Social Cognition and Turner Syndrome

Study Overview
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Brief Summary
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Monocentric multidisciplinary study (psychologists, endocrinologists, psychiatrists, and molecular biologists) to characterize social cognition in adolescents with Turner syndrome (TS). Inclusion criteria: Turner syndrome with homogeneous 45,X karyotype. Age between 8 and 18 years. Somatic state compatible with the evaluation. Functional language and IQ ≥ 80 for the transfer tests Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection). Affiliation to Social Security (beneficiary or assignee). The primary endpoint will be the overall score to the AQ (Autism Quotient) questionnaire and to the SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. For patients with scores above the threshold for SRS or QA validation of a possible diagnosis of autism spectrum disorders will be performed with commonly used diagnostic tools (ADIR (Lord et al, 1994), ADOS-G (Lord et al, 1999) and diagnostic criteria of DSM IV-TR). Secondary criteria will include the results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions). A DNA sample will be collected from the patient and her mother. The observation period is 2 days for the patient and about 1 hour for the mother. The total duration of the study is 3 years.

Detailed Description
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Patients will be recruited to the study by their pediatric endocrinologist during routine monitoring visits. They will then be contacted by phone or by mail for an appointment with their mother for more oral and written information consisting of an information notice and informed consent form. The recruitment of Turner syndrome patients will be based on the Reference Centre for Rare Endocrine Growth Disorders (AP-HP, Robert Debré, Armand Trousseau and Necker hospitals). The parental origin of the remaining X chromosome will be analyzed using microsatellite analysis and comparison of the profile of the patient and her mother. Statistical analysis will be conducted under the supervision of Professor C. ALBERTI using commonly accepted standards. All tests will be bilateral. Given the exploratory nature of the study, a significance threshold of 10% will be used. Statistical analyzes will be performed using SAS software V 9.2.

Official Title
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Social Cognition and Turner Syndrome

Conditions
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Turner Syndrome

Intervention / Treatment
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* Other: Evaluation of 45,X Turner syndrome patients


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: Turner syndrome with homogeneous 45,X karyotype. Age between 8 and 18 years. Somatic state compatible with the evaluation. Functional language and IQ ≥ 80 for the transfer tests Informed consent signed by the holders of parental authority, the patient and the mother for her own participation (DNA collection). Affiliation to Social Security (beneficiary or assignee). Exclusion Criteria: Additional condition associated with an autism spectrum disorder Turner syndrome not related to an homogeneous 45,X karyotype

Ages Eligible for Study
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Minimum Age: 8 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Turner syndrome patients<br>Evaluation of 45,X Turner syndrome patients | Other: Evaluation of 45,X Turner syndrome patients<br>* Evaluation of 45,X Turner syndrome patients<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Overall score to the AQ (Autism Quotient) questionnaire. |  | 2 days | 
| SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. |  | 2 days | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Socio-cognitive profile and parent of origin of the intact X chromosome | Results of standardized tests to assess autistic features (AQ, ADI-R, ADOS, DSM IV-TR criteria), intellectual efficiency (Wechsler scales), psychiatric comorbidities (Kiddie-SADS) and sociocognitive profile (SpeX test, Social cognition, Perception, eXecutive functions). Parent of origin of the intact X chromosome and its relationship to the autistic features. | 2 days |