Cognitive and Adaptive Effects of Early Growth Hormone Treatment in Prader-Willi Syndrome Patients: A Cohort Study.

BACKGROUND: Prader-Willi Syndrome (PWS) is a genetically based neurodevelopmental disease characterized by obesity, hyperphagia, and mild to moderate intellectual disability. Treatment with growth hormone (GH) could provide cognitive benefits. The objective of the present study was to compare the cognitive and adaptive performance of 31 patients with genetically confirmed PWS grouped in two cohorts, one treated with GH before 2 years old (Group 1) and the other receiving the treatment later (Group 2). METHOD: We compared two variables necessary to diagnose intellectual disability: intellectual performance, using the Weschler scales, and adaptive behavior, using the DABS scale. The scores were analyzed by means of non-parametric statistical tests. RESULTS: Group 1 (n = 10) obtained higher and statistically significant scores in Total Intelligence Quotient (TIQ), General Ability Index (GAI), and General Adaptive Behavior (GAB), implying better cognitive and adaptive performance compared to Group 2. CONCLUSIONS: Treatment with GH should be administered in the early stage of development (before 2 years old) to obtain greater benefits at the cognitive and adaptive levels.

Study of the Interaction between Executive Function and Adaptive Behavior at School in Girls with Fragile X Syndrome.

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7-16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.

Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome.

Girls with Fragile-X-Syndrome (FXS) present high levels of social anxiety, social avoidance, extreme shyness, tendency to social isolation, poor eye contact, learning difficulties, and depression. The aims of the present study, which is based on a group of young females with FXS are: 1) to analyze the possible associations between emotion recognition, theory of mind, and social anxiety, and adaptive behavior, and emotional state; 2) to study the relationship between intelligence quotient (IQ) and adaptive behavior; and 3) to assess whether social anxiety is more prevalent in girls with FXS. The study has 40 female participants aged between 7 and 16 years (26 positive full mutation FXS and 14 as a control group). A neuropsychological assessment was conducted using the following tests: WISC-V, NEPSY-II, SENA, ADHD Rating Scale, BAS, and ABAS-II. In comparison with the control group, the group with FXS presented a greater association between IQ and self-direction ability, and between emotion recognition and leadership. The FXS group presented higher levels of social anxiety and shyness. In the group of girls with FXS, IQ may have prognostic value for both self-direction ability and social adaptation level.

Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior.

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. The objective of this research is to analyze the relationship between linguistic functions and performance of the following neuropsychological functions: executive, quantitative reasoning, social perception, behavior, social skills, and adaptive behavior. A neuropsychological and behavioral evaluations were carried out with a group of 26 girls with FXS, and 14 girls without FXS as a control group, using standardized tests. The two groups were homogeneous in age and IQ. Significant differences were found between groups in the relationship between some language processes: inhibition, auditory working memory, cognitive flexibility, level of social adaptation, self-direction, conceptual adaptation, academic skills, leadership ability, theory of mind, and arithmetic. In the group of girls with FXS, it was found that different aspects of language influence some of the executive functions evaluated, in addition to some specific aspects of social perception, adaptive behavior, and quantitative reasoning, in different ways. Future research should incorporate the study of the influence of other cognitive variables such as visual perception and executive function on behavioral, social, and adaptive aspects to know the real influence of all the cognitive variables on the behavior of girls with FXS.

Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior.

INTRODUCTION: The aim of this study is to describe the relationship between executive function (EF) and performance in different areas of the neurocognitive profile in young girls with Fragile-X-Syndrome (FXS). METHOD: A neuropsychological assessment was carried out to 40 female participants aged 7-16 years (26 FXS, 14 control group). RESULTS: Regarding intellectual ability, in the group of girls with FXS 3.84 % of the participants obtained IQ scores in the range of moderate ID (IQ 35-40 to 49), 46.15 % in the range of mild ID (IQ 50-70), 38.46 % in the borderline range (IQ 70-85), and 11.53 % within the average range (IQ > 85). EF was found to have a greater influence on adaptive behavior, arithmetic ability, theory of mind, leadership, social integration, social competence, and anxiety/shyness in the group with FXS. CONCLUSIONS: In girls with FXS, EF showed a greater influence on adaptive behavior, arithmetic ability, and social domain.

Bullying Victimization in Young Females with Fragile-X-Syndrome.

The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates. This finding suggests that problems with social interaction and communication in the group of girls with FXS could lead to difficulties in interpreting social signals and identifying situations of bullying correctly, placing them in a very vulnerable situation.