Social Cognition and Turner Syndrome

NCT01687842 | Completed

• 2 other identifiers: P110911ID RCB 2012-A00488-35
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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.

Conditions

Turner Syndrome

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (1)

• Socio-cognitive profile and parent of origin of the intact X chromosome

  2 days

Study Arms (1)

Turner syndrome patients

Evaluation of 45,X Turner syndrome patients

Other: Evaluation of 45,X Turner syndrome patients

Interventions

Evaluation of 45,X Turner syndrome patients OTHER

Evaluation of 45,X Turner syndrome patients

Turner syndrome patients

Eligibility Criteria

• Age: 8 Years - 18 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Turner syndrome patients

You may qualify if:

• 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).

You may not qualify if:

• Additional condition associated with an autism spectrum disorder
• Turner syndrome not related to an homogeneous 45,X karyotype

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Robert Debre Hospital

Paris, 75019, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Turner Syndrome

Condition Hierarchy (Ancestors)

Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Jean-Claude Carel, PHD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

• Delorme Richard, PHD

  APHP

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2012
• First Posted: September 19, 2012
• Study Start: March 1, 2013
• Primary Completion: March 1, 2017
• Study Completion: March 1, 2017
• Last Updated: November 18, 2019

Record last verified: 2016-10

Locations

FR (1)