Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

2020

475-480

2020 11 01

1944-7558

<p>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.</p>

10.1352/1944-7558-125.6.475

Am J Intellect Dev Disabil

33211814

Provider Responses to Positive Developmental Screening: Disparities in Referral Practices?

2020

2020 Sep 07

1536-7312

<p><strong>OBJECTIVES: </strong>Guidelines recommend universal screening for developmental concerns in young children in pediatric primary care, with referral to early intervention (EI) as early as possible for children with a positive screen. However, participation in EI differs by child race, ethnicity, language, and sex. This study evaluated disparities in rates of referral to EI and estimated the factors associated with referral before and immediately after a positive developmental screen.</p>

<p><strong>METHODS: </strong>Children seen in a large primary care network that has implemented universal developmental screening were included if they screened positive on the Survey of Well-being of Young Children (SWYC) Milestones during a 16- to 30-month well-child visit (n = 7358). Demographics, screening results, and referrals were extracted from the electronic health record.</p>

<p><strong>RESULTS: </strong>Among children who screened positive, 17.5% were already in EI, and 39.9% were referred to EI during the visit with positive screen; 42.5% were not referred. In adjusted regression, the following factors were associated with being in EI before the positive screen: lower SWYC score and being male, older, and White. The following factors were associated with new referral to EI during a visit with positive SWYC: having lower SWYC score or lower income and being male, older, and Black race.</p>

<p><strong>CONCLUSION: </strong>The finding that White children were more likely referred before developmental screening and non-White children more likely referred at the time of positive screen suggests that screening decreases disparities by increasing referral for children with developmental delays from traditionally underserved backgrounds.</p>

10.1097/DBP.0000000000000855

J Dev Behav Pediatr

32909974

Identifying Autism Spectrum Disorder in Real-World Health Care Settings.

2020

2020 Jul 06

1098-4275

10.1542/peds.2020-1467

Pediatrics

32632020

Adherence to screening and referral guidelines for autism spectrum disorder in toddlers in pediatric primary care.

2020

e0232335

2020

1932-6203

<p><strong>OBJECTIVES: </strong>Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen.</p>

<p><strong>METHODS: </strong>Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record.</p>

<p><strong>RESULTS: </strong>Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral.</p>

<p><strong>CONCLUSIONS: </strong>We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.</p>

10.1371/journal.pone.0232335

PLoS ONE

32379778

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

2018

649-666

2018 10

1471-0064

<p>Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.</p>

10.1038/s41576-018-0031-0

Nat. Rev. Genet.

29995837

Variability in Autism Symptom Trajectories Using Repeated Observations From 14 to 36 Months of Age.

2018

837-848.e2

2018 11

1527-5418

<p><strong>OBJECTIVE: </strong>This study examined variability in autism symptom trajectories in toddlers referred for possible autism spectrum disorder (ASD) who had frequent observations from 14 to 36 months of age.</p>

<p><strong>METHOD: </strong>In total, 912 observations of the Autism Diagnostic Observation Schedule (ADOS) were obtained from 149 children (103 with ASD) followed from 14 to 36 months of age. As a follow-up to a previous analysis of ADOS algorithm scores, a different analytic approach (Proc Traj) was implemented to identify several courses of symptom trajectories using ADOS Calibrated Severity Scores in a larger sample. Proc Traj is a statistical method that clusters individuals into separate groups based on different growth trajectories. Changes in symptom severity based on individual ADOS items also were examined.</p>

<p><strong>RESULTS: </strong>Trajectory analysis of overall symptom severity identified 4 clusters (non-spectrum ∼25%; worsening ∼27%; moderately-improving ∼25%; severe-persistent ∼23%). Trajectory clusters varied significantly in the proportions of confirmatory ASD diagnosis, level of baseline and final verbal and nonverbal abilities, and symptom severity. For the moderately-improving group, social communication improved, whereas restricted and repetitive behaviors were stable over time. Language and verbal and nonverbal communication improved for many children, but several social affect and&nbsp;restricted and repetitive behavior symptoms remained stable or worsened.</p>

<p><strong>CONCLUSION: </strong>Significant variability in symptom trajectories was observed among toddlers referred for possible ASD. Changes in social and restricted and repetitive behavior domain scores did not always co-occur. Similarly, item-level trajectories did not always align with trajectories of overall severity scores. These findings highlight the importance of monitoring individual symptoms within broader symptom domains when conducting repeated assessments for young children with suspected ASD.</p>

10.1016/j.jaac.2018.05.026

J Am Acad Child Adolesc Psychiatry

30392625

Changing Developmental Trajectories of Toddlers With Autism Spectrum Disorder: Strategies for Bridging Research to Community Practice.

2018

2615-2628

2018 11 08

1558-9102

<p><strong>Purpose: </strong>The need for community-viable, evidence-based intervention strategies for toddlers with autism spectrum disorder (ASD) is a national priority. The purpose of this research forum article is to identify gaps in intervention research and needs in community practice for toddlers with ASD, incorporate published findings from a randomized controlled trial (RCT) of the Early Social Interaction (ESI) model (Wetherby et al., 2014) to illustrate community-based intervention, report new findings on child active engagement from the ESI RCT, and offer solutions to bridge the research-to-community practice gap.</p>

<p><strong>Method: </strong>Research findings were reviewed to identify gaps in the evidence base for toddlers with ASD. Published and new findings from the multisite ESI RCT compared the effects of two different ESI conditions for 82 toddlers with ASD to teach parents how to support active engagement in natural environments.</p>

<p><strong>Results: </strong>The RCT of the ESI model was the only parent-implemented intervention that reported differential treatment effects on standardized measures of child outcomes, including social communication, developmental level, and adaptive behavior. A new measure of active engagement in the natural environment was found to be sensitive to change in 3 months for young toddlers with ASD and to predict outcomes on the standardized measures of child outcomes. Strategies for utilizing the Autism Navigator collection of web-based courses and tools using extensive video footage for families and professional development are offered for scaling up in community settings to change developmental trajectories of toddlers with ASD.</p>

<p><strong>Conclusions: </strong>Current health care and education systems are challenged to provide intervention of adequate intensity for toddlers with ASD. The use of innovative technology can increase acceleration of access to evidence-based early intervention for toddlers with ASD that addresses health disparities, enables immediate response as soon as ASD is suspected, and rapidly bridges the research-to-practice gap.</p>

10.1044/2018_JSLHR-L-RSAUT-18-0028

J. Speech Lang. Hear. Res.

30418491

Early Indicators of Creatine Transporter Deficiency.

2019

283-285

2019 Mar

1097-6833

<p>Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-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.</p>

10.1016/j.jpeds.2018.11.008

J. Pediatr.

30579583

What's in a name? A preliminary event-related potential study of response to name in preschool children with and without autism spectrum disorder.

2019

e0216051

2019

1932-6203

<p>The ability to selectively respond to one's own name is important for social and language development, and is disrupted in atypically developing populations (e.g., autism spectrum disorder). Research with typically developing samples using event-related potentials (ERPs) has demonstrated that the subject's own name (SON) is differentiated from other stimuli at both early sensory and later cognitive stages of auditory processing. While neural indices of response to name have been researched extensively in adults, no such studies have been conducted with typically developing preschool children or children with autism spectrum disorder (ASD). The present study investigated ERP response to name in a sample of typically developing (TD) preschoolers (n = 19; mean age = 4.3 years) as well as a small, exploratory comparison group of preschoolers with ASD (n = 13; mean age = 4.4 years). TD preschoolers exhibited significantly greater negativity to SON over frontal regions than to an unfamiliar nonsense name, consistent with the adult SON negativity component. This component was present whether the name was spoken by a parent or an unfamiliar adult, suggesting that it reflects SON-specific processing rather than broad self-relevant information processing. Comparing preschoolers with ASD to the TD children revealed a significant SON negativity component across both groups. The amplitude of the SON negativity response was significantly correlated with social variables in the ASD group, though these correlations did not survive correction for multiple comparisons. This study is the first to demonstrate the presence of the SON component in preschool children with and without ASD.</p>

10.1371/journal.pone.0216051

PLoS ONE

31063462

Accuracy of Autism Screening in a Large Pediatric Network.

2019

2019 Oct

1098-4275

<p><strong>BACKGROUND: </strong>Universal screening is recommended to reduce the age of diagnosis for autism spectrum disorder (ASD). However, there are insufficient data on children who screen negative and no study of outcomes from truly universal screening. With this study, we filled these gaps by examining the accuracy of universal screening with systematic follow-up through 4 to 8 years.</p>

<p><strong>METHODS: </strong>Universal, primary care-based screening was conducted using the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F) and supported by electronic administration and integration into electronic health records. All children with a well-child visit (1) between 16 and 26 months, (2) at a Children's Hospital of Philadelphia site after universal electronic screening was initiated, and (3) between January 2011 and July 2015 were included ( = 25 999).</p>

<p><strong>RESULTS: </strong>Nearly universal screening was achieved (91%), and ASD prevalence was 2.2%. Overall, the M-CHAT/F's sensitivity was 38.8%, and its positive predictive value (PPV) was 14.6%. Sensitivity was higher in older toddlers and with repeated screenings, whereas PPV was lower in girls. Finally, the M-CHAT/F's specificity and PPV were lower in children of color and those from lower-income households.</p>

<p><strong>CONCLUSIONS: </strong>Universal screening in primary care is possible when supported by electronic administration. In this "real-world" cohort that was systematically followed, the M-CHAT/F was less accurate in detecting ASD than in previous studies. Disparities in screening rates and accuracy were evident in traditionally underrepresented groups. Future research should focus on the development of new methods that detect a greater proportion of children with ASD and reduce disparities in the screening process.</p>

10.1542/peds.2018-3963

Pediatrics

31562252