Understanding of Psychotic Disorders in Children With 22q11.2DS (PremiCeS22)

Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old

The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome

Study Overview

• Status: Recruiting
• Conditions: 22q11.2 Deletion Syndrome
• Intervention / Treatment: Behavioral: neuropsychological testing, questionnaires and experimental tasks

Detailed Description

22q11.2DS is one of the most common microdeletion syndromes (1 / 2000-1 / 4000 births) and one of the most robust genetic risk factors for schizophrenia (1 to 2% of cases). Reciprocally, approximately 30% of patients with 22q11.2DS will develop psychotic symptoms in adolescence or early adulthood. It is now well established that children and adults with 22q11.2DS have lower social skills than developing youth. These social dysfunctions could be partly underpinned by alterations in social cognitive processes, and could also be linked to the emergence of psychotic signs or even schizophrenia. However, to our knowledge, no study has investigated the existence of behavioral prodromal signs during the onset of psychotic signs in children with 22q11.2DS. In addition, the origin of social cognitive processes remains to this day little explored.

• Study Type: Interventional
• Enrollment (Estimated): 80
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Véronique VIAL; Phone Number: +33 0437915531; Email: veronique.vial@ch-le-vinatier.fr
• Study Contact Backup: Name: Caroline DEMILY, MD PH; Phone Number: +33 0450915163; Email: caroline.demily@ch-le-vinatier.fr

Study Locations

• France
  • Rhone Alpes
    • Lyon, Rhone Alpes, France, 69678
      • Recruiting
      • Hopital Vinatier
      • Contact: VIAL VERONIQUE; Phone Number: 0033437915531; Email: veronique.vial@ch-le-vinatier.fr
      • Contact: DEMILY MD CAROLINE, PH; Phone Number: 0033437915163; Email: caroline.demily@ch-le-vinatier.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 13 years (Child)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• Diagnosis of 22q11.2 deletion syndrome or no developmental disease
• Aged from 4 to 13 years old
• French language

Exclusion Criteria:

• Diagnosis of intellectual deficiency according to DSM 5 criteria
• Drug prescribed for somatic condition that could influence cerebral functioning

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 22q11.2DS; Children aged from 4 to 13 years old with 22q11.2 deletion syndrome	Behavioral: neuropsychological testing, questionnaires and experimental tasks; Neuropsychological testing (the Sky Search subtest from the Test of Everyday Attention for Children (TEA-Ch); the Overlapping lines task of Rey; auditory attention of NEPSY II battery); questionnaires completed by the children's legal representatives to assess behavior; experimental tasks evaluating gaze direction and facial expression recognition
Active Comparator: Control Group (Non22q11.2DS); Children aged from 4 to 13 years old without developmental disease	Behavioral: neuropsychological testing, questionnaires and experimental tasks; Neuropsychological testing (the Sky Search subtest from the Test of Everyday Attention for Children (TEA-Ch); the Overlapping lines task of Rey; auditory attention of NEPSY II battery); questionnaires completed by the children's legal representatives to assess behavior; experimental tasks evaluating gaze direction and facial expression recognition

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The Screen for child Anxiety Related Emotional Disorders (SCARED)	Scale assessing behavioral prodromes or warning signs of hallucinations in psychotic disorders A psychometric study is then carried out on this questionnaire in order to validate it with parents of children carrying 22q11.2DS.	Day 1
facial expression recognition task	Proportion of correct responses in experimental tasks evaluating gaze direction and facial expression recognition	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sustained hearing attention test (Tea-Ch battery)	Proportion of impaired scaled score at the Sky Search subtest from the Test of Everyday Attention for Children (TEA-Ch)	Day 1
Rey's Tangled Lines Test	Proportion of impaired scaled score to study the degree of cognitive development in children	Day 1
NEPSY II battery	Proportion of impaired scaled score at auditory attention of NEPSY II battery The NEPSY-II is a comprehensive neuropsychological battery for children ages 3-12. The test provides measures of sensor-motor, language, visuospatial processing, memory and learning, attention/executive functions, and social cognition.	Day 1
Mean reaction time	Mean reaction time in neuropsychological testing and experimental tasks	Day 1

Collaborators and Investigators

• Sponsor: Hôpital le Vinatier
• Investigators: Principal Investigator: Marie-Noëlle BABINET, CH le vinatier

Study record dates

Study Major Dates

• Study Start (Actual): November 13, 2020
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): September 30, 2026

Study Registration Dates

• First Submitted: October 1, 2020
• First Submitted That Met QC Criteria: November 17, 2020
• First Posted (Actual): November 20, 2020

Study Record Updates

• Last Update Posted (Actual): July 30, 2025
• Last Update Submitted That Met QC Criteria: July 29, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Endocrine System Diseases; Musculoskeletal Diseases; Cardiovascular Diseases; Schizophrenia Spectrum and Other Psychotic Disorders; Heart Diseases; Genetic Diseases, Inborn; Lymphatic Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Parathyroid Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Chromosome Disorders; Lymphatic Abnormalities; Hypoparathyroidism; 22q11 Deletion Syndrome; Psychotic Disorders; Mental Disorders; DiGeorge Syndrome
• Other Study ID Numbers: 2020-A01370-39

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