Prader-Willi Sendromu Olan ve Angelman Sendromu Olan Çocukların Gelişimi ve Psikolojisi
Özet
Referanslar
Angelman, H. (1965). ‘Puppet’children a report on three cases. Developmental Medicine & Child Neurology, 7(6), 681-688.
Bennett, J. A., Germani, T., Haqq, A. M., & Zwaigenbaum, L. (2015). Autism spectrum disorder in Prader–Willi syndrome: a systematic review. American journal of medical genetics Part A, 167(12), 2936-2944.
Bindels‐de Heus, K. G., Mous, S. E., ten Hooven‐Radstaake, M., van Iperen‐Kolk, B. M., Navis, C., Rietman, A. B., ... & de Wit, M. C. Y. (2020). An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. American Journal of Medical Genetics Part A, 182(1), 53-63.
Bird, L. M. (2014). Angelman syndrome: review of clinical and molecular aspects. The application of clinical genetics, 93-104.
Bittel, D. C., & Butler, M. G. (2005). Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert reviews in molecular medicine, 7(14), 1-20.
Bohonowych, J. E., Vrana-Diaz, C. J., Miller, J. L., McCandless, S. E., & Strong, T. V. (2021). Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome Registry. BMC ophthalmology, 21, 1-6.
Bruni, O., Ferri, R., D'Agostino, G., Miano, S., Roccella, M., & Elia, M. (2004). Sleep disturbances in Angelman syndrome: a questionnaire study. Brain and Development, 26(4), 233-240.
Bruni, O., Verrillo, E., Novelli, L., & Ferri, R. (2010). Prader–Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea. Current opinion in pulmonary medicine, 16(6), 568-573.
Butler, M. G. (2006). Management of obesity in Prader–Willi syndrome. Nature Clinical Practice Endocrinology & Metabolism, 2(11), 592-593.
Butler, M. G., Fischer, W., Kibiryeva, N., & Bittel, D. C. (2008). Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome. American Journal of Medical Genetics Part A, 146(7), 854-860.
Butler, M. G., & Meaney, F. J. (1991). Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics, 88(4), 853-860.
Butler, M. G., Sturich, J., Myers, S. E., Gold, J. A., Kimonis, V., & Driscoll, D. J. (2009). Is gestation in Prader-Willi syndrome affected by the genetic subtype?. Journal of assisted reproduction and genetics, 26, 461-466.
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012). Prader-willi syndrome. Genetics in medicine, 14(1), 10-26.
Clayton‐Smith, J. (1993). Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. American journal of medical genetics, 46(1), 12-15.
Clayton-Smith, J., & Laan, L. A. E. M. (2003). Angelman syndrome: a review of the clinical and genetic aspects. Journal of medical genetics, 40(2), 87-95.
Dagli, A. I., Mathews, J., & Williams, C. A. Angelman syndrome. 1998 Sep 15 [Updated 2021 Apr 22]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Didden, R., Korzilius, H. P. L. M., Duker, P., & Curfs, L. M. G. (2004). Communicative functioning in individuals with Angelman syndrome: a comparative study. Disability and Rehabilitation, 26(21-22), 1263-1267.
Down, J. L. (1887). On some of the mental affections of childhood and youth. J. & A. Churchill.
Driscoll D.J., Miller J.L., & Cassidy S.B. Prader-Willi Syndrome. 1998 Oct 6 [Updated 2023 Mar 9]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Festen, D. A. M., De Weerd, A. W., Van Den Bossche, R. A. S., Joosten, K., Hoeve, H., & Hokken-Koelega, A. C. S. (2006). Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. The Journal of Clinical Endocrinology & Metabolism, 91(12), 4911-4915.
Fryburg, J. S., Breg, W. R., & Lindgren, V. (1991). Diagnosis of Angelman syndrome in infants. American journal of medical genetics, 38(1), 58-64.
Gillessen-Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., & Horsthemke, B. (1999). A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. European Journal of Human Genetics, 7(6), 638-644.
Gillett, E. S., & Perez, I. A. (2016). Disorders of sleep and ventilatory control in Prader-Willi syndrome. Diseases, 4(3), 23.
Glassman, L. W., Grocott, O. R., Kunz, P. A., Larson, A. M., Zella, G., Ganguli, K., & Thibert, R. L. (2017). Prevalence of gastrointestinal symptoms in Angelman syndrome. American Journal of Medical Genetics Part A, 173(10), 2703-2709.
Glenn, C. C., Driscoll, D. J., Yang, T. P., & Nicholls, R. D. (1997). Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Molecular human reproduction, 3(4), 321-332.
Gross, R. D., Gisser, R., Cherpes, G., Hartman, K., & Maheshwary, R. (2017). Subclinical dysphagia in persons with Prader–Willi syndrome. American Journal of Medical Genetics Part A, 173(2), 384-394.
Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., & Cassidy, S. B. (2001). The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics, 108(5), e92-e92.
Hart, H. (2008). 'Puppet'children. A report on three cases (1965). Developmental Medicine and Child Neurology, 50(8), 564.
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993). Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics, 91(2), 398-402.
Ishii, A., Ihara, H., Ogata, H., Sayama, M., Gito, M., Murakami, N., ... & Nagai, T. (2017). Autistic, aberrant, and food-related behaviors in adolescents and young adults with Prader-Willi syndrome: the effects of age and genotype. Behavioural Neurology, 2017.
Khan, N., Cabo, R., Tan, W. H., Tayag, R., & Bird, L. M. (2019). Healthcare burden among individuals with Angelman syndrome: findings from the Angelman Syndrome Natural History Study. Molecular Genetics & Genomic Medicine, 7(7), e00734.
Kishino, T., Lalande, M., & Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nature genetics, 15(1), 70-73.
Knoll, J. H., Nicholls, R. D., Magenis, R. E., Graham Jr, J. M., Lalande, M., Latt, S. A., ... & Reynolds, J. F. (1989). Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American journal of medical genetics, 32(2), 285-290.
Kokkonen, H., & Leisti, J. (2000). An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del (15)(q11q13) in a Finnish family. Human genetics, 107, 83-85.
Larson, A. M., Shinnick, J. E., Shaaya, E. A., Thiele, E. A., & Thibert, R. L. (2015). Angelman syndrome in adulthood. American Journal of Medical Genetics Part A, 167(2), 331-344.
Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981). Deletions of chromosome 15 as a cause of the Prader–Willi syndrome. New England Journal of Medicine, 304(6), 325-329.
Lossie, A. C., Whitney, M. M., Amidon, D., Dong, H. J., Chen, P., Theriaque, D., ... & Driscoll, D. J. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of medical genetics, 38(12), 834-845.
Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S., LaFranchi, S., Opitz, J. M., ... & Ledbetter, D. H. (1987). Is angelman syndrome an alternate result of del (15)(qllql3)?. American journal of medical genetics, 28(4), 829-838.
Mahgoub, N. A. (2007). Prader-willi syndrome. The Journal of neuropsychiatry and clinical neurosciences, 19(2), 203-204.
McCandless, S. E., & Cassidy, S. B. (2021). PRADER–WILLI SYNDROME. Cassidy and Allanson's Management of Genetic Syndromes, 735-761.
McCandless, S. E., & Committee on Genetics. (2011). Health supervision for children with Prader-Willi syndrome. Pediatrics, 127(1), 195-204.
Mertz, L. G. B., Christensen, R., Vogel, I., Hertz, J. M., Nielsen, K. B., Grønskov, K., & Østergaard, J. R. (2013). Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. American Journal of Medical Genetics Part A, 161(9), 2197-2203.
Mertz, L. G. B., Thaulov, P., Trillingsgaard, A., Christensen, R., Vogel, I., Hertz, J. M., & Østergaard, J. R. (2014). Neurodevelopmental outcome in Angelman syndrome: genotype–phenotype correlations. Research in Developmental Disabilities, 35(7), 1742-1747.
Miller, J. L., Lynn, C. H., Driscoll, D. C., Goldstone, A. P., Gold, J. A., Kimonis, V., ... & Driscoll, D. J. (2011). Nutritional phases in Prader–Willi syndrome. American journal of medical genetics Part A, 155(5), 1040-1049.
Miller, J., Silverstein, J., Shuster, J., Driscoll, D. J., & Wagner, M. (2006). Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. The Journal of Clinical Endocrinology & Metabolism, 91(2), 413-417.
Nicholls, R. D., Knoll, J. H., Butler, M. G., Karam, S., & Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342(6247), 281-285.
Pearson, E., Wilde, L., Heald, M., Royston, R., & Oliver, C. (2019). Communication in Angelman syndrome: a scoping review. Developmental Medicine & Child Neurology, 61(11), 1266-1274.
Peters, S. U., Goddard‐Finegold, J., Beaudet, A. L., Madduri, N., Turcich, M., & Bacino, C. A. (2004). Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics Part A, 128(2), 110-113.
Prader, A. (1956). Ein syndrom von adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myatonieartigem zustand im neugeborenenalter. Schweiz Med Wochenschr, 86, 1260-1261.
Priano, L., Grugni, G., Miscio, G., Guastamacchia, G., Toffolet, L., Sartorio, A., & Mauro, A. (2006). Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader–Willi syndrome. Sleep medicine, 7(8), 627-633.
Sadhwani, A., Willen, J. M., LaVallee, N., Stepanians, M., Miller, H., Peters, S. U., ... & Tan, W. H. (2019). Maladaptive behaviors in individuals with Angelman syndrome. American Journal of Medical Genetics Part A, 179(6), 983-992.
Salehi, P., Stafford, H. J., Glass, R. P., Leavitt, A., Beck, A. E., McAfee, A., ... & Chen, M. (2017). Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study. Medicine, 96(50).
Scheimann, A. O., Butler, M. G., Gourash, L., Cuffari, C., & Klish, W. (2008). Critical analysis of bariatric procedures in Prader-Willi syndrome. Journal of pediatric gastroenterology and nutrition, 46(1), 80.
Stalker, H. J., & Williams, C. A. (1998). Genetic counseling in Angelman syndrome: the challenges of multiple causes. American journal of medical genetics, 77(1), 54-59.
Stalker, H. J., Williams, C. A., & Wagstaff, J. (1998). Genetic counseling in Angelman syndrome: gonadal mosaicism. American journal of medical genetics, 78(5), 482.
Summers, J. A., Allison, D. B., Lynch, P. S., & Sandier, L. (1995). Behaviour problems in Angelman syndrome. Journal of Intellectual Disability Research, 39(2), 97-106.
Summers, J. A., Lynch, P. S., Harris, J. C., Burke, J. C., Allison, D. B., & Sandler, L. (1992). A combined behavioral/pharmacological treatment of sleep-wake schedule disorder in Angelman syndrome. Journal of Developmental & Behavioral Pediatrics, 13(4), 284-287.
Takeshita, E., Murakami, N., Sakuta, R., & Nagai, T. (2013). Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader–willi syndrome. American Journal of Medical Genetics Part A, 161(8), 2052-2055.
Tan, W. H., Bacino, C. A., Skinner, S. A., Anselm, I., Barbieri‐Welge, R., Bauer‐Carlin, A., ... & Bird, L. M. (2011). Angelman syndrome: Mutations influence features in early childhood. American journal of medical genetics Part A, 155(1), 81-90.
Thibert, R. L., Larson, A. M., Hsieh, D. T., Raby, A. R., & Thiele, E. A. (2013). Neurologic manifestations of Angelman syndrome. Pediatric neurology, 48(4), 271-279.
Trillingsgaard, A., & Østergaard, J. R. (2004). Autism in Angelman syndrome: an exploration of comorbidity. Autism, 8(2), 163-174.
Trizno, A. A., Jones, A. S., Carry, P. M., & Georgopoulos, G. (2018). The prevalence and treatment of hip dysplasia in Prader-Willi syndrome (PWS). Journal of Pediatric Orthopaedics, 38(3), e151-e156.
Ütine, G. E., Şimşek-Kiper, P. Ö., & Boduroğlu, K. (2012). Mikrodelesyon sendromları. Small, 42, 51.
Verrotti, A., Cusmai, R., Laino, D., Falsaperla, R., Margari, L., Rizzo, R., ... & Spalice, A. (2015). Long-term outcome of epilepsy in patients with Prader–Willi syndrome. Journal of neurology, 262, 116-123.
Walz, N. C. (2007). Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. Journal of Autism and Developmental Disorders, 37, 940-947.
Walz, N. C., Beebe, D., & Byars, K. (2005). Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems. American Journal on Mental Retardation, 110(4), 243-252.
Whittington, J., & Holland, A. (2010, November). Neurobehavioral phenotype in Prader–Willi syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 4, pp. 438-447).
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.
Wigren, M., & Hansen, S. (2005). ADHD symptoms and insistence on sameness in Prader‐Willi syndrome. Journal of Intellectual Disability Research, 49(6), 449-456.
Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., ... & Wagstaff, J. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. American journal of medical genetics Part A, 140(5), 413-418.
Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(7), 385-395.
Williams, C. A., & Mueller‐Mathews, J. M. (2021). Angelman syndrome. Cassidy and Allanson's Management of Genetic Syndromes, 61-73.
Wolfgram, P. M., Carrel, A. L., & Allen, D. B. (2013). Long-term effects of recombinant human growth hormone therapy in children with Prader–Willi syndrome. Current opinion in pediatrics, 25(4), 509.
Zori, R. T., Hendrickson, J., Woolven, S., Whidden, E. M., Gray, B., & Williams, C. A. (1992). Angelman syndrome: clinical profile. Journal of Child Neurology, 7(3), 270-280.
Referanslar
Angelman, H. (1965). ‘Puppet’children a report on three cases. Developmental Medicine & Child Neurology, 7(6), 681-688.
Bennett, J. A., Germani, T., Haqq, A. M., & Zwaigenbaum, L. (2015). Autism spectrum disorder in Prader–Willi syndrome: a systematic review. American journal of medical genetics Part A, 167(12), 2936-2944.
Bindels‐de Heus, K. G., Mous, S. E., ten Hooven‐Radstaake, M., van Iperen‐Kolk, B. M., Navis, C., Rietman, A. B., ... & de Wit, M. C. Y. (2020). An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. American Journal of Medical Genetics Part A, 182(1), 53-63.
Bird, L. M. (2014). Angelman syndrome: review of clinical and molecular aspects. The application of clinical genetics, 93-104.
Bittel, D. C., & Butler, M. G. (2005). Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert reviews in molecular medicine, 7(14), 1-20.
Bohonowych, J. E., Vrana-Diaz, C. J., Miller, J. L., McCandless, S. E., & Strong, T. V. (2021). Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome Registry. BMC ophthalmology, 21, 1-6.
Bruni, O., Ferri, R., D'Agostino, G., Miano, S., Roccella, M., & Elia, M. (2004). Sleep disturbances in Angelman syndrome: a questionnaire study. Brain and Development, 26(4), 233-240.
Bruni, O., Verrillo, E., Novelli, L., & Ferri, R. (2010). Prader–Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea. Current opinion in pulmonary medicine, 16(6), 568-573.
Butler, M. G. (2006). Management of obesity in Prader–Willi syndrome. Nature Clinical Practice Endocrinology & Metabolism, 2(11), 592-593.
Butler, M. G., Fischer, W., Kibiryeva, N., & Bittel, D. C. (2008). Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome. American Journal of Medical Genetics Part A, 146(7), 854-860.
Butler, M. G., & Meaney, F. J. (1991). Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics, 88(4), 853-860.
Butler, M. G., Sturich, J., Myers, S. E., Gold, J. A., Kimonis, V., & Driscoll, D. J. (2009). Is gestation in Prader-Willi syndrome affected by the genetic subtype?. Journal of assisted reproduction and genetics, 26, 461-466.
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012). Prader-willi syndrome. Genetics in medicine, 14(1), 10-26.
Clayton‐Smith, J. (1993). Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. American journal of medical genetics, 46(1), 12-15.
Clayton-Smith, J., & Laan, L. A. E. M. (2003). Angelman syndrome: a review of the clinical and genetic aspects. Journal of medical genetics, 40(2), 87-95.
Dagli, A. I., Mathews, J., & Williams, C. A. Angelman syndrome. 1998 Sep 15 [Updated 2021 Apr 22]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Didden, R., Korzilius, H. P. L. M., Duker, P., & Curfs, L. M. G. (2004). Communicative functioning in individuals with Angelman syndrome: a comparative study. Disability and Rehabilitation, 26(21-22), 1263-1267.
Down, J. L. (1887). On some of the mental affections of childhood and youth. J. & A. Churchill.
Driscoll D.J., Miller J.L., & Cassidy S.B. Prader-Willi Syndrome. 1998 Oct 6 [Updated 2023 Mar 9]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
Festen, D. A. M., De Weerd, A. W., Van Den Bossche, R. A. S., Joosten, K., Hoeve, H., & Hokken-Koelega, A. C. S. (2006). Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. The Journal of Clinical Endocrinology & Metabolism, 91(12), 4911-4915.
Fryburg, J. S., Breg, W. R., & Lindgren, V. (1991). Diagnosis of Angelman syndrome in infants. American journal of medical genetics, 38(1), 58-64.
Gillessen-Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., & Horsthemke, B. (1999). A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. European Journal of Human Genetics, 7(6), 638-644.
Gillett, E. S., & Perez, I. A. (2016). Disorders of sleep and ventilatory control in Prader-Willi syndrome. Diseases, 4(3), 23.
Glassman, L. W., Grocott, O. R., Kunz, P. A., Larson, A. M., Zella, G., Ganguli, K., & Thibert, R. L. (2017). Prevalence of gastrointestinal symptoms in Angelman syndrome. American Journal of Medical Genetics Part A, 173(10), 2703-2709.
Glenn, C. C., Driscoll, D. J., Yang, T. P., & Nicholls, R. D. (1997). Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Molecular human reproduction, 3(4), 321-332.
Gross, R. D., Gisser, R., Cherpes, G., Hartman, K., & Maheshwary, R. (2017). Subclinical dysphagia in persons with Prader–Willi syndrome. American Journal of Medical Genetics Part A, 173(2), 384-394.
Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., & Cassidy, S. B. (2001). The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics, 108(5), e92-e92.
Hart, H. (2008). 'Puppet'children. A report on three cases (1965). Developmental Medicine and Child Neurology, 50(8), 564.
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993). Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics, 91(2), 398-402.
Ishii, A., Ihara, H., Ogata, H., Sayama, M., Gito, M., Murakami, N., ... & Nagai, T. (2017). Autistic, aberrant, and food-related behaviors in adolescents and young adults with Prader-Willi syndrome: the effects of age and genotype. Behavioural Neurology, 2017.
Khan, N., Cabo, R., Tan, W. H., Tayag, R., & Bird, L. M. (2019). Healthcare burden among individuals with Angelman syndrome: findings from the Angelman Syndrome Natural History Study. Molecular Genetics & Genomic Medicine, 7(7), e00734.
Kishino, T., Lalande, M., & Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nature genetics, 15(1), 70-73.
Knoll, J. H., Nicholls, R. D., Magenis, R. E., Graham Jr, J. M., Lalande, M., Latt, S. A., ... & Reynolds, J. F. (1989). Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American journal of medical genetics, 32(2), 285-290.
Kokkonen, H., & Leisti, J. (2000). An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del (15)(q11q13) in a Finnish family. Human genetics, 107, 83-85.
Larson, A. M., Shinnick, J. E., Shaaya, E. A., Thiele, E. A., & Thibert, R. L. (2015). Angelman syndrome in adulthood. American Journal of Medical Genetics Part A, 167(2), 331-344.
Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981). Deletions of chromosome 15 as a cause of the Prader–Willi syndrome. New England Journal of Medicine, 304(6), 325-329.
Lossie, A. C., Whitney, M. M., Amidon, D., Dong, H. J., Chen, P., Theriaque, D., ... & Driscoll, D. J. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of medical genetics, 38(12), 834-845.
Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S., LaFranchi, S., Opitz, J. M., ... & Ledbetter, D. H. (1987). Is angelman syndrome an alternate result of del (15)(qllql3)?. American journal of medical genetics, 28(4), 829-838.
Mahgoub, N. A. (2007). Prader-willi syndrome. The Journal of neuropsychiatry and clinical neurosciences, 19(2), 203-204.
McCandless, S. E., & Cassidy, S. B. (2021). PRADER–WILLI SYNDROME. Cassidy and Allanson's Management of Genetic Syndromes, 735-761.
McCandless, S. E., & Committee on Genetics. (2011). Health supervision for children with Prader-Willi syndrome. Pediatrics, 127(1), 195-204.
Mertz, L. G. B., Christensen, R., Vogel, I., Hertz, J. M., Nielsen, K. B., Grønskov, K., & Østergaard, J. R. (2013). Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. American Journal of Medical Genetics Part A, 161(9), 2197-2203.
Mertz, L. G. B., Thaulov, P., Trillingsgaard, A., Christensen, R., Vogel, I., Hertz, J. M., & Østergaard, J. R. (2014). Neurodevelopmental outcome in Angelman syndrome: genotype–phenotype correlations. Research in Developmental Disabilities, 35(7), 1742-1747.
Miller, J. L., Lynn, C. H., Driscoll, D. C., Goldstone, A. P., Gold, J. A., Kimonis, V., ... & Driscoll, D. J. (2011). Nutritional phases in Prader–Willi syndrome. American journal of medical genetics Part A, 155(5), 1040-1049.
Miller, J., Silverstein, J., Shuster, J., Driscoll, D. J., & Wagner, M. (2006). Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. The Journal of Clinical Endocrinology & Metabolism, 91(2), 413-417.
Nicholls, R. D., Knoll, J. H., Butler, M. G., Karam, S., & Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342(6247), 281-285.
Pearson, E., Wilde, L., Heald, M., Royston, R., & Oliver, C. (2019). Communication in Angelman syndrome: a scoping review. Developmental Medicine & Child Neurology, 61(11), 1266-1274.
Peters, S. U., Goddard‐Finegold, J., Beaudet, A. L., Madduri, N., Turcich, M., & Bacino, C. A. (2004). Cognitive and adaptive behavior profiles of children with Angelman syndrome. American Journal of Medical Genetics Part A, 128(2), 110-113.
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