Get SET Early to Identify and Treatment Refer Autism Spectrum Disorder at 1 Year and Discover Factors That Influence Early Diagnosis

Pierce, Karen; Gazestani, Vahid H.; Bacon, Elizabeth; Courchesne, Eric; Cheng, Amanda; Barnes, Cynthia Carter; Nalabolu, Srinivasa; Cha, Debra; Arias, Steven; Lopez, Linda; Pham, Christie; Gaines, Kim; Gyurjyan, Gohar; Cook-Clark, Terri; Karins, Kathy

doi:10.1016/j.jpeds.2021.04.041

Cited by 42 publications

(45 citation statements)

References 58 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Toddlers who started treatment before 24 months showed larger overall gains than those starting treatment after 24 months, even when controlling for the amount of time in treatment, treatment intensity, and general pre-treatment developmental ability. This result is compatible with the main ideas behind why early intervention is crucial before 24 months [ 1 , 10 , 12 ]. Also compatible with the idea that treatment start before versus after 24 months is important, we also discovered that treatment slopes are much more variable once past 24 months of age.…”

Section: Discussionsupporting

confidence: 89%

“…Participants and families in this study were recruited as part of a larger multidisciplinary research project examining early neurobiological features and development of ASD at the University of California, San Diego. Toddlers with high likelihood for an ASD diagnosis were identified from one of two sources: general community referral (e.g., website or outside agency) and a population-based screening method called Get SET Early [ 6 , 10 ]. Using this population-based screening approach, toddlers with high likelihood for an ASD diagnosis as young as 12 months were identified in pediatric offices with a broadband screening instrument – the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist [ 31 ].…”

Section: Methodsmentioning

confidence: 99%

“…While it is becoming increasingly clear that the biology of autism starts in early prenatal development [ 2 , 3 ] and that early behavioral signs begin to manifest before 18 months [ 4 – 6 ], the mean age of diagnosis is still lagging far behind at 3-4 years of age [ 7 , 8 ]. In contrast to this reality, we have recently shown that diagnostic stability at much earlier ages is indeed high [ 9 ] and thus, the ability to detect and start treatment earlier is feasible [ 10 ]. Some have suggested that detection and intervention before 24 months is key in order to capitalize on early neuroplasticity to facilitate optimal outcomes [ 10 – 12 ].…”

mentioning

confidence: 99%

“…In contrast to this reality, we have recently shown that diagnostic stability at much earlier ages is indeed high [ 9 ] and thus, the ability to detect and start treatment earlier is feasible [ 10 ]. Some have suggested that detection and intervention before 24 months is key in order to capitalize on early neuroplasticity to facilitate optimal outcomes [ 10 – 12 ]. The impact of starting intervention earlier would likely be more total positive gains for the child (indexed by absolute level of improvement).…”

mentioning

confidence: 99%

See 3 more Smart Citations

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

et al. 2021

Self Cite

View full text Add to dashboard Cite

Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e., <24 months) leads to greater gains while controlling for time in treatment. Pre-treatment clinical behavioral measures predict 21% of the variance in the rate of skill growth during early intervention. Pre-treatment blood leukocyte gene expression patterns also predict the rate of skill growth, accounting for 13% of the variance in treatment slopes. Results indicated that 295 genes can be prioritized as driving this effect. These treatment-relevant genes highly interact at the protein level, are enriched for differentially histone acetylated genes in autism postmortem cortical tissue, and are normatively highly expressed in a variety of subcortical and cortical areas important for social communication and language development. This work suggests that pre-treatment biological and clinical behavioral characteristics are important for predicting developmental change in the context of early intervention and that individualized pre-treatment biology related to histone acetylation may be key.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

et al. 2021

Self Cite

View full text Add to dashboard Cite

show abstract

“…Previous studies have found urban areas ( 17 ) and proximity to services ( 18 , 19 ) to be positively correlated with ASD prevalence. In addition, hundreds of pediatricians in San Diego have been engaged in a large research program to improve early ASD detection ( 20 ). California also has a system of regional centers that conduct assessments to determine eligibility for services for children with ASD.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018

Maenner¹,

Shaw²,

Bakian³

et al. 2021

MMWR Surveill. Summ.

Self Cite

1,299

837

View full text Add to dashboard Cite

Problem/Condition Autism spectrum disorder (ASD). Period Covered 2018. Description of System The Autism and Developmental Disabilities Monitoring (ADDM) Network conducts active surveillance of ASD. This report focuses on the prevalence and characteristics of ASD among children aged 8 years in 2018 whose parents or guardians lived in 11 ADDM Network sites in the United States (Arizona, Arkansas, California, Georgia, Maryland, Minnesota, Missouri, New Jersey, Tennessee, Utah, and Wisconsin). To ascertain ASD among children aged 8 years, ADDM Network staff review and abstract developmental evaluations and records from community medical and educational service providers. In 2018, children met the case definition if their records documented 1) an ASD diagnostic statement in an evaluation (diagnosis), 2) a special education classification of ASD (eligibility), or 3) an ASD International Classification of Diseases (ICD) code. Results For 2018, across all 11 ADDM sites, ASD prevalence per 1,000 children aged 8 years ranged from 16.5 in Missouri to 38.9 in California. The overall ASD prevalence was 23.0 per 1,000 (one in 44) children aged 8 years, and ASD was 4.2 times as prevalent among boys as among girls. Overall ASD prevalence was similar across racial and ethnic groups, except American Indian/Alaska Native children had higher ASD prevalence than non-Hispanic White (White) children (29.0 versus 21.2 per 1,000 children aged 8 years). At multiple sites, Hispanic children had lower ASD prevalence than White children (Arizona, Arkansas, Georgia, and Utah), and non-Hispanic Black (Black) children (Georgia and Minnesota). The associations between ASD prevalence and neighborhood-level median household income varied by site. Among the 5,058 children who met the ASD case definition, 75.8% had a diagnostic statement of ASD in an evaluation, 18.8% had an ASD special education classification or eligibility and no ASD diagnostic statement, and 5.4% had an ASD ICD code only. ASD prevalence per 1,000 children aged 8 years that was based exclusively on documented ASD diagnostic statements was 17.4 overall (range: 11.2 in Maryland to 29.9 in California). The median age of earliest known ASD diagnosis ranged from 36 months in California to 63 months in Minnesota. Among the 3,007 children with ASD and data on cognitive ability, 35.2% were classified as having an intelligence quotient (IQ) score ≤70. The percentages of children with ASD with IQ scores ≤70 were 49.8%, 33.1%, and 29.7% among Black, Hispanic, and White children, respectively. Overall, children with ASD and IQ scores ≤70 had earlier median ages of ASD diagnosis than children with ASD and IQ scores >70 (44 versus 53 months). Interpretation In 2018, one in 44 children aged 8 years was estimated to have ASD, and prevalence and median age of identification varied widely across sites. Whereas overall ASD prevalence was similar by race a...

show abstract

Level of Attention to Motherese Speech as an Early Marker of Autism Spectrum Disorder

et al. 2023

Self Cite

View full text Add to dashboard Cite

ImportanceCaregivers have long captured the attention of their infants by speaking in motherese, a playful speech style characterized by heightened affect. Reduced attention to motherese in toddlers with autism spectrum disorder (ASD) may be a contributor to downstream language and social challenges and could be diagnostically revealing.ObjectiveTo investigate whether attention toward motherese speech can be used as a diagnostic classifier of ASD and is associated with language and social ability.Design, Setting, and ParticipantsThis diagnostic study included toddlers aged 12 to 48 months, spanning ASD and non-ASD diagnostic groups, at a research center. Data were collected from February 2018 to April 2021 and analyzed from April 2021 to March 2022.ExposuresGaze-contingent eye-tracking test.Main Outcomes and MeasuresUsing gaze-contingent eye tracking wherein the location of a toddler’s fixation triggered a specific movie file, toddlers participated in 1 or more 1-minute eye-tracking tests designed to quantify attention to motherese speech, including motherese vs traffic (ie, noisy vehicles on a highway) and motherese vs techno (ie, abstract shapes with music). Toddlers were also diagnostically and psychometrically evaluated by psychologists. Levels of fixation within motherese and nonmotherese movies and mean number of saccades per second were calculated. Receiver operating characteristic (ROC) curves were used to evaluate optimal fixation cutoff values and associated sensitivity, specificity, positive predictive value (PPV), and negative predictive value. Within the ASD group, toddlers were stratified based on low, middle, or high levels of interest in motherese speech, and associations with social and language abilities were examined.ResultsA total of 653 toddlers were included (mean [SD] age, 26.45 [8.37] months; 480 males [73.51%]). Unlike toddlers without ASD, who almost uniformly attended to motherese speech with a median level of 82.25% and 80.75% across the 2 tests, among toddlers with ASD, there was a wide range, spanning 0% to 100%. Both the traffic and techno paradigms were effective diagnostic classifiers, with large between-group effect sizes (eg, ASD vs typical development: Cohen d, 1.0 in the techno paradigm). Across both paradigms, a cutoff value of 30% or less fixation on motherese resulted in an area under the ROC curve (AUC) of 0.733 (95% CI, 0.693-0.773) and 0.761 (95% CI, 0.717-0.804), respectively; specificity of 98% (95% CI, 95%-99%) and 96% (95% CI, 92%-98%), respectively; and PPV of 94% (95% CI, 86%-98%). Reflective of heterogeneity and expected subtypes in ASD, sensitivity was lower at 18% (95% CI, 14%-22%) and 29% (95% CI, 24%-34%), respectively. Combining metrics increased the AUC to 0.841 (95% CI, 0.805-0.877). Toddlers with ASD who showed the lowest levels of attention to motherese speech had weaker social and language abilities.Conclusions and RelevanceIn this diagnostic study, a subset of toddlers showed low levels of attention toward motherese speech. When a cutoff level of 30% or less fixation on motherese speech was used, toddlers in this range were diagnostically classified as having ASD with high accuracy. Insight into which toddlers show unusually low levels of attention to motherese may be beneficial not only for early ASD diagnosis and prognosis but also as a possible therapeutic target.

show abstract

Get SET Early to Identify and Treatment Refer Autism Spectrum Disorder at 1 Year and Discover Factors That Influence Early Diagnosis

Cited by 42 publications

References 58 publications

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018

Level of Attention to Motherese Speech as an Early Marker of Autism Spectrum Disorder

Contact Info

Product

Resources

About