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Background <p>Autism is most often diagnosed after the&#xa0;age of 3, despite evidence that neurodevelopmental differences emerge within the first 2 years of life and that genetic and familial risk can be identified at birth.</p> Methods <p>Established in September 2022 (anticipated duration of 5–7 years), the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center is an ongoing longitudinal cohort study designed to characterize early developmental trajectories associated with autism and evaluate the impact of providing genetic information to families.</p> Results <p>Infants who undergo genomic newborn screening and enroll in PROGRESS are followed from 3 to 24 months of age and categorized into three groups: identified genetic probability (IGP), familial likelihood without identified genetic probability (Baby Siblings), and no identified genetic probability (NGP). Assessments include electroencephalography, electrocardiography, auditory, eye tracking, developmental testing, caregiver-infant interaction, and caregiver-reported measures. Autism screening is conducted at 18 months, with comprehensive diagnostic evaluation at 24 months. Caregiver psychosocial experiences of receiving early genetic information are assessed through surveys and interviews.</p> Conclusion <p>By integrating genomic probability with early neurobehavioral development and family experiences, PROGRESS provides a framework to inform ethical genomic screening, developmental monitoring, and timely access to early intervention supported by a family navigator.</p> Impact <p><UnorderedList Mark="Bullet"> <ItemContent> <p>This study presents the rationale and methods of the ongoing Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University, which began in September 2022 (anticipated duration of 5–7 years).</p> </ItemContent> <ItemContent> <p>PROGRESS is a prospective longitudinal cohort assessing infants with identified genetic probability, familial likelihood, or no identified genetic probability for autism from 3 to 24 months of age.</p> </ItemContent> <ItemContent> <p>By linking early genetic probability with brain–behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.</p> </ItemContent> </UnorderedList></p>

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Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月22日

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  • Nicolò Pini,
  • Lauren C. Shuffrey,
  • Kally C. O’Reilly Sparks,
  • Andrew T. Marin,
  • Celia L. D’Amato,
  • Renald Dambreville,
  • Yunzhe Hu,
  • Rebecca N. Siegel,
  • Hallie R. Brown,
  • Gazi F. Azad,
  • Rebecca A. Muhle,
  • Carrie L. Koval-Burt,
  • Yufeng Shen,
  • Melanie M. Wall,
  • Stephen M. Kanne,
  • Matthew S. Lebowitz,
  • William P. Fifer,
  • Paul S. Appelbaum,
  • Dima Amso,
  • Wendy K. Chung,
  • Jeremy Veenstra-VanderWeele

摘要

Background

Autism is most often diagnosed after the age of 3, despite evidence that neurodevelopmental differences emerge within the first 2 years of life and that genetic and familial risk can be identified at birth.

Methods

Established in September 2022 (anticipated duration of 5–7 years), the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center is an ongoing longitudinal cohort study designed to characterize early developmental trajectories associated with autism and evaluate the impact of providing genetic information to families.

Results

Infants who undergo genomic newborn screening and enroll in PROGRESS are followed from 3 to 24 months of age and categorized into three groups: identified genetic probability (IGP), familial likelihood without identified genetic probability (Baby Siblings), and no identified genetic probability (NGP). Assessments include electroencephalography, electrocardiography, auditory, eye tracking, developmental testing, caregiver-infant interaction, and caregiver-reported measures. Autism screening is conducted at 18 months, with comprehensive diagnostic evaluation at 24 months. Caregiver psychosocial experiences of receiving early genetic information are assessed through surveys and interviews.

Conclusion

By integrating genomic probability with early neurobehavioral development and family experiences, PROGRESS provides a framework to inform ethical genomic screening, developmental monitoring, and timely access to early intervention supported by a family navigator.

Impact

This study presents the rationale and methods of the ongoing Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University, which began in September 2022 (anticipated duration of 5–7 years).

PROGRESS is a prospective longitudinal cohort assessing infants with identified genetic probability, familial likelihood, or no identified genetic probability for autism from 3 to 24 months of age.

By linking early genetic probability with brain–behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.