Multicenter Validation Study on Autism Screening Using a Machine-assisted System

Multicenter Validation Study on the Effectiveness of a Machine-Assisted System for Early Screening of Autism

The goal of this observational study is to assess the effectiveness of a machine-assisted system for early screening of autism. The main questions it aims to answer are:

• Does the machine-assisted system including 5 main behavioral paradigms identify toddlers with autism from those with other neurodevelopmental disorders and typical development?
• Are there any differences in the early symptoms of autism among toddlers over the whole mainland China? Participants will receive some developmental and social communicational evaluations for clinical diagnoses. They will also receive the behavior evaluations of the machine-assisted system. The above evaluations will be performed just once.

Study Overview

• Status: Not yet recruiting
• Conditions: Autism Spectrum Disorder; Language Development Disorders; Early Developmental Impairment
• Intervention / Treatment: Diagnostic test: Autism Diagnostic Observation Schedule, the 2nd edition(ADOS-2); Diagnostic test: Griffiths Developmental Scales, Chinese edition(GDS-C)

Detailed Description

The current study is a diagnostic accuracy study. In total, 1000 Toddlers with autism spectrum disorder, global developmental delay, language disorder, and typical development (n=250 for each group) will be recruited in this study. The gold standard of the diagnosis of autism spectrum disorder will be the clinical diagnosis from developmental and behavioral pediatricians, and the diagnoses will be confirmed by Autism Diagnostic Observation Schedule-2nd edition and Griffiths Development Scales-Chinese edition(GDS-C). The diagnostic accuracy of the machine-assisted system for early screening of autism will be evaluated.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Bingrui Zhou; Phone Number: 13701989113; Email: zbr1800@163.com

Study Locations

• China
  • Anhui
    • Hefei, Anhui, China, 230061
      • Hefei First People's Hospital
      • Contact: Peiting Shen
  • Fujian
    • Xiamen, Fujian, China, 361004
      • Xiamen Children's Hospital
      • Contact: Huiping Li
  • Guangxi
    • Liuzhou, Guangxi, China, 545001
      • Liuzhou Maternity and child Healthcare Hospital
      • Contact: Aiwen Li
  • Helongjiang
    • Harbin, Helongjiang, China, 150023
      • The Sixth Affiliated Hospital of Harbin Medical University
      • Contact: Lijie Wu
  • Jiangsu
    • Kunshan, Jiangsu, China, 215300
      • Kunshan Maternal and Child Health Care Hospital
      • Contact: Qinyi Zhang; Phone Number: 15950187911
  • Shaanxi
    • Xi'an, Shaanxi, China, 710082
      • Xi'an Children's Hospital
      • Contact: Chunyang Li
  • Shanghai Municipality
    • Shanghai, Shanghai Municipality, China, 201102
      • Children's Hospital of Fudan University
  • Sichuan
    • Chengdu, Sichuan, China, 610073
      • Chengdu Women's and Children's Central Hospital
      • Contact: Lan Zhang
  • Yunnan
    • Dehong, Yunnan, China, 678499
      • Dehong People's Hospital
      • Contact: Xueyan Li
  • Zhejiang
    • Ningbo, Zhejiang, China, 315012
      • Ningbo Women and Children's Hospital
      • Contact: Lanqiu Lv

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: Yes

• Sampling Method: Probability Sample

Study Population

The diagnostic accuracy study will be performed in children with ASD, GDD, LD, and healthy, typically developing children aged between 1.5 to 2.5 years old.

Description

ASD group：

Inclusion Criteria:

1. Children diagnosed with ASD according to a clinical judgement based on the criteria of ASD in DSM-5 and further confirmed with ADOS-2;
2. Ages 1.5-2.5 years;
3. Parents/caregivers understand the content of the study and agree to participate in.

GDD group：

Inclusion Criteria:

1. Age 1.5-2.5 years, gestational age 37-42 weeks, birth weight 2500-4000g;
2. Clinically diagnosed with GDD (Global Developmental Delay) according to the DSM-V diagnostic criteria, with a Griffiths Development Scales-Chinese edition(GDS-C) assessment showing a Developmental Quotient (DQ) ≤75 in two or more domains;
3. Those who did not meet the initial screening positivity criteria for ASD (Autism Spectrum Disorder) using M-CHAT-R/F.

LD group：

Inclusion Criteria:

1. Age 1.5-2.5 years, gestational age 37-42 weeks, birth weight 2500-4000 g;
2. Clinically diagnosed with LD (Language Disorder) according to the DSM-V diagnostic criteria, with a Developmental Quotient (DQ) ≤75 in the language domain of the Griffiths Development Scales-Chinese edition(GDS-C) and DQ >75 in all other domains;
3. Those who did not meet the initial screening positivity criteria for ASD (Autism Spectrum Disorder) assessed by M-CHAT-R/F

Exclusion Criteria for ASD, GDD, and LD groups:

1. Rett Syndrome, Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, tuberous sclerosis, and other syndromes caused by known genetic defects or inherited metabolic diseases;
2. Children with brain injuries, specific chronic or congenital diseases.
3. The gestational age is less than 37 weeks, or the birth weight is lower than 2500g.

TD group：

Inclusion Criteria:

1. Healthy, typically developing toddlers aged 1.5-2.5 years ;
2. gestational age of 37-42 weeks, birth weight of 2500-4000 g;
3. Developmental Quotients(DQs) are greater than 75 in all domains of theGriffiths Development Scales-Chinese edition(GDS-C);
4. Screened negative by M-CHAT-R/F screening for autism spectrum disorder (ASD).

Exclusion Criteria:

Children with neurodevelopmental disorders (e.g., developmental delay, language impairment), neurological conditions (e.g., epilepsy, tuberous sclerosis), or other severe chronic diseases were excluded.

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ASD group; This group includes toddlers diagnosed with autism spectrum disorder aged between 1.5 to 2.5 years old.	Diagnostic test: Autism Diagnostic Observation Schedule, the 2nd edition(ADOS-2); The toddlers diagnosed with ASD will receive the ADOS-2 evaluation to confirm the diagnosis.; Diagnostic test: Griffiths Developmental Scales, Chinese edition(GDS-C); The toddlers diagnosed with ASD, GDD, LD, and typically developing will receive the GDS-C evaluation to confirm the diagnosis.
GDD group; This group includes toddlers diagnosed with global development disorder aged between 1.5 to 2.5 years old.	Diagnostic test: Griffiths Developmental Scales, Chinese edition(GDS-C); The toddlers diagnosed with ASD, GDD, LD, and typically developing will receive the GDS-C evaluation to confirm the diagnosis.
LD group; This group includes toddlers diagnosed with language disorder aged between 1.5 to 2.5 years old.	Diagnostic test: Griffiths Developmental Scales, Chinese edition(GDS-C); The toddlers diagnosed with ASD, GDD, LD, and typically developing will receive the GDS-C evaluation to confirm the diagnosis.
TD group; This group includes typically developing toddlers aged between 1.5 to 2.5 years old.	Diagnostic test: Griffiths Developmental Scales, Chinese edition(GDS-C); The toddlers diagnosed with ASD, GDD, LD, and typically developing will receive the GDS-C evaluation to confirm the diagnosis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Total Score of 5 main social behaviors	The 5 main social behaviors include Response to name, Response to instructions, Joint attention, request by pointing, and free play. Scores of the 5 scenes range from 0 to 4, and the total score ranges from 0 to 16. Higher score indicates better social skills. Subjects' behaviors will be scored both by investigators and the machine-assisted system.	The assessment will be performed during 1.5 to 2.5 years old.
Clinical diagnoses	The clinical diagnoses of autism spectrum disorder (ASD), global developmental delay (GDD), and language disorder (LD) will be made according to the standard of DSM-5. The diagnosis of ASD will be confirmed by The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) and Autism Diagnostic Observation Schedule, the 2nd edition (ADOS-2). The diagnoses of GDD and LD will be confirmed by Griffiths Development Scales-Chinese edition (GDS-C). Subjects in TD group will also receive assessments of M-CHAT-R/F, (negative) and GDS-C (DQs>75).	The diagnoses will be made during 1.5 to 2.5 years old.
Scores of Autism Diagnostic Observation Schedule-2nd edition(ADOS-2)	The scores of social affect and restricted repetitive behaviors and the comparison score of ADOS-2 will be used for confirming the clinical diagnosis of autism spectrum disorder(ASD). The minimum and maximum scores of ADOS-2 are 0 and 28, and the comparison score of ADOS-2 ranges from 1 to 10, in which higher scores mean a worse outcome.	The assessment will be performed during 1.5 to 2.5 years old.
development quotient development quotient Development quotients (DQs) of Griffiths Developmental Scales-Chinese edition(GDS-C)	DQs of Griffiths Development Scales-Chinese edition(GDS-C) will be used for confirming the diagnoses of global developmental delay(GDD) and language disorder(LD), also be used to evaluate the development level of typically developing toddlers. The average scores of DQ in different domains are 100, and the standard deviations are 15. The DQ lower than 70(including 70) means lower than normal.	The assessment will be performed during 1.5 to 2.5 years old.

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University
• Collaborators: Chengdu Women's and Children's Central Hospital; Xiamen Children's Hospital; Xian Children's Hospital; Liuzhou Maternity and Child Healthcare Hospital; Ningbo Women & Children's Hospital; Dehong People's Hospital; Kunshan City Maternal and Child Health; Harbin Institute of Technology, Shenzhen; Hefei First People's Hospital; The Sixth Affiliated Hospital of Harbin Medical University
• Investigators: Principal Investigator: Xiu Xu, Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (Estimated): September 15, 2025
• Primary Completion (Estimated): June 15, 2028
• Study Completion (Estimated): June 15, 2029

Study Registration Dates

• First Submitted: May 28, 2025
• First Submitted That Met QC Criteria: May 28, 2025
• First Posted (Actual): June 5, 2025

Study Record Updates

• Last Update Posted (Estimated): September 16, 2025
• Last Update Submitted That Met QC Criteria: September 15, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Mental Disorders; Neurobehavioral Manifestations; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Communication Disorders; Language Disorders; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Autism Spectrum Disorder; Language Development Disorders
• Other Study ID Numbers: AI multicenter

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No