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Article Review - Research Paper Example

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Feero et al.’s (2012) “Genomic Medicine”: An article review Name Instructor Class 6 September 2012 Genetic research has developed new tools to recognize chromosome abnormalities that lead to or manifest intellectual disability and autism. In the article “Genomic Medicine: Genomics, Intellectual Disability, And Autism,” Feero et al…
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Article Review

The research question of this study is: What do current advances in genetic research say about the genetic causes of intellectual disability and autism, and what are some of the effective tools of diagnosing intellectual disability and autism? This paper 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 ascertain whether it is a systematic review or meta-analysis. After reading the article, it is inferred that it is a basic review of existing 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 relevant themes and recurring outcomes. The research findings of this article explained the potential genetic causes of intellectual disability. The article explained copy-number changes, deletions, 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 stressed that some patients with syndromic kinds of intellectual disability showed deletions in the same chromosomal region, where normal cohorts would have a different 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 novel 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 dysmorphic features, occasional cardiac and renal abnormalities, and seizures. These deletions were not present in healthy control subjects. This article also 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. This article also noted studies that analyzed genes on the X chromosome, partially because X-linked forms of intellectual disability can be passed on through unaffected 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 ... Read More
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