Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

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).

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