Skip to main content
OpenTrials
Recruiting

NCT Number: NCT03812913

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Turner Syndrome Bone Diseases Bone Diseases, Developmental Bone Diseases, Endocrine Brain Diseases Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Chromosome Disorders Cognitive Functions Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Dwarfism Dwarfism, Pituitary Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hypopituitarism Hypothalamic Diseases Isolated Growth Hormone Deficiency Male Urogenital Diseases Musculoskeletal Diseases Nervous System Diseases Pediatrics Pituitary Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Social Cognition Urogenital Abnormalities Urogenital Diseases

Age range

7 year–16 year

Sex eligibility

Female

Study type

Observational

Primary location

CHU Rennes, Rennes, Ile Et Vilaine, France

Loading trial locations.

About this study

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).

Who can participate

Healthy volunteers accepted: No

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

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

Treatment and study plan

psychological evaluation

Behavioral
  • 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 outcomes

  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).

Study contacts

Contact information is provided by the study sponsor or research team.

Emmanuel Quemener, CRA

CONTACT

[email protected]

33(02)41-35-45-81

Régis Coutant, MD PhD

CONTACT

[email protected]

33(02)41-35-56-55

Sponsors and collaborators

Lead sponsor

University Hospital, Angers

Other Gov

Registry information

Acronym: ENEAST

Important dates

Study start
2019
Primary completion
2025
Study completion
2025
First posted
Jan 23, 2019
Registry last updated
Dec 30, 2024

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.