Social Cognition and Turner Syndrome (COGNITUR)

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.

Study Overview

• Status: Completed
• Conditions: Turner Syndrome
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Actual): 25

Contacts and Locations

Study Locations

• France
  • Paris, France, 75019
    • Robert Debre Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Turner syndrome patients

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2013
• Primary Completion (Actual): March 1, 2017
• Study Completion (Actual): March 1, 2017

Study Registration Dates

• First Submitted: September 6, 2012
• First Submitted That Met QC Criteria: September 14, 2012
• First Posted (Estimate): September 19, 2012

Study Record Updates

• Last Update Posted (Actual): November 18, 2019
• Last Update Submitted That Met QC Criteria: November 15, 2019
• Last Verified: October 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Chromosome Disorders; Sex Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Syndrome; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: P110911; ID RCB 2012-A00488-35 (Other Identifier: ID RCB)