Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: psychological evaluation.
- Who it may be relevant to
- Registry conditions: Turner Syndrome, Isolated Growth Hormone Deficiency, Cognitive Functions, Social Cognition. Basic parameters: 7 years — 16 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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.
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).
Interventions
- 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.
Primary outcome measures
- Wechsler Intelligence Scale for Children (WISC-V) [Time frame: 3 months]
- Cognitive theory of mind first order [Time frame: 3 months]
- Cognitive theory of mind second order [Time frame: 3 months]
- Cognitive theory of mind advanced [Time frame: 3 months]
- Cognitive theory of mind : humor [Time frame: 3 months]
- Affective theory of mind : faux pas [Time frame: 3 months]
- Affective theory of mind : first order [Time frame: 3 months]
- Affective theory of mind : second order [Time frame: 3 months]
- Affective theory of mind : emotional inference [Time frame: 3 months]
- Emotional valence recognition : valence [Time frame: 3 months]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
France · 3 centers
- CHU Rennes — Rennes
- CHU Nantes — Nantes
- CHU Angers — Angers
Publications
- 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. PMID 25610415
- 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. PMID 25601846
- 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. PMID 8040158
- 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. PMID 2934210
- 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. PMID 6681741
- 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. PMID 22023559
Identifiers
NCT: NCT03812913 · 2018-A01478-47