Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

University Hospital, Angers70 enrolled

Overview

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.

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

Conditions

Turner Syndrome

Eligibility

Sex: FEMALEMin age: 7 YearsMax age: 16 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Wechsler Intelligence Scale for Children (WISC-V)

intelligence scale.

Time frame: 3 months

Cognitive theory of mind first order

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

Time frame: 3 months

Cognitive theory of mind second order

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

Time frame: 3 months

Cognitive theory of mind advanced

advanced theory of mind tasks (Happé, 1994)

Time frame: 3 months

Cognitive theory of mind : humor

Humor understanding task

Time frame: 3 months

Affective theory of mind : faux pas

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

Time frame: 3 months

Affective theory of mind : first order

First-order affective theory of mind tasks

Time frame: 3 months

Affective theory of mind : second order

Second-order affective theory of mind tasks

Time frame: 3 months

Affective theory of mind : emotional inference

Emotional inference for context test

Time frame: 3 months

Emotional valence recognition : valence

Emotional valence rating from visual scenes

Time frame: 3 months

Facial emotion recogniton

Facial emotion recognition task

Time frame: 3 months

Vocal emotion recognition

Emotional prosody recognition task

Time frame: 3 months

Emotional regulation

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

Time frame: 3 months

Alexithymia

Questionnaire d'alexithymie chez l'enfant (QAE)

Time frame: 3 months

Empathy

Interpersonal Reactivity Index (IRI)

Time frame: 3 months

Oral Language comprehension abilities 1

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

Time frame: 3 months

Oral Language comprehension abilities 2

Verbal comprehension index (from WISC-V)

Time frame: 3 months

Visual and visual-spatial abilities:1

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

Time frame: 3 months

Visual and visual-spatial abilities:2

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

Time frame: 3 months

Visual and visual-spatial abilities:3

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

Time frame: 3 months

Executive abilities-Verbal Working memory 1

Verbal information updating task

Time frame: 3 months

Executive abilities-Visuo-Spatial Working memory 2

Visuo-spatial information updating task

Time frame: 3 months

Executive abilities-Inhibition 1

Stroop test.

Time frame: 3 months

Executive abilities-Inhibition 2

Tapping test

Time frame: 3 months

Executive abilities-Inhibition 3

non-verbal cancellation task

Time frame: 3 months

Executive abilities-Cognitive Flexibility 1

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

Time frame: 3 months

Executive abilities-Cognitive Flexibility 2

Modified Wisconsin Card Sorting Test for children

Time frame: 3 months

Executive abilities-Cognitive Flexibility 3

Trail Making Test

Time frame: 3 months

Executive abilities-Higher-order executive functions 1

script generation task

Time frame: 3 months

Executive abilities-Higher-order executive functions 2

Rey Complex Figure Test : Copy

Time frame: 3 months

Executive abilities in daily life

Behavioral Rating Inventory of Executive Functions

Time frame: 3 months

Self Esteem

Rosenberg self-esteem scale (1965).

Time frame: 3 months

Depression inventory

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

Time frame: 3 months

Anxiety inventory

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

Time frame: 3 months

Social desirability

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

Time frame: 3 months

social adjustment 1

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

Time frame: 3 months

social adjustment 2

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

Time frame: 3 months

behavioral adjustment

Child Behavior Checklist (Achenbach, 1991).

Time frame: 3 months

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Overview

Conditions

Interventions

Eligibility

Locations (3)

Outcomes

Primary Outcomes

Central Contacts