Children with Down Syndrome - Term Paper Example

Children with Down syndrome Name: University: Table of Contents Children with Down syndrome 1 Table of Contents 2 1.0 Introduction 3 2.0 Down syndrome 4 2.1 Identification of Down syndrome 4 2.3 Down syndrome immunodeficiency and Infections 5 3.0 Reading Interventions 7 3.1 Targeted Reading Instruction 10 4.0 Conclusion 11 5.0 References 12 Children with Down syndrome 1.0 Introduction The medical challenges and physical attributes related to Down syndrome (DS) may differ broadly from one child to another. Whereas a number of children with DS live healthy lives, some require lots of medical attention. Even if, DS is unpreventable, Canick et al. (2012) posit that through DNA sequencing of maternal plasma, DS can be detected during pregnancy. Importantly, the health challenges that go together with DS are treatable, and scores of resources are accessible to assist children as well as their families who have this condition. According to Ram and Chinen (2011), DS is one of the most prevalent genetic diseases and come with gastrointestinal and cardiac abnormalities, cognitive impairment, and other various clinical conditions. As evidenced in Ram and Chinen (2011) study, persons with DS have high infections occurrence, frequently on the upper respiratory tract, attributed by heightened severity as well as lengthened disease course, which to some extent are characterized to the immune system defect. The available information about the reading abilities among children with DS is limited, and numerous studies such as Naess et al. (2012) have exhibited that children with DS normally experience serious restraints in language understanding skills. Learning to read is without a doubt vital for success in education and effective autonomous livelihood, so the paper will examine children with Down syndrome, and the learning and reading intervention that can be used in them. 2.0 Down syndrome Down syndrome as per Antonarakis et al. (2010) is a condition concerning chromosomes, which is related to hypotonia and intellectual disability in childhood. DS is mostly brought about by trisomy 21, whereby all body cells have three copies of chromosome 21 rather than the normal two copies (Antonarakis et al., 2010). Apart from the continuous attribute of mental retardation, persons with DS normally show developmental abnormalities, congenital heart disease, Younger-Onset Alzheimer's, dysmorphic features, increased leukemia risk, among other health problems (Epstein, 2001). As evidenced in Epstein (2001) paper, persons with DS have a high risk of childhood leukemia, considering that blast cells’ trisomy of chromosome 21 is amongst the widespread chromosomal aneuploidies observed in childhood leukemia. The immune system abnormalities related to DS as per Ram and Chinen (2011) consist of: mild to moderate Alzheimer's and lymphocytopenia, with noticeable decline of naive lymphocytes, decreased antibody reaction to neutrophil chemotaxis defects and immunizations. Inadequate proof of genetic defects secondary to DS, which impacts the immune system has been provided by Ram and Chinen (2011), they include the possible impact of gene over-expression, especially Regulator of calcineurin 1 (RCAN1) and Superoxide dismutase 1 (SOD1). 2.1 Identification of Down syndrome The detection of DS pregnancy through massively parallel shotgun sequencing (MPSS) is extremely effective. According to Canick et al. (2012), several growths are turning out to be more common thanks to the heightened utilisation of assisted reproductive technologies. So, amongst monozygous twins that have been affected, trisomy discordance is uncommon, but amongst dizygous twins that have been affected, the unborn babies are constantly discordant. Considering that DS identification of maternal plasma through MPSS depend on a small increase in DNA fragments proportion, which are mapped to chromosome 21, so it is not clear whether DS in twins can dependably be detected. In Canick et al. (2012) literature review, a study by Sehnert and colleagues involved five twin pregnancies ( one was presumably monozygotic and another dizygotic for DS, and the other three were euploid), they were carried out in a training set and test set for the novel MPSS. Through this technique, Canick et al. (2012) analyzed the testing results in multiple pregnancies. With regard to their study results, the twin pregnancies’ study, as well as the underlying principle behind MPSS examination, it was logical to anticipate that at any rate DS can be detected in twin pregnancies. So, performance of the test twin pregnancies is same to that in singleton pregnancies, considering the limitation that the fetal fraction interpretation at lower levels can vary in twin as compared to singleton pregnancies. Canick et al. (2012) study finding underlines the value of regularly quantifying fetal fraction as an element of the interpretive and testing process. Importantly, they detected that women with twin were at increased threat for DS, and so the MPSS testing can be used to get rid of the risks as component of the decision-making process. 2.3 Down syndrome immunodeficiency and Infections According to Naess et al. (2012), medical care advances and early supervision of health have increased the length of life for children with DS. However, as indicated by Ram and Chinen (2011), repeated respiratory tract infections have been a crucial morbidity element for children with DS; still, hardly any study assist in defining the present causes, patterns, and effects of infections in people with DS. It seems that the respiratory infections’ frequency has dropped in the past decade, thanks to the management advancement of infections as well as the medical challenges awareness, which are common to people with DS. Even though the respiratory infections’ frequency amongst children with DS low than non-DS children, Ram and Chinen (2011) posit that children with DS have a long-drawn-out period of ill health and require more treatment to triumph over the similar infections in contrast to non-DS children. However, there is need for further research to determine whether this is attributed by an immune system’s inborn defect of people with DS or largely secondary to diverse DS-related attributes. Ram and Chinen (2011) further claim that genes of Chromosome 21 that can affect the immune response consist of RCAN1 as well as SOD1. Numerous parts of the immune system are disconnectedly influenced in subjects of DS, such as low responses to humoral immune and defective neutrophil chemotaxis, related to infectivity. Attributes that can bring immunodeficiency have been hypothesized in Ram and Chinen (2011) study, like accelerated immunosenescence and zinc deficiency, even though their medical consequences have are yet to be known. Basically, ordinary DS anatomical deficiencies agitate natural obstacles and promote the process of contagious disease and must be well thought-out during infections’ management for DS patients. Low antibody titers to regular childhood vaccines create the need for more doses of booster immunization. There is very high prevalence of Alzheimer's disease (AD) in persons living with DS, and Shi et al. (2012) believe it is primarily because of the existing APP gene on chromosome 21. Using embryonic stem cells (ESCs) as well as induced pluripotent stem cells (iPSCs) for a person with DS, Shi et al. (2012) established that cortical neurons produced from that genotype summed up scores of early AD aspects. 3.0 Reading Interventions Reading as well as language intervention for children with DS is an evidence-based program intended for teaching skills of language and reading to DS children. The intervention involves greatest practice in planned activities, and which is delivered in day after day teaching lessons. Through a randomized experiment, Burgoyne et al. (2012) established that through reading and language intervention the rates of progress were extremely improved in contrast to normal teaching. This intervention offers personalized language and reading instruction intended for meeting a certain learning needs of children with DS. This type of intervention has proven to be helpful for other children having reading and language challenges, and it involves best practice principles for every child. According to Burgoyne et al. (2012) DS is the leading genetic cause of disability in learning and is related to certain problems with communication and language. In spite of this, the majority of children with DS can be taught to read and learn, although levels of attainment differ widely. However, there remains little proof concerning how well to intervene so as to progress the language and reading skills of DS children. Even though plenty of evidence that backs phonics utilisation for the teaching of reading, there is a heated debate concerning the suitability of this intervention for children living with Down syndrome. Usually, children with Down syndrome exhibit excellent visual skills, phonological awareness deficits, as well as a firmer profile of word recognition as compare to decoding skills. Burgoyne et al. (2012) posits that, this profile has made numerous scholars to suggest the utilisation of whole-word strategies in teaching children with DS how to read. In the reading Triangle Model, such an intervention approach can be viewed as promoting the utilization of the semantic pathway where orthography is connected with the meanings of the word. Even though this may certainly boost the number of words recognized by children, it does almost nothing in promoting the ‘phonological’ pathway development that maps orthography to phonology, and which is essential for autonomous reading. As child’s skills for word recognition grow to be fluent and automatic, Naess et al. (2012) assert that language understanding variations progressively end up explaining a heightening variance proportion in the skills of understanding reading. A number of reviewed studies in Naess et al. (2012) literature have demonstrated that children with DS normally have severe restraints in skills for understanding language in contrast to naturally developing children of similar nonverbal mental age. Apparently, deficits in language will as well have an effect on their phonological skills, given that language is time and again considered as a crucial requirement for phonological awareness development as well as the ensuing decoding. In case it is factual, as has from time to time been argued, that skills for word recognition are a relative strength for DS children and that such children as a result have improved technical skills for reading as compared to their nonverbal mental age, ultimately issues with reading intellectual capacity will not be associated with poor decoding skills, but with language deficits (Naess et al., 2012). Although some studies have been unsuccessful in detecting a dissociation between nonverbal cognitive and vocabulary production capability in down syndrome, Yoder et al. (2014) posit that most existing reports indicate a pattern of dawdling early lexical development, which are followed by deficits of later spoken language that are inconsistent as compared to the level of worldwide cognitive impairment in children with down syndrome. In Yoder et al. (2014), the verified that children with down syndrome show slower development in expressive language as compared to children with intellectual disability of non-DS etiology. Besides that, Yoder et al. (2014) established that toddlers with Down syndrome ha lower levels of spoken language as compared with children with intellectual disability not because of DS, even subsequent to managing chronological age (CA), mental Age (MA), and Intelligence Quotient (IQ). Regrettably, excessive deficits in spoken vocabulary can continue in spite of children with Down syndrome getting early intervention services. So, the existence of Down syndrome can impact growth of spoken language as well as results amongst children with intellectual disability. Burgoyne et al. (2012) intervention was new in its incorporated approach to language and reading instruction for DS children and educationally it is practical. Even though the sizes effect achieved were modest in addition to little proof of shifting to wider measures of language and literacy, Burgoyne et al. (2012) study managed to offer proof that supports the intervention efficacy. Their intervention is cost-effective given that the teaching assistants (TAs) were by then handed over to the children with DS; in addition, the group for controlling was conservative bearing in mind that every child worked with a committed TA delivering teaching during the period of waiting. Intervention responses war uneven given that younger children younger got extra intervention, and had improved receptive vocabulary skills. Still, there is gap of knowledge since have not examined how best to modify intervention so as to meet the needs of every child children with DS. 3.1 Targeted Reading Instruction According to Cologon et al. (2011), phonic reading instruction is ideal for children with typical development, but for children with Down syndrome and intellectual disabilities they ideal method for receiving reading instruction is through whole-word or sight-word approach. Different from whole-language theory that stresses the utilisation of vocabulary in functional and meaningful contexts; Cologon et al. (2011) whole-word reading instruction approaches consists of preparation in recognizing single words that have been presented as wholes. With regard to children, specifically those with DS, there is a significant backing for a whole-word or sight-word approach to reading instruction. Even though a number of scholars in Cologon et al. (2011) study suggested that children with DS derive benefit from instruction in strategies for phonological reading subsequent to establishing a considerable sight-word language, they failed to find out whether children with DS can gain from phonics instruction introduction before the formation of this sight-word language. Furthermore, the depiction concerning the relationship between reading and phonological awareness is not understandable for children with DS since it is for typically developing children. The certainly of whether phonological awareness instruction can be helpful in developing reading for children with Down syndrome has been given minimal attention in scores of research literature, and accessible proof is time and again contradictory. In general, as evidenced in Cologon et al. (2011) research, persons who have Down syndrome normally have improved sight-word reading or word-identification skills as compared to non-word decoding skills. Research for youth and grownups with Down syndrome, on the other hand, established that the non-word decoding and word attack skills for readers who were most skilled were higher as compared to their word reading or word-identification skills. Therefore, Cologon et al. (2011) study results offer proof that targeted reading instruction may improve the reading ability and phonological awareness of children with DS. In particular, partakers in their study exhibited improved phonic decoding skills, phonological awareness as well as short-passage and word comprehension subsequent to ten sessions of reading intervention. As anticipated, with regard to the espoused intervention, changes were superior for nearly all partakers on the word training- survey as compared on the word generalization survey in addition to other reading measures. Nonetheless, noteworthy progresses were established for every measure, even though care has to be taken in results generalization from small-scale studies like that of Cologon et al. (2011). Importantly, the considerable progresses in untrained reading and words generalization show that children with DS can develop skills for alphabetic decoding as well as generalize their skills for reading to untrained words. 4.0 Conclusion In conclusion, as evidenced in the research paper, the verity that children with DS experience difficulties in learning and reading has made researchers to investigate how to improve the cognitive abilities of the affected children. Research has indicated that use of technologies to identify DS during pregnancies can reduce the lack of knowledge about the existence of DS amongst children. Many studies on Down syndrome have concentrated on the strategies to successfully manage it, but their findings are not conclusive; thus, creating need for future research. Intervention to learning and reading for children with DS has been reported, and most are effective in improving the reading ability as well as phonological awareness children for children with Down syndrome. However infections, immunodeficiency, and intellectual disability in children with DS can reduce their reading and learning ability; thus, making some interventions irrelevant. 5.0 References Antonarakis, S. E., Lyle, R. D., Reymond, E. T., & Deutsch, S. (2010). Chromosome 21 and down syndrome: from genomics to pathophysiology. Nature Reviews Genetics, 5(10), 725-738. Burgoyne, K., Duff, F. J., Clarke, P. J., Buckley, S., Snowling, M. J., & Hulme, C. (2012). Efficacy of a reading and language intervention for children with Down syndrome: a randomized controlled trial. Journal of Child Psychology and Psychiatry, 53(10), 1044–1053. Canick, J. A., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Ehrich, M., Boom, D. v., . . . Palomaki, G. E. (2012). DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenatal Diagnosis, 32, 730–734. Cologon, K., Cupples, L., & Wyver, S. (2011). Effects of Targeted Reading Instruction on Phonological Awareness and Phonic Decoding in Children with Down Syndrome. American Journal on Intellectual and Developmental Disabilities, 116(2), 111-129. Epstein, C. J. (2001). The Metabolic and Molecular Bases of Inherited Disease. In C. R. Scriver, W. S. Sly, A. L. Beaudet, B. Childs, D. Valle, K. W. Kinzler, & B. Vogelstein. New York: McGraw-Hill. Naess, K.-A. B., Melby-Lervåg, M., Hulme, C., & Lyster, S.-A. H. (2012). Reading skills in children with Down syndrome: A meta-analytic review. Research in Developmental Disabilities, 33(2), 737–747. Ram, G., & Chinen, J. (2011). Infections and immunodeficiency in Down syndrome. Clinical & Experimental Immunology, 164(1), 9–16. Shi, Y., Kirwan, P., Smith, J., MacLean, G., Orkin, S. H., & Livesey, F. J. (2012). A Human Stem Cell Model of Early Alzheimer’s Disease Pathology in Down Syndrome. Science Translational Medicine, 4(124), 724-743. Yoder, P., Woynaroski, T., Fey, M., & Warren, S. (2014). Effects of Dose Frequency of Early Communication Intervention in Young Children With and Without Down Syndrome. American Journal on Intellectual and Developmental Disabilities, 119(1), 17-32. Read More