Tuesday, May 14, 2019

Article Review Research Paper Example | Topics and Well Written Essays - 750 words - 1

Article Review - Research Paper practice sessionThe research question of this study is What do current advances in genetic research say roughly the genetic causes of intellectual disablement and autism, and what are some of the effective tools of diagnosing intellectual disability and autism? This subject reviews this article through describing its research design and findings, as well as identifying flaws and relevance of the study in society and understanding human development. This study did not explain its research design, and it does not specifically jibe whether it is a systematic review or meta-analysis. After reading the article, it is inferred that it is a basic review of existent studies on the genome of autism and intellectual disabilities. The sampling of articles came from respected journals. It is possible that Feero et al. (2012) conducted the study using peer-reviewed journal databases and it reached its findings using pertinent themes and recurring outcomes. T he research findings of this article explained the potential genetic causes of intellectual disability. The article explained copy-number changes, cut of meats, and duplications. A copy-number change refers to the deletion or duplication of an elongation of DNA as compared with the reference human genome. Feero et al. (2012) used research that upset that some patients with syndromic kinds of intellectual disability showed deletions in the same chromosomal region, where normal cohorts would suffer a polar number or set of chromosomes. These researchers stressed the identification of specific copy-number changes in affected patients, when compared with control subjects, where they showed that figment microdeletion and microduplication syndromes were connected with intellectual disability and autism. For three studies that this article used, they determined that heterozygous deletions of 17q21.31 were connected with moderate-to-severe intellectual disability, hypotonia, facial dys morphic features, occasional cardiac and renal abnormalities, and seizures. These deletions were not present in healthy control subjects. This article withal noted that deletions of 16p11.2 were present in around 1% of those with autism spectrum disorders, but these deletions were also related with intellectual disability with no autistic features. Feero et al. (2012) recommended physicians to conduct chromosome microarray analysis and not the usual standard karyotype analysis, when conducting early diagnostic workup of children with developmental delays and intellectual disability. Feero et al. (2012) also showed that there is a significant overlap among the copy-number changes that have been determined for intellectual disorders. Studies showed microdeletions of 15q13.3 that are related to intellectual disability, autism, and schizophrenia. Moreover, microdeletions of 1q21 are connected with autism, schizophrenia, and epilepsy and, most frequently, with intellectual disability. T his article also noted studies that analyze genes on the X chromosome, partially because X-linked forms of intellectual disability can be passed on through superior(predicate) females in families, permitting pedigree analysis. Moreover, mutations in PTEN are linked with autism and macrocephaly in some patients and mutations in SHANK3 have also been determined. Feero et al. (2012) highlighted the importance of sequencing of the protein-coding parts

No comments:

Post a Comment

Note: Only a member of this blog may post a comment.