Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Pediatrics Clinical Trial

— ENEAST  

Official title:

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT03812913
• Other study ID #: 2018-A01478-47
• Status: Not yet recruiting
• Start date: February 2019
• Est. completion date: November 2021

Study information

• Verified date: January 2019
• Source: University Hospital, Angers
• Contact: Régis Coutant, MD PhD
• Phone: 33(02)41-35-56-55
• Email: ReCoutant[@]chu-angers.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 70
• Est. completion date: November 2021
• Est. primary completion date: May 2021
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 7 Years to 16 Years

Eligibility

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

Related Conditions & MeSH terms

• Cognitive Functions
• Dwarfism, Pituitary
• Gonadal Dysgenesis
• Isolated Growth Hormone Deficiency
• Pediatrics
• Primary Ovarian Insufficiency
• Social Cognition
• Syndrome
• Turner Syndrome

Intervention

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.

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Angers	University of Angers, Angers

References & Publications (6)

Baron-Cohen S, Leslie AM, Frith U. Does the autistic child have a "theory of mind"? Cognition. 1985 Oct;21(1):37-46. — View 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. — View Citation

Happé 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. — View Citation

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. — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Wechsler Intelligence Scale for Children (WISC-V)	intelligence scale.	3 months
Primary	Cognitive theory of mind first order	First order theory of mind tasks (Baron-Cohen et al., 1985)	3 months
Primary	Cognitive theory of mind second order	second-order theory of mind tasks Perner & Wimmer, 1983)	3 months
Primary	Cognitive theory of mind advanced	advanced theory of mind tasks (Happé, 1994)	3 months
Primary	Cognitive theory of mind : humor	Humor understanding task	3 months
Primary	Affective theory of mind : faux pas	Faux pas recognition test (Baron Cohen et al., 1999)	3 months
Primary	Affective theory of mind : first order	First-order affective theory of mind tasks	3 months
Primary	Affective theory of mind : second order	Second-order affective theory of mind tasks	3 months
Primary	Affective theory of mind : emotional inference	Emotional inference for context test	3 months
Primary	Emotional valence recognition : valence	Emotional valence rating from visual scenes	3 months
Primary	Facial emotion recogniton	Facial emotion recognition task	3 months
Primary	Vocal emotion recognition	Emotional prosody recognition task	3 months
Primary	Emotional regulation	Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA)	3 months
Primary	Alexithymia	Questionnaire d'alexithymie chez l'enfant (QAE)	3 months
Primary	Empathy	Interpersonal Reactivity Index (IRI)	3 months
Primary	Oral Language comprehension abilities 1	Comprehension of Instructions (NEPSY-II, Korkman et al., 2012)	3 months
Primary	Oral Language comprehension abilities 2	Verbal comprehension index (from WISC-V)	3 months
Primary	Visual and visual-spatial abilities:1	Arrows subtest (NEPSY-II - Korkman et al., 2012),	3 months
Primary	Visual and visual-spatial abilities:2	Picture Puzzles subtest (NEPSY-II - Korkman et al., 2012)	3 months
Primary	Visual and visual-spatial abilities:3	Benton Facial Recognition Test (Benton et al., 1983)	3 months
Primary	Executive abilities-Verbal Working memory 1	Verbal information updating task	3 months
Primary	Executive abilities-Visuo-Spatial Working memory 2	Visuo-spatial information updating task	3 months
Primary	Executive abilities-Inhibition 1	Stroop test.	3 months
Primary	Executive abilities-Inhibition 2	Tapping test	3 months
Primary	Executive abilities-Inhibition 3	non-verbal cancellation task	3 months
Primary	Executive abilities-Cognitive Flexibility 1	Verbal fluency task (NEPSY-II Korkman et al., 2012)	3 months
Primary	Executive abilities-Cognitive Flexibility 2	Modified Wisconsin Card Sorting Test for children	3 months
Primary	Executive abilities-Cognitive Flexibility 3	Trail Making Test	3 months
Primary	Executive abilities-Higher-order executive functions 1	script generation task	3 months
Primary	Executive abilities-Higher-order executive functions 2	Rey Complex Figure Test : Copy	3 months
Primary	Executive abilities in daily life	Behavioral Rating Inventory of Executive Functions	3 months
Primary	Self Esteem	Rosenberg self-esteem scale (1965).	3 months
Primary	Depression inventory	Depression: Children's Depression Inventory (Kovacks & Beck, 1977).	3 months
Primary	Anxiety inventory	Revised Children's Manifest Anxiety Scale (Reynolds & Richmond, 1999).	3 months
Primary	Social desirability	Children's Social Desirability Scale (Crandall et al., 1965)	3 months
Primary	social adjustment 1	Conners' Parent Rating Scale-Revised: Short Form (Conners, 1997)	3 months
Primary	social adjustment 2	Conners' Teacher Rating Scale-Revised: Short Form (Conners, 1997)	3 months
Primary	behavioral adjustment	Child Behavior Checklist (Achenbach, 1991).	3 months