Social Cognition and Turner Syndrome

Turner Syndrome Clinical Trial

— COGNITUR  

Official title:

Social Cognition and Turner Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01687842
• Other study ID #: P110911
• Secondary ID: ID RCB 2012-A004
• Status: Completed
• Start date: March 2013
• Est. completion date: March 2017

Study information

• Verified date: October 2016
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. completion date: March 2017
• Est. primary completion date: March 2017
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 8 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Gonadal Dysgenesis
• Primary Ovarian Insufficiency
• Syndrome
• Turner Syndrome

Intervention

Other:
• Evaluation of 45,X Turner syndrome patients
Evaluation of 45,X Turner syndrome patients

Locations

Country	Name	City	State
France	Robert Debre Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Overall score to the AQ (Autism Quotient) questionnaire.		2 days
Primary	SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.		2 days
Secondary	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