Pediatricians Properly Detect Autism Spectrum Disorder; Less Accurate for No ASD

The diagnostic accuracy of pediatricians is higher when diagnosing children with ASD than when ruling out suspected ASD.

General pediatricians who felt confident in their diagnosis of a child with autism spectrum disorder (ASD) find this diagnosis in agreement with a diagnosis from a multidisciplinary team (MDT) with a high degree of accuracy. However, when pediatricians rule out suspected ASD, they have lower accuracy measured against the MDT. The findings of this study were published in the Journal of the American Medical Association Open.

Investigators sought to determine the diagnostic accuracy of general pediatricians evaluating possible ASD vs the diagnostic assessment of an MDT. The main endpoints included sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV).

They initiated a prospective diagnostic study from June 2016 to March 2020 in general pediatrician practices in Ontario, Canada and in a specialist assessment center in Toronto, Ontario.

They included 17 pediatricians (12 women) who participated in the study. Pediatrician exclusion criteria included completion of subspecialty training in developmental pediatrics, and not receiving at least 1 referral per month for a child with possible ASD. Among the pediatricians, 4 spent 10 or more years in practice, 6 had extra training in child development, and 8 had a wait time of at least 5 weeks from referral to first appointment.

We found a high PPV for children assessed as having ASD by pediatricians, indicating that pediatricians should diagnose ASD when they feel certain.

Overall, pediatricians evaluated 106 children (75% boys; mean age 41.9±13.3 months) who were consecutive patients, maximum 10 patients per pediatrician. Inclusion criteria included:

  • Children referred with a developmental concern (failed 18-month developmental screen [not isolated motor delay]);      
  • Social or emotional concern;       
  • Speech or language delay;      
  • Hyperactivity, inattention, behavioral, or impulsivity concerns;
  • Global developmental delay without an existing ASD diagnosis; and      
  • Being less than 5.5 years of age.

Of the 106 referred children, 60 participants were minoritized ethnic and racial groups.

All children were randomly assigned to a group who had their MDT visits before their pediatrician assessment or to a group who had their MDT visits after their pediatrician assessment. Among these children, the most common reasons for referral (more than 1 option could be selected) included a specific question of ASD (58 children), communication concerns (41), and behavioral and emotional concerns (24). Overall, 72 children were diagnosed with ASD by the MDT.  

When the pediatrician thought ASD was present, the MDT agreed 89% of the time (pediatrician assessments PPV, 0.89; 95% CI, 0.80-0.94). When the pediatrician thought ASD was not present, the MDT agreed 60% of the time (pediatrician assessments NPV, 0.60; 95% CI, 0.49-0.70).

Sensitivity and specificity of pediatrician assessments vs MDT were 0.75; 95% CI, 0.67-0.83 and 0.79; 95% CI, 0.62-0.91, respectively. Increased diagnostic accuracy for children with ASD was associated with higher pediatrician certainty (odds ratio [OR], 3.33; 95% CI, 1.71-7.34; P =.001). Investigators noted lower accuracy for children with higher visual reception subscale developmental skills (OR, 0.93; 95% CI, 0.89-0.97; P =.001); White race (OR, 0.32; 95% CI, 0.10-0.97; P =.04); and speaking abilities (OR, 0.17; 95% CI, 0.03-0.67; P =.03).

Autism Diagnostic Observation Schedule, 2nd Edition composite scores, age, and sex had no significant association with the accuracy of assessments. Investigators noted an accurate diagnosis was conferred upon all 7 children with a sibling with ASD. There were no other significant factors identified for accuracy among children without ASD.

Study limitations included self-selection of participating pediatricians leading to participation bias, underpowered sample size of pediatricians, inability to calculate random effects, only very young children included, nonverbal intelligence quotient measured by proxy only, and the high proportion of children with ASD limited ability to identify accuracy-related factors in children without ASD.

Investigators concluded “The concordance between pediatrician diagnosis of ASD and that of an expert team was high, but when ruling out ASD, the concordance was lower; additionally, children with co-occurring delays are potential candidates for community assessment.” They wrote “We found a high PPV for children assessed as having ASD by pediatricians, indicating that pediatricians should diagnose ASD when they feel certain.” They urge caution before pediatricians rule out ASD.

Disclosure: Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors’ disclosures.

This article originally appeared on Psychiatry Advisor


Penner M, Senman L, Andoni L, et al. Concordance of diagnosis of autism spectrum disorder made by pediatricians vs a multidisciplinary specialist team. JAMA Netw Open. Published online January 3, 2023. doi:10.1001/jamanetworkopen.2022.52879