背景:发育障碍(DD)是与身体功能损害相关的总称,学习,语言,或行为领域。智力残疾(ID)是一种导致认知或智力功能延迟的发育残疾,比如推理,学习,和解决问题,和适应性行为,包括社会和实际生活技能。DD可能是由于多种因素,从环境暴露到基因突变,研究表明,高达40%的DDs可能是由遗传问题引起的。
方法:在本案例研究中,我们介绍了一名18岁的国际收养的女性美籍华人患者,有已知的发育迟缓史,智力残疾,斜视,和先天性心脏缺陷,在就诊前没有经过遗传原因的检测。当用染色体微阵列评估时,患者在与Cri-du-chat综合征相关的5号染色体短臂上显示缺失.这种染色体缺失可能是她发育迟缓史的解释,智力残疾,先天性心脏病,除了她的住院史和幼儿时期多重照顾者转变的创伤。遗传学家和遗传咨询师将患者转诊为进一步评估。
结论:这个案例强调了发育迟缓的根本原因通常是多因素的,并强调了全面医学评估的重要性,包括基因检测,对于有智力障碍的儿童。使用这种方法,医疗保健专业人员可以识别潜在的诊断,并为家庭提供更有针对性的资源。
BACKGROUND: Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues.
METHODS: In this
case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor.
CONCLUSIONS: This
case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.