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儿科残疾学:综合征性精神运动发育迟缓儿童的综合方法

Pediatrics for Disability: A Comprehensive Approach to Children with Syndromic Psychomotor Delay.

机构信息

Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy.

Department of Pediatry, Sarn Raffaele Hospital, Rome, Italy.

出版信息

Curr Pediatr Rev. 2022;18(2):110-120. doi: 10.2174/1573396317666211129093426.

Abstract

Intellectual disability is the impairment of cognitive, linguistic, motor and social skills that occurs in the pediatric age and is also described by the term "mental retardation". Intellectual disability occurs in 3-28 % of the general population due to a genetic cause, including chromosome aberrations. Among people with intellectual disabilities, the cause of the disability was identified as a single gene disorder in up to 12 %, multifactorial disorders in up to 4 %, and genetic disorders in up to 8.5 %. Children affected by a malformation syndrome associated with mental retardation or intellectual disability represent a care challenge for the pediatrician. A multidisciplinary team is essential to manage the patient, thereby controlling the complications of the syndrome and promoting the correct psychophysical development. This requires continuous follow-up of these children by the pediatrician, which is essential for both the clinical management of the syndrome and facilitating the social integration of these children.

摘要

智力障碍是一种在儿童时期出现的认知、语言、运动和社交技能障碍,也被称为“智力迟钝”。由于遗传原因,包括染色体异常,智力障碍在普通人群中的发生率为 3-28%。在智力障碍患者中,残疾的原因被确定为单一基因疾病占 12%,多因素疾病占 4%,遗传疾病占 8.5%。患有智力迟钝或智力障碍相关畸形综合征的儿童是儿科医生面临的护理挑战。多学科团队对于管理患者至关重要,从而控制综合征的并发症并促进正确的心理生理发育。这需要儿科医生对这些儿童进行持续随访,这对于综合征的临床管理和促进这些儿童的社会融合都是必要的。

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