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PurposeDevelopmental assessment is part of a comprehensive autism evaluation. During in-person evaluations, developmental assessment is completed via direct testing by an examiner. In telehealth evaluations, developmental assessment relies on caregiver-report instruments. This study examined correspondence between caregiver report and direct testing of developmental skills.MethodsParticipants were 93 children, aged 18-42 months, undergoing evaluation for possible autism spectrum disorder (ASD). Caregivers were interviewed with the Developmental Profile, 4th edition (DP-4) via telehealth platform and children were tested in person 2-4 weeks later using the Mullen Scales of Early Learning (MSEL).ResultsCorrelations between the DP-4 and MSEL were high (ranging from 0.50 to 0.82) across standard scores, age equivalents, and functional categories, as well as across individual subtests and overall composite scores.ConclusionThe high convergent validity found in this study suggests that the DP-4 provides a suitable proxy for direct developmental testing using the MSEL in the context of telehealth evaluations for ASD in young children, delivering a good estimate of both developmental functioning and presence of delays.Trial registrationData were obtained from registered clinical trial NCT05047224, date of registration 2021-09-07.

PurposeTo compare the utility of single versus repeated autism screening in a sample at higher likelihood (HL) for ASD, following both screen positives and all screen negatives to diagnostic outcome.MethodsUsing a prospective infant sibling design, the current study followed 135 toddlers at HL for ASD and conducted diagnostic evaluations on the full sample at 18, 24, and 36 months. The psychometric properties of the M-CHAT-R using both concurrent and predictive diagnostic evaluations were compared in a group screened once (at 18 months only, n = 60) or twice (at both 18 and 24 months, n = 75). The study also examined consistency in reporting of ASD symptoms across the M-CHAT-R and a developmental concerns interview, comparing the HL group to a group with lower likelihood (LL) for ASD (n = 88).ResultsSensitivity and specificity of the M-CHAT-R were high (75 - 95%), consistent with previous research. Positive predictive value (43 - 76%) was higher in this HL group than in previous community samples. Repeat screening improved sensitivity with little cost to specificity. At both 18 and 24 months, HL parents were more consistent in their reporting on the M-CHAT-R and a concerns interview than LL parents.ConclusionThe M-CHAT-R has strong psychometric properties when used with groups at HL for ASD, suggesting that scores over the screening cutoff of 3 should lead to prompt diagnostic evaluation referrals in children with older siblings on the spectrum.

Though early ASD diagnosis is highly stable, this case report describes a rare situation in which symptoms resolved without intervention over a 4 month period. We do not recommend delaying diagnosis in symptomatic children who meet criteria but when major behavioral changes are reported after diagnosis, reevaluation may be beneficial.

Few studies have explored autism spectrum disorder (ASD) screening in the first year of life. The current investigation examines the psychometric properties of the Infant-Toddler Checklist starting in the first year of life in a sample at elevated and average risk for ASD based on family history. 283 participants were followed from 6 to 36 months, when diagnostic outcome was determined. The results indicated low to moderate sensitivity, specificity, and positive predictive value across ages for broadly distinguishing any delays from typical development, as well as for more narrowly discriminating children with ASD from those who were typically developing. Implications for utilizing ASD screening tools in the first year of life with high risk samples are discussed.

The original version of the article unfortunately contained a mistake in the Results and Discussion section. The corrected sentences are given below: 1. In the Results section (paragraph 2): “The psychometric values were moderate, with strongest indices at 24 months: SE = 78% (95% CI 64–91%), SP = 83% (95% CI 78–89%), PPV = 52% (95% CI 40–65%), and NPV = 94% (95% CI 90–98%)." Instead should say, “SE = 77% (95% CI 64–90%), SP = 85% (95% CI 80-91%), PPV = 55% (95% CI 42–68%), and NPV = 94% (95% CI 90–98%)”. 2. In the Discussion section (paragraph 2), “Longitudinally, SE ranged from 52 to 63% and SP from 42 to 83% in our study.” Instead should say, “Longitudinally, SE ranged from 51 to 62% and SP from 42 to 85% in our study”.

BackgroundSigns of autism are present in the first 2 years of life, but the average age of diagnosis lags far behind. Instruments that improve detection of autism risk in infancy are needed. This study developed and tested the psychometric properties of a novel video-based approach to detecting ASD in infancy.MethodsA prospective longitudinal study of children at elevated or lower risk for autism spectrum disorder was conducted. Participants were 76 infants with an older sibling with ASD and 37 infants with no known family history of autism. The Video-referenced Infant Rating System for Autism (VIRSA) is a web-based application that presents pairs of videos of parents and infants playing together and requires forced-choice judgments of which video is most similar to the child being rated. Parents rated participants on the VIRSA at 6, 9, 12, and 18 months of age. We examined split-half and test-retest reliability; convergent and discriminant validity; and sensitivity, specificity, and negative and positive predictive value for concurrent and 36-month ASD diagnoses.ResultsThe VIRSA demonstrated satisfactory reliability and convergent and discriminant validity. VIRSA ratings were significantly lower for children ultimately diagnosed with ASD than children with typical development by 12 months of age. VIRSA scores at 18 months identified all children diagnosed with ASD at that age, as well as 78% of children diagnosed at 36 months.ConclusionsThis study represents an initial step in the development of a novel video-based approach to detection of ASD in infancy. The VIRSA's psychometric properties were promising when used by parents with an older affected child, but still must be tested in community samples with no family history of ASD. If results are replicated, then the VIRSA's low-burden, web-based format has the potential to reduce disparities in communities with limited access to screening.

While previous studies suggested that regressive forms of onset were not common in autism spectrum disorder (ASD), more recent investigations suggest that the rates are quite high and may be under-reported using certain methods. The current study undertook a systematic investigation of how rates of regression differed by measurement method. Infants with (n = 147) and without a family history of ASD (n = 83) were seen prospectively for up to 7 visits in the first three years of life. Reports of symptom onset were collected using four measures that systematically varied the informant (examiner vs. parent), the decision type (categorical [regression absent or present] vs. dimensional [frequency of social behaviors]), and the timing of the assessment (retrospective vs. prospective). Latent class growth models were used to classify individual trajectories to see whether regressive onset patterns were infrequent or widespread within the ASD group. A majority of the sample was classified as having a regressive onset using either examiner (88%) or parent (69%) prospective dimensional ratings. Rates of regression were much lower using retrospective or categorical measures (from 29 to 47%). Agreement among different measurement methods was low. Declining trajectories of development, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The accuracy of widely used methods of measuring onset is questionable and the present findings argue against their widespread use. Autism Res 2018, 11: 788-797. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.Lay summaryThis study examines different ways of measuring the onset of symptoms in autism spectrum disorder (ASD). The present findings suggest that declining developmental skills, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The results question the accuracy of widely used methods of measuring symptom onset and argue against their widespread use.

Children with Down syndrome (DS) are at higher risk for both delayed expressive language and poor speech intelligibility. The current study utilized the quantitative automated language environment analysis (LENA) to depict mother and child vocalizations and conversational patterns in the home of 43 children with DS, chronologically aged 24-64 months. Children with DS displayed fewer utterances than typically developing children; however, there was wide variability. Furthermore, children with DS did not show increased vocalization counts across their chronological ages. In contrast to previous findings, this study found that the mothers of children with DS had a reduced number of vocalizations. However, the vocalizations increased with age in comparison to mothers of typically developing children. Implications for targeted interventions that facilitate learning opportunities in bidirectional contexts for children with DS and their parents are discussed, with particular attention to quantify behavioral phenotypes utilizing a novel expressive language assessment tool.

The diagnosis of autism spectrum disorder (ASD) is often delayed from the time of noted concerns to the actual diagnosis. The current study used child- and family-level factors to identify homogeneous classes in a surveillance-based sample (n = 2303) of 8-year-old children with ASD. Using latent class analysis, a 5-class model emerged and the class memberships were examined in relation to the child's median age at ASD diagnosis. Class 3, with known language delays and a high advantage socioeconomically had the lowest age of ASD diagnosis (46.74 months) in comparison to Classes 1 (64.99 months), 4 (58.14 months), and 5 (69.78 months) in this sample. Findings demonstrate sociodemographic and developmental disparities related to the age at ASD diagnosis.

When addressing infants, many adults adopt a particular type of speech, known as infant-directed speech (IDS). IDS is characterized by exaggerated intonation, as well as reduced speech rate, shorter utterance duration, and grammatical simplification. It is commonly asserted that IDS serves in part to facilitate language learning. Although intuitively appealing, direct empirical tests of this claim are surprisingly scarce. Additionally, studies that have examined associations between IDS and language learning have measured learning within a single laboratory session rather than the type of long-term storage of information necessary for word learning. In this study, 7- and 8-month-old infants' long-term memory for words was assessed when words were spoken in IDS and adult-directed speech (ADS). Word recognition over the long term was successful for words introduced in IDS, but not for those introduced in ADS, regardless of the register in which recognition stimuli were produced. Findings are discussed in the context of the influence of particular input styles on emergent word knowledge in prelexical infants. (Contains 2 tables, 1 figure, and 2 footnotes.)

Purpose: Developmental assessment is part of a comprehensive autism evaluation. During in-person evaluations, developmental assessment is completed via direct testing by an examiner. In telehealth evaluations, developmental assessment relies on caregiver-report instruments. This study examined correspondence between caregiver report and direct testing of developmental skills., Methods: Participants were 93 children, aged 18-42 months, undergoing evaluation for possible autism spectrum disorder (ASD). Caregivers were interviewed with the Developmental Profile, 4th edition (DP-4) via telehealth platform and children were tested in person 2-4 weeks later using the Mullen Scales of Early Learning (MSEL)., Results: Correlations between the DP-4 and MSEL were high (ranging from 0.50 to 0.82) across standard scores, age equivalents, and functional categories, as well as across individual subtests and overall composite scores., Conclusion: The high convergent validity found in this study suggests that the DP-4 provides a suitable proxy for direct developmental testing using the MSEL in the context of telehealth evaluations for ASD in young children, delivering a good estimate of both developmental functioning and presence of delays., Trial Registration: Data were obtained from registered clinical trial NCT05047224, date of registration 2021-09-07., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: To compare the utility of single versus repeated autism screening in a sample at higher likelihood (HL) for ASD, following both screen positives and all screen negatives to diagnostic outcome., Methods: Using a prospective infant sibling design, the current study followed 135 toddlers at HL for ASD and conducted diagnostic evaluations on the full sample at 18, 24, and 36 months. The psychometric properties of the M-CHAT-R using both concurrent and predictive diagnostic evaluations were compared in a group screened once (at 18 months only, n = 60) or twice (at both 18 and 24 months, n = 75). The study also examined consistency in reporting of ASD symptoms across the M-CHAT-R and a developmental concerns interview, comparing the HL group to a group with lower likelihood (LL) for ASD (n = 88)., Results: Sensitivity and specificity of the M-CHAT-R were high (75 - 95%), consistent with previous research. Positive predictive value (43 - 76%) was higher in this HL group than in previous community samples. Repeat screening improved sensitivity with little cost to specificity. At both 18 and 24 months, HL parents were more consistent in their reporting on the M-CHAT-R and a concerns interview than LL parents., Conclusion: The M-CHAT-R has strong psychometric properties when used with groups at HL for ASD, suggesting that scores over the screening cutoff of 3 should lead to prompt diagnostic evaluation referrals in children with older siblings on the spectrum., (© 2023. The Author(s).)