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

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

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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