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Neuropsychological Assessment of Children and Adolescents With Turner Syndrome (ENEAST)

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ClinicalTrials.gov Identifier: NCT03812913
Recruitment Status : Not yet recruiting
First Posted : January 23, 2019
Last Update Posted : January 23, 2019
Sponsor:
Collaborator:
University of Angers, Angers
Information provided by (Responsible Party):
University Hospital, Angers

Brief Summary:
Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born. These young patients described difficulties making friends, understanding others' emotions and intentions, and controlling their own emotions. Difficulties in these domains could led to social withdrawal, to reduced social skills and could have a significant impact on self esteem and mental health as well as on long-term academic and social functioning in affected individuals. The purpose of this project is to identify functional and dysfunctional cognitive and socio-cognitive abilities in these young patients which could account social difficulties described by some of them and their family. To this end, 35 girls with TS and 35 girls with isolated growth hormone deficiency and normal cerebral MRI will be recruited. Subjects will be 7 to 16 years and 11 months of age. Socio-cognitive and cognitive functions will be assessed with neuropsychological and experimental tasks. Questionnaires completed by patient, parents or teacher, will evaluate social and behavioral functioning.

Condition or disease Intervention/treatment
Turner Syndrome Isolated Growth Hormone Deficiency Cognitive Functions Social Cognition Pediatrics Behavioral: psychological evaluation

Detailed Description:

Cross-sectional study (2 groups : Turner syndrome, isolated growth hormone deficiency), not randomized, controlled, associating several specialized centers in endocrine diseases.

The pediatric endocrinologist of the participating centers will contact parents of each patient or voluntary child/adolescent in order to inform them of the study.

The visit of inclusion will take place in the participant center during a routine monitoring visit.

The first visit (V1) will take place immediately after the visit of inclusion in order to avoid a specific displacement for the needs for the study. The second visit (V2) will take place in participant's home. Each visit (V1 and V2) will last half-day. The period between V1 and V2 will be three months maximum.

The visits V1 and V2 will be carried out by neuropsychologists of the Laboratoire de Psychologie des Pays de la Loire (LPPL - EA 4638).


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Study Type : Observational
Estimated Enrollment : 70 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Estimated Study Start Date : February 2019
Estimated Primary Completion Date : May 2021
Estimated Study Completion Date : November 2021


Group/Cohort Intervention/treatment
Turner Syndrome
  • 35 girls with Turner syndrome (except patients with part of a Y chromosome in their karyotype and r(X) cases).
  • age : 7 years -16 years and 11 months.
  • Psychological evaluation of cognition, social cognition and affective cognition
Behavioral: psychological evaluation
  • Neuropsychological and experimental tasks will assess cognitive and socio-cognitive functions.
  • Questionnaires will assess psychoaffective aspects (depression, anxiety, self-esteem), and social and behavioral functioning.

isolated GHD
  • 35 girls with isolated Growth Hormone Deficiency (GHD).
  • age : 7 years -16 years and 11 months.
  • Psychological evaluation of cognition, social cognition and affective cognition
Behavioral: psychological evaluation
  • Neuropsychological and experimental tasks will assess cognitive and socio-cognitive functions.
  • Questionnaires will assess psychoaffective aspects (depression, anxiety, self-esteem), and social and behavioral functioning.




Primary Outcome Measures :
  1. Wechsler Intelligence Scale for Children (WISC-V) [ Time Frame: 3 months ]
    intelligence scale.

  2. Cognitive theory of mind first order [ Time Frame: 3 months ]
    First order theory of mind tasks (Baron-Cohen et al., 1985)

  3. Cognitive theory of mind second order [ Time Frame: 3 months ]
    second-order theory of mind tasks Perner & Wimmer, 1983)

  4. Cognitive theory of mind advanced [ Time Frame: 3 months ]
    advanced theory of mind tasks (Happé, 1994)

  5. Cognitive theory of mind : humor [ Time Frame: 3 months ]
    Humor understanding task

  6. Affective theory of mind : faux pas [ Time Frame: 3 months ]
    Faux pas recognition test (Baron Cohen et al., 1999)

  7. Affective theory of mind : first order [ Time Frame: 3 months ]
    First-order affective theory of mind tasks

  8. Affective theory of mind : second order [ Time Frame: 3 months ]
    Second-order affective theory of mind tasks

  9. Affective theory of mind : emotional inference [ Time Frame: 3 months ]
    Emotional inference for context test

  10. Emotional valence recognition : valence [ Time Frame: 3 months ]
    Emotional valence rating from visual scenes

  11. Facial emotion recogniton [ Time Frame: 3 months ]
    Facial emotion recognition task

  12. Vocal emotion recognition [ Time Frame: 3 months ]
    Emotional prosody recognition task

  13. Emotional regulation [ Time Frame: 3 months ]
    Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA)

  14. Alexithymia [ Time Frame: 3 months ]
    Questionnaire d'alexithymie chez l'enfant (QAE)

  15. Empathy [ Time Frame: 3 months ]
    Interpersonal Reactivity Index (IRI)

  16. Oral Language comprehension abilities 1 [ Time Frame: 3 months ]
    Comprehension of Instructions (NEPSY-II, Korkman et al., 2012)

  17. Oral Language comprehension abilities 2 [ Time Frame: 3 months ]
    Verbal comprehension index (from WISC-V)

  18. Visual and visual-spatial abilities:1 [ Time Frame: 3 months ]
    Arrows subtest (NEPSY-II - Korkman et al., 2012),

  19. Visual and visual-spatial abilities:2 [ Time Frame: 3 months ]
    Picture Puzzles subtest (NEPSY-II - Korkman et al., 2012)

  20. Visual and visual-spatial abilities:3 [ Time Frame: 3 months ]
    Benton Facial Recognition Test (Benton et al., 1983)

  21. Executive abilities-Verbal Working memory 1 [ Time Frame: 3 months ]
    Verbal information updating task

  22. Executive abilities-Visuo-Spatial Working memory 2 [ Time Frame: 3 months ]
    Visuo-spatial information updating task

  23. Executive abilities-Inhibition 1 [ Time Frame: 3 months ]
    Stroop test.

  24. Executive abilities-Inhibition 2 [ Time Frame: 3 months ]
    Tapping test

  25. Executive abilities-Inhibition 3 [ Time Frame: 3 months ]
    non-verbal cancellation task

  26. Executive abilities-Cognitive Flexibility 1 [ Time Frame: 3 months ]
    Verbal fluency task (NEPSY-II Korkman et al., 2012)

  27. Executive abilities-Cognitive Flexibility 2 [ Time Frame: 3 months ]
    Modified Wisconsin Card Sorting Test for children

  28. Executive abilities-Cognitive Flexibility 3 [ Time Frame: 3 months ]
    Trail Making Test

  29. Executive abilities-Higher-order executive functions 1 [ Time Frame: 3 months ]
    script generation task

  30. Executive abilities-Higher-order executive functions 2 [ Time Frame: 3 months ]
    Rey Complex Figure Test : Copy

  31. Executive abilities in daily life [ Time Frame: 3 months ]
    Behavioral Rating Inventory of Executive Functions

  32. Self Esteem [ Time Frame: 3 months ]
    Rosenberg self-esteem scale (1965).

  33. Depression inventory [ Time Frame: 3 months ]
    Depression: Children's Depression Inventory (Kovacks & Beck, 1977).

  34. Anxiety inventory [ Time Frame: 3 months ]
    Revised Children's Manifest Anxiety Scale (Reynolds & Richmond, 1999).

  35. Social desirability [ Time Frame: 3 months ]
    Children's Social Desirability Scale (Crandall et al., 1965)

  36. social adjustment 1 [ Time Frame: 3 months ]
    Conners' Parent Rating Scale-Revised: Short Form (Conners, 1997)

  37. social adjustment 2 [ Time Frame: 3 months ]
    Conners' Teacher Rating Scale-Revised: Short Form (Conners, 1997)

  38. behavioral adjustment [ Time Frame: 3 months ]
    Child Behavior Checklist (Achenbach, 1991).



Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years to 16 Years   (Child)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
  • 35 patients with Turner syndrome
  • 35 patients with isolated growth hormone deficiency
Criteria

INCLUSION CRITERIA

Turner syndrome group :

  • girls with diagnosed Turner syndrome.

Isolated GHD group :

  • girls with diagnosed isolated growth hormone deficiency

All participants :

  • age between 7 years to 16 years and 11 months.
  • informed consent signed by the participant and her parents (or her legal representatives)
  • being registered in the national social security system

EXCLUSION CRITERIA :

Turner syndrome group :

  • patients with chronic pathology other than Turner syndrome.
  • karyotype : part of a Y chromosome and r(X) cases.
  • medical treatment other than those usually prescribed in patients with Turner syndrome.

Isolated GHD group :

  • patients with chronic pathology other than isolated growth hormone deficiency.
  • medical treatment other than those usually prescribed in patients with isolated growth hormone deficiency.

All participants :

  • diagnosed intellectual disability (IQ<70) or intellectual giftedness
  • history of acquired brain injury
  • sensory disturbances (auditory or visual) incompatible with the achievement of neuropsychological tasks.
  • insufficient French language proficiency

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03812913


Contacts
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Contact: Régis Coutant, MD PhD 33(02)41-35-56-55 ReCoutant@chu-angers.fr
Contact: Emmanuel Quemener, CRA 33(02)41-35-45-81 EmQuemener@chu-angers.fr

Sponsors and Collaborators
University Hospital, Angers
University of Angers, Angers
Investigators
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Principal Investigator: Régis Coutant, MD PhD UH Angers

Publications:
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Responsible Party: University Hospital, Angers
ClinicalTrials.gov Identifier: NCT03812913     History of Changes
Other Study ID Numbers: 2018-A01478-47
First Posted: January 23, 2019    Key Record Dates
Last Update Posted: January 23, 2019
Last Verified: January 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University Hospital, Angers:
Turner syndrome
Cognitive Functions
Social Cognition
Pediatrics

Additional relevant MeSH terms:
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Dwarfism, Pituitary
Dwarfism
Syndrome
Turner Syndrome
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Disease
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Bone Diseases, Endocrine
Hypopituitarism
Pituitary Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Endocrine System Diseases
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