, C. G., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230307 · Cited by 316
Self-citation
ADULTS WITH PRADER‐WILLI SYNDROME: A SURVEY OF 232 CASES
Greenswag, L. R. (1987) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1987.tb02129.x · Cited by 259
Self-citation

Show all 31 references

Sorted by citations

Items 601–700 of 1,000

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature
Pellikaan, K., van Woerden, G. M., Kleinendorst, L., Rosenberg, A. G. W., Horsthemke, B., Grosser, C., van Zutven, L. J. C. M., van Rossum, E. F. C., van der Lely, A. J., Resnick, J. L., et al. (2021) · Genes · doi:10.3390/genes12060875 · Cited by 19
Analysis of the hypothalamic oxytocin system and oxytocin receptor‐expressing astrocytes in a mouse model of Prader–Willi syndrome
Althammer, F., Wimmer, M. C., Krabichler, Q., Küppers, S., Schimmer, J., Fröhlich, H., Dötsch, L., Gruber, T., Wunsch, S., Schubert, T. S., et al. (2022) · Journal of Neuroendocrinology · doi:10.1111/jne.13217 · Cited by 21
Pleiotropic Genetic Syndromes with Developmental Abnormalities Associated with Obesity
Κousta, E., Hadjiathanasiou†, C. G., Tolis, G., & Παπαθανασίου, Α. (2009) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2009.22.7.581 · Cited by 19
Distal Arthrogryposis and Neonatal Hypotonia: an Unusual Presentation of Prader–Willi Syndrome (PWS)
Denizot, S., Boscher, C., Vaillant, C. L., Rozé, J., & Guen, C. G. (2004) · Journal of Perinatology · doi:10.1038/sj.jp.7211185 · Cited by 19
Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review
Hartin, S. N., Hossain, W. A., Weisensel, N., & Butler, M. G. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38627 · Cited by 19
Self-citation
Relationship between phenotype and genotype of 102 Chinese newborns with Prader–Willi syndrome
Ge, M., Gao, Y., Wu, B., Yan, K., Qin, Q., Wang, H., Zhou, W., & Yang, L. (2019) · Molecular Biology Reports · doi:10.1007/s11033-019-04916-2 · Cited by 19
Three years of growth hormone treatment in young adults with Prader‐Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome
Damen, L., Grootjen, L. N., Donze, S., Juriaans, A. F., de Graaff, L. C. G., van der Velden, J. A. E. M., & Hokken‐Koelega, A. C. S. (2020) · Clinical Endocrinology · doi:10.1111/cen.14274 · Cited by 19
Behavioural and cognitive profiles of mouse models for Prader–Willi syndrome
Relkovic, D., & Isles, A. R. (2011) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2011.09.009 · Cited by 21
Increased Exposure to Rigid Routines can Lead to Increased Challenging Behavior Following Changes to Those Routines
Bull, L., Oliver, C., Callaghan, E., & Woodcock, K. A. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2308-2 · Cited by 21
Successful risperidone treatment for behavioral disturbances in Prader–Willi syndrome
Araki, S., Ohji, T., Shiota, N., Dobashi, K., Shimono, M., & Shirahata, A. (2010) · Pediatrics International · doi:10.1111/j.1442-200x.2009.02996.x · Cited by 19
Cerebral Palsy due to Chromosomal Anomalies and Continuous Gene Syndromes
Menkes, J. H., & Flores‐Sarnat, L. (2006) · Clinics in Perinatology · doi:10.1016/j.clp.2006.03.001 · Cited by 19
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
Poyatos, D., Guitart, M., Gabau, E., Gasca, C. B. I., Mila, M., Vaquerizo, J., & Coll, M. D. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.2.e4 · Cited by 19
Body fat excess and stimulated growth hormone levels in adult patients with Prader–Willi syndrome
Grugni, G., Crinò, A., Bertocco, P., & Marzullo, P. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32713 · Cited by 19
Excessive Picking in Prader-Willi Syndrome: A pilot study of phenomenological aspects and comorbid symptoms
Wigren, M., & Heimann, M. (2001) · International Journal of Disability Development and Education · doi:10.1080/10349120120053621 · Cited by 19
Sensory impairment in mental retardation: a potential role for NGF.
Battaglia, A. A. (2011) · PubMed · doi:10.4449/aib.v149i2.1362 · Cited by 19
Evaluation of two X chromosomal candidate genes for Rett syndrome: Glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1)
Wan, M., & Francke, U. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980630)78:2 · Cited by 19
Saliva in Prader–Willi syndrome: Quantitative and qualitative characteristics
Sæves, R., Reseland, J. E., Kvam, B.-M., Sandvik, L., & Nordgarden, H. (2012) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2012.05.003 · Cited by 18
Effects of Adiposity and Prader-Willi Syndrome on Postexercise Heart Rate Recovery
Castner, D. M., Rubin, D. A., Judelson, D. A., & Haqq, A. M. (2013) · Journal of Obesity · doi:10.1155/2013/384167 · Cited by 18
Nocturnal Sleep Measured by Actigraphy in Children with Prader-Willi Syndrome
Gibbs, S., Wiltshire, E. J., & Elder, D. E. (2012) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2012.09.019 · Cited by 18
Prader–Willi syndrome in neonates: twenty cases and review of the literature in Southern China
Wang, P., Zhou, W., Yuan, W., Huang, L., Zhao, N. O., & Chen, X. (2016) · BMC Pediatrics · doi:10.1186/s12887-016-0662-2 · Cited by 18
A Review: Mealtime Difficulties following Frontotemporal Lobar Degeneration
Lewis, C. C., Walterfang, M., Velakoulis, D., & Vogel, A. P. (2018) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000494210 · Cited by 18
Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families
Mackay, J., McCallum, Z., Ambler, G. R., Vora, K., Nixon, G. M., Bergman, P. B., Shields, N., Milner, K. M., Kapur, N., Crock, P., et al. (2019) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.14546 · Cited by 18
Developing an understanding of skin picking in people with Prader-Willi syndrome: A structured literature review and re-analysis of existing data
Whittington, J. E., & Holland, A. J. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.01.029 · Cited by 19
Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
Yamada, K., Watanabe, M., Suzuki, K., & Suzuki, Y. (2020) · The Cerebellum · doi:10.1007/s12311-020-01163-1 · Cited by 18
High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
Crinò, A., Armando, M., Crostelli, M., Mazza, O., Bruzzese, D., Convertino, A., Fintini, D., Bocchini, S., Ciccone, S., Sartório, A., et al. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11061574 · Cited by 18
Interdisciplinary Behavioral Intervention for Life-Threatening Obesity in an Adolescent with Prader-Willi Syndrome - A Case Report
Vona-Messersmith, N., Slifer, K. J., Pulbrook, V., & Bellipanni, K. D. (2008) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e31815f24bd · Cited by 18
Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects
Verrotti, A., Soldani, C., Laino, D., D’Alonzo, R., & Grosso, S. (2014) · World Journal of Pediatrics · doi:10.1007/s12519-014-0478-9 · Cited by 18
The Prevalence and Treatment of Hip Dysplasia in Prader-Willi Syndrome (PWS)
Trizno, A. A., Jones, A. S., Carry, P. M., & Georgopoulos, G. (2018) · Journal of Pediatric Orthopaedics · doi:10.1097/bpo.0000000000001118 · Cited by 18
Diagnostic Criteria for Prader-Willi Syndrome
McCandless, S. E., & Cassidy, S. B. (2006) · Springer eBooks · doi:10.1007/978-0-387-33536-0_2 · Cited by 18
Self-citation
Contamination of poliovirus vaccine with SV40 and the incidence of medulloblastoma
Strickler, H. D., Rosenberg, P. S., Devesa, S. S., Fraumeni, J. F., & Goedert, J. J. (1999) · Medical and Pediatric Oncology · doi:10.1002/(sici)1096-911x(199901)32:1 · Cited by 14
Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism
Thompson, D., Kriss, A., Cottrell, S., & Taylor, D. (1999) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162299001292 · Cited by 18
Food Addiction and Cues in Prader-Willi Syndrome
von Deneen, K. M., Gold, M. S., & Liu, Y. (2009) · Journal of Addiction Medicine · doi:10.1097/adm.0b013e31819a6e5f · Cited by 17
Genetic conditions of short stature: A review of three classic examples
Butler, M. G., Miller, B. S., Romano, A. A., ROSS, J. L., Abuzzahab, M. J., Backeljauw, P. F., Bamba, V., Bhangoo, A., Mauras, N., & Geffner, M. E. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1011960 · Cited by 17
Self-citation
The use of medical care and the prevalence of serious illness in an adult Prader–Willi syndrome cohort
Sinnema, M., Maaskant, M. A., Valk, H. M. J. V. S. L., Boer, H., Curfs, L., & Schrander-Stumpel, C. T. R. M. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.05.011 · Cited by 17
Long-term outcome of epilepsy in patients with Prader–Willi syndrome
Verrotti, A., Cusmai, R., Laino, D., Falsaperla, R., Margari, L., Rizzo, R., Savasta, S., Grosso, S., Striano, P., Belcastro, V., et al. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7542-1 · Cited by 17
Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
Varela, M. C., Lopes, G. M. P., & Koiffmann, C. P. (2004) · Annales de Génétique · doi:10.1016/j.anngen.2004.01.003 · Cited by 17
Respiratory Sinus Arrhythmia in Patients With Prader-Willi Syndrome
DiMario, F. J., Bauer, L. O., Volpe, J., & Cassidy, S. B. (1996) · Journal of Child Neurology · doi:10.1177/088307389601100212 · Cited by 17
Self-citation
The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability
Rice, L. J., Gray, K. M., Howlin, P., Taffe, J. R., Tonge, B. J., & Einfeld, S. (2016) · Diseases · doi:10.3390/diseases4010009 · Cited by 17
The Multiple Indications for Growth Hormone Treatment of Pediatric Patients
Farber, R. S., & Kerrigan, J. R. (2006) · Pediatric Annals · doi:10.3928/0090-4481-20061201-06 · Cited by 17
Prader‐Willi syndrome in old age
Carpenter, P. K. (1994) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.1994.tb00441.x · Cited by 17
Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes
Buchholz, T., Jackson, J., Robson, L. G., & Smith, A. (1998) · Human Genetics · doi:10.1007/s004390050866 · Cited by 17
Unbalanced translocation t(15;22) in ‘severe’ Prader–Willi syndrome
Smith, A., Jauch, A., Heaps, L. S., Robson, L. G., & Kearney, B. (2000) · Annales de Génétique · doi:10.1016/s0003-3995(00)01017-0 · Cited by 17
Talla baja y enfermedades raras
Chueca, M., Berrade, S., & Oyarzabal, M. (2008) · Anales del Sistema Sanitario de Navarra · doi:10.4321/s1137-66272008000400004 · Cited by 17
Water Intoxication in a Patient With the Prader-Willi Syndrome Treated With Desmopressin for Nocturnal Enuresis
Robson, W. L. M., Shashi, V., Nagaraj, S. K., & Nørgaard, J. P. (1997) · The Journal of Urology · doi:10.1097/00005392-199702000-00079 · Cited by 17
Prader‐Willi Syndrome: Relationship of Adiposity to Plasma Leptin Levels
Pietrobelli, A., Allison, D. B., Faith, M. S., Beccaria, L., Bosio, L., Chiumello, G., Campfield, L. A., & Heymsfield, S. B. (1998) · Obesity Research · doi:10.1002/j.1550-8528.1998.tb00337.x · Cited by 17
Postprandial Adiponectin Levels Are Unlikely to Contribute to the Pathogenesis of Obesity in Prader-Willi Syndrome
Caixàs, A., Giménez‐Palop, O., Giménez‐Pérez, G., Potau, N., Berlanga, E., González-Clemente, J. M., Arroyo, J., Laferrère, B., & Mauricio, D. (2005) · Hormone Research in Paediatrics · doi:10.1159/000090513 · Cited by 17
Normal growth in Angelman syndrome due to paternal UPD
Smith, A., Robson, L. G., & Buchholz, B. (1998) · Clinical Genetics · doi:10.1111/j.1399-0004.1998.tb02682.x · Cited by 17
Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review
Blasi, F. D. D., Buono, S., Città, S., Costanzo, A. A., & Zoccolotti, P. (2018) · Brain Sciences · doi:10.3390/brainsci8080146 · Cited by 16
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome
Çakır, A. D., Baş, F., Akın, O., Şıklar, Z., Özcabı, B., Berberoğlu, M., Kardelen, A. D., Bayramoğlu, E., Poyrazoğlu, Ş., Aydın, M., et al. (2021) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2021.2020.0228 · Cited by 16
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
Christensen, B., Arbour, L. T., Tran, P. V., Leclerc, D., Sabbaghian, N., Platt, R. W., Gilfix, B. M., Rosenblatt, D. S., Gravel, R. A., Forbes, P. A., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990521)84:2 · Cited by 305
Clinical and genetic features of Prader-Willi syndrome in China
Lü, W., Qi, Y., Cui, B., Chen, X., Wu, B., Chen, C., Cao, Y., Zhou, W., Xu, H. M., & Luo, F. (2013) · European Journal of Pediatrics · doi:10.1007/s00431-013-2124-2 · Cited by 16
Functional Assessment and Behavioral Treatment of Skin Picking in a Teenage Girl With Prader-Willi Syndrome
Radstaake, M., Didden, R., Bolio, M., Lang, R. B., Lancioni, G. E., & Curfs, L. (2011) · Clinical Case Studies · doi:10.1177/1534650110395013 · Cited by 16
Efficacy and Safety of Adenotonsillectomy for Pediatric Obstructive Sleep Apnea in Prader-Willi Syndrome
Tanna, N., & Choi, S. S. (2009) · Annals of Otology Rhinology & Laryngology · doi:10.1177/000348940911800405 · Cited by 16
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Thomason, M. M., McCarthy, J., Goin‐Kochel, R. P., Dowell, L. R., Schaaf, C. P., & Berry, L. N. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3775-7 · Cited by 16
Prader–Willi syndrome in Taiwan
Lin, S.-P., LIN, S., Yen, J., LEE, Y., Huang, C.-T., Hung, H., HSU, C., Kao, H., Chang, J., Chiu, N., et al. (2007) · Pediatrics International · doi:10.1111/j.1442-200x.2007.02368.x · Cited by 16
Body composition in Prader‐Willi syndrome: assessment and effects of growth hormone administration
Davies, P. (1999) · Acta Paediatrica · doi:10.1111/j.1651-2227.1999.tb14415.x · Cited by 16
PDD AND PRADER-WILLI SYNDROME
Demb, H. B., & Papola, P. (1995) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199505000-00006 · Cited by 16
Effects of Growth Hormone in Prader-Willi Syndrome
Ruvalcaba, R. H. A., & Holm, V. A. (1993) · Clinical Pediatrics · doi:10.1177/000992289303200507 · Cited by 16
Self-citation
Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver’s quality of life
Chiu, V. J.-Y., Tsai, L., Wei, J.-T., Tzeng, I., & Wu, H.-C. (2017) · PeerJ · doi:10.7717/peerj.4097 · Cited by 15
Behavioral Phenotypes: Going Beyond the Two-Group Approach
Hodapp, R. M. (2004) · International review of research in mental retardation · doi:10.1016/s0074-7750(04)29001-2 · Cited by 15
Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly
Sinnema, M., van Roozendaal, K. E. P., Maaskant, M. A., Smeets, H. J. M., Engelen, J. J. M., Jonker-Houben, N., Schrander-Stumpel, C. T. R. M., & Curfs, L. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.67 · Cited by 15
Comparative analysis of autistic traits and behavioral disorders in Prader–Willi syndrome and Asperger disorder
Song, D. K., Sawada, M., Yokota, S., Kuroda, K., Uenishi, H., Kanazawa, T., Ogata, H., Ihara, H., Nagai, T., & Shimoda, K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36787 · Cited by 15
Effects of Growth Hormone Treatment on Height, Weight, and Obesity in Taiwanese Patients with Prader-Willi Syndrome
Lin, S.-P., Lin, S., Tsai, L., Chao, M., Chen, M., Chuang, C., Huang, C., Tsai, F., Chou, I., Chiu, P., et al. (2008) · Journal of the Chinese Medical Association · doi:10.1016/s1726-4901(08)70127-8 · Cited by 15
Speech and Language Disorders Associated with Prader-Willi Syndrome
Lewis, B. A. (2006) · Springer eBooks · doi:10.1007/978-0-387-33536-0_9 · Cited by 15
Developmental Diseases of the Nervous System
Kotagal, S., Bicknese, A. R., Eswara, M. S., Fenton, G. A., Geller, T. J., Grange, D. K., Martin, D. S., Nigro, M. A., & Pittman, T. A. (2003) · doi:10.1007/978-1-4757-4552-8_1 · Cited by 15
Relaxation of imprinting in Prader-Willi syndrome
Rogan, P. K., Seip, J. R., White, L. M., Wenger, S. L., Steele, M. W., Sperling, M. A., Menon, R. K., & Knoll, J. H. M. (1998) · Human Genetics · doi:10.1007/s004390050893 · Cited by 15
Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation (DC‐LD) and psychiatric phenotypes
Clarke, D. (2003) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.47.s1.7.x · Cited by 15
Identification of supernumerary der(20) chromosomes by FISH in three patients
Viersbach, R., Engels, H., & Schwanitz, G. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970613)70:3 · Cited by 21
Impairment of growth hormone responsiveness to growth hormone releasing hormone and pyridostigmine in patients affected by Prader-Labhardt-Willi syndrome
Beccaria, L., Benzi, F., Sanzari, A., Bosio, L., Brambilla, P., & Chiumello, G. (1996) · Journal of Endocrinological Investigation · doi:10.1007/bf03349040 · Cited by 15
Free Insulin-like Growth Factor (IGF)-I in Children with PWS
Damen, L., Elizabeth, M. S. M., Donze, S., van den Berg, S. A. A., de Graaff, L. C. G., & Hokken‐Koelega, A. C. S. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11051280 · Cited by 14
Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone
Drabik, M., Lewiñski, A., & Stawerska, R. (2022) · Pediatric Endocrinology Diabetes and Metabolism · doi:10.5114/pedm.2022.112861 · Cited by 14
Progress in Brain Magnetic Resonance Imaging of Individuals with Prader–Willi Syndrome
Huang, Z., & Cai, J. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12031054 · Cited by 14
Growth hormone secretion decreases with age in paediatric P rader‐ W illi syndrome
Cohen, M., Harrington, J., Narang, I., & Hamilton, J. K. (2014) · Clinical Endocrinology · doi:10.1111/cen.12694 · Cited by 14
Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder
Feldman, B. H., & Dimitropoulos, A. (2014) · Journal of Mental Health Research in Intellectual Disabilities · doi:10.1080/19315864.2013.857744 · Cited by 14
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome
Pellikaan, K., Rosenberg, A. G. W., Davidse, K., Kattentidt‐Mouravieva, A. A., Kersseboom, R., Bos‐Roubos, A. G., Grootjen, L. N., Damen, L., van den Berg, S. A. A., van der Lely, A. J., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10153250 · Cited by 15
Diagnostic Criteria in Neurology
Lerner, A. J. (2006) · Humana Press eBooks · doi:10.1007/978-1-59745-078-2 · Cited by 14
Serum Leptin Concentrations in Children with Prader-Willi Syndrome and Non-Syndromal Obesity
Bueno, G., Moreno, L. A., Pineda, I., López-Campos, J. L., Ruibal, J. L., Juste, M. G., Casado, E., & Bueno, M. (2000) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2000.13.4.425 · Cited by 14
A targeted deletion upstream of Snrpn does not result in an imprinting defect
Peery, E. G., Elmore, M. D., Resnick, J. L., Brannan, C. I., & Johnstone, K. A. (2007) · Mammalian Genome · doi:10.1007/s00335-007-9019-3 · Cited by 14
Is monoamine oxidase activity elevated in Prader-Willi syndrome?
Åkefeldt, A., & Månsson, J. (1998) · European Child & Adolescent Psychiatry · doi:10.1007/s007870050062 · Cited by 14
Diagnostic testing: a cost analysis for Prader-Willi and Angelman syndromes.
Monaghan, K. G., Dyke, D. L. V., Feldman, G. L., Wiktor, A. E., & Weiss, L. (1997) · Europe PMC (PubMed Central) · Cited by 14
PARENTAL EXPOSURE TO HYDROCARBONS IN PRADER‐WILLI SYNDROME
Åkefeldt, A., Anvret, M., Grandell, V., Nordlinder, R. G., & Gillberg, C. (1995) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1995.tb11971.x · Cited by 14
Hypotonic infants and the Prader-Willi Syndrome
Fridman, C., Kok, F., & Koiffmann, C. P. (2000) · Jornal de Pediatria · doi:10.2223/jped.66 · Cited by 14
Epigenetics in rare neurological diseases
Roberts, C.-T., Arezoumand, K. S., Shahib, A. K., Davie, J., & Rastegar, M. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2024.1413248 · Cited by 16
Molecular Basis of Genetic Neuropsychiatric Disorders
Venkitaramani, D. V., & Lombroso, P. J. (2007) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2007.03.003 · Cited by 13
Transcriptome Profiling Reveals Novel Candidate Genes Related to Hippocampal Dysfunction in SREBP-1c Knockout Mice
Ang, M. J., Kim, J., Lee, S., Kim, S., Kim, J.-C., Jeon, T., Im, S., & Moon, C. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21114131 · Cited by 13
EEG Patterns in Patients with Prader–Willi Syndrome
Elia, M., Rutigliano, I., Sacco, M. C., Madeo, S. F., Wasniewska, M. G., Pomi, A. L., Trifirò, G., Bella, P. D., Lucia, S. D., Vetri, L., et al. (2021) · Brain Sciences · doi:10.3390/brainsci11081045 · Cited by 13
Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in Prader–Willi syndrome
Yamada, K., Watanabe, M., & Suzuki, K. (2022) · Scientific Reports · doi:10.1038/s41598-022-08898-3 · Cited by 13
Oral mucosa in children with Prader-Willi syndrome
Olczak‐Kowalczyk, D., Witt, A., Gozdowskı, D., & Ginalska-Malinowska, M. (2011) · Journal of Oral Pathology and Medicine · doi:10.1111/j.1600-0714.2011.01034.x · Cited by 13
The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data
Kodra, Y., Minelli, G., Rocchetti, A., Manno, V., Carinci, A., Conti, S., Taruscio, D., & National Rare Diseases Registry Collaborating Group (2017) · Journal of Public Health · doi:10.1093/pubmed/fdx176 · Cited by 14
Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?
Sæves, R., Strøm, F., Sandvik, L., & Nordgarden, H. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0809-3 · Cited by 13
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome
Lei, M., Mitsuhashi, S., Miyake, N., Ohta, T., Liang, D., Wu, L., & Matsumoto, N. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0596-2 · Cited by 13
Genetic basis of Prader–Willi syndrome in Korea: less uniparental disomy than has been recognized?
Kim, H., Cho, H., Jin, D., Kwon, E., Ki, C., Kim, J., & Kim, S. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00323.x · Cited by 13
Between control and freedom in the care for persons with Prader-Willi syndrome: An analysis of preferred interventions by caregivers
van Hooren, R. H., Widdershoven, G. A. M., Candel, M. J. J. M., van den Borne, B. H. P., & Curfs, L. (2006) · Patient Education and Counseling · doi:10.1016/j.pec.2005.11.004 · Cited by 13
Analysis of Endothelial Protein C Receptor Gene and Metabolic Profile in Prader‐Willi Syndrome and Obese Subjects
Faienza, M. F., Ventura, A., Lauciello, R., Crinò, A., Ragusa, L., Cavallo, L., Spera, S., & Grugni, G. (2011) · Obesity · doi:10.1038/oby.2011.349 · Cited by 13
Neurofibromatosis type 1 growth charts
Clementi, M., Milani, S., Mammi, I., Boni, S., Monciotti, C., & Tenconi, R. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991203)87:4 · Cited by 111
A Rapunzel with a difference
Ramadan, N. A. (2003) · Archives of Disease in Childhood · doi:10.1136/adc.88.3.264 · Cited by 13
Developmental profiles and mentality in preschool children with Prader-Willi syndrome: a preliminary study.
Chen, C., Chen, C., Hou, J., Hsu, H., Chung, C.-Y., Chou, S.-W., Lin, C.-H., & Chen, K.-H. (2010) · PubMed · Cited by 13
[Epidemiology and scientific methodology applied to pediatrics (IV): diagnostic tests].
Sangrador, C. O., & Rodríguez-Arango, G. O. (1999) · PubMed · Cited by 13
VACTERL with the mitochondrial NP 3243 point mutation
Damian, M. S., Seibel, P., Schachenmayr, W., Reichmann, H., & Dorndorf, W. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960424)62:4 · Cited by 75
Water Intoxication in a Patient With the Prader-Willi Syndrome Treated With Desmopressin for Nocturnal Enuresis
Robson, W. L. M., Shashi, V., Nagaraj, S. K., & Nørgaard, J. P. (1997) · The Journal of Urology · doi:10.1016/s0022-5347(01)65241-8 · Cited by 13

Authors: Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F.
Affiliations: University of Washington (US)
ORCID: Butler, Merlin G.
Venue: Pediatrics
Publisher: American Academy of Pediatrics (AAP)
Published: 1993-02-01
Volume: 91
Issue: 2
Pages: 398-402
ISSN: 0031-4005 (ISSN-L)
1098-4275
DOI: 10.1542/peds.91.2.398
PMC: PMC6714046
OpenAlex: W2169243271
Cited by: 1,278
References: 31
Citations by year: 2026: 12 · 2025: 14 · 2024: 24 · 2023: 34 · 2022: 38 · 2021: 47 · 2020: 42 · 2019: 31 · 2018: 43 · 2017: 33 · 2016: 49 · 2015: 35 · 2014: 32 · 2013: 45 · 2012: 45
FWCI: 13.67
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: PEDIATRICS (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD030329)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Prader-Willi syndrome, diagnostic criteria, hypotonia, infantile obesity, intellectual disability, eating behavior problems, developmental disabilities, scoring system, consensus diagnosis, molecular genetics, cytogenetics
MeSH terms: Adolescent, Adult, Age Factors, Child, Child Behavior Disorders, Child, Preschool, Clinical Competence, Clinical Protocols, Evaluation Studies as Topic, Humans, Infant, Infant, Newborn, Intellectual Disability, Muscle Hypotonia, Obesity, Prader-Willi Syndrome, Sensitivity and Specificity, Severity of Illness Index

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks