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Chapter 18 - Behavioral phenotypes/genetic syndromes

from Section 4 - Special topics

Published online by Cambridge University Press:  05 March 2016

By
Robert M. Hodapp ,
Nathan A. Dankner  and
Elisabeth M. Dykens
Edited by
Colin Hemmings  and
Nick Bouras
Colin Hemmings
Affiliation:
Albion Place Medical Centre
Nick Bouras
Affiliation:
Institute of Psychiatry, London
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Information
Psychiatric and Behavioral Disorders in Intellectual and Developmental Disabilities , pp. 196 - 206
Publisher: Cambridge University Press
Print publication year: 2016

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References

Abbeduto, L., Warren, S.F., Conners, F.A. (2007). Language development in Down syndrome: from the prelinguistic period to the acquisition of literacy. Mental Retardation and Developmental Disabilities Research Reviews, 13, 247–261.CrossRefGoogle Scholar
Baumgardner, T.L., Reiss, A.L., Freund, L.S., Abrams, M.T. (1995). Specification of the neurobehavioral phenotype in males with Fragile X syndrome. Pediatrics, 95, 744–752.CrossRefGoogle ScholarPubMed
Boer, H., Holland, A., Whittington, J., et al. (2002). Psychotic illness in people with PWS due to chromosome 15 maternal uniparental disomy. Lancet, 359, 135.CrossRefGoogle ScholarPubMed
Bunton, K. and Leddy, M. (2011). An evaluation of articulatory working space area in vowel production of adults with Down syndrome. Clinical Linguistics and Phonetics, 25, 321–334.CrossRefGoogle ScholarPubMed
Cherniske, E.M. Carpenter, T.O., Klaiman, C., et al. (2004). Multisystem study of 20 older adults with Williams syndrome. American Journal of Medical Genetics Part A, 131, 255–264.CrossRefGoogle ScholarPubMed
Clarke, D.J., Boer, H., Whittington, J., et al. (2002). Prader–Willi syndrome, compulsive and ritualistic behaviors: the first population-based study. British Journal of Psychiatry, 180, 358–362.CrossRefGoogle Scholar
Cordeiro, L., Ballinger, E., Hagerman, R., Hessl, D. (2011). Clinical assessment of DSM-IV anxiety disorders in Fragile X syndrome: prevalence and characterization. Journal of Neurodevelopmental Disorders, 3(1), 57–67.CrossRefGoogle ScholarPubMed
Dankner, N. and Dykens, E.M. (2012). Anxiety in intellectual disabilities: challenges and next steps. International Review of Research in Developmental Disabilities, 42, 57–84.CrossRefGoogle Scholar
Descheemaeker, M.J., Vogels, A, Govers, V., et al. (2002). Prader–Willi syndrome: new insights in the behavioural and psychiatric spectrum. Journal of Intellectual Disability Research, 46, 41–50.CrossRefGoogle ScholarPubMed
Descheemaeker, M.J., Govers, V., Vermeulen, P., Fryns, J.-P. (2006). Pervasive developmental disorders in Prader–Willi syndrome: the Leuven experience in 59 subjects and controls. American Journal of Medical Genetics Part A, 140, 1136–1142.CrossRefGoogle ScholarPubMed
Devenny, D. and Matthews, A. (2011). Regression: atypical loss of attained functioning in children and adolescents with Down syndrome. International Review of Research in Developmental Disabilities, 41, 233–264.CrossRefGoogle Scholar
Dimitropoulos, A., Feurer, I.D., Butler, M.G., Thompson, T. (2001). Emergence of compulsive behavior and tantrums in children with Prader–Willi syndrome. American Journal on Mental Retardation, 106, 39–51.2.0.CO;2>CrossRefGoogle ScholarPubMed
Dykens, E.M. (1995). Measuring behavioral phenotypes: provocations from the “new genetics.” American Journal on Mental Retardation, 99, 522–532.Google ScholarPubMed
Dykens, E.M. (2003). Anxiety, fears, and phobias in persons with Williams syndrome. Developmental Neuropsychology, 23, 291–316.CrossRefGoogle ScholarPubMed
Dykens, E.M. (2004). Maladaptive and compulsive behavior in Prader–Willi syndrome: new insights from older adults. American Journal on Mental Retardation, 109, 142–153.2.0.CO;2>CrossRefGoogle ScholarPubMed
Dykens, E.M. (2007). Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13, 272–278.CrossRefGoogle ScholarPubMed
Dykens, E.M. and Clarke, D.J. (1997). Correlates of maladaptive behavior in individuals with 5p-(cri-du-chat) syndrome. Developmental Medicine and Child Neurology, 39, 752–756.Google ScholarPubMed
Dykens, E.M. and Kasari, C. (1997). Maladaptive behavior in children with Prader–Willi syndrome, Down syndrome, and non-specific mental retardation. American Journal on Mental Retardation, 102, 228–237.2.0.CO;2>CrossRefGoogle Scholar
Dykens, E.M. and Roof, E. (2008). Behavior in Prader–Willi syndrome: relationship to genetic subtypes and age. Journal of Child Psychology and Psychiatry, 49, 1001–1008.CrossRefGoogle ScholarPubMed
Dykens, E.M. and Shah, B. (2003). Psychiatric disorders in Prader–Willi syndrome: epidemiology and treatment. CNS Drugs, 17, 167–178.CrossRefGoogle Scholar
Dykens, E.M., Hodapp, R.M., Leckman, J.F. (1987). Strengths and weaknesses in intellectual functioning of males with Fragile X syndrome. American Journal of Mental Deficiency, 92, 234–236.Google ScholarPubMed
Dykens, E.M., Hodapp, R.M., Walsh, K.K., Nash, L. (1992). Adaptive and maladaptive behavior in Prader–Willi syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 31, 1131–1136.CrossRefGoogle ScholarPubMed
Dykens, E.M., Leckman, J.F., Cassidy, S.B. (1996). Obsessions and compulsions in Prader–Willi syndrome. Journal of Child Psychology and Psychiatry, 37, 995–1002.CrossRefGoogle ScholarPubMed
Dykens, E.M., Hodapp, R.M., Finucane, B. (2000). Genetics and Mental Retardation Syndromes: A New Look at Behavior and Treatments. Baltimore, MD: Paul H. Brookes Publishing Company.Google Scholar
Dykens, E.M., Maxwell, M.A., Pantino, E., Kossler, R., Roof, E. (2007). Assessment of hyperphagia in Prader–Willi syndrome. Obesity, 15, 1816–1826.CrossRefGoogle ScholarPubMed
Dykens, E.M., Lee, E., Roof, E. (2011). Prader–Willi syndrome and autism spectrum disorders: an evolving story. Journal of Neurodevelopmental Disorders, 3, 225–237.CrossRefGoogle ScholarPubMed
Dykens, E.M., Shah, B., Davis, B., Baker, C., Fife, T., Fitzpatrick, J. (2015). Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities. Journal of Neurodevelopmental Disorders, 7, 9.CrossRefGoogle Scholar
Einfeld, S.L., Tonge, B.J., Rees, V.W. (2001). Longitudinal course of behavioral and emotional problems in Williams syndrome. American Journal on Mental Retardation, 106(1), 73–81.2.0.CO;2>CrossRefGoogle ScholarPubMed
Fidler, D.J. (ed.) (2011). Early development in neurogenetic disorders. International Review of Research in Developmental Disorders, 40, 1–318.Google Scholar
Finucane, B.R. and Haas-Givler, B. (2009). Smith–Magenis syndrome: genetic basis and clinical implications. Journal of Mental Health Research in Intellectual Disabilities, 2, 134–148.CrossRefGoogle Scholar
Fletcher, R., Loschen, E., Stavrakaki, C. (eds.) (2007). Diagnostic Manual – Intellectual Disability (DM-ID): A Textbook of Diagnosis of Mental Disorders in Persons with Intellectual Disability. Kingston, NY: NADD Press.Google Scholar
Grosse, S.D. (2010). Sociodemographic characteristics of families of children with Down syndrome and the economic impacts of child disability on families. International Review of Research on Mental Retardation, 39, 257–294.CrossRefGoogle Scholar
Hodapp, R.M. (1997). Direct and indirect behavioral effects of different genetic disorders of mental retardation. American Journal on Mental Retardation, 102, 67–79.2.0.CO;2>CrossRefGoogle ScholarPubMed
Hodapp, R.M. and Dykens, E.M. (1994). Mental retardation’s two cultures of behavioral research. American Journal on Mental Retardation, 98, 675–687.Google ScholarPubMed
Hodapp, R.M. and Dykens, E.M. (2012). Genetic disorders of intellectual disability: expanding our concepts of phenotypes and of family outcomes. Journal of Genetic Counseling, 21, 761–769.CrossRefGoogle ScholarPubMed
Hodapp, R.M. and Urbano, R.C. (2008). Demographics of African-American and European-American mothers of newborns with Down syndrome. Journal of Policy and Practice in Intellectual Disabilities, 5, 187–193.CrossRefGoogle Scholar
Hodapp, R.M., Burke, M.M., Urbano, R.C. (2012). What’s age got to do with it? Implications of maternal age on families of offspring with Down syndrome. International Review of Research in Developmental Disabilities, 42, 109–145.CrossRefGoogle Scholar
Hogart, A., Wu, D., LaSalle, J.M., Schanen, C. (2010). The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiology of Disease, 38, 181–191.CrossRefGoogle ScholarPubMed
Holland, A, Whittington, J, Hitton, E, (2003). The paradox of Prader–Willi syndrome: a genetic model of starvation. Lancet, 362, 989–991.CrossRefGoogle ScholarPubMed
Kemper, M.B., Hagerman, R.J., Altshul-Stark, D. (1988). Cognitive profiles of boys with Fragile X syndrome. American Journal of Medical Genetics, 30, 191–200.CrossRefGoogle ScholarPubMed
Leyfer, O.T., Woodruff-Borden, J., Klein-Tasman, B.P., Fricke, J.S., Mervis, C.B. (2006). Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141, 615–622.CrossRefGoogle Scholar
Moskowitz, L.J., Mulder, E., Walsh, C.E., et al. (2013). A multimethod assessment of anxiety and problem behavior in children with autism spectrum disorders and intellectual disability. American Journal on Intellectual and Developmental Disabilities, 116, 419–434.CrossRefGoogle Scholar
Myers, B.A. and Pueschel, S.M. (1991). Psychiatric disorders in persons with Down syndrome. Journal of Nervous and Mental Disease, 179(10), 609–613.CrossRefGoogle ScholarPubMed
Opitz, J.M. (1985). The developmental field concept. American Journal of Medical Genetics, 21(1), 1.CrossRefGoogle ScholarPubMed
Patterson, D. (2009). Molecular genetic analysis of Down syndrome. Human Genetics, 126, 195–214.CrossRefGoogle ScholarPubMed
Porter, H. and Tharpe, A.M. (2010). Hearing loss among persons with Down syndrome. International Review of Research in Mental Retardation, 39, 195–220.CrossRefGoogle Scholar
Prasher, V.P. (2002). Disintegrative syndrome in young adults. Irish Journal of Psychological Medicine, 19(3), 101.CrossRefGoogle ScholarPubMed
Schanen, N.C. (2006). Epigenetics of autism spectrum disorder. Human Molecular Genetics, 15, R138–R150.CrossRefGoogle Scholar
Sharp, A.J., Migliavacca, E., Dupre, Y., et al. (2010). Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20, 1271–1278.CrossRefGoogle ScholarPubMed
Schretlen, D.J., Ward, J., Yun, J., et al. (2005). Behavioral aspects of Lesch–Nyhan disease and its variants. Developmental Medicine and Child Neurology, 47, 673–677.CrossRefGoogle ScholarPubMed
Sigafoos, J., O’Reilly, M.F., Lancioni, G.E. (2009). Editorial: cri-du-chat. Developmental Neurorehabilitation, 12, 119–121.CrossRefGoogle ScholarPubMed
Soni, S., Whittington, J., Holland, A.J., et al. (2007). The course and outcome of psychiatric illness in people with Prader–Willi syndrome: implications for management and treatment. Journal of Intellectual Disability Research, 51, 32–42.CrossRefGoogle ScholarPubMed
Stein, D.S., Munir, K.M., Karweck, A.J., Davidson, E.J., Stein, M.T. (2013). Developmental regression, depression, and psychosocial stress in an adolescent with Down syndrome. Journal of Developmental and Behavioral Pediatrics, 34, 216–218.CrossRefGoogle Scholar
Van Acker, R. (1991). Rett syndrome: a review of current knowledge. Journal of Autism and Developmental Disorders, 21, 381–406.CrossRefGoogle ScholarPubMed
Veltman, M.W., Craig, E.E., Bolton, P.F. (2005). Autism spectrum disorders in Prader–Willi and Angelman syndromes: a systematic review. Psychiatric Genetics, 15, 243–254.CrossRefGoogle ScholarPubMed
Webb, T., Maina, E.N., Soni, S., et al. (2008). In search of the psychosis gene in people with Prader–Willi syndrome. American Journal of Medical Genetics Part A, 146, 843–853.CrossRefGoogle Scholar
Woodruff-Borden, J., Kistler, D.J., Henderson, D.R., Crawford, N.A., Mervis, C.B. (2010). Longitudinal course of anxiety in children and adolescents with Williams syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154, 277–290.CrossRefGoogle Scholar
Worley, G., Crissman, B., Cardogan, E., Kishnani, P. (2013). New onset autistic regression, cognitive decline and insomnia in older children and adolescents with Down syndrome. Presentation to the Down Syndrome Medical Interest Group–USA, Denver, CO.Google Scholar

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