Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-mkpzs Total loading time: 0 Render date: 2024-12-26T18:18:08.421Z Has data issue: false hasContentIssue false

Chapter 5 - Autism in Prader-Willi Syndrome

Published online by Cambridge University Press:  26 May 2022

By
Deepan Singh  and
Emily Mozdzer
Edited by
Deepan Singh
Deepan Singh
Affiliation:
Maimonides Medical Center in Brooklyn
Get access

Summary

Comorbid autism spectrum disorder (ASD) is common and commonly missed in patients with PWS. Clinicians can diagnose autism through a brief questionnaire, without any laboratory testing. The latest diagnostic criteria for the diagnosis of ASD is described. Rather than viewing it as another diagnostic “label” for the patients, early recognition and management of comorbid ASD in PWS may have a significant long-term positive impact on the course of the illness. ASD-related language dysfunction can range from the patient being nonverbal all the way to near-normal cognitive and language functioning. Systemic advantages of being diagnosed with ASD are discussed, including entitlement to certain educational and healthcare services as delineated by state and federal governments. Securing these benefits is an important first step for patients. A case of a patient with PWS who also has autism is described to further elucidate the phenomenon of comorbidity. The advantages of therapies including applied behavioral analysis (ABA) as well as psychopharmacologic management are discussed.

Keywords

autismapplied behavioral analysis (ABA)behavioral therapyAsperger’s syndromecomorbidityintellectual disabilityperseveration
Type
Chapter
Information
Neuro-behavioral Manifestations of Prader-Willi Syndrome
A Guide for Clinicians and Caregivers
 , pp. 34 - 40
Publisher: Cambridge University Press
Print publication year: 2022

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Wiśniowiecka-Kowalnik, B, Nowakowska, BA. Genetics and epigenetics of autism spectrum disorder: Current evidence in the field. J Appl Genet 2019;60(1):37–47.CrossRefGoogle ScholarPubMed
Oxelgren, UW, Myrelid, Å, Annerén, G, Ekstam, B, Göransson, C, Holmbom, A, et al. Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: A population-based study. Dev Med Child Neurol 2017;59(3):276–83.CrossRefGoogle ScholarPubMed
Dykens, EM, Roof, E, Hunt-Hawkins, H, Dankner, N, Lee, EB, Shivers, CM, et al. Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. J Neurodev Disord 2017;9:18.CrossRefGoogle ScholarPubMed
Bennett, JA, Germani, T, Haqq, AM, Zwaigenbaum, L. Autism spectrum disorder in Prader-Willi syndrome: A systematic review. Am J Med Genet A 2015;167A(12):2936–44.Google Scholar
Depienne, C, Moreno-De-Luca, D, Heron, D, Bouteiller, D, Gennetier, A, Delorme, R, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 2009;66(4):349–59.CrossRefGoogle ScholarPubMed
Zafeiriou, DI, Ververi, A, Dafoulis, V, Kalyva, E, Vargiami, E. Autism spectrum disorders: The quest for genetic syndromes. Am J Med Genet B Neuropsychiatr Genet 2013;162B(4):327–66.Google ScholarPubMed
Beardsmore, A, Dorman, T, Cooper, SA, Webb, T. Affective psychosis and Prader-Willi syndrome. J Intellect Disabil Res 1998;42 (Pt 6):463–71.Google Scholar
Reddy, LA, Pfeiffer, SI. Behavioral and emotional symptoms of children and adolescents with Prader-Willi syndrome. J Autism Dev Disord 2007;37(5):830–9.CrossRefGoogle ScholarPubMed
Dykens, E, Shah, B. Psychiatric disorders in Prader-Willi syndrome: Epidemiology and management. CNS Drugs 2003;17(3):167–78.CrossRefGoogle ScholarPubMed
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5).Google Scholar
Elsabbagh, M, Divan, G, Koh, Y-J, Kim, YS, Kauchali, S, Marcín, C, et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res 2012;5(3):160–79.Google Scholar
Bittel, DC, Butler, MG. Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005;7(14):1–20.CrossRefGoogle ScholarPubMed
Applied behavior analysis and PWS part 2: The A-B-C’s of Behavior – Prader-Willi Syndrome Association | USA [Internet]. [cited June 22, 2021]. Available from www.pwsausa.org/applied-behavior-analysis-and-pws-part-2-the-a-b-cs-of-behaviorGoogle Scholar
Robins, DL, Fein, D, Barton, ML, Green, JA. The Modified Checklist for Autism in Toddlers: An initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev Disord 2001;31(2):131–44.Google Scholar
Wakefield, AJ, Murch, SH, Anthony, A, Linnell, J, Casson, DM, Malik, M, et al. Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet 1998;351(9103):637–41.CrossRefGoogle ScholarPubMed
Will, E, Hepburn, S. Applied Behavior Analysis for Children with Neurogenetic Disorders. London: Elsevier, 2015, 229–59.CrossRefGoogle Scholar
Giannopoulou, I, Lazaratou, H, Economou, M, Dikeos, D. Converging psychoanalytic and neurobiological understanding of autism: Promise for integrative therapeutic approaches. Psychodyn Psychiatry 2019;47(3):275–90.CrossRefGoogle ScholarPubMed
Mintz, M. Evolution in the understanding of autism spectrum disorder: Historical perspective. Indian J Pediatr 2017;84(1):44–52.Google Scholar
Cohen, D, Raffin, M, Canitano, R, Bodeau, N, Bonnot, O, Périsse, D, et al. Risperidone or aripiprazole in children and adolescents with autism and/or intellectual disability: A Bayesian meta-analysis of efficacy and secondary effects. Res Autism Spectr Disord 2013;7(1):167–75.CrossRefGoogle Scholar
Pramyothin, P, Khaodhiar, L. Metabolic syndrome with the atypical antipsychotics. Curr Opin Endocrinol Diabetes Obes 2010;17(5):460–6.Google Scholar
Grundy, SM, Cleeman, JI, Daniels, SR, Donato, KA, Eckel, RH, Franklin, BA, et al. Diagnosis and management of the metabolic syndrome: An American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation 2005;112(17):2735–52.Google Scholar
Scahill, L, McCracken, JT, King, BH, Rockhill, C, Shah, B, Politte, L, et al. Extended-release guanfacine for hyperactivity in children with autism spectrum disorder. Am J Psychiatry 2015;172(12):1197–1206.Google Scholar
Singh, D, Wakimoto, Y, Filangieri, C, Pinkhasov, A, Angulo, M. Guanfacine extended release for the reduction of aggression, attention-deficit/hyperactivity disorder symptoms, and self-injurious behavior in Prader-Willi syndrome: A retrospective cohort study. J Child Adolesc Psychopharmacol 2019;29(4):313–17.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×