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

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.

Study Overview

• Status: Unknown
• Conditions: Isolated Growth Hormone Deficiency; Turner Syndrome; Pediatrics; Social Cognition; Cognitive Functions
• Intervention / Treatment: 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).

• Study Type: Observational
• Enrollment (Anticipated): 70

Contacts and Locations

• Study Contact: Name: Régis Coutant, MD PhD; Phone Number: 33(02)41-35-56-55; Email: ReCoutant@chu-angers.fr
• Study Contact Backup: Name: Emmanuel Quemener, CRA; Phone Number: 33(02)41-35-45-81; Email: EmQuemener@chu-angers.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years to 16 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: University Hospital, Angers
• Collaborators: University of Angers, Angers
• Investigators: Principal Investigator: Régis Coutant, MD PhD, UH Angers

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Anticipated): February 1, 2019
• Primary Completion (Anticipated): May 1, 2021
• Study Completion (Anticipated): November 1, 2021

Study Registration Dates

• First Submitted: October 29, 2018
• First Submitted That Met QC Criteria: January 17, 2019
• First Posted (Actual): January 23, 2019

Study Record Updates

• Last Update Posted (Actual): January 23, 2019
• Last Update Submitted That Met QC Criteria: January 17, 2019
• Last Verified: January 1, 2019

More Information

Terms related to this study

• Keywords: Pediatrics; Social Cognition; Cognitive Functions; Turner syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Hypothalamic Diseases; Bone Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Bone Diseases, Endocrine; Pituitary Diseases; Chromosome Disorders; Dwarfism; Bone Diseases, Developmental; Hypopituitarism; Sex Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Syndrome; Dwarfism, Pituitary; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: 2018-A01478-47

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No