Social Cognition and Turner Syndrome (COGNITUR)

• ClinicalTrials.gov Identifier: NCT01687842
• Recruitment Status: Completed
• First Posted: September 19, 2012
• Last Update Posted: November 18, 2019
• Sponsor: Assistance Publique - Hôpitaux de Paris
• Information provided by (Responsible Party): Assistance Publique - Hôpitaux de Paris

Study Description

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.

Condition or disease	Intervention/treatment
Turner Syndrome	Other: Evaluation of 45,X Turner syndrome patients

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.

Study Design

• Study Type: Observational
• Actual Enrollment: 25 participants
• Observational Model: Family-Based
• Time Perspective: Prospective
• Official Title: Social Cognition and Turner Syndrome
• Actual Study Start Date: March 2013
• Actual Primary Completion Date: March 2017
• Actual Study Completion Date: March 2017

Groups and Cohorts

Group/Cohort	Intervention/treatment
Turner syndrome patients; Evaluation of 45,X Turner syndrome patients	Other: Evaluation of 45,X Turner syndrome patients; Evaluation of 45,X Turner syndrome patients

Outcome Measures

Primary Outcome Measures :

1. Overall score to the AQ (Autism Quotient) questionnaire. [ Time Frame: 2 days ]
2. SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. [ Time Frame: 2 days ]

Secondary Outcome Measures :

1. Socio-cognitive profile and parent of origin of the intact X chromosome [ Time Frame: 2 days ]

   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.

Biospecimen Retention:   Samples With DNA

Buccal DNA samples will be collected in the patient and her mother

Eligibility Criteria

• Ages Eligible for Study: 8 Years to 18 Years (Child, Adult)
• Sexes Eligible for Study: Female
• Accepts Healthy Volunteers: No
• Sampling Method: Probability Sample

Study Population

Turner syndrome patients

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

Contacts and Locations

Locations

France

Robert Debre Hospital

Paris, France, 75019

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

• Principal Investigator: Jean-Claude Carel, PHD; Assistance Publique - Hôpitaux de Paris
• Study Chair: Delorme Richard, PHD; APHP

More Information

• Responsible Party: Assistance Publique - Hôpitaux de Paris
• ClinicalTrials.gov Identifier: NCT01687842
• Other Study ID Numbers: P110911; ID RCB 2012-A00488-35 ( Other Identifier: ID RCB )
• First Posted: September 19, 2012
• Last Update Posted: November 18, 2019
• Last Verified: October 2016

Additional relevant MeSH terms:

Turner Syndrome; Gonadal Dysgenesis; Syndrome; Disease; Pathologic Processes; Disorders of Sex Development; Urogenital Abnormalities; Sex Chromosome Disorders of Sex Development; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases