New Study Could Lead to Identifying Signs of Autism in Boys as Young as 1 or 2

A new study by researchers at the University of California at San Diego School of Medicine may lead to the development of a blood test that can identify autism spectrum disorder (ASD) in boys as young as one or two years of age. The findings were published online on March 4, 2015 in the journal JAMA Psychiatry.

The authors explain that the identification of genetic factors that can help identify young children at risk for ASD remains a major challenge because of significant differences in these factors and outward expressions of the disorder. According to the American Academy of Pediatrics, the prevalence of autism spectrum disorders (ASDs) is about 1% of US children.  Usually, ASD is not diagnosed before the age of four or five. Therefore, the investigators attempted to identify genetic factors that would be able to determine whether an infant or toddler was likely to develop ASD.

The study group comprised male infants and toddlers ranging in age from 1 to 4 years. Subjects suitable for enrollment had undergone a 1-Year Well-Baby Check-Up Approach, which involves a healthcare professional completing a checklist pertaining to ASD risk. Children who had positive ASD signs were compared to those who did not. The children with signs of ASD were also compared to toddlers with developmental or language delay.

After statistical analysis of the data, the researchers determined genetic biomarkers—or signatures—that were 83% accurate for predicting ASD. Using half the patients and a different analysis method, the correct diagnosis of ASD was made 75% of the time. The genetic signature did not distinguish between children with a developmental language delay and normal children.

The authors concluded that their study had determined that genetic biomarkers had been determined that could accurately predict young boys at risk for ASD. This study is important because earlier diagnosis of ASD results in earlier aggressive treatment that can significantly benefit the affected child. Because of its accuracy, the test would also reduce the risk of an incorrect ASD diagnosis. Further studies will be necessary to confirm and refine the findings of this study; thus, determination of a date when it will be available for use by healthcare professionals in the clinical setting cannot be made at this time.

According to UCLA Health System, children with ASD appear to live in their own world; they have a lack of social awareness and interest in others. At present, preventive measures to reduce the incidence or severity of ASD are unknown. The following are the most common symptoms of ASD; however, each child may experience symptoms differently. Symptoms may include:

  • Does not socially interact well with others, including parents:
  • Shows a lack of interest in, or rejection of physical contact. Parents describe autistic infants as "unaffectionate." Autistic infants and children are not comforted by physical contact.
  • Avoids making eye contact with others, including parents
  • Fails to develop friends or interact with other children
  • Does not communicate well with others:
  • Is delayed or does not develop language
  • Once language is developed, does not use language to communicate with others
  • Has echolalia (repeats words or phrases repeatedly, like an echo)
  • Demonstrates repetitive behaviors such as rocking and hand or finger flapping
  • Is preoccupied, usually with lights, moving objects, or parts of objects
  • Does not like noise
  • Has rituals
  • Requires routines

In the past, the diagnosis of ASD was usually not made until a child was of late preschool-age or older. To aid in the identification of autism in children under 24 months of age, standard guidelines have been developed. These guidelines can aid in the early identification of children with the disorder; the benefit of early diagnosis is earlier, more effective treatment for the disorder. The guidelines recommend that routine screening for ASD and other developmental delays should be conducted before 24 months of age at their well-child examinations. Children that exhibit signs of developmental delays and/or other behavior disorders should undergo additional tests for ASD. According to American Academy of Pediatrics recommendations, all children should be screened for ASD at 18 months and 24 months, regardless of whether any signs are visible or any concerns exist regarding a child’s developmental progress.