# Analysis of early vocalization features in children at high genetic risk for autism

> **NIH NIH F31** · PURDUE UNIVERSITY · 2020 · $39,120

## Abstract

PROJECT SUMMARY/ABSTRACT
Atypical social communication is a core feature of ASD, with delayed or abnormal language constituting the most
common initial cause for parental concern for children who are ultimately diagnosed. Vocal development in
particular is often delayed or atypical in children with ASD, and growing literature suggests that as early as
infancy, vocalization features such as volubility, vocal maturity, duration, and pitch may be useful in predicting
later ASD diagnosis. However, little is known about the developmental processes and genetic mechanisms that
contribute to these associations, limiting translational efforts to efficiently detect and treat abnormal development
related to ASD and language delays. Characterizing early vocalization features in populations with neurogenetic
syndromes (NGS) that are highly associated with ASD can address this gap, as NGS offer a “saturated” model
for prospective surveillance of ASD emergence. Specifically, because the genetic abnormalities in NGS are
already known, isolating phenotypic features that are specific to an NGS from features broadly shared across
multiple NGS (e.g. features driven by shared intellectual or medical features) may inform biological contributors
to ASD-associated atypical social communication. The present proposal uses this cross-syndrome approach to
characterize early vocalization features and associations with ASD in 3 distinct, understudied NGS: Angelman
syndrome (AS), Down syndrome (DS), and fragile X syndrome (FXS). Aim 1 will apply a novel coding pipeline
to efficiently identify syndrome-specific profiles of early vocal development that are not limited by traditional
shortcomings of standardized assessment tools. Indeed, these standardized measures are often ineffective at
capturing variability in children with NGS due, in part, to high levels of “floor effects” that limit score variability.
Thus, the results of this aim are expected to advance the field by (1) developing procedures for measuring early
vocal development that are more appropriate for use in NGS populations, and (2) building on very limited
understanding of early vocal development in 3 rare NGS populations. Aim 2 will then test the associations of
early vocal features with ASD-associated features in AS, DS and FXS, all of which demonstrate unique etiological
risk for developing ASD. Results of this aim are expected to improve our understanding of developmental and
genetic pathways by which atypical social communication features are associated with ASD, as vocalization
features that demonstrate associations with ASD features across multiple NGS groups can be considered robust
predictors of ASD across etiologically-distinct risk groups, while syndrome-specific associations may inform
distinct developmental or genetic mechanisms that may explain these associations. Overall, this project directly
aligns with the mission of NIDCD to inform the developmental phenotypes and potential genetic bases of
lang...

## Key facts

- **NIH application ID:** 9956593
- **Project number:** 5F31DC018219-02
- **Recipient organization:** PURDUE UNIVERSITY
- **Principal Investigator:** Lisa M Hamrick
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $39,120
- **Award type:** 5
- **Project period:** 2019-08-01 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9956593

## Citation

> US National Institutes of Health, RePORTER application 9956593, Analysis of early vocalization features in children at high genetic risk for autism (5F31DC018219-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9956593. Licensed CC0.

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