Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

NCT03812913 | Recruiting

• 1 other identifier: 2018-A01478-47
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 3

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.

Conditions

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

Keywords

Turner syndrome; Cognitive Functions; Social Cognition; Pediatrics

Outcome Measures

Primary Outcomes (38)

• Wechsler Intelligence Scale for Children (WISC-V)

  intelligence scale.

  3 months

• Cognitive theory of mind first order

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

  3 months

• Cognitive theory of mind second order

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

  3 months

• Cognitive theory of mind advanced

  advanced theory of mind tasks (Happé, 1994)

  3 months

• Cognitive theory of mind : humor

  Humor understanding task

  3 months

• Affective theory of mind : faux pas

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

  3 months

• Affective theory of mind : first order

  First-order affective theory of mind tasks

  3 months

• Affective theory of mind : second order

  Second-order affective theory of mind tasks

  3 months

• Affective theory of mind : emotional inference

  Emotional inference for context test

  3 months

• Emotional valence recognition : valence

  Emotional valence rating from visual scenes

  3 months

• Facial emotion recogniton

  Facial emotion recognition task

  3 months

• Vocal emotion recognition

  Emotional prosody recognition task

  3 months

• Emotional regulation

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

  3 months

• Alexithymia

  Questionnaire d'alexithymie chez l'enfant (QAE)

  3 months

• Empathy

  Interpersonal Reactivity Index (IRI)

  3 months

• Oral Language comprehension abilities 1

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

  3 months

• Oral Language comprehension abilities 2

  Verbal comprehension index (from WISC-V)

  3 months

• Visual and visual-spatial abilities:1

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

  3 months

• Visual and visual-spatial abilities:2

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

  3 months

• Visual and visual-spatial abilities:3

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

  3 months

• Executive abilities-Verbal Working memory 1

  Verbal information updating task

  3 months

• Executive abilities-Visuo-Spatial Working memory 2

  Visuo-spatial information updating task

  3 months

• Executive abilities-Inhibition 1

  Stroop test.

  3 months

• Executive abilities-Inhibition 2

  Tapping test

  3 months

• Executive abilities-Inhibition 3

  non-verbal cancellation task

  3 months

• Executive abilities-Cognitive Flexibility 1

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

  3 months

• Executive abilities-Cognitive Flexibility 2

  Modified Wisconsin Card Sorting Test for children

  3 months

• Executive abilities-Cognitive Flexibility 3

  Trail Making Test

  3 months

• Executive abilities-Higher-order executive functions 1

  script generation task

  3 months

• Executive abilities-Higher-order executive functions 2

  Rey Complex Figure Test : Copy

  3 months

• Executive abilities in daily life

  Behavioral Rating Inventory of Executive Functions

  3 months

• Self Esteem

  Rosenberg self-esteem scale (1965).

  3 months

• Depression inventory

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

  3 months

• Anxiety inventory

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

  3 months

• Social desirability

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

  3 months

• social adjustment 1

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

  3 months

• social adjustment 2

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

  3 months

• behavioral adjustment

  Child Behavior Checklist (Achenbach, 1991).

  3 months

Study Arms (2)

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

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.

Turner Syndrome; isolated GHD

Eligibility Criteria

• Age: 7 Years - 16 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (3)

CHU Rennes

Rennes, Ile Et Vilaine, 35056, France

RECRUITING

CHU Nantes

Nantes, Loire Atlantique, 44300, France

RECRUITING

CHU Angers

Angers, Maine Et Loire, 49933, France

RECRUITING

Related Publications (6)

• 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.

  PMID: 25610415 BACKGROUND

• 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.

  PMID: 25601846 BACKGROUND

• 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.

  PMID: 8040158 BACKGROUND

• 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.

  PMID: 2934210 BACKGROUND

• 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.

  PMID: 6681741 BACKGROUND

• 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.

  PMID: 22023559 BACKGROUND

MeSH Terms

Conditions

Turner Syndrome; Dwarfism, Pituitary

Condition Hierarchy (Ancestors)

Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Hypopituitarism; Pituitary Diseases; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Officials

• Régis Coutant, MD PhD

  UH Angers

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Régis Coutant, MD PhD

CONTACT

33(02)41-35-56-55; ReCoutant@chu-angers.fr

Emmanuel Quemener, CRA

CONTACT

33(02)41-35-45-81; EmQuemener@chu-angers.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 29, 2018
• First Posted: January 23, 2019
• Study Start: September 5, 2019
• Primary Completion: December 5, 2025
• Study Completion: December 5, 2025
• Last Updated: December 30, 2024

Record last verified: 2024-12

Locations

FR (3)