Paediatric Neurology Department, Hôpital Femme Mère Enfants, University of Lyon, Bron, France; Rare Intellectual Disabilities Reference Centre, Institut des Sciences Cognitives, University of Lyon, Bron, France.
Handb Clin Neurol. 2020;174:113-126. doi: 10.1016/B978-0-444-64148-9.00009-0.
Intellectual disability (ID) or intellectual developmental disability (IDD) is one of the commonest neurodevelopmental disabilities worldwide and is known to affect 2% of the population of France or just over a million people. It is marked by a reduced ability to reason and understand abstract or complex information, which heavily restricts school learning and limits the individual's ability to adapt to daily life, including their transition to adulthood. Intellectual handicap or mental handicap results from an interaction between the individual vulnerability of a person with ID and their ecosystem, in other words, their family, and cultural and institutional environment, which can be a barrier or a facilitator. Identifying a child with an unusual developmental trajectory requires professionals to have a good understanding of psychomotor development. ID may be isolated but is very often intertwined with other neurodevelopmental disorders, including autism, motor or sensory difficulties (hearing, vision), serious sleep and eating disorders, and medical conditions such as epilepsy, as well as a wide variety of psychopathologic problems, including anxiety, depression, and emotional regulation disorders. There are many causes of ID. More than half of all cases are genetic in origin, and there are several hundreds of rare diseases about which little is known so far. The use of new genetic techniques (high-throughput sequencing) should reduce the number of people who are undiagnosed and give way to a comprehensive diagnostic approach based on clinical practice. A regular multidimensional evaluation of cognitive, educational, socioemotional, and adaptive skills throughout life provides a better understanding of how individuals with ID function and will contribute toward the planning of more appropriate strategies for learning, care, and support, leading to a better quality of life and participation in society.
智力残疾(ID)或智力发育障碍(IDD)是全球最常见的神经发育障碍之一,据了解,法国每 2%的人口或略多于 100 万人患有这种疾病。它的特点是推理和理解抽象或复杂信息的能力降低,这严重限制了学校学习,并限制了个人适应日常生活的能力,包括他们向成年期的过渡。智力障碍或精神障碍是由 ID 患者的个体脆弱性与其生态系统(即他们的家庭以及文化和机构环境)之间的相互作用引起的,这些环境可能是障碍,也可能是促进因素。识别具有异常发育轨迹的儿童需要专业人员对心理运动发育有很好的了解。ID 可能是孤立的,但通常与其他神经发育障碍交织在一起,包括自闭症、运动或感觉困难(听力、视力)、严重的睡眠和饮食障碍以及癫痫等医疗状况,以及各种精神病理问题,包括焦虑、抑郁和情绪调节障碍。ID 有很多原因。超过一半的病例是遗传性的,目前还有数百种罕见疾病知之甚少。新的遗传技术(高通量测序)的使用应该会减少未确诊的人数,并采用基于临床实践的全面诊断方法。在整个生命周期中对认知、教育、社会情感和适应技能进行定期多维评估,可以更好地了解 ID 患者的功能,并有助于制定更适合学习、护理和支持的策略,从而提高生活质量和参与社会的能力。