Autism common comorbidity of genetic disorders

Recent findings presented at the American Academy of Neurology annual meeting indicated autism spectrum disorders are a common comorbidity of genetic disorders, typically diagnosed several years after genetic disorders.

“The association between autism spectrum disorders and common genetic syndromes is established. The timing for ASD diagnosis relative to the diagnosis of the genetic disorder has not been described,” Rahe Hiraldo Delgado, MD, of Walter Reed National Military Medical Center, Bethesda, Maryland, and colleagues wrote.

To determine prevalence of ASD in children with genetic syndromes, researchers conducted a retrospective case-cohort study of children aged 2 to 18 years with an ICD-9 diagnosis code for ASD who participated in a military health system database from October 2000 to September 2013. Of the 112,862 children included, 13.1% were diagnosed with ASD, 1.3% were diagnosed with a genetic disorder and 4.76% were diagnosed with ASD and a genetic disorder.

Median age at ASD diagnosis for children with any underlying genetic syndrome was 3.68 years, compared with 3.81 years among children without a genetic syndrome.

Genetic diagnosis significantly preceded ASD diagnosis by 0.9 to 2.9 years among children with tuberous sclerosis (P = .005), Down syndrome (P < .001), Patau’s syndrome (P = .01), Klinefelter’s syndrome (P = .008), Angelman’s syndrome (P < .001) and Marfan’s syndrome (P = .01).

Fragile X syndrome (OR = 32.78; 95% CI, 18.81-57.16), cri du chat (OR = 17.27; 95% CI, 3.75-79.53) and Patau’s syndrome (OR = 15.58; 95% CI, 6.3-38.55) were the most significantly associated with ASD.

“ASD is a common comorbidity amongst several genetic syndromes, typically diagnosed years after the genetic diagnosis is made, particularly in genetic syndromes with characteristic physical exam findings,” the researchers concluded. – by Amanda Oldt

Reference:

Hiraldo-Delgado R, et al. Prevalence and relative timing of autism diagnosis in children with common pediatric genetic disorders. Presented at: American Academy of Neurology Annual Meeting; April 15-21, 2016; Vancouver, British Columbia.

Disclosure: Hiraldo-Delgado and colleagues report no relevant financial disclosures.