Social Cognition and Turner Syndrome

NCT ID: NCT01687842

Last Updated: 2019-11-18

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 25 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-03-31
• Study Completion Date: 2017-03-31

Brief Summary

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

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.

Conditions

Turner Syndrome

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Study Groups

Turner syndrome patients

Evaluation of 45,X Turner syndrome patients

Evaluation of 45,X Turner syndrome patients

Intervention Type: OTHER

Evaluation of 45,X Turner syndrome patients

Interventions

Evaluation of 45,X Turner syndrome patients

Evaluation of 45,X Turner syndrome patients

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 8 Years
• Maximum Eligible Age: 18 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Jean-Claude Carel, PHD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Delorme Richard, PHD

Role: STUDY_CHAIR

APHP

Locations

Robert Debre Hospital

Paris, , France

Countries

France

Other Identifiers

ID RCB 2012-A00488-35

Identifier Type: OTHER

Identifier Source: secondary_id

P110911

Identifier Type: -

Identifier Source: org_study_id