Body Representation, Neuropsychological Profile and Socio-emotional Development in Children With Overgrowth Syndromes, With a Specific Focus on Functional Assessment of Patients With Beckwith-Wiedemann Syndrome and Sotos Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 92
- 试验地点
- 1
- 主要终点
- Neuropsychological domains (Attention and Executive Functions, Language, Memory and Learning, Sensorimotor Functions, Social Perception; Visual-Spatial Functions)
研究概览
简要总结
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts. Beyond their primary physical problems, people with SS and BWS could present cognitive delay, socio-emotional and social behavior difficulties. For the SS, previous research reported impairments in specific neuropsychological domains and alterations of social behavior. Nevertheless, a description of the neuropsychological and behavioral profile in developmental age is still lacking. For the BWS, only in recent years alterations in social-cognitive development and in social behavior have started to gain attention of clinicians and researchers. However, no study has investigated the neuropsychological and behavioral functioning of children and adolescents with BWS. In this light, this research project aims at providing the first detailed description of the neuropsychological and behavioral profile of children and adolescents with SS and BWS.
Moreover, patients with SS and BWS experience structural alterations of their bodies and are early exposed to invasive diagnostical and medical procedures, which could interfere with the development of body representation. Body representation starts forming early in life through the integration of exteroceptive and interoceptive information, and plays a pivotal role in the social-cognitive development. Given the changes occurring in puberty and the crucial importance of body image in the relationship with peers, adolescence could be seen as a critical period for studying body representation. Thus, this project would investigate body representation at multiple levels (i.e. body image, body schema and interoceptive perception) and evaluate their impact on social-cognitive abilities in adolescents with SS and BWS. It is expected that both the clinical groups show alterations of body representation compared to healthy peers, and that these alterations could associate with impairments in affect recognition and regulation.
详细描述
Background and Rationale Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve alterations in dimensions of the whole body or of specific body parts. SS is characterized by advanced bone age, macrocephaly, characteristic facies and cognitive delay. For the latter aspect, recent studies has described impairments in specific neuropsychological domains and alterations of social behavior. However, this evidence has been gathered in small and non-uniform samples, thus requiring further investigation. Moreover, a description of the neuropsychological and behavioral profile of SS in developmental age is still lacking. BWS is presented with macroglossia, exomphalos, lateralized overgrowth and hyperinsulinism as cardinal features, and is often associated with Wilms tumor and pathologies of internal organs. While the medical care of these primary issues has greatly improved, recently alterations in social-cognitive development and in social behavior have started to gain attention of clinicians and researchers. Nevertheless, no study has investigated the neuropsychological and behavioral functioning of children and adolescents with BWS.
Body representation is a complex, multi-faceted construct encompassing all the processes that allow to perceive, to experience and to be aware of our body. Body representation starts forming from the first months of life through the integration of exteroceptive and interoceptive information, and plays a crucial role in social-cognitive development. Children with SS and BWS experience structural alterations of their bodies and are early exposed to invasive diagnostical and medical procedures, which could interfere with the development of body representation. Given the changes occurring in puberty and the crucial importance of body image in the relationship with peers, adolescence could be seen as a critical period for body representation. Here, multiple levels of body representation (i.e., body image, body schema and interoceptive accuracy) are investigated in adolescents with SS and BWS compared to a control group of peers with typical development.
Aims The current study would provide a full description of the neuropsychological and behavioral profile of children and adolescents with SS and BWS (Aim 1). Moreover, this study protocol aims at investigating alterations of body representation at multiple levels, i.e. body image, body schema and interoceptive perception, and at evaluating their impact on social-cognitive abilities in adolescents with SS and BWS (Aim 2).
Methodologies This observational study involves two distinct assessment procedures, which may be conducted in a single session or in two sessions.
For Aim 1, children with SS and BWS are administered selected subtests of the NEPSY-II, the most adopted battery in developmental age in conditions of typical and atypical development. The NEPSY-II provides a full description of the neuropsychological profile in six different domains (Attention and executive functions, Language, Memory and learning, Sensorimotor functions, Social Perception, Visuospatial skills). Colored and Standard Raven's Matrices are also administered so as to obtain a reliable index of general intellectual functioning. Moreover, a standardized assessment of academic skills is performed by means of specific tests of the Memory and Transfert (MT) group for reading, comprehension and mathematic. Lastly, parents are asked to fulfil a sheet collecting socio-demographic and anamnestic information and two standardized questionnaires: the Child Behavior Check List (CBCL) assessing the presence of emotional-behavioral problems, and the Autistic Quotient (AQ) questionnaire assessing autistic traits related to five areas of functioning (social skills, attention switching, attention to detail, communication and imagination). The entire procedure is administered in a single session of approximately two hours and 30 minutes, in which short breaks between activities (approximately 10 minutes) are allowed so as not to overexert the child.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 5 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •diagnosis of Sotos Syndrome/Beckwith-Wiedemann Syndrome
排除标准
- •severe motor and sensorial deficits that could interfere with tasks execution
- •Adolescents with typical development
- •Exclusion Criteria:
- •any neurological or psychiatric conditions (e.g., learning disability, behavioral disorders etc.)
结局指标
主要结局
Neuropsychological domains (Attention and Executive Functions, Language, Memory and Learning, Sensorimotor Functions, Social Perception; Visual-Spatial Functions)
时间窗: At the recruitment - 1 session of 2/2.30 hours
Mean scaled scores of each domain. Scaled scores range from 1 to 20, with mean = 10 and standard deviation (SD) = 3. Scores lower than 4 indicate specific difficulties.
Emotional-behavioral problems
时间窗: At the recruitment - 1 session of 10 minutes
Standardized scores at the the Child Behavior Check List. Standardized scores are reported with mean = 50 and SD = 10. Scores higher than 64 indicate possible problems, scores higher than 69 indicate clinical problems
次要结局
- Body Uneasiness Test questionnaire(At the recruitment- 1 session of 15 minutes)
- Peripersonal space and interpersonal distance(At the recruitment- 1 session of 20 minutes)
- Full-body illusion(At the recruitment- 1 session of 30 minutes)
- Heartbeat perception task and time estimation task(At the recruitment- 1 session of 15 minutes)
- Jumping Jack Paradigm(At the recruitment- 1 sessions of 10 minutes)