598 - Examining the utility of the Ages and Stages Questionnaire as a developmental screening tool in survivors of congenital heart disease

Publication Number: 3579.598

Sadori Khawaja, University of Texas Southwestern Medical School, DALLAS, TX, United States; Corinne M.. Anton, University of Texas Southwestern Medical School, Dallas, TX, United States; Ayse Culfik Kademoglu, University of Texas Southwestern Medical School, Dallas, TX, United States; Rachel L.. Leon, University of Texas Southwestern Medical School, Dallas, TX, United States

Background: Improved medical and surgical care have increased the number of children surviving with congenital heart disease (CHD). However, these children have multiple risk factors for neurodevelopmental delays and impairments (NDD/NDI) and require regular evaluations. The current gold standard, Bayley Scales of Infant and Toddler Development (Bayley), is a labor-intensive diagnostic test requiring trained professionals, and data suggest that a minority of CHD patients complete these recommended evaluations. The Ages and Stages Questionnaire (ASQ) is a widely used screening tool in general pediatric clinics, but its accuracy in survivors of critical CHD has not been assessed.

Objective: The objective of this study was to describe trends in ASQ results among four common critical CHD diagnoses-hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), tetralogy of Fallot (TOF), and double-outlet right ventricle (DORV). We also sought to determine the performance of the ASQ as a screening tool for NDD/NDI compared to diagnostic Bayley testing.

Design/Methods: In this retrospective, single-center cohort study spanning 2016-2025, we assessed the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of ASQ screening at various ages compared to Bayley testing performed at 6 months to 3.5 years. For the purposes of analysis, both at risk and delayed results on ASQ were treated as a positive screen. Bayley composite scores of < 85 were considered diagnostic.

Results: A total of 521 patients with HLHS(n=157), TGA(n=78), TOF(n=185), and DORV (n=101) had at least one ASQ(Table1). Across diagnoses, patients under 1 year were noted to have the highest proportion of positive results on the ASQ questionnaire, and at least 25% of ASQ questionnaires were categorized as delayed across age ranges (Fig1). Only 132 of 521 patients had completed Bayley assessment. ASQ screening in the motor domain consistently performed best across the CHD diagnoses analyzed with higher sensitivity (76-96%), but low specificity (15-52%). ASQ screening did not perform as well in cognitive or language domains with only moderate sensitivity and specificity ranging 50-78%(Fig2).

Conclusion(s): In survivors of HLHS, TGA, TOF, and DORV, the ASQ may not be a reliable neurodevelopmental screening tool as its sensitivity falls below 75% except in the motor domain. Modifications to the ASQ or its thresholds for recommending further evaluation may be required to capture delays in infants and children with complex CHD, given their high risk of NDD/NDI.

Demographic Characteristics of Patients by Congenital Heart Defect
This table summarizes baseline characteristics for infants and toddlers with tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS), double outlet right ventricle (DORV), and transposition of the great arteries (TGA), as well as the combined cohort ("All patients")

ASQ Screening Results by Cardiac Diagnosis
Stacked 100% bar plots show the proportion of patients categorized as Age Appropriate (green), At Risk (yellow), or Delayed (red) within each age band (3-6 months through 31-36 months) for four congenital heart disease (CHD) diagnoses: (A) hypoplastic left heart syndrome (HLHS), (B) transposition of the great arteries (TGA), (C) tetralogy of Fallot (TOF), and (D) double outlet right ventricle (DORV). Each bar represents one age band; numbers inside segments indicate the number of patients in that category at that age. The y-axis reflects percent of patients within that diagnosis and age group.

Screening performance of ASQ-3 for neurodevelopmental delay by cardiac diagnosis and domain.
This figure summarizes the diagnostic test characteristics of the ASQ-3 for detecting below-age developmental performance on Bayley-III in three domains: Cognitive, Motor (Gross and Fine Motor), and Language. Results are shown separately for (A) hypoplastic left heart syndrome (HLHS), (B) transposition of the great arteries (TGA), (C) tetralogy of Fallot (TOF), and (D) double outlet right ventricle (DORV). Within each domain, point estimates and 95% confidence intervals are displayed for sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and overall accuracy. Vertical dashed lines at 50% aid visual comparison to chance-level classification.