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