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CompletedNCT03812913ENEASTUpdated Aug 18, 2026

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

An observational study in Turner Syndrome, Isolated Growth Hormone Deficiency and Cognitive Functions, sponsored by University Hospital, Angers. Completed at 3 sites in France. Open to female participants aged 7 Years to 16 Years. Per ClinicalTrials.gov, last updated 2026-08-18.

Sponsored by University Hospital, Angers · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
70
Ages
7 Years to 16 Years
Sex
Female
01

Study 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.

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).

02

Conditions studied

  • Turner Syndrome
  • Isolated Growth Hormone Deficiency
  • Cognitive Functions
  • Social Cognition
  • Pediatrics

Keywords

  • Turner syndrome
  • Cognitive Functions
  • Social Cognition
  • Pediatrics
03

In context

Turner Syndrome

115 studies on the registry are indexed under Turner Syndrome; 33 are open to participants now.

This study's enrollment of 70 is below the median of 125 across 63 observational studies indexed under Turner Syndrome.

Browse Turner Syndrome studies →

Lead sponsor

University Hospital, Angers is the lead sponsor of 464 studies on the registry; 116 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
7 Years to 16 Years
Sexes eligible
Female
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

  • 35 patients with Turner syndrome
  • 35 patients with isolated growth hormone deficiency

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

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
05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
70 participants (actual)
Patient registry
No

Groups and cohorts

  • 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

  • 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

Interventions

  • Behavioralpsychological 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.

06

What researchers measure

Primary outcomes

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

    intelligence scale.

    Time frame: 3 months

  2. Cognitive theory of mind first order

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

    Time frame: 3 months

  3. Cognitive theory of mind second order

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

    Time frame: 3 months

  4. Cognitive theory of mind advanced

    advanced theory of mind tasks (Happé, 1994)

    Time frame: 3 months

  5. Cognitive theory of mind : humor

    Humor understanding task

    Time frame: 3 months

  6. Affective theory of mind : faux pas

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

    Time frame: 3 months

  7. Affective theory of mind : first order

    First-order affective theory of mind tasks

    Time frame: 3 months

  8. Affective theory of mind : second order

    Second-order affective theory of mind tasks

    Time frame: 3 months

  9. Affective theory of mind : emotional inference

    Emotional inference for context test

    Time frame: 3 months

  10. Emotional valence recognition : valence

    Emotional valence rating from visual scenes

    Time frame: 3 months

  11. Facial emotion recogniton

    Facial emotion recognition task

    Time frame: 3 months

  12. Vocal emotion recognition

    Emotional prosody recognition task

    Time frame: 3 months

  13. Emotional regulation

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

    Time frame: 3 months

  14. Alexithymia

    Questionnaire d'alexithymie chez l'enfant (QAE)

    Time frame: 3 months

  15. Empathy

    Interpersonal Reactivity Index (IRI)

    Time frame: 3 months

  16. Oral Language comprehension abilities 1

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

    Time frame: 3 months

  17. Oral Language comprehension abilities 2

    Verbal comprehension index (from WISC-V)

    Time frame: 3 months

  18. Visual and visual-spatial abilities:1

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

    Time frame: 3 months

  19. Visual and visual-spatial abilities:2

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

    Time frame: 3 months

  20. Visual and visual-spatial abilities:3

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

    Time frame: 3 months

  21. Executive abilities-Verbal Working memory 1

    Verbal information updating task

    Time frame: 3 months

  22. Executive abilities-Visuo-Spatial Working memory 2

    Visuo-spatial information updating task

    Time frame: 3 months

  23. Executive abilities-Inhibition 1

    Stroop test.

    Time frame: 3 months

  24. Executive abilities-Inhibition 2

    Tapping test

    Time frame: 3 months

  25. Executive abilities-Inhibition 3

    non-verbal cancellation task

    Time frame: 3 months

  26. Executive abilities-Cognitive Flexibility 1

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

    Time frame: 3 months

  27. Executive abilities-Cognitive Flexibility 2

    Modified Wisconsin Card Sorting Test for children

    Time frame: 3 months

  28. Executive abilities-Cognitive Flexibility 3

    Trail Making Test

    Time frame: 3 months

  29. Executive abilities-Higher-order executive functions 1

    script generation task

    Time frame: 3 months

  30. Executive abilities-Higher-order executive functions 2

    Rey Complex Figure Test : Copy

    Time frame: 3 months

  31. Executive abilities in daily life

    Behavioral Rating Inventory of Executive Functions

    Time frame: 3 months

  32. Self Esteem

    Rosenberg self-esteem scale (1965).

    Time frame: 3 months

  33. Depression inventory

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

    Time frame: 3 months

  34. Anxiety inventory

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

    Time frame: 3 months

  35. Social desirability

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

    Time frame: 3 months

  36. social adjustment 1

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

    Time frame: 3 months

  37. social adjustment 2

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

    Time frame: 3 months

  38. behavioral adjustment

    Child Behavior Checklist (Achenbach, 1991).

    Time frame: 3 months

07

Study locations

3 sites
  • CHU Rennes
    Rennes, Ile Et Vilaine 35056, France
  • CHU Nantes
    Nantes, Loire Atlantique 44300, France
  • CHU Angers
    Angers, Maine et Loire 49933, France
08

References and documents

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 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Aug 18, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT03812913
Lead sponsor
University Hospital, Angers
Responsible party
Sponsor
First posted
Jan 23, 2019
Start date
Sep 5, 2019
Primary completion
May 13, 2025
Completion
May 27, 2025
Last update
Aug 18, 2026

Study contacts

Régis Coutant, MD PhD
principal investigator · UH Angers

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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