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J Pediatr Genet 2021; 10(03): 250-252
DOI: 10.1055/s-0040-1713431
Case Report

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

Brendan E. Karba 
1   Division of Developmental Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada
,
Jean-Francois Lemay
1   Division of Developmental Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada
,
Scott A. McLeod
1   Division of Developmental Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada
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Abstract

We reported on a 3-year-old girl child patient with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case report highlighted the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

Keywords

developmental delay - co-occurring disorders - autism spectrum disorder


Publication History

Received: 24 April 2020

Accepted: 14 May 2020

Article published online:
19 June 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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  • References

  • 1 Hauge X, Raca G, Cooper S. et al. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 2008; 10 (08) 599-611
    CrossrefPubMedGoogle Scholar
  • 2 Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Mol Hum Reprod 2007; 13 (09) 685-689
    CrossrefPubMedGoogle Scholar
  • 3 Thurm A, Farmer C, Salzman E, Lord C, Bishop S. State of the field: differentiating intellectual disability from autism spectrum disorder. Front Psychiatry 2019; 10: 526
    CrossrefPubMedGoogle Scholar
  • 4 Hepburn SL, Moody EJ. Diagnosing autism in individuals with known genetic syndromes: clinical considerations and implications for intervention. Int Rev Res Dev Disabil 2011; 40: 229-259
    CrossrefPubMedGoogle Scholar
  • 5 Esler AN, Bal VH, Guthrie W, Wetherby A, Ellis Weismer S, Lord C. The autism diagnostic observation schedule, toddler module: standardized severity scores. J Autism Dev Disord 2015; 45 (09) 2704-2720
    CrossrefPubMedGoogle Scholar
  • 6 American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition. Arlington, VA: American Psychiatric Association; 2013
    CrossrefGoogle Scholar
  • 7 Bishop S, Gahagan S, Lord C. Re-examining the core features of autism: a comparison of autism spectrum disorder and fetal alcohol spectrum disorder. J Child Psychol Psychiatry 2007; 48 (11) 1111-1121
    CrossrefPubMedGoogle Scholar
  • 8 Chokron S, Kovarski K, Zalla T, Dutton GN. The inter-relationships between cerebral visual impairment, autism and intellectual disability. Neurosci Biobehav Rev 2020; 114: 201-210
    CrossrefPubMedGoogle Scholar
  • 9 Davidovitch M, Levit-Binnun N, Golan D, Manning-Courtney P. Late diagnosis of autism spectrum disorder after initial negative assessment by a multidisciplinary team. J Dev Behav Pediatr 2015; 36 (04) 227-234
    CrossrefPubMedGoogle Scholar