Bruns Deborah A
Southern Illinois University Carbondale, Carbondale, Illinois.
Am J Med Genet A. 2015 Aug;167A(8):1807-15. doi: 10.1002/ajmg.a.37102. Epub 2015 Apr 5.
Trisomy 18 and trisomy 13 are conditions often referred to as "incompatible with life" or "lethal anomalies." If there is long-term survival, the outlook is considered "grim." Developmental status is presumed to be minimal. Yet, Baty et al. [1994; 49:189-194] described a variety of developmental skills in their sample. An additional 22 children with trisomy 18 and eight with trisomy 13 are described here. A range of developmental skills is noted with strengths in the language and communication, gross and fine motor and social-emotional domains including indicating preferences, exploration of objects and a range of voluntary mobility. These results serve to expand the knowledge base on developmental status for these groups and advance the need to further explore developmental abilities rather than focus on deficits. Avenues for future research, implications, and recommendations are provided.
18三体综合征和13三体综合征通常被称为“与生命不相容”或“致命性异常”。如果有长期存活的情况,预后被认为“严峻”。发育状况被推测为极低。然而,巴蒂等人[1994年;49:189 - 194]在他们的样本中描述了各种发育技能。本文描述了另外22名18三体综合征患儿和8名13三体综合征患儿。注意到一系列发育技能,在语言和沟通、大肌肉和精细动作以及社会情感领域有优势,包括表明偏好、探索物体和一系列自主移动能力。这些结果有助于扩展这些群体发育状况的知识库,并进一步推动对发育能力进行探索的必要性,而不是只关注缺陷。本文还提供了未来研究的途径、影响和建议。