Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

Milner, Katja M.; Craig, Ellen E.; Thompson, Russell J.; Veltman, Marijcke W.M.; Simon Thomas, N.; Roberts, Sian; Bellamy, Margaret; Curran, Sarah R.; Sporikou, Caroline M.J.; Bolton, Patrick F.

doi:10.1111/j.1469-7610.2005.01520.x

Cited by 177Genetic Syndromes and ImprintingAutism Spectrum Disorder ResearchWilliams Syndrome Research

Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

Milner, Katja M., Craig, Ellen E., Thompson, Russell J., Veltman, Marijcke W.M., Simon Thomas, N., Roberts, Sian, Bellamy, Margaret, Curran, Sarah R. +2 more·2005·Journal of Child Psychology and Psychiatry

DOI 10.1111/j.1469-7610.2005.01520.x

Open this paper in CoChat — free account

Abstract

Background Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with the 15q11-13 deletion form of the syndrome (where paternally imprinted genes are not over-expressed). We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion. Method Ninety-six individuals with PWS were recruited from genetic centres and the PWS association. Forty-nine individuals were confirmed as having maternal UPD of chromosome 15 and were age and sex matched to 47 individuals with a deletion involving 15q11-13 (32 had the shorter (T II) deletion, and 14 had the longer (TI) deletion). Behavioural assessments were carried out blind to genetic status, using the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview (ADI), the Autism Screening Questionnaire (ASQ), the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), the Vineland Adaptive Behaviour Scales (VABS), and measurements of intellectual ability, including the Wechsler and Mullen Scales and Raven's Matrices. Results UPD cases exhibited significantly more autistic-like impairments in reciprocal social interaction on questionnaire, interview and standa…

Integrity signals

Registry

Crossref · 10.1111/j.1469-7610.2005.01520.x

Cites

30 of 30 references verified0 citation errors · 0 not checkable

Statistics

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

Claims the paper makes

This paper’s full text isn’t openly available, 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?

Individuals with the larger typical 15q11-q13 type I deletion in Prader-Willi and Angelman syndromes have more severe neurodevelopmental symptoms than those with the smaller typical type II deletion.
“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [8]
Individuals with PWS and type II deletions had significantly higher verbal IQ scores than those with type I deletions.
“Milner et al. [8] found significantly higher verbal IQ scores in individuals with PWS and type II deletions versus those with type I deletions.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [8]

Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065 · see citing works
The Yale-Brown Obsessive Compulsive Scale: I. Development, Use, and Reliability
Goodman, W. K. (1989) · Archives of General Psychiatry · doi:10.1001/archpsyc.1989.01810110048007 · Cited by 7,712 · see citing works
The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520 · see citing works
Children's Yale-Brown Obsessive Compulsive Scale: Reliability and Validity
SCAHILL, L., RIDDLE, M. A., McSWIGGIN-HARDIN, M., ORT, S. I., KING, R. A., GOODMAN, W. K., CICCHETTI, D., & LECKMAN, J. F. (1997) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199706000-00023 · Cited by 2,045 · see citing works
Autism screening questionnaire: diagnostic validity
Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999) · British Journal of Psychiatry · doi:10.1192/bjp.175.5.444 · Cited by 1,464 · see citing works
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993) · Pediatrics · doi:10.1542/peds.91.2.398 · Cited by 1,278 · see citing works
Untitled work
(1997) · PubMed · Cited by 645 · see citing works
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
Albrecht, U., Sutcliffe, J. S., Cattanach, B. M., BEECHEY, C. V., Armstrong, D. L., Gregor Eichele, C., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0997-75 · Cited by 586 · see citing works
The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain
Rougeulle, C., Glatt, H., & Lalande, M. (1997) · Nature Genetics · doi:10.1038/ng0997-14 · Cited by 416 · see citing works
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
Vu, T. H., & Hoffman, A. R. (1997) · Nature Genetics · doi:10.1038/ng0997-12 · Cited by 321 · see citing works
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy
Boer, H., Holland, A. J., Whittington, J. E., Butler, J., Webb, T. P., & Clarke, D. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07340-3 · Cited by 302 · see citing works
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298 · see citing works
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
Cassidy, S. B., Forsythe, M. E., Heeger, S., Nicholls, R. D., Schork, N. J., BENN, P. A., & Schwartz, S. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970211)68:4 · Cited by 258 · see citing works
The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism
Ronald, A., Happé, F., & Plomin, R. (2005) · Developmental Science · doi:10.1111/j.1467-7687.2005.00433.x · Cited by 250 · see citing works
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
Bolton, P. F., Dennis, N. R., Browne, C. E., Thomas, N. S., Veltman, M. W. M., Thompson, R. J., & Jacobs, P. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1551 · Cited by 246 · see citing works
Self-citation
Autism spectrum disorders in Prader???Willi and Angelman syndromes: a systematic review
Veltman, M. W. M., Craig, E. E., & Bolton, P. (2005) · Psychiatric Genetics · doi:10.1097/00041444-200512000-00006 · Cited by 218 · see citing works
Self-citation
Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons
Chai, J.-H., Locke, D. P., Greally, J. M., Knoll, J. H. M., Ohta, T., Dunai, J., Yavor, A., Eichler, E. E., & Nicholls, R. D. (2003) · The American Journal of Human Genetics · doi:10.1086/378816 · Cited by 218 · see citing works
Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes
Roof, E., Stone, W. L., MacLean, W. E., Feurer, I. D., Thompson, T., & Butler, M. G. (2000) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.2000.00250.x · Cited by 193 · see citing works
Autism in Angelman syndrome: implications for autism research
Peters, S., Beaudet, A. L., Madduri, N., & Bacino, C. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00362.x · Cited by 193 · see citing works
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.
Christian, S. L., Robinson, W. P., Huang, B., Mutirangura, A., Line, M. R., Nakao, M., Surti, U., Chakravarti, A., & Ledbetter, D. H. (1995) · Europe PMC (PubMed Central) · Cited by 188 · see citing works
Prader–Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey
Clarke, D. J., Boer, H., Whittington, J. E., Holland, A. J., Butler, J., & Webb, T. (2002) · The British Journal of Psychiatry · doi:10.1192/bjp.180.4.358 · Cited by 156 · see citing works
Prader-Willi syndrome
Veltman, M. W. M., Thompson, R. J., Roberts, S. E., Thomas, N. S., Whittington, J. E., & Bolton, P. (2004) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-004-0354-6 · Cited by 134 · see citing works
Self-citation
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
Gillessen‐Kaesbach, G., Robinson, W. P., Lohmann, D. R., Kaya, S., Passarge, E., & Horsthemke, B. (1995) · Human Genetics · doi:10.1007/bf00210291 · Cited by 119 · see citing works
Correlates of maladaptive behavior in children and adults with Prader‐Willi syndrome
Dykens, E. M., & Cassidy, S. B. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600612 · Cited by 109 · see citing works
Maternal origin of inv dup(15) chromosomes in infantile autism
Martinsson, T., Johannesson, T., Vujic, M., Sj�stedt, A., Steffenburg, S., Gillberg, C., & Wahlstr�m, J. (1996) · European Child & Adolescent Psychiatry · doi:10.1007/bf00538845 · Cited by 54 · see citing works
Prader-Willi Syndrome
Whittington, J. E., & Holland, T. (2004) · Cambridge University Press eBooks · doi:10.1017/cbo9780511543869 · Cited by 38 · see citing works
Kinetic form discrimination in Prader–Willi syndrome
Fox, R., Yang, G. S., Feurer, I. D., Butler, M. G., & Thompson, T. (2001) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.2001.00326.x · Cited by 22 · see citing works
Enhancing Free-Recall Rates of Individuals With Mental Retardation
Carlin, M. T., Soraci, S. A., Dennis, N. A., Chechile, N. A., & Loiselle, R. C. (2001) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2001)106 · Cited by 16 · see citing works
A quantitative polymerase chain reaction method for determining copy number within the Prader–Willi/Angelman syndrome critical region
Roberts, S. E., & Thomas, N. (2003) · Clinical Genetics · doi:10.1034/j.1399-0004.2003.00094.x · Cited by 9 · see citing works
Self-citation
Mothers and Fathers of Children With Down Syndrome: Parental Stress and Involvement in Childcare
(1999) · doi:10.1352/0895-8017(1999)104

Flagged first, then by citations

2 of the 32 references couldn’t be matched to a known paper.

Sorted by citations

Prader-Willi syndrome
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822bead0 · Cited by 1,452 · see citing works
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
Prader–Willi syndrome
Cassidy, S. B., & Driscoll, D. J. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.165 · Cited by 593 · see citing works
Recommendations for the Diagnosis and Management of Prader-Willi Syndrome
Goldstone, A. P., Holland, A. J., Hauffa, B. P., Hokken‐Koelega, A. C. S., & Tauber, M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0649 · Cited by 523 · see citing works
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 354 · see citing works
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336 · see citing works
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., Gadi, I. K., Keitges, E., Jaswaney, V. L., Papenhausen, P. R., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0970-4 · Cited by 257 · see citing works
The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Cox, D., & Butler, M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16024068 · Cited by 243 · see citing works
“[8] found significantly higher verbal IQ scores in individuals with PWS and type II deletions versus those with type I deletions.”
Background
Autism Spectrum Disorders and Epigenetics
Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235 · see citing works
Assessment of Hyperphagia in Prader‐Willi Syndrome
Dykens, E. M., Maxwell, M. A., Pantino, E., Kossler, R., & Roof, E. (2007) · Obesity · doi:10.1038/oby.2007.216 · Cited by 219 · see citing works
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
Hogart, A., Leung, K. N., Wang, N. J., Wu, D. J., Driscoll, J., Vallero, R. O., Schanen, N. C., & LaSalle, J. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061580 · Cited by 199 · see citing works
Savant skills in autism: psychometric approaches and parental reports
Howlin, P., Goode, S., Hutton, J., & Rutter, M. L. (2009) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2008.0328 · Cited by 198 · see citing works
Health Supervision for Children With Prader-Willi Syndrome
McCandless, S. E. (2010) · PEDIATRICS · doi:10.1542/peds.2010-2820 · Cited by 195 · see citing works
Psychiatric Characteristics in a Self-Selected Sample of Boys With Klinefelter Syndrome
Bruining, H., Swaab, H., Kas, M. J., & van Engeland, H. (2009) · PEDIATRICS · doi:10.1542/peds.2008-1954 · Cited by 194 · see citing works
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
Bittel, D. C., Kibiryeva, N., & Butler, M. G. (2006) · Pediatrics · doi:10.1542/peds.2006-0424 · Cited by 188 · see citing works
Behavior in Prader‐Willi syndrome: relationship to genetic subtypes and age
Dykens, E. M., & Roof, E. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.01913.x · Cited by 145 · see citing works
Prader–Willi syndrome and autism spectrum disorders: an evolving story
Dykens, E. M., Lee, E., & Roof, E. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9092-5 · Cited by 128 · see citing works
Autism spectrum disorder in Prader–Willi syndrome: A systematic review
Bennett, J., Germani, T., Haqq, A. M., & Zwaigenbaum, L. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37286 · Cited by 124 · see citing works
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
Vanlerberghe, C., Petit, F., Malan, V., Vincent‐Delorme, C., Bouquillon, S., Boute, O., Holder‐Espinasse, M., Delobel, B., Duban‐Bedu, B., Vallée, L., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.01.002 · Cited by 123 · see citing works
Prader-Willi syndrome
Veltman, M. W. M., Thompson, R. J., Roberts, S. E., Thomas, N. S., Whittington, J. E., & Bolton, P. (2004) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-004-0354-6 · Cited by 134 · see citing works
Self-citation
Early Infant Development and Intervention for Autism Spectrum Disorder
Sacrey, L.-A. R., Bennett, J., & Zwaigenbaum, L. (2015) · Journal of Child Neurology · doi:10.1177/0883073815601500 · Cited by 109 · see citing works
Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity
Oliver, C., Berg, K., Moss, J. F., Arron, K., & Burbidge, C. (2010) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-1125-5 · Cited by 108 · see citing works
Autism spectrum disorders: The quest for genetic syndromes
Zafeiriou, D., Ververi, A., Dafoulis, V., Kalyva, E., & Vargiami, E. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32152 · Cited by 104 · see citing works
Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
Cheon, C. K. (2016) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2016.21.3.126 · Cited by 109 · see citing works
Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes
Kim, S., Miller, J. L., Kuipers, P. J., German, J. R., Beaudet, A. L., Sahoo, T., & Driscoll, D. J. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.187 · Cited by 104 · see citing works
Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder
Butler, M. G. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12382 · Cited by 102 · see citing works
Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader–Willi syndrome chromosome 15 q11–q13 deletion and boys with Fragile X syndrome
Woodcock, K. A., Oliver, C., & Humphreys, G. W. (2009) · Cognitive Neuropsychology · doi:10.1080/02643290802685921 · Cited by 100 · see citing works
Autistic-like symptomatology in Prader-Willi syndrome: A review of recent findings
Dimitropoulos, A., & Schultz, R. T. (2007) · Current Psychiatry Reports · doi:10.1007/s11920-007-0086-7 · Cited by 95 · see citing works
Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics
Jacob, S., Landeros‐Weisenberger, A., & Leckman, J. F. (2009) · Autism Research · doi:10.1002/aur.108 · Cited by 91 · see citing works
Behavioral phenotype in adults with Prader–Willi syndrome
Sinnema, M., Einfeld, S., Schrander-Stumpel, C. T. R. M., Maaskant, M. A., Boer, H., & Curfs, L. (2011) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2010.12.014 · Cited by 90 · see citing works
Behavioral signatures related to genetic disorders in autism
Bruining, H., Eijkemans, M. J., Kas, M. J., Curran, S. R., Vorstman, J. A., & Bolton, P. F. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-11 · Cited by 77 · see citing works
Self-citation
Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome
Dykens, E. M., Roof, E., Hunt‐Hawkins, H., Dankner, N., Lee, E. B., Shivers, C. M., Daniell, C., & Kim, S. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9200-2 · Cited by 85 · see citing works
Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis
Yang, L., Zhan, G., Ding, J., Wang, H., Ma, D., Huang, G.-Y., & Zhou, W. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072640 · Cited by 84 · see citing works
Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study
Butler, M. G., Kimonis, V. E., Dykens, E. M., Gold, J. A., Miller, J. L., Tamura, R., & Driscoll, D. J. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38582 · Cited by 83 · see citing works
Prader-Willi Syndrome: Clinical Aspects
Grechi, E., Cammarata, B., Mariani, B., Candia, S. D., & Chiumello, G. (2012) · Journal of Obesity · doi:10.1155/2012/473941 · Cited by 85 · see citing works
Clinical‐etiologic correlation in children with Prader‐Willi syndrome (PWS): An interdisciplinary study
Torrado, M., Aráoz, H. V., Baialardo, E. M., Abraldes, K., Mazza, C. S., Krochik, G., Ozuna, B., Leske, V., Caíno, S., Fano, V., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31520 · Cited by 79 · see citing works
Clinical management of behavioral characteristics of Prader–Willi syndrome
Dimitropoulos, A. (2010) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s5560 · Cited by 81 · see citing works
The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader–Willi syndrome
Zarcone, J. R., Napolitano, D. A., Peterson, C., Breidbord, J., Ferraioli, S. J., Caruso‐Anderson, M., Holsen, L. M., Butler, M. G., & Thompson, T. I. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00916.x · Cited by 80 · see citing works
Cognitive profile in a large french cohort of adults with Prader–Willi syndrome: differences between genotypes
Copet, P., Jauregi, J., Laurier, V., Ehlinger, V., Arnaud, C., Cobo, A. M., Molinas, C., Tauber, M., & Thuilleaux, D. (2010) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2010.01251.x · Cited by 82 · see citing works
Social responsiveness and competence in Prader–Willi syndrome: direct comparison to autism spectrum disorder
Dimitropoulos, A., Ho, A., & Feldman, B. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1547-3 · Cited by 77 · see citing works
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Oliver, C., Horsler, K., Berg, K., Bellamy, G., Dick, K., & Griffiths, E. (2007) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2007.01736.x · Cited by 74 · see citing works
Cytoplasmic FMR1-Interacting Protein 2 Is a Major Genetic Factor Underlying Binge Eating
Kirkpatrick, S. L., Goldberg, L. R., Yazdani, N., Babbs, R. K., Wu, J., Reed, E. R., Jenkins, D. F., Bolgioni, A. F., Landaverde, K. I., Luttik, K. P., et al. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.10.021 · Cited by 71 · see citing works
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
Scoles, H. A., Urraca, N., Chadwick, S. W., Reiter, L. T., & LaSalle, J. M. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-19 · Cited by 71 · see citing works
Prader‐Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults
Manzardo, A. M., Weisensel, N., Ayala, S., Hossain, W. A., & Butler, M. G. (2017) · Clinical Genetics · doi:10.1111/cge.13142 · Cited by 70 · see citing works
Medical, psychological and social features in a large cohort of adults with P rader– W illi syndrome: experience from a dedicated centre in France
Laurier, V., Lapeyrade, A., Copet, P., Demeer, G., Silvie, M., Bieth, É., Coupaye, M., Poitou, C., Lorenzini, F., Labrousse, F., et al. (2014) · Journal of Intellectual Disability Research · doi:10.1111/jir.12140 · Cited by 66 · see citing works
Longitudinal follow‐up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
Peters, S. U., Horowitz, L. T., Barbieri‐Welge, R. L., Taylor, J. L., & Hundley, R. J. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02455.x · Cited by 68 · see citing works
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
Murthy, S. K., Nygren, A. O. H., El Shakankiry, H. M., Schouten, J. P., Al Khayat, A. I., Ridha, A., & Al Ali, M. T. (2007) · Cytogenetic and Genome Research · doi:10.1159/000097433 · Cited by 79 · see citing works
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader–Willi syndrome
Lo, S. T., Siemensma, E. P. C., Collin, P. J. L., & Hokken‐Koelega, A. C. S. (2013) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2013.05.024 · Cited by 64 · see citing works
Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
Wolf, V. D., Brison, N., Devriendt, K., & Peeters, H. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36209 · Cited by 61 · see citing works
Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Analysis of Subjects with Chromosome 15 Abnormalities
Bittel, D. C., Kibiryeva, N., & Butler, M. G. (2007) · Genetic Testing · doi:10.1089/gte.2007.0061 · Cited by 60 · see citing works
The neuroanatomy of genetic subtype differences in Prader–Willi syndrome
Honea, R. A., Holsen, L. M., Lepping, R. J., Perea, R. D., Butler, M. G., Brooks, W. M., & Savage, C. R. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32022 · Cited by 55 · see citing works
Prader-Willi syndrome: A primer for clinicians
Cataletto, M. E., Angulo, M., Hertz, G., & Whitman, B. Y. (2011) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2011-12 · Cited by 55 · see citing works
Recurrent 15q11.2 BP1‐BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
Picinelli, C., Lintas, C., Piras, I. S., Gabriele, S., Sacco, R., Brogna, C., & Persico, A. M. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32480 · Cited by 51 · see citing works
Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance
Ateş, T., Öncül, M., Dilsiz, P., Topcu, I. C., Cıvaş, C. C., Alp, M. İ., Aklan, İ., Öz, E. A., Yavuz, Y., Yılmaz, B., et al. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.09.017 · Cited by 51 · see citing works
Epigenetic therapy of Prader–Willi syndrome
Kim, Y., Wang, S. E., & Jiang, Y. (2019) · Translational research · doi:10.1016/j.trsl.2019.02.012 · Cited by 53 · see citing works
Expressive and receptive language in Prader–Willi syndrome: Report on genetic subtype differences
Dimitropoulos, A., Ferranti, A., & Hugh, M. L. (2012) · Journal of Communication Disorders · doi:10.1016/j.jcomdis.2012.12.001 · Cited by 50 · see citing works
Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome
Lukoshe, A., White, T., Schmidt, M. N., van der Lugt, A., & Hokken-Koelega, A. C. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-31 · Cited by 49 · see citing works
Behavioral and psychiatric disorders in Prader-Willi syndrome: A population study in Japan
Hiraiwa, R., Maegaki, Y., Oka, A., & Ohno, K. (2007) · Brain and Development · doi:10.1016/j.braindev.2007.01.005 · Cited by 46 · see citing works
Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome
Dykens, E. M., Roof, E., Hunt‐Hawkins, H., Daniell, C., & Jurgensmeyer, S. (2019) · PLoS ONE · doi:10.1371/journal.pone.0223162 · Cited by 45 · see citing works
Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader–Willi and Smith–Magenis Syndromes
Oliver, C., Adams, D., Allen, D., Bull, L., Heald, M., Moss, J. F., Wilde, L., & Woodcock, K. A. (2013) · International review of research in developmental disabilities · doi:10.1016/b978-0-12-401662-0.00006-3 · Cited by 44 · see citing works
Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder
Dudley, O., & Muscatelli, F. (2006) · Early Human Development · doi:10.1016/j.earlhumdev.2006.09.002 · Cited by 44 · see citing works
The Imprinted Brain: How Genes Set the Balance Between Autism and Psychosis
Badcock, C. (2011) · Epigenomics · doi:10.2217/epi.11.19 · Cited by 43 · see citing works
Beneficial Effects of Long-Term Growth Hormone Treatment on Adaptive Functioning in Infants With Prader-Willi Syndrome
Lo, S. T., Festen, D. A. M., van Wijngaarden, R. F. A. T.-D. L., Collin, P. J. L., & Hokken-Koelega, A. (2015) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-120.4.315 · Cited by 38 · see citing works
Behavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables
Jauregi, J., Laurier, V., Copet, P., Tauber, M., & Thuilleaux, D. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-18 · Cited by 37 · see citing works
The Imprinted Brain: How Genes Set the Balance Between Autism and Psychosis
Badcock, C. R. (2013) · Epigenetics and human health · doi:10.1007/978-3-642-36827-1_5 · Cited by 36 · see citing works
Finding genes in child psychology and psychiatry: When are we going to be there?
Plomin, R. J. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01524.x · Cited by 36 · see citing works
Social and emotional processing in Prader-Willi syndrome: genetic subtype differences
Key, A. P. F., Jones, D., & Dykens, E. M. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-7 · Cited by 35 · see citing works
Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study
Bennett, J., Thompson‐Hodgetts, S., Mackenzie, M. L., Haqq, A. M., & Zwaigenbaum, L. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18030517 · Cited by 34 · see citing works
Behavior in children with Prader–Willi syndrome before and during growth hormone treatment: a randomized controlled trial and 8-year longitudinal study
Lo, S. T., Siemensma, E. P. C., Festen, D. A. M., Collin, P. J. L., & Hokken‐Koelega, A. C. S. (2014) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-014-0662-4 · Cited by 34 · see citing works
Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome
Manning, K. E., & Holland, A. J. (2015) · Diseases · doi:10.3390/diseases3040382 · Cited by 33 · see citing works
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases
Ogata, H., Ihara, H., Murakami, N., Gito, M., Kido, Y., & Nagai, T. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36615 · Cited by 32 · see citing works
Assessment of Pretend Play in Prader–Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder
Zyga, O., Russ, S. W., Ievers‐Landis, C. E., & Dimitropoulos, A. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2252-1 · Cited by 32 · see citing works
Psychiatric disorders in children with Prader–Willi syndrome—Results of a 2‐year longitudinal study
Lo, S., Collin, P. J. L., & Hokken‐Koelega, A. C. S. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36998 · Cited by 32 · see citing works
A comparison of behavioral and emotional characteristics in children with autism, Prader–Willi syndrome, and Williams syndrome
Dimitropoulos, A., Ho, A. Y., Klaiman, C., Koenig, K., & Schultz, R. T. (2009) · Journal of Mental Health Research in Intellectual Disabilities · doi:10.1080/19315860903052204 · Cited by 31 · see citing works
A model to characterize psychopathological features in adults with Prader‐Willi syndrome
Thuilleaux, D., Laurier, V., Copet, P., Tricot, J., Demeer, G., Mourre, F., Tauber, M., & Jauregi, J. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38525 · Cited by 32 · see citing works
Repetitive behavior profiles: consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome
Flores, C. G., Valcante, G., Guter, S., Zaytoun, A., Wray, E., Bell, L., Jacob, S., Lewis, M. H., Driscoll, D. J., Cook, E. H., et al. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9094-3 · Cited by 30 · see citing works
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A
Guffanti, G., Lievers, L. S., Bonati, M. T., Marchi, M., Geronazzo‐Alman, L., Nardocci, N., Estienne, M., Larizza, L., Macciardi, F. M., & Russo, S. (2010) · Psychiatry Research · doi:10.1016/j.psychres.2010.04.057 · Cited by 29 · see citing works
Impaired melanocortin pathway function in Prader–Willi syndrome gene-Magel2 deficient mice
Öncül, M., Dilsiz, P., Öz, E. A., Ateş, T., Aklan, İ., Çelik, E., Sayar, N., & Atasoy, D. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy216 · Cited by 27 · see citing works
Cognition and behavior in pre‐pubertal children with Prader–Willi syndrome and associations with sleep‐related breathing disorders
Festen, D. A. M., Wevers, M., de Weerd, A., van den Bossche, R. A. S., Duivenvoorden, H. J., & Hokken‐Koelega, A. C. S. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32241 · Cited by 28 · see citing works
Face and gaze processing in Prader‐Willi syndrome
Halit, H., Grice, S. J., Bolton, P., & Johnson, M. H. (2008) · Journal of Neuropsychology · doi:10.1348/174866407x243305 · Cited by 28 · see citing works
Self-citation
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Dai, Y.-L., Luo, F., Zhang, H., Ma, M.-S., Xiao-Ping, L., Li, L., Wang, Y., Zhou, Q., Yong-hui, J., Zou, C., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02302-z · Cited by 27 · see citing works
Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes.
Grugni, G., Giardino, D. L., Crinò, A., Malvestiti, F., Ballarati, L., Giorgio, G. D., & Marzullo, P. (2011) · PubMed · doi:10.3275/7203 · Cited by 26 · see citing works
Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature
Debladis, J., Valette, M., Strelnikov, K., Mantoulan, C., Thuilleaux, D., Laurier, V., Molinas, C., Barone, P., & Tauber, M. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1221-3 · Cited by 26 · see citing works
<i>Cyfip1</i> Haploinsufficiency Increases Compulsive-Like Behavior and Modulates Palatable Food Intake in Mice: Dependence on <i>Cyfip2</i> Genetic Background, Parent-of Origin, and Sex
Babbs, R. K., Beierle, J. A., Ruan, Q. T., Kelliher, J. C., Chen, M. M., Feng, A. X., Kirkpatrick, S. L., Benitez, F. A., Rodriguez, F. A., Pierre, J. J., et al. (2019) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.119.400470 · Cited by 26 · see citing works
Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice
Chung, L., Wang, X., Zhu, L., Towers, A. J., Cao, X., Kim, I. H., & Jiang, Y. (2015) · Brain Research · doi:10.1016/j.brainres.2015.10.015 · Cited by 25 · see citing works
Medical conditions in autism spectrum disorders
Bolton, P. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9021-z · Cited by 25 · see citing works
Self-citation
Cross‐cultural comparisons of obesity and growth in Prader–Willi syndrome
Dudley, O., McManus, B., Vogels, A., Whittington, J. E., & Muscatelli, F. (2008) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2008.01044.x · Cited by 25 · see citing works
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
Madeo, S. F., Zagaroli, L., Vandelli, S., Calcaterra, V., Crinò, A., SANCTIS, L. D., Faienza, M. F., Fintini, D., Guazzarotti, L., Licenziati, M. R., et al. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1382583 · Cited by 24 · see citing works
A structured assessment of motor function and behavior in patients with Kleefstra syndrome
Schmidt, S., Nag, H. E., Hunn, B. S., Houge, G., & Hoxmark, L. B. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.01.004 · Cited by 24 · see citing works
Leisure Activities in Prader-Wlli Syndrome: Implications for Health, Cognition and Adaptive Functioning
Dykens, E. M. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1462-7 · Cited by 23 · see citing works
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
Rosenberg, A. G. W., Wellink, C., Garcia, J. M. T., Pellikaan, K., van Abswoude, D. H., Davidse, K., van Zutven, L. J. C. M., Brüggenwirth, H. T., Resnick, J. L., van der Lely, A. J., et al. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11144033 · Cited by 22 · see citing works
Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
Khare, M., Gold, J., Wencel, M., Billimek, J., Surampalli, A., Duarte, B., Pontello, A. M., Galassetti, P. R., Cassidy, S. B., & Kimonis, V. E. (2014) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2013-0180 · Cited by 22 · see citing works
Nonverbal Cognitive Development in Children With Cochlear Implants
Caudle, S. E., Katzenstein, J. M., Oghalai, J. S., Lin, J., & Caudle, D. D. (2012) · Assessment · doi:10.1177/1073191112437594 · Cited by 22 · see citing works
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
Jiang, Y. H., Wauki, K., Liu, Q., Bressler, J., Pan, Y., Kashork, C. D., Shaffer, L. G., & Beaudet, A. L. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-50 · Cited by 22 · see citing works
Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome
Key, A. P. F., & Dykens, E. M. (2017) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nsx013 · Cited by 20 · see citing works
Visual‐motor integration in children with P rader– W illi syndrome
Lo, S., Collin, P. J. L., & Hokken-Koelega, A. (2015) · Journal of Intellectual Disability Research · doi:10.1111/jir.12197 · Cited by 18 · see citing works
Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q
Calounova, G., Hedvičáková, P., Šilhánová, E., Křečková, G., & Sedláček, Z. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32416 · Cited by 17 · see citing works
The Cognitive Genetics of Neuropsychiatric Disorders
Corvin, A. P., Donohoe, G. J., Hargreaves, A., Gallagher, L., & Gill, M. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_188 · Cited by 17 · see citing works
From Prader–Willi Syndrome to Psychosis: Translating Parent-of-Origin Effects into Schizophrenia Research
Krefft, M., Frydecka, D., Adamowski, T., & Misiak, B. (2014) · Epigenomics · doi:10.2217/epi.14.52 · Cited by 16 · see citing works
Food and Non-Food-Related Behavior across Settings in Children with Prader–Willi Syndrome
Gantz, M. G., Andrews, S. M., & Wheeler, A. (2020) · Genes · doi:10.3390/genes11020204 · Cited by 16 · see citing works

Prader-Willi syndrome
Veltman, M. W. M., Thompson, R. J., Roberts, S. E., Thomas, N. S., Whittington, J. E., & Bolton, P. (2004) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-004-0354-6 · Cited by 134 · see citing works
Self-citation
Intellectual characteristics of Prader–Willi syndrome: comparison of genetic subtypes
Roof, E., Stone, W. L., MacLean, W. E., Feurer, I. D., Thompson, T., & Butler, M. G. (2000) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.2000.00250.x · Cited by 193 · see citing works
Autistic-like symptomatology in Prader-Willi syndrome: A review of recent findings
Dimitropoulos, A., & Schultz, R. T. (2007) · Current Psychiatry Reports · doi:10.1007/s11920-007-0086-7 · Cited by 95 · see citing works
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases
Ogata, H., Ihara, H., Murakami, N., Gito, M., Kido, Y., & Nagai, T. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36615 · Cited by 32 · see citing works
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
Bittel, D. C., Kibiryeva, N., & Butler, M. G. (2006) · Pediatrics · doi:10.1542/peds.2006-0424 · Cited by 188 · see citing works

Authors: Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Simon Thomas, N., Roberts, S., Bellamy, M., Curran, S. R., Sporikou, C. M. J., & Bolton, P. F.
Affiliations: Medical Research Council (GB)
University of Cambridge (GB)
Wessex Regional Genetics Laboratory (GB)
Corresponding author: Bolton, Patrick F.
ORCID: Curran, Sarah R.
Bolton, Patrick F.
Venue: Journal of Child Psychology and Psychiatry
Publisher: Wiley
Published: 2005-09-22
Volume: 46
Issue: 10
Pages: 1089-1096
ISSN: 0021-9630 (ISSN-L)
1469-7610
DOI: 10.1111/j.1469-7610.2005.01520.x
OpenAlex: W2055573605
Cited by: 177
References: 32
Citations by year: 2026: 2 · 2025: 2 · 2024: 8 · 2023: 5 · 2022: 7 · 2021: 2 · 2020: 6 · 2019: 6 · 2018: 6 · 2017: 12 · 2016: 10 · 2015: 10 · 2014: 11 · 2013: 15 · 2012: 14
FWCI: 4.51
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Child Psychology and Psychiatry (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Research Portal (King's College London) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Prader-Willi syndrome, chromosome 15q11-13, uniparental disomy, autism spectrum disorder, intellectual ability, behavioral phenotypes, reciprocal social interaction, obsessive-compulsive symptoms, adaptive behavior, autism etiology
MeSH terms: Adolescent, Adult, Analysis of Variance, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Genetics, Behavioral, United Kingdom, Humans, Intelligence, Male, Middle Aged, Prader-Willi Syndrome, Single-Blind Method, Matched-Pair Analysis, Uniparental Disomy

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: Intellectual abilities and behavioural features by genetic subtype

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks