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Completed

NCT Number: NCT01687842

Social Cognition and Turner Syndrome

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.

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Key information

Conditions

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

Age range

8 year–18 year

Sex eligibility

Female

Study type

Observational

Primary location

Robert Debre Hospital

Paris, 75019, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Evaluation of 45,X Turner syndrome patients

Other

Evaluation of 45,X Turner syndrome patients

Primary outcomes

  1. Overall score to the AQ (Autism Quotient) questionnaire.

    Time frame: 2 days

  2. SRS (Social Reciprocity Scale), in comparison to the expected scores for the general population.

    Time frame: 2 days

Secondary outcomes

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

    Time frame: 2 days

    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.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: COGNITUR

Important dates

Study start
2013
Primary completion
2017
Study completion
2017
First posted
Sep 19, 2012
Registry last updated
Nov 18, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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