Clinical trial NCT03812913: Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Official title: Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Turner Syndrome
Isolated Growth Hormone Deficiency
Cognitive Functions
Social Cognition
Pediatrics
Keywords: Turner syndrome
Cognitive Functions
Social Cognition
Pediatrics
Lead sponsor: University Hospital, Angers
Sponsor class: OTHER_GOV
First posted: 2019-01-23
Enrollment: 70
Sex: FEMALE
Minimum age (years): 7
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * 35 patients with Turner syndrome
* 35 patients with isolated growth hormone deficiency

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.

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).

Eligibility criteria: 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

Primary outcomes:
measure: Wechsler Intelligence Scale for Children (WISC-V)
timeFrame: 3 months
measure: Cognitive theory of mind first order
timeFrame: 3 months
measure: Cognitive theory of mind second order
timeFrame: 3 months
measure: Cognitive theory of mind advanced
timeFrame: 3 months
measure: Cognitive theory of mind : humor
timeFrame: 3 months
measure: Affective theory of mind : faux pas
timeFrame: 3 months
measure: Affective theory of mind : first order
timeFrame: 3 months
measure: Affective theory of mind : second order
timeFrame: 3 months
measure: Affective theory of mind : emotional inference
timeFrame: 3 months
measure: Emotional valence recognition : valence
timeFrame: 3 months
measure: Facial emotion recogniton
timeFrame: 3 months
measure: Vocal emotion recognition
timeFrame: 3 months
measure: Emotional regulation
timeFrame: 3 months
measure: Alexithymia
timeFrame: 3 months
measure: Empathy
timeFrame: 3 months
measure: Oral Language comprehension abilities 1
timeFrame: 3 months
measure: Oral Language comprehension abilities 2
timeFrame: 3 months
measure: Visual and visual-spatial abilities:1
timeFrame: 3 months
measure: Visual and visual-spatial abilities:2
timeFrame: 3 months
measure: Visual and visual-spatial abilities:3
timeFrame: 3 months
measure: Executive abilities-Verbal Working memory 1
timeFrame: 3 months
measure: Executive abilities-Visuo-Spatial Working memory 2
timeFrame: 3 months
measure: Executive abilities-Inhibition 1
timeFrame: 3 months
measure: Executive abilities-Inhibition 2
timeFrame: 3 months
measure: Executive abilities-Inhibition 3
timeFrame: 3 months
measure: Executive abilities-Cognitive Flexibility 1
timeFrame: 3 months
measure: Executive abilities-Cognitive Flexibility 2
timeFrame: 3 months
measure: Executive abilities-Cognitive Flexibility 3
timeFrame: 3 months
measure: Executive abilities-Higher-order executive functions 1
timeFrame: 3 months
measure: Executive abilities-Higher-order executive functions 2
timeFrame: 3 months
measure: Executive abilities in daily life
timeFrame: 3 months
measure: Self Esteem
timeFrame: 3 months
measure: Depression inventory
timeFrame: 3 months
measure: Anxiety inventory
timeFrame: 3 months
measure: Social desirability
timeFrame: 3 months
measure: social adjustment 1
timeFrame: 3 months
measure: social adjustment 2
timeFrame: 3 months
measure: behavioral adjustment
timeFrame: 3 months
Secondary outcomes:
Other outcomes:
Locations:
city: Rennes
country: France
facility: CHU Rennes
state: Ile Et Vilaine
city: Nantes
country: France
facility: CHU Nantes
state: Loire Atlantique
city: Angers
country: France
facility: CHU Angers
state: Maine Et Loire
Study officials:
affiliation: UH Angers
name: Régis Coutant, MD PhD
role: PRINCIPAL_INVESTIGATOR
References:
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citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.