Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. ASD is considered to be a multifactorial disorder, risk of which can be elevated by various hereditary causes ranging from copy number variants to monogenic disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder that is thought to be the most common inherited cause of intellectual disability and the most common monogenic cause of ASD. This chapter highlights the phenotypic, neuroanatomical, and pathophysiological similarities and differences between idiopathic ASD and ASD as the result of a known genetic syndrome and ways in which clinicians can diagnose and manage these disorders.
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References
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM 5. 5th ed. Arlington: American Psychiatric Association; 2013.
Lee M, Martin GE, Berry-Kravis E, Losh M. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. J Neurodev Disord. 2016; https://doi.org/10.1186/s11689-016-9179-0.
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.
American Academy of Child and Adolescent Psychiatry. Practice parameters for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014;53(2):237–57.
Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, et al. Fragile X targeted pharmacotherapy: lessons learned and future directions. J Neurodev Disord. 2017; https://doi.org/10.1186/s11689-017-9186-9.
Bagni C, Oostra BA. Fragile X syndrome: from protein function to therapy. Am J Med Genet. 2013;161A(11):2809–21.
Belmonte MK, Bourgeron T. Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci. 2006;9(10):1221–5.
Schaefer TL, Davenport MH, Grainger LM, Robinson CK, Earnheart AT, Stegman MS, et al. Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor activity and anxiety. J Neurodev Disord. 2017; https://doi.org/10.1186/s11689-017-9184-y.
Hazlett HC, Poe MD, Lightbody AA, Styner M, MacFall JR, Reiss AL, et al. Trajectories of early brain volume development in fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry. 2012;51(9):921–33.
Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufman WE, Cherubini M, et al. Arbaclofen in fragile X syndrome: results of phase 3 trials. J Neurodev Disord. 2017; https://doi.org/10.1186/s11689-016-9181-6.
Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, et al. Updated report on tools to measure outcomes of clinical trials in fragile X syndrome. J Neurodev Disord. 2017; https://doi.org/10.1186/s11689-017-9193-x.
Hoover DW. The effects of psychological trauma on children with autism spectrum disorders: a research review. Rev J Autism Dev Disord. 2015;2:287–99.
Roberts JE, Miranda M, Boccia M, Janes H, Tonnsen BL, Hatton DD. Treatment effects of stimulant medication in young boys with fragile X syndrome. J Neurodev Disord. 2011;3(3):175–84.
Rueda JR, Ballesteros J, Tejada MI. Systematic review of pharmacological treatments in fragile X syndrome. BMC Neurol. 2009;9:53.
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Simberlund, J., Veenstra-VanderWeele, J. (2019). Fragile X: Autism in the Setting of a Known Genetic Syndrome. In: Hauptman, A., Salpekar, J. (eds) Pediatric Neuropsychiatry. Springer, Cham. https://doi.org/10.1007/978-3-319-94998-7_7
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DOI: https://doi.org/10.1007/978-3-319-94998-7_7
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