Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 70
- 试验地点
- 6
- 主要终点
- Empathy
研究概览
简要总结
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.
详细描述
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).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 7 Years 至 16 Years（Child）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Empathy
时间窗: 3 months
Interpersonal Reactivity Index (IRI)
Executive abilities-Inhibition 3
时间窗: 3 months
non-verbal cancellation task
Facial emotion recogniton
时间窗: 3 months
Facial emotion recognition task
Vocal emotion recognition
时间窗: 3 months
Emotional prosody recognition task
Affective theory of mind : emotional inference
时间窗: 3 months
Emotional inference for context test
Cognitive theory of mind second order
时间窗: 3 months
second-order theory of mind tasks Perner \& Wimmer, 1983)
Wechsler Intelligence Scale for Children (WISC-V)
时间窗: 3 months
intelligence scale.
Cognitive theory of mind first order
时间窗: 3 months
First order theory of mind tasks (Baron-Cohen et al., 1985)
Cognitive theory of mind advanced
时间窗: 3 months
advanced theory of mind tasks (Happé, 1994)
Cognitive theory of mind : humor
时间窗: 3 months
Humor understanding task
Emotional valence recognition : valence
时间窗: 3 months
Emotional valence rating from visual scenes
Affective theory of mind : faux pas
时间窗: 3 months
Faux pas recognition test (Baron Cohen et al., 1999)
Affective theory of mind : first order
时间窗: 3 months
First-order affective theory of mind tasks
Affective theory of mind : second order
时间窗: 3 months
Second-order affective theory of mind tasks
Emotional regulation
时间窗: 3 months
Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA)
Alexithymia
时间窗: 3 months
Questionnaire d'alexithymie chez l'enfant (QAE)
Oral Language comprehension abilities 1
时间窗: 3 months
Comprehension of Instructions (NEPSY-II, Korkman et al., 2012)
Oral Language comprehension abilities 2
时间窗: 3 months
Verbal comprehension index (from WISC-V)
Visual and visual-spatial abilities:1
时间窗: 3 months
Arrows subtest (NEPSY-II - Korkman et al., 2012),
Visual and visual-spatial abilities:2
时间窗: 3 months
Picture Puzzles subtest (NEPSY-II - Korkman et al., 2012)
Visual and visual-spatial abilities:3
时间窗: 3 months
Benton Facial Recognition Test (Benton et al., 1983)
Executive abilities-Verbal Working memory 1
时间窗: 3 months
Verbal information updating task
Executive abilities-Visuo-Spatial Working memory 2
时间窗: 3 months
Visuo-spatial information updating task
Executive abilities-Inhibition 1
时间窗: 3 months
Stroop test.
Executive abilities-Inhibition 2
时间窗: 3 months
Tapping test
Executive abilities-Cognitive Flexibility 1
时间窗: 3 months
Verbal fluency task (NEPSY-II Korkman et al., 2012)
Executive abilities-Cognitive Flexibility 2
时间窗: 3 months
Modified Wisconsin Card Sorting Test for children
Executive abilities-Cognitive Flexibility 3
时间窗: 3 months
Trail Making Test
Executive abilities-Higher-order executive functions 1
时间窗: 3 months
script generation task
Executive abilities-Higher-order executive functions 2
时间窗: 3 months
Rey Complex Figure Test : Copy
Executive abilities in daily life
时间窗: 3 months
Behavioral Rating Inventory of Executive Functions
Self Esteem
时间窗: 3 months
Rosenberg self-esteem scale (1965).
social adjustment 2
时间窗: 3 months
Conners' Teacher Rating Scale-Revised: Short Form (Conners, 1997)
Depression inventory
时间窗: 3 months
Depression: Children's Depression Inventory (Kovacks \& Beck, 1977).
Anxiety inventory
时间窗: 3 months
Revised Children's Manifest Anxiety Scale (Reynolds \& Richmond, 1999).
Social desirability
时间窗: 3 months
Children's Social Desirability Scale (Crandall et al., 1965)
social adjustment 1
时间窗: 3 months
Conners' Parent Rating Scale-Revised: Short Form (Conners, 1997)
behavioral adjustment
时间窗: 3 months
Child Behavior Checklist (Achenbach, 1991).
次要结局
未报告次要终点