22q11.2 Deletion Syndrome
Conditions
Brief summary
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
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.
Interventions
BEHAVIORALneuropsychological 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
Sponsors
Hôpital le Vinatier
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Intervention model description
Monocentric study with two parallel groups
Eligibility
Sex/Gender
ALL
Age
4 Years to 13 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The Screen for child Anxiety Related Emotional Disorders (SCARED) | Day 1 | 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. |
| facial expression recognition task | Day 1 | Proportion of correct responses in experimental tasks evaluating gaze direction and facial expression recognition |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Sustained hearing attention test (Tea-Ch battery) | Day 1 | Proportion of impaired scaled score at the Sky Search subtest from the Test of Everyday Attention for Children (TEA-Ch) |
| Rey's Tangled Lines Test | Day 1 | Proportion of impaired scaled score to study the degree of cognitive development in children |
| NEPSY II battery | Day 1 | 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. |
| Mean reaction time | Day 1 | Mean reaction time in neuropsychological testing and experimental tasks |
Countries
France
Contacts
Primary ContactCaroline DEMILY, MD PH
Backup ContactVéronique VIAL
Outcome results
None listed