Aman, L. C. S., Manning, K. E., Whittington, J. E., & Holland, A. J. (2018). Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. The Lancet. Psychiatry, 5(4), 370–378. https://doi.org/10.1016/S2215-0366(18)30009-9
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L. Autism spectrum disorder in Prader-Willi syndrome: A systematic review. Am J Med Genet A. 2015 Dec;167A(12):2936-44. doi: 10.1002/ajmg.a.37286. Epub 2015 Aug 29. PMID: 26331980.
Boer, H., Holland, A.J., Whittington, J., Butler, J., Webb, T. and Clarke, D. (2002). Psychotic illness in people with Prader-Willi Syndrome due to chromosome 15 maternal uniparental disomy The Lancet, 359: 135-136.
Buysse, D. J. (2014). Sleep health: Can we define it? Does it matter? Sleep, 37(1), 9–17. https://doi.org/10.5665/sleep.3298
Buysse, D. J., Reynolds, C. F., Monk, T. H., Berman, S. R., & Kupfer, D. J. (1989). The Pittsburgh sleep quality index: A new instrument for psychiatric practice and research. Psychiatry Research, 28(2), 193–213. https://doi.org/10.1016/0165-1781(89)90047-4
Calkins, M. E., Merikangas, K. R., Moore, T. M., Burstein, M., Behr, M. A., Satterthwaite, T. D., Ruparel, K., Wolf, D. H., Roalf, D. R., Mentch, F. D., Qiu, H., Chiavacci, R., Connolly, J. J., Sleiman, P. M. A., Gur, R. C., Hakonarson, H., & Gur, R. E. (2015). The Philadelphia Neurodevelopmental Cohort: Constructing a deep phenotyping collaborative. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 56(12), 1356–1369. https://doi.org/10.1111/jcpp.12416
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012). Prader-Willi syndrome. Genetics in Medicine, 14(1), 10–26. https://doi.org/10.1038/gim.0b013e31822bead0
Cotton, S., & Richdale, A. (2006). Brief report: Parental descriptions of sleep problems in children with autism, Down syndrome, and Prader–Willi syndrome. Research in Developmental Disabilities, 27(2), 151–161. https://doi.org/10.1016/j.ridd.2004.12.003
Debladis, J., Valette, M., Strenilkov, K. Mantoulan, Thuilleaux, Laurier, Molinas, Pascal Barone and Tauber, M. Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature. Orphanet J Rare Dis 14, 262 (2019). https://doi.org/10.1186/s13023-019-1221-3
Dimitropoulos, A., Zyga, O., & Russ, S. W. (2019). Early Social Cognitive Ability in Preschoolers with Prader–Willi Syndrome and Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 49(11), 4441–4454. https://doi.org/10.1007/s10803-019-04152-4
Dykens, Elisabeth M., Hodapp, R. M., Walsh, K., & Nash, L. J. (1992). Profiles, Correlates, and Trajectories of Intelligence in Prader-Willi Syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 31(6), 1125–1130. https://doi.org/10.1097/00004583-199211000-00022
Dykens, Elisabeth M., Roof, E., Hunt-Hawkins, H., Daniell, C., & Jurgensmeyer, S. (2019). Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome. PLOS ONE, 14(10), e0223162. https://doi.org/10.1371/journal.pone.0223162
Fonseca‐Pedrero, E., Inchausti, F., Pérez‐Albéniz, A., & Ortuño‐Sierra, J. (2018). Validation of the Prodromal Questionnaire–Brief in a representative sample of adolescents: Internal structure, norms, reliability, and links with psychopathology. International Journal of Methods in Psychiatric Research, 27(4), e1740. https://doi.org/10.1002/mpr.1740
Goines, K. B., LoPilato, A. M., Addington, J., Bearden, C. E., Cadenhead, K. S., Cannon, T. D., Cornblatt, B. A., Mathalon, D. H., McGlashan, T. H., Perkins, D. O., Tsuang, M. T., Woods, S. W., & Walker, E. F. (2019). Sleep problems and attenuated psychotic symptoms in youth at clinical high-risk for psychosis. Psychiatry Research, 282, 112492. https://doi.org/10.1016/j.psychres.2019.112492
Gur RC, Richard J, Hughett P, Calkins ME, Macy L, Bilker WB, Brensinger C, Gur RE. A cognitive neuroscience-based computerized battery for efficient measurement of individual differences: standardization and initial construct validation. J Neurosci Methods. 2010 Mar 30;187(2):254-62. doi: 10.1016/j.jneumeth.2009.11.017. Epub 2009 Nov 27. PMID: 19945485; PMCID: PMC2832711.
Gur, R. E., Moore, T. M., Calkins, M. E., Ruparel, K., & Gur, R. C. (2017). Face Processing Measures of Social Cognition: A Dimensional Approach to Developmental Psychopathology. Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 2(6), 502–509. https://doi.org/10.1016/j.bpsc.2017.03.010
Hertz, G., Cataletto, M., Feinsilver, S. H., & Angulo, M. (1995). Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: The role of obesity. American Journal of Medical Genetics, 56(2), 188–190. https://doi.org/10.1002/ajmg.1320560215
Holland, A., Whittington, J., & Hinton, E. (2003). The paradox of Prader-Willi syndrome: A genetic model of starvation. The Lancet, 362(9388), 989–991. https://doi.org/10.1016/S0140-6736(03)14370-X
Hyde C, Pizzano M, McDonald NM, Nelson CA 3rd, Kasari C, Thiele EA, Jeste SS. A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. J Neurodev Disord. 2020 Jan 22;12(1):3. doi: 10.1186/s11689-019-9302-0. PMID: 31969108; PMCID: PMC6977334.
Karcher NR, Barch DM, Avenevoli S, et al. Assessment of the Prodromal Questionnaire-Brief Child Version for Measurement of Self-reported Psychoticlike Experiences in Childhood. JAMA Psychiatry. 2018;75(8):853-861. doi:10.1001/jamapsychiatry.2018.1334
Key, A. P., Jones, D., & Dykens, E. M. (2013). Social and emotional processing in Prader-Willi syndrome: Genetic subtype differences. Journal of Neurodevelopmental Disorders, 5(1), 7. https://doi.org/10.1186/1866-1955-5-7
Larson, F. V., Whittington, J., Webb, T., & Holland, A. J. (2014). A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype. Psychological Medicine, 44(11), 2431–2435. https://doi.org/10.1017/S0033291713002961
List, M., Hauschild, A.-C., Tan, Q., Kruse, T. A., Baumbach, J., & Batra, R. (2014). Classification of Breast Cancer Subtypes by combining Gene Expression and DNA Methylation Data. Journal of Integrative Bioinformatics, 11(2), 1–14. https://doi.org/10.1515/jib-2014-236
Loewy, R. L., Pearson, R., Vinogradov, S., Bearden, C. E., & Cannon, T. D. (2011). Psychosis risk screening with the Prodromal Questionnaire—Brief version (PQ-B). Schizophrenia Research, 129(1), 42–46. https://doi.org/10.1016/j.schres.2011.03.029
Lunsford-Avery, J. R., LeBourgeois, M. K., Gupta, T., & Mittal, V. A. (2015). Actigraphic-measured sleep disturbance predicts increased positive symptoms in adolescents at ultra high-risk for psychosis: A longitudinal study. Schizophrenia Research, 164(1), 15–20. https://doi.org/10.1016/j.schres.2015.03.013
Lunsford-Avery, J. R., Orr, J. M., Gupta, T., Pelletier-Baldelli, A., Dean, D. J., Smith Watts, A. K., Bernard, J., Millman, Z. B., & Mittal, V. A. (2013). Sleep dysfunction and thalamic abnormalities in adolescents at ultra high-risk for psychosis. Schizophrenia Research, 151(1), 148–153. https://doi.org/10.1016/j.schres.2013.09.015
Marshall, C., Howrigan, D., Merico, D. et al. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. Nat Genet 49, 27–35 (2017). https://doi.org/10.1038/ng.3725
Moore, T. M., Reise, S. P., Gur, R. E., Hakonarson, H., & Gur, R. C. (2015). Psychometric properties of the Penn Computerized Neurocognitive Battery. Neuropsychology, 29(2), 235–246. https://doi.org/10.1037/neu0000093
Poe, S.-L., Brucato, G., Bruno, N., Arndt, L. Y., Ben-David, S., Gill, K. E., Colibazzi, T., Kantrowitz, J. T., Corcoran, C. M., & Girgis, R. R. (2017). Sleep disturbances in individuals at clinical high risk for psychosis. Psychiatry Research, 249, 240–243. https://doi.org/10.1016/j.psychres.2016.12.029
Salles, J., Lacassagne, E., Benvegnu, G., Berthoumieu, S. Ç., Franchitto, N., & Tauber, M. (2020). The RDoC approach for translational psychiatry: Could a genetic disorder with psychiatric symptoms help fill the matrix? the example of Prader–Willi syndrome. Translational Psychiatry, 10. https://doi.org/10.1038/s41398-020-00964-6
Swaab, D. F., Purba, J. S., & Hofman, M. A. (1995). Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: A study of five cases. The Journal of Clinical Endocrinology and Metabolism, 80(2), 573–579. https://doi.org/10.1210/jcem.80.2.7852523
Tam, G. W. C., Redon, R., Carter, N. P., & Grant, S. G. N. (2009). The role of DNA copy number variation in schizophrenia. Biological Psychiatry, 66(11), 1005–1012. https://doi.org/10.1016/j.biopsych.2009.07.027
Torrado, M., Araoz, V., Baialardo, E., Abraldes, K., Mazza, C., Krochik, G., Ozuna, B., Leske, V., Caino, S., Fano, V., & Chertkoff, L. (2007). Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): An interdisciplinary study. American Journal of Medical Genetics Part A, 143A(5), 460–468. https://doi.org/10.1002/ajmg.a.31520
Vgontzas, A. N., Kales, A., Seip, J., Mascari, M. J., Bixler, E. O., Myers, D. C., Vela‐Bueno, A., & Rogan, P. K. (1996). Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome. American Journal of Medical Genetics, 67(5), 478–482. https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G
Webb, T., Whittington, J., Clarke, D., Boer, H., Butler, J., & Holland, A. (2002). A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS. Clinical Genetics, 62(4), 273–281. https://doi.org/10.1034/j.1399-0004.2002.620404.x
Whitman, B. Y., & Cataletto, M. E. (2019). Prader-Willi Syndrome. In J. A. Accardo (Ed.), Sleep in Children with Neurodevelopmental Disabilities: An Evidence-Based Guide (pp. 195–201). Springer International Publishing. https://doi.org/10.1007/978-3-319-98414-8_16
Whittington, J., & Holland, A. (2017). Cognition in people with Prader-Willi syndrome: Insights into genetic influences on cognitive and social development. Neuroscience & Biobehavioral Reviews, 72, 153–167. https://doi.org/10.1016/j.neubiorev.2016.09.013
Xu, X., Xia, L., Zhang, Q., Wu, S., Wu, M., & Liu, H. (2020). The ability of different imputation methods for missing values in mental measurement questionnaires. BMC Medical Research Methodology, 20(1), 42. https://doi.org/10.1186/s12874-020-00932-0
Yang, L., Zhan, G., Ding, J., Wang, H., Ma, D., Huang, G., & Zhou, W. (2013). Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects—A meta analysis. PloS One, 8(8), e72640. https://doi.org/10.1371/journal.pone.0072640
Yi, J. J., Weinberger, R., Moore, T. M., Calkins, M. E., Guri, Y., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. E., Gothelf, D., & Gur, R. C. (2016). Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts. Brain and Cognition, 106, 33–41. https://doi.org/10.1016/j.bandc.2016.02.002
Zanini, M. A., Castro, J., Cunha, G. R., Asevedo, E., Pan, P. M., Bittencourt, L., Coelho, F. M., Tufik, S., Gadelha, A., Bressan, R. A., & Brietzke, E. (2015). Abnormalities in sleep patterns in individuals at risk for psychosis and bipolar disorder. Schizophrenia Research, 169(1), 262–267. https://doi.org/10.1016/j.schres.2015.08.023