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Turner SyndromeENEASTNCT03812913

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

An observational study of Turner Syndrome and Isolated Growth Hormone Deficiency, run by University Hospital, Angers at 3 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 7 to 16 years, women only
What is being tested?
psychological evaluation
How many people
70 participants
Where
3 sitesFrance
Study dates
5 Sep 2019to 27 May 2025
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 7 to 16 years
  • Women only
  • No healthy volunteers
  • Child

Study population: * 35 patients with Turner syndrome * 35 patients with isolated growth hormone deficiency

Who may be able to join

  • 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

Who cannot join

  • 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.
Show all 12Show fewer
  • 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

Trial locations and contacts

3 sites in 1 country.

France3 sites

  • CHU Angers

    Angers, Maine et Loire, 49933

  • CHU Nantes

    Nantes, Loire Atlantique, 44300

  • CHU Rennes

    Rennes, Ile Et Vilaine, 35056

Other trials in France

About this study

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.

Read the 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).

Being tested
psychological evaluation
Keywords
Turner syndrome, Cognitive Functions, Social Cognition, Pediatrics
Medical subject headings
Turner Syndrome, Dwarfism, Pituitary

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • psychological evaluationBehavioural

    • 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.
Study groups in NCT03812913
Study groupRoleWhat they receive
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
Receives: Behavioral: psychological evaluation
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
Receives: Behavioral: psychological evaluation

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Wechsler Intelligence Scale for Children (WISC-V)

    intelligence scale.

    Measured: 3 months

  2. Cognitive theory of mind first order

    First order theory of mind tasks (Baron-Cohen et al., 1985)

    Measured: 3 months

  3. Cognitive theory of mind second order

    second-order theory of mind tasks Perner \& Wimmer, 1983)

    Measured: 3 months

  4. Cognitive theory of mind advanced

    advanced theory of mind tasks (Happé, 1994)

    Measured: 3 months

  5. Cognitive theory of mind : humor

    Humor understanding task

    Measured: 3 months

  6. Affective theory of mind : faux pas

    Faux pas recognition test (Baron Cohen et al., 1999)

    Measured: 3 months

  7. Affective theory of mind : first order

    First-order affective theory of mind tasks

    Measured: 3 months

  8. Affective theory of mind : second order

    Second-order affective theory of mind tasks

    Measured: 3 months

  9. Affective theory of mind : emotional inference

    Emotional inference for context test

    Measured: 3 months

  10. Emotional valence recognition : valence

    Emotional valence rating from visual scenes

    Measured: 3 months

  11. Facial emotion recogniton

    Facial emotion recognition task

    Measured: 3 months

  12. Vocal emotion recognition

    Emotional prosody recognition task

    Measured: 3 months

  13. Emotional regulation

    Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA)

    Measured: 3 months

  14. Alexithymia

    Questionnaire d'alexithymie chez l'enfant (QAE)

    Measured: 3 months

  15. Empathy

    Interpersonal Reactivity Index (IRI)

    Measured: 3 months

  16. Oral Language comprehension abilities 1

    Comprehension of Instructions (NEPSY-II, Korkman et al., 2012)

    Measured: 3 months

  17. Oral Language comprehension abilities 2

    Verbal comprehension index (from WISC-V)

    Measured: 3 months

  18. Visual and visual-spatial abilities:1

    Arrows subtest (NEPSY-II - Korkman et al., 2012),

    Measured: 3 months

  19. Visual and visual-spatial abilities:2

    Picture Puzzles subtest (NEPSY-II - Korkman et al., 2012)

    Measured: 3 months

  20. Visual and visual-spatial abilities:3

    Benton Facial Recognition Test (Benton et al., 1983)

    Measured: 3 months

  21. Executive abilities-Verbal Working memory 1

    Verbal information updating task

    Measured: 3 months

  22. Executive abilities-Visuo-Spatial Working memory 2

    Visuo-spatial information updating task

    Measured: 3 months

  23. Executive abilities-Inhibition 1

    Stroop test.

    Measured: 3 months

  24. Executive abilities-Inhibition 2

    Tapping test

    Measured: 3 months

  25. Executive abilities-Inhibition 3

    non-verbal cancellation task

    Measured: 3 months

  26. Executive abilities-Cognitive Flexibility 1

    Verbal fluency task (NEPSY-II Korkman et al., 2012)

    Measured: 3 months

  27. Executive abilities-Cognitive Flexibility 2

    Modified Wisconsin Card Sorting Test for children

    Measured: 3 months

  28. Executive abilities-Cognitive Flexibility 3

    Trail Making Test

    Measured: 3 months

  29. Executive abilities-Higher-order executive functions 1

    script generation task

    Measured: 3 months

  30. Executive abilities-Higher-order executive functions 2

    Rey Complex Figure Test : Copy

    Measured: 3 months

  31. Executive abilities in daily life

    Behavioral Rating Inventory of Executive Functions

    Measured: 3 months

  32. Self Esteem

    Rosenberg self-esteem scale (1965).

    Measured: 3 months

  33. Depression inventory

    Depression: Children's Depression Inventory (Kovacks \& Beck, 1977).

    Measured: 3 months

  34. Anxiety inventory

    Revised Children's Manifest Anxiety Scale (Reynolds \& Richmond, 1999).

    Measured: 3 months

  35. Social desirability

    Children's Social Desirability Scale (Crandall et al., 1965)

    Measured: 3 months

  36. social adjustment 1

    Conners' Parent Rating Scale-Revised: Short Form (Conners, 1997)

    Measured: 3 months

  37. social adjustment 2

    Conners' Teacher Rating Scale-Revised: Short Form (Conners, 1997)

    Measured: 3 months

  38. behavioral adjustment

    Child Behavior Checklist (Achenbach, 1991).

    Measured: 3 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted23 Jan 2019
  2. Study start5 Sep 2019
  3. Primary completion13 May 2025
  4. Study completion27 May 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case-control
Time perspective
Prospective
Enrolment
70 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03812913
Sponsor's protocol ID
2018-A01478-47
Acronym
ENEAST
Status last verified
Aug 2026
First submitted
29 Oct 2018
Last updated
18 Aug 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • LoBue V, Thrasher C. The Child Affective Facial Expression (CAFE) set: validity and reliability from untrained adults. Front Psychol. 2015 Jan 6;5:1532. doi: 10.3389/fpsyg.2014.01532. eCollection 2014.

    PubMed 25610415

  • Olszanowski M, Pochwatko G, Kuklinski K, Scibor-Rylski M, Lewinski P, Ohme RK. Warsaw set of emotional facial expression pictures: a validation study of facial display photographs. Front Psychol. 2015 Jan 5;5:1516. doi: 10.3389/fpsyg.2014.01516. eCollection 2014.

    PubMed 25601846

  • Happe FG. An advanced test of theory of mind: understanding of story characters' thoughts and feelings by able autistic, mentally handicapped, and normal children and adults. J Autism Dev Disord. 1994 Apr;24(2):129-54. doi: 10.1007/BF02172093.

    PubMed 8040158

  • Baron-Cohen S, Leslie AM, Frith U. Does the autistic child have a "theory of mind"? Cognition. 1985 Oct;21(1):37-46. doi: 10.1016/0010-0277(85)90022-8. No abstract available.

    PubMed 2934210

  • Wimmer H, Perner J. Beliefs about beliefs: representation and constraining function of wrong beliefs in young children's understanding of deception. Cognition. 1983 Jan;13(1):103-28. doi: 10.1016/0010-0277(83)90004-5. No abstract available.

    PubMed 6681741

  • Gullone E, Taffe J. The Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA): a psychometric evaluation. Psychol Assess. 2012 Jun;24(2):409-17. doi: 10.1037/a0025777. Epub 2011 Oct 24.

    PubMed 22023559

Questions about this trial

What is this clinical trial studying?

An observational study of Turner Syndrome and Isolated Growth Hormone Deficiency, run by University Hospital, Angers at 3 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 8 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 18 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 3 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Wechsler Intelligence Scale for Children (WISC-V) (time frame: 3 months). The study lists 38 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03812913, which also lists 6 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Aug 2026.

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