Social Cognition and Turner Syndrome (COGNITUR)

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2012 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01687842
First received: September 6, 2012
Last updated: May 22, 2014
Last verified: July 2012
  Purpose

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 Intervention
Turner Syndrome
Other: Evaluation of 45,X Turner syndrome patients

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Social Cognition and Turner Syndrome

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Overall score to the AQ (Autism Quotient) questionnaire. [ Time Frame: 2 days ] [ Designated as safety issue: No ]
  • SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population. [ Time Frame: 2 days ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Socio-cognitive profile and parent of origin of the intact X chromosome [ Time Frame: 2 days ] [ Designated as safety issue: No ]

    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


Estimated Enrollment: 160
Study Start Date: March 2013
Estimated Study Completion Date: March 2016
Estimated Primary Completion Date: March 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.

  Eligibility

Ages Eligible for Study:   8 Years to 18 Years
Genders 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01687842

Contacts
Contact: Richard Delorme, PHD 0033140034130 richard.delorme@rdb.aphp.fr
Contact: Jean-Claude Carel, PHD 0033140034105 jean-claude.carel@rdb.aphp.fr

Locations
France
Robert Debre Hospital Recruiting
Paris, France, 75019
Contact: Jean-Claude Carel, PHD    0033140034105    jean-claude.carel@rdb.aphp.fr   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Jean-Claude Carel, PHD Assistance Publique - Hôpitaux de Paris
  More Information

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01687842     History of Changes
Other Study ID Numbers: P110911, ID RCB 2012-A00488-35
Study First Received: September 6, 2012
Last Updated: May 22, 2014
Health Authority: France: Ministry of Health

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Turner Syndrome
Gonadal Dysgenesis
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
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female

ClinicalTrials.gov processed this record on August 01, 2014