Social Cognition and Turner Syndrome
Condition: Turner Syndrome
MeSH terms: Turner Syndrome; Gonadal Dysgenesis; Syndrome
Study type: Observational

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.
    

Intervention name(s): Evaluation of 45,X Turner syndrome patients
Intervention type(s): Other
Intervention description(s): Evaluation of 45,X Turner syndrome patients
Observational model: Family-Based
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Turner syndrome patients
      
Biospecimen description: 
      Buccal DNA samples will be collected in the patient and her mother