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The Psychiatric Phenotype in Prader-Willi Syndrome

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Management of Prader-Willi Syndrome

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Abstract

Prader-Willi syndrome (PWS) is caused by the loss of expression of contiguous genes both inside and outside the imprinted region on ch15q11-13. Gene expression is related to the genetic subtype caused by deletion (DEL), maternal uniparental disomy (UPD) 15, or an imprinting center (IC) defect. In typical persons, the many aspects of genomic imprinting play a major role throughout development. The most sensitive periods for expression of imprinted genes are the stages of greatest change in the central and peripheral nervous systems during fetal development and infancy. The loss of expression of imprinted genes on ch15 creates a specific genetic blueprint that interacts with the normal processes of growth and development to produce the multiphasic behavioral phenotype of PWS. A developmental perspective is essential to capture the many facets of the neuropsychiatric phenotype in PWS. This chapter covers (1) an introduction to brain difference in PWS; (2) a literature review of studies defining the behavioral phenotype; (3) a psychiatric evaluation, neurodevelopmental case formulation, and differential diagnosis; and (4) a descriptive narrative of psychiatric diagnoses as they appear across developmental stages from early childhood through senescence. A comprehensive literature review and extensive clinical experience with infants, children, adolescents, and adults with PWS and their parents have informed the data-based concepts presented in this chapter.

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  1. The Pittsburgh Partnership, Pittsburgh, PA, USA

    Janice L. Forster

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  1. Janice L. Forster
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  1. Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA

    Merlin G. Butler

  2. Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA

    Phillip D. K. Lee

  3. Department of Pediatrics, Saint Louis University, St. Louis, MO, USA

    Barbara Y. Whitman

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Forster, J.L. (2022). The Psychiatric Phenotype in Prader-Willi Syndrome. In: Butler, M.G., Lee, P.D.K., Whitman, B.Y. (eds) Management of Prader-Willi Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-98171-6_23

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