Diagnosticians report that autism spectrum disorder (ASD) is immediately apparent in some, but not all, children ultimately diagnosed. Clinicians' initial diagnostic impressions have implications for ASD early detection, yet the literature raises questions about their accuracy. This study explores diagnostic impressions of ASD specialists made within the first 5 minutes of meeting a young child and investigates factors associated with the match between initial impressions and final diagnoses. Participants were children (n = 294, aged 12–53 months) referred for an ASD evaluation as part of multi‐site ASD screening studies. After 5 minutes observing each child, clinicians with expertise diagnosing ASD recorded if they thought the child would meet criteria for ASD following a complete evaluation, and recorded their confidence in this impression. Clinicians' initial impressions matched the final diagnosis in 81% of cases. Ninety‐two percent of cases initially thought to have ASD met criteria following a full evaluation; however, 24% of cases initially thought not to have ASD also met criteria, suggesting a high miss rate. Clinicians were generally confident in their initial impressions, reporting highest confidence for children initially thought correctly not to have ASD. ASD behavioral presentation, but not demographic characteristics or developmental level, were associated with matching initial impression and final diagnosis, and confidence. Brief observations indicating ASD should trigger referral to intervention services, but are likely to under‐detect positive cases and should not be used to rule out ASD, highlighting the need to incorporate information beyond initial clinical impression.
Lay Summary
When children come in for an autism evaluation, clinicians often form early impressions—before doing any formal testing—about whether the child has autism. We studied how often these early impressions match the final diagnosis, and found that clinicians could not easily rule out autism (many children who initially appeared not to have autism were ultimately diagnosed), but were generally accurate ruling in autism (when a child appeared to have autism within 5 minutes, they were almost always so diagnosed).
Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.
The death of a spouse is a complicated experience in a family. Understanding the circumstances of the loss is part of the family's healing process. The current qualitative phenomenological study builds on the existing studies by focusing on the lived experience of parents as they transition to single parenthood. Six individuals participated in this study. Data analysis revealed 5 themes related to the change to single parenting after the loss of the spouse including the need to revision the parenting role and the role of support. The study has implications for the design of interventions and groups following the death of a spouse.
Early identification is a goal for Creatine Transporter Deficiency (CTD), and will be critical for future treatment. Before the first birthday, half of this sample showed both a significant feeding/weight gain issue, and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
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