Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Study Overview
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Brief Summary
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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.

Detailed Description
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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).

Official Title
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Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Conditions
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Turner Syndrome, Isolated Growth Hormone Deficiency, Cognitive Functions, Social Cognition, Pediatrics

Intervention / Treatment
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* Behavioral: psychological evaluation


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 7 Years
Maximum Age: 16 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Turner Syndrome<br>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<br>* 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.<br>|
| isolated GHD<br>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<br>* 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.<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Turner syndrome, Cognitive Functions, Social Cognition, Pediatrics