Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked
试验速览
- 阶段
- 不适用
- 入组人数
- 573
- 试验地点
- 2
- 主要终点
- Clinical phenotyping of neurodevelopment: acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale)
研究概览
简要总结
X-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986). This heterogeneous group of XLMR includes dozens of rare diseases, some of them affecting only a few patients. Molecular diagnosis is currently available in France for 25 XLMR genes, within the national network of XLMR molecular diagnosis. However, whereas some syndromes such as Fragile X syndrome, are now well clinically defined, this is not the case for recently identified syndromes for which very few data is available, preventing clinicians to focus molecular diagnosis on a specific gene.
Therefore, this study aims to :
- Achieve a description of the clinical phenotype specific to each XLMR gene (Phase 1 of the study, n=200)
- Characterize the cognitive learning mechanisms and dysfunctional neural networks involved (Phase 2 of the study, n=75, i.e. 5 groups of 15 patients with a mutation in the same gene). These two elements constitute key steps to develop appropriate rehabilitation strategies and targeted pharmacological therapies.
Moreover, the impact of mental retardation on the primary caregiver within the family and the induced burden in terms of psycho-social, organizational and economic burden will also be assessed. These elements, directly related to the patient's environment, are very important to characterize in order to better understand the consequences of each gene mutation (Phase 3 of the study, n=283). For example, it is necessary to better understand the impact of Fragile X syndrome in terms of capacity and behavior, lifestyle, and health care needs of the patients While advancing knowledge allows to consider innovative therapeutics, the implementation of these therapeutics and assessment of their impact on the patients' life trajectory, require precise characterization of the population to be treated in medico socioeconomic terms.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age : from 2 to 60 years old
- •Having a pathogenic mutation of one of the X chromosome genes associated with :
- •For boys : mental retardation (IQ<70), and/or developmental delay (DQ<70) and/or pervasive developmental disorder (autism, Asperger...)
- •For girls : mental retardation (IQ<70), and/or developmental delay (DQ<70) and/or pervasive developmental disorder (autism, Asperger...) and/or specific learning disabilities
排除标准
- •patient or parents refusal to participate in the study
- •genetic polymorphism in a X chromosome gene involved in mental retardation but not considered as pathogenic
- •person refusing to be informed if an abnormality would be discovered during medical examination
研究组 & 干预措施
X-linked Mental retardation
This is an observational study which will allow to precisely describe the phenotype associated to each X-linked mental retardation gene.
干预措施: Neuropsychological, cognitive and behavioral assessment (Behavioral)
Control Group
This group will be compared to X-linked mental retardation group in order to obtain a baseline on some cognitive tests.
干预措施: Neuropsychological, cognitive and behavioral assessment (Behavioral)
结局指标
主要结局
Clinical phenotyping of neurodevelopment: acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale)
时间窗: at inclusion (Day 1)
The primary outcome measure is composite and includes acquisition age of early developmental skills (motor and language), and the adaptive skills profile (Vineland adaptive behavioral scale). The Vineland adaptive behavioral scale performed during a semi-structured interview of the parents of the patient, will assess the adaptive behavior profile of the patient (including communication, daily living skills, socialization, motricity and the global adaptive score).
次要结局
- Birth parameters: weight, height and head circumference and APGAR score(at inclusion (Day 1))
- Peabody Picture Vocabulary Test Revised(at inclusion (Day 1))
- Analogical visual reasoning task (behavior assessment)(at inclusion (Day 1))
- Raven's Progressive matrices(at inclusion (Day 1))
- Edinburgh handedness test(at inclusion (Day 1))
- Nisonger child behavior rating form(at inclusion (Day 1))
- Kinematic analysis of a grasping movement(at inclusion (Day 1))
- Intellectual functioning assessment (Wechsler scale)(at inclusion (Day 1))
- Caregiver Burden Inventory Modified(at inclusion (Day 1))
- Analogical visual reasoning task (eye-tracking assessment)(at inclusion (Day 1))
- Structural neuroimaging by MRI(at inclusion (Day 1))
- Functional neuroimaging by MRI(at inclusion (Day 1))
- School curriculum: age and type of shool(at inclusion (Day 1))