Another option is microsuction, which involves inserting a needle through the tympanic membrane and using it to draw out the fluid. The upside to this procedure is that the fluid does not end up in the external auditory canal and have to be cleaned, which is especially helpful in children with Down syndrome with narrow canals. The downside of microsuction is that it often requires several procedures. Like glue ear, cerumen impaction is a very common otologic pathology, and it has a high incidence in individuals with Down syndrome. It is a common cause of conductive hearing loss. Ear wax is meant to protect the skin of the canal, especially when it is filled with water. Normally, the wax should move towards the opening of the ear it is easily washed away.

As mentioned before, individuals with Down syndrome often have cerumen that is abnormally hard or thick and accumulates quickly in a narrow ear canal and may quickly block the canal with partial or full occlusion. This may result in a reversible conductive hearing loss. The combination of the accumulation of thick cerumen and auditory canal stenosis can quickly lead to a conductive hearing loss. The symptoms of impacted cerumen are earaches, the sensation of plugged ears, tinnitus, and some hearing loss.

To remove the ear wax, oil can be used to soften the cerumen. This may also be done as a preventative measure. Many cases of cerumen impaction may be treated at home, but in cases of auditory canal stenosis, the family may have an otolaryingologist remove the wax. Irrigation of the ear canal may also be effective, but irrigation should never be performed if the tympanic membrane may be perforated as this could lead to acoustic trauma or otitis media. The cholesteatoma may continue to enlarge to the point where it will destroy bone. If untreated, lesions may break through the temporal bone and apply pressure to the brain, which may result in infection that may, in turn, lead to intercranial abscesses. If an individual complains of otorrhea discharge from the ear or hearing loss, an otolaryngologist should realize that cholesteatoma might be present Bacciu et al.

Cholesteatomas may cause irreversible hearing loss but fortunately, most incidences may be cured through surgery. The surgery's outcome depends on the size of the cholesteaoma when it is diagnosed. For children, it is important that lesions in the tympanic membrane are diagnosed by a pediatrician and that the child is then referred to an otolaryngologist. The cholesteatoma will be first noticeable as a round cyst, white in color, that can be seen behind the tympanic membrane, which is still in tact. If the cholesteatoma goes unnoticed, it will grow and the middle ear space will have a large white mass that bulges outward. A cholestatoma may be congenital or acquired.

As they enlarge, the normal variegated appearance of the middle-ear space disappears, replaced by a bulging white mass. In the early stages of the cholesteatoma, it is unusual for the tympanic membrane to be perforated and for drainage to occur. These incidents most often come months or years after the onset of hearing loss which helps emphasize the importance of early detection Issacson A study by Bacciu, Pasanisi, Vincent, et al. This study exemplified some of the methods used to treat cholesteatoma as well as the challenges inherent in the treatment of this otologic pathology for Down syndrome individuals.

They followed nine pediatric patients that were being surgically treated, and two of the patients had cholesteatoma in both ears bilateral , which brought the total of ears being treated to Two of the ears underwent a canal-wall-up mastoidectomy, while eight ears underwent a canal-wall-down mastoidectomy. Mastoidectomy refers to the removal of an infected section of the mastoid bone. One ear underwent a modified Bondy procedure, a modification of the mastoidectomy which entails exteriorizing the mastoid cavity leaving the pars tensa and ossicles intact.

The outcome of this study was that one of the ears that underwent the canal-wall-up mastoidectomy was found to have reamaining cholesteatoma present. Another ear, after the same procedure, developed recurrent cholesteatoma which necessitates a change to a canal-wall-down mastoidectomy. Another patient's neotympanic membrane became perforated and had to be repaired. This study demonstrated that cholesteatoma can be difficult to completely eradicate in a patient with Down syndrome, and an emphasis should always be put on early diagnosis and prevention especially in light of the challenges presented by the orofacial and craniofacial anatomy of children with Down syndrome. One of the reasons this happens is because the Cochlear hair cells may be absent.

If the hair cells are present, they may still be subject to early degeneration. Once they reach their teenage years and after, they have a good chance of cochlear degeneration occurring. Hearing aids are often looked at as a viable option for even mild loses and amplification plays an important role in treating hearing loss in children with Down syndrome because it is probable that even a mild loss will have a strong impact on the development of their language. This is a severe concern, so hearing aids are also often recommended for conductive hearing loses that may last for over a few months.

Hearing aids are also used with Down syndrome adult individuals who are living with early onset dementia because the loss may significantly affect their cognition skills. There are special considerations to take into account when Down syndrome individuals are to receive hearing aids because their ears tend to be smaller. It may also be that hearing aids are not appropriate for a child and a classroom FM system may be implemented instead. For cases of sensorineural hearing loss, recruitment is nearly always concomitant with the loss.

Recruitment refers to the perception that the level of sound drastically increases for specific frequencies and becomes too loud too quickly and causes pain. It follows, then, that recruitment may lead to sound intolerance. This concern will be reflected in the prescription for the amplification devices. Down syndrome is the most commonly occurring chromosomal condition, and research into improving the quality of life for people with Down syndrome is, of course, incredibly important. It may be easy to underestimate the impact that a hearing loss may have on an individual's quality of life, especially in children when even a mild loss can be devastating to their speech and language development, but hearing is a critical skill for communication which is an integral part of a good quality of life.

Thus, the treatment of otologic pathologies and hearing loss in Down syndrome is of the greatest concern to giving individuals with Down syndrome the quality of life they deserve. Works Cited. Bacciu, A. Pasanisi, V. Vincenti, D. Giordano, A. Caruso, L. Lauda, and S. Board, A. Medical Encyclopedia Editorial. National Library of Medicine, 18 Nov. BMJ Evidence Centre, Genetics Home Reference, National Down Syndrome Society, It encodes a cell surface protein that functions as cell adhesion molecule and is expressed during cardiac cushion development. CRELD1 gene contains 11 exons spanning approximately 12 kb [ 36 ].

To the present, two specific genetic loci for AVSD have been identified. One was AVSD 1 locus present on chromosome 1pp21 [ 37 ]. Other locus was present on chromosome 3p25 and the corresponding gene was CRELD1 [ 36 , 38 ]. Maslen et al. in [ 33 ] have identified two heterozygous missense mutation p. RC and p. EK with two subjects in DS and AVSD. They have recruited 39 individual of DS with complete AVSD and have found the same mutations. In the same study, DNA of 30 individual of trisomy without CHD was studied for both mutations, no such mutation was identified [ 35 ]. RC which was originally reported in an individual with sporadic partial AVSD and now it is also detected in individual of DS with AVSD.

Interestingly, with the same mutation p. RC , the severity of heart defect was greater in patients of DS with AVSD. The first report of leukemia in a DS patient occurred in [ 39 ] and the first systematic study in [ 40 ]. Leukemogenesis of acute megakaryoblastic leukemia AMKL in DS patients is associated with the presence of somatic mutations involving GATA 1 gene or also called as GATA-binding factor 1 [ 42 ]. GATA 1 is a chromosome X- linked transcription factor which is essential for erythoid and megakaryocytic differentiation. Because of these GATA 1 mutations, there is a production of shorter GATA 1 protein thereby leading to uncontrolled proliferation of immature megakaryocytes [ 42 , 43 ]. People with DS have been reported to have a reduced incidence of hypertension [ 46 , 47 ].

Trisomy of the Hsa21 microRNA hsa-miR contributes to this [ 48 ]. Further studies are required to validate this hypothesis and determine whether other genes may also protect people with DS against hypertension. Duodenal stenosis DST and imperforate anus IA are and 33 times more likely to occur DS [ 23 , 49 ]. HD is a form of low intestinal obstruction caused by the absence of normal myenteric ganglion cells in a segment of the colon [ 50 ]. In HD children, the absence of ganglion cells results in the failure of the distal intestine to relax normally. Peristaltic waves do not pass through the aganglionic segment and there is no normal defecation, leading to functional obstruction.

Abdominal distention, failure to pass meconium, enterocolitis and bilious vomiting are the predominant signs and symptoms and appear within a few days after birth. Infants with duodenal atresia or DST present with bilious vomiting early in the neonatal period. If left untreated, it will result in severe dehydration and electrolyte imbalance. IA is a birth defects in which the rectum is malformed and it is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association: vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and limb defects.

Alterations of approximately 10 non Hsa21 genes have been linked to this disease [ 51 ]. Several researches have shown that HD contain the DSCAM gene which is expressed in neural crest that give rise to enteric nervous system [ 49 ]. Overlapping critical region was described both for DST and IA [ 51 ]. No other Hsa21 genes have been implicated so far. Prevention of DS depends upon offering prenatal diagnosis to high risk pregnancies via amniocentesis and chorionic villus sampling CVS. Amniocentesis and CVS are quite reliable but offers risk of miscarriage of between 0. Based soft markers like small or no nasal bone, large ventricles and nuchal fold thickness, the risk of DS for fetus can be identified through ultrasound generally at 14 to 24 weeks of gestation [ 53 ].

Increased fetal nuchal translucency indicates an increased risk of DS [ 54 ]. The other methods used for prenatal diagnosis in which traditional cytogenic analysis is still widely used in different countries. However some rapid molecular assays-FISH fluorescent in situ hybridization , QF-PCR quantitative fluorescence PCR , and MLPA multiplex probe ligation assay - also used for prenatal diagnosis. Cytogenetic analysis of metaphase karyotype remains the standard practice to identify not only trisomy 21, but also all other aneuploidies and balanced translocations. Details on diagnostic methods with advantages and disadvantages are mentioned in Table 2.

Over the past 10 years however, several other methods have been developed and used for the rapid detection of trisomy 21, either in fetal life or after birth. The most widely used is FISH of interphase nuclei, using Hsa specific probes or whole-Hsa 21 [ 55 ]. An alternative method that is now widely used in some countries is QF-PCR, in which DNA polymorphic markers microsatellites on Hsa 21 are used to determine the presence of three different alleles [ 56 ]. This method relies on informative markers and the availability of DNA. Rapid diagnosis by PCR-based methods using polymorphic STR markers may reduce these difficulties using conventional approach.

Using STR markers method we can detect trisomy in Using more number of markers can further increase the reliability of the test. Simultaneously parental origin of the nondysjunction can also be detected [ 57 , 58 ]. Additional method to measure copy number of DNA sequences include MLPA [ 59 ] which was first introduced in as a method of relative quantification in DNA. MLPA offers various advantages like — a very short time for diagnosis 2—4 days , effectiveness, simplicity and relatively low costs. It is based on hybridization and PCR method and is divided into four steps: DNA denaturation, hybridization of probe to the complementary target sequence, probe ligation and PCR amplification.

And finally capillary electrophoresis of PCR amplified products is carried out. However MLPA is unable to exclude low level placental and true mosaicism [ 60 ]. A recent method, termed paralogous sequence quantification PSQ , uses paralogous sequences to quantify the Hsa 21 copy number. PSQ is a PCR based method for the detection of targeted chromosome number abnormalities termed paralogous sequence quantification PSQ , based on the use of paralogous genes. Paralogous sequences have a high degree of sequence identity, but accumulate nucleotide substitutions in a locus specific manner. These sequence differences, which are termed as paralogous sequence mismatches PSMs , can be quantified using pyrosequencing technology, to estimate the relative dosage between different chromosomes.

PSQ is a robust, easy to interpret, and easy to set up method for the diagnosis of common aneuploidies, and can be performed in less than 48 h, representing a competitive alternative for widespread use in diagnostic laboratories. The sequencing is quantitatively done by using pyrosequencing [ 61 ]. Finally, comparative genomic hybridization CGH on BAC chips can be used for the diagnosis of full trisomy or monosomy, and for partial segmental aneuploidies [ 62 , 63 ]. Fetal cells in maternal ciruculation: Ever since the discovery of presence of fetal lymphocytes in maternal blood was made in , the investigators are trying to develop genetics-based noninvasive prenatal diagnostics NIPD [ 64 ]. Despite several advantages offered by this approach, the use of fetal cells for NIPD has never reached clinical implementation because of their paucity on the order of a few cells per milliliter of maternal blood and concerns of fetal cell persistence in the maternal circulation between pregnancies.

Cell free fetal DNA from maternal serum: This novel approach was proposed in Several clinical applications based on the analysis of cell-free fetal DNA have been developed like determining fetal Rh D status in Rh D-negative women [ 65 ], sex in sex-linked disorders [ 66 , 67 ], and detection of paternally inherited autosomal recessive and dominant mutations [ 68 ]. However, there remains the outstanding challenge of the use of cell-free fetal DNA for the detection of chromosomal aneuploidy, in particular trisomies 21, 18, and Several approaches have been adopted like the origin of circulating cell-free fetal DNA is primarily the placenta, whereas maternal cell-free DNA is derived from maternal leukocytes [ 69 ].

The approach includes studying differences in genomic DNA methylation between the placenta and paired maternal leukocytes, investigators have characterized placenta-specific epigenetic markers [ 70 ] and also finding of circulating cell-free placenta-derived mRNA allowed the identification of placenta-specific mRNA production [ 71 ]. The concept of digital PCR was also introduced to serve the same purpose. In digital PCR, individual fetal and maternal circulating cell-free DNA fragments are amplified under limiting-dilution conditions and the total number of chromosome 21 amplifications representing maternal plus fetal contributions divided by the number of reference chromosome amplifications should yield a ratio indicating an over- or underrepresentation of chromosome Although the digital PCR approach is conceptually solid, the low percentage of cell-free fetal DNA in the maternal plasma sample requires the performance of thousands of PCRs to generate a ratio with statistical confidence.

This can be overcome by using of multiple target amplifications and enrichment of cell-free fetal DNA which are still under research trail. Next recent method added to the list is next generation sequencing NGS which is based on the principle of clonally amplified DNA templates or, most recently, single DNA molecules are sequenced in a massively parallel fashion within a flow cell [ 72 , 73 ]. This quantification allows NGS to expand the digital PCR concept of counting cell-free DNA molecules. Fan et al. and Chiu et al.

in described noninvasive detection of trisomy 21 by NGS [ 74 ]. Both groups extracted cell-free DNA from maternal plasma samples from both euploid and trisomy pregnancies. DNA from each sample was sequenced on the Illumina Genome Analyzer, and each sequence read was aligned to the reference human genome. Chiu et al. build on their earlier work with the Illumina Genome Analyzer and demonstrate noninvasive NGS-based trisomy 21 detection with the sequencing-by-ligation approach on the Life Technologies SOLiD platform [ 75 ]. Cell-free DNA was extracted from 15 pregnant women, 5 of whom carried trisomy 21 fetuses and it was clonally amplified by emulsion PCR, and sequenced in 1 chamber of an 8-chamber SOLiD slide.

This process yielded a median of 59 × 10 6 base reads per sample. As reported earlier with the Illumina Genome Analyzer, a nonuniform distribution of aligned sequence reads was observed with the SOLiD data. Going forward, one can expect streamlining and automation of technical processes and data analysis, coupled with reduced sequencing costs. Ultimately, reduced sequencing costs and turnaround times could pave the way for NGS-based NIPD to be considered as an alternative to serum biomarker screening, which,while cost-effective remains prone to false positives.

Forty years after the discovery of circulating fetal cells, the vision of NIPD appears clearer and closer. One of the hallmarks of DS is the variability in the way that the condition affects people with DS. With the third 21st chromosome existing in every cell, it is not surprising to find that every system in the body is affected in some way. However, not every child with DS has the same problems or associated conditions. Parents of children with DS should be aware of these possible conditions so they can be diagnosed and treated quickly and appropriately.

The goal of the study is to point out the most common problems of which parents should be aware. Timely surgical treatment of cardiac defects during first 6 months of life may prevent from serious complications. A balance diet and regular exercise are needed to maintain appropriate weight. Feeding problems and failure to thrive usually improve after cardiac surgery. A DS child should have regular check up from various consultants. These include:. Child psychiatrist - A child psychiatrist should lead liaison interventions, family therapies, and psychometric evaluations.

DS or Trisomy 21, being the most common chromosomal abnormality among live born infants, is associated with a number of congenital malformations. Several theories have been put forward to increase our understanding in phenotype and genotype correlation. The primary goal of this review is to unravel the common genes involved in DS associated phenotypes, including APP, BACE2, PICALM, APOE, GATA 1, JAK 2, CRELD 1 and DSCAM. This reviews also provides the detailed description on the application of techniques to prenatal diagnosis in DS. Within a couple of years, MLPA and QF-PCR has been added in the list of rapid aneuploidy testing.

The other methods includes: NGS for cell free fetal DNA screening for maternal plasma. Except ,FISH, MLPA and QF-PCR other method are not commercialized for aneuploidy diagnosis due to their running cost, labor intensive protocol and complex data analysis. Since various clinical conditions are associated with DS, hence the management of these patients requires an organized multidisciplinary approach and continuous monitoring of these patients which has been discussed in this review article. The prevalence of Down syndrome in County Galway.

Ir Med. Google Scholar. Carothers AD, Hecht CA, Hook EB. International variation in reported live birth prevalence rates of Down syndrome, adjusted for maternal age. J Med Genet. Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. Birth Defects Res A Clin Mol Teratol. Murthy SK, Malhotra AK, Mani S, Shara ME, Al Rowaished EE, Naveed S, et al. Incidence of Down syndrome in Dubai. Med Princ Pract. Article PubMed Google Scholar. Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome in Qatar. Clin Genet. Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO et al. The 50th anniversary of the discovery of trisomy the past, present, and future of research and treatment of Down syndrome. Genet Med. Gardiner KJ.

Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol Sci. Article CAS PubMed Central PubMed Google Scholar. Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M et al. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet. Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn. Article CAS PubMed Google Scholar. Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH, et al. Lyle R, Bena F, Gagos S, Gehrig C, Lopez G, Schinzel A, et al.

Genotype—phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome Eur J Hum Genet. Ermak G, Harris CD, Battocchio D, Davies KJ. RCAN1 DSCR1 or Adapt78 stimulates expression of GSK-3beta. FEBS J. Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet. Sinet PM, Theopile D, Rahmani Z, Chettouch Z, Blovin JL, Prier M, et al. Mapping of Down syndrome phenotype on chromosome 21 at the molecular level.

Biomed Pharmacother. Epstein CJ, Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill; Pritchard MA, Kola I. False- positive screening results take place and because the sequences derived from NIPS are derived from the placenta, like in chorionic villus sampling CVS , they may not reflect the true fetal karyotype. Therefore, currently invasive testing is recommended for confirmation of a positive screening test and should remain an option for patients seeking a definitive diagnosis 35 , 45 , NIPS for fetal aneuploidy was presented into clinical practice in November Obstetricians have rapidly accepted this testing, and patients have welcomed this option due to its lack of fetal morbidity and mortality At first, NIPS began as a screen for only trisomy 21 T21 and was rapidly developed to include other common aneuploidies for chromosomes 13 T13 , 18 T18 , X, and Y Notwithstanding improvement in sensitivity, approaches using cfDNA are not diagnostic tests as false positive and false negative results are still generated, although at very low rates than the previous maternal screening tests.

A significant source of a discrepant result comes from the fact that the fetal fraction of cfDNA originates pre-dominantly from apoptosis of the trophoblast layer of the chorionic villi and not the fetus. Thus, inva-sive diagnostic testing such as CVS or amnio-centesis, is recommended after a positive cfDNA fetal aneuploidy screening test. Because cfDNA testing is normally presented in the first trimester, CVS is often the choice invasive method applied. If mosaicism is recognized on CVS, confirmatory amniocentesis is recommended 54 - Although NIPS is not a diagnostic test, it offers a considerably developed screen for fetal aneuploidy compared to the earlier screening tests that depend on maternal serum markers Table3.

Patients with positive screen results should take suitable genetic counseling to persuade that follow-up testing is necessary before making a decision as to whether or not to continue a pregnancy because of concern over a positive NIPS result. However, patients with negative test results need to know that there is still a chance that their fetus may have a chromosome abnormality due to a false negative result Detection rates and false positive rates of major aneuploidies using NIPT 51 , 57 , Amniocentesis is the most conventional invasive prenatal diagnostic method accepted in the world.

Amniocenteses are mostly performed to acquire amniotic fluid for karyotyping from 15 weeks onwards. Amniocentesis performed before 15 weeks of pregnancy is referred to as early amniocentesis. Amniocentesis and CVS are quite reliable but increase the risk of miscarriage up to 0. There is no medical cure for DS. However, children with DS would benefit from early medical support and developmental interventions initiation during childhood. Children with DS may benefit from speech therapy, physical therapy and work-related therapy. They may receive special education and assistance in school. Life expectancy for people with DS has improved noticeably in recent decades Nowadays, cardiac surgery, vaccinations, antibiotics, thyroid hormones, leukemia therapies, and anticonvulsive drugs e.

g, vigabatrin have significantly improved the quality of life of individuals with DS. Actually, life expectancy that was hardly 30 years in the s is now increasing more than 60 years of age 3 , 62 - X inactivation is the mammalian dosage compensation mechanism that ensures that all cells in males and females have one active X chromoso-me Xa for a diploid set of autosomes. This is achieved by silencing one of the two X chromoso-mes in female cells. The X chromosome silencing is effected by Xist non-coding RNA and is associated with chromatin modification Recently, resear-chers have applied this model of transcriptional silencing to the problem of additional gene expre-ssion in DS. In induced pluripotent stem iPS cells derived from a patient with DS, the researchers used zinc-finger nucleases to insert inducible X inactive specific transcript non—protein-encoding XIST into chromosome The mechanism of transcriptional silencing due to the Xist transgene appears to involve covering chromosome 21 with Xist RNA that results in stable modification of heterochromatin.

In the iPS cells, induction of the newly inserted transgene resulted in expression of XIST noncoding RNA that coated chromosome 21 and triggered chromosome inactivation 65 - In summary, DS is a birth defect with huge medical and social costs and at this time there is no medical cure for DS. So, it is necessary to screen all pregnant women for DS. NIPS for fetal aneuploidy which was presented into clinical practice since November has not been yet considered as diagnostic test as false positive and false negative test results are still generated. Thus, invasive diagnostic testing such as CVS or amniocentesis, is recommended after a positive cfDNA fetal aneuploidy screening test.

Despite the test is obtaining common acceptability, the high cost restricts its application to all patients, identified as such by another traditional first-line method of screening. In the screening with cffDNA testing, the nuchal scan is considered to be the most appropriate first-line method of screening. Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation. Int J Mol Cell Med. PMCID: PMC Mohammad Kazemi 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Find articles by Mohammad Kazemi.

Mansoor Salehi 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Find articles by Mansoor Salehi. Majid Kheirollahi 1 Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Find articles by Majid Kheirollahi. Author information Article notes Copyright and License information Disclaimer. Received May 10; Accepted Jul 2. Copyright notice. Abstract Down syndrome DS is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome Key Words: Down syndrome, trisomy 21, prenatal diagnosis, chromosome abnormality, cell-free fetal DNA cffDNA ; noninvasive prenatal screening NIPS. Historical background Approximately years ago, Bernal and Briceno thought that certain sculptures represented individuals with trisomy 21, making these potteries the first empirical indication for the existence of the disease Figure 1.

Open in a separate window. Fig 1. Table 1 Candidate dosage sensitive genes on chromosome 21causing DS phenotype 11 , 23 , Gene Symbol Full Name Location APP amyloid beta A4 precursor protein 21q Screening methods Screening for DS is an important part of routine prenatal care. Table 2 Detection rates and false positive rates of different Down syndrome screening tests 43 , Table 3 Detection rates and false positive rates of major aneuploidies using NIPT 51 , 57 , Diagnostic methods Amniocentesis is the most conventional invasive prenatal diagnostic method accepted in the world.

Treatment There is no medical cure for DS. Conclusion In summary, DS is a birth defect with huge medical and social costs and at this time there is no medical cure for DS. Conflict of interest The authors declared no conflict of interest. References 1. Antonarakis SE, Lyle R, Dermitzakis ET, et al. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev. Lyle R, Bena F, Gagos S, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome Eur J Hum Genet.

Murthy SK, Malhotra AK, Mani S, et al. Incidence of Down syndrome in Dubai, UAE. Med Princ Pract. Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome in Qatar. Clin Genet. Asim A, Kumar A, Muthuswamy S, et al. J Biomed Sci. Jiang J, Jing Y, Cost GJ, et al. Translating dosage compensation to trisomy Wiseman FK, Al-Janabi T, Hardy J, et al. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nat Rev Neurosci. Malt EA, Dahl RC, Haugsand TM, et al. Health and disease in adults with Down syndrome. Tidsskr Nor Laegeforen. Gardiner KJ. Molecular basis of pharmacotherapies for cognition in Down syndrome.

Trends Pharmacol Sci. Hattori M, Fujiyama A, Taylor TD, et al. The DNA sequence of human chromosome Megarbane A, Ravel A, Mircher C, et al. The 50th anniversary of the discovery of trisomy the past, present, and future of research and treatment of Down syndrome. Genet Med. Bernal JE, Briceno I. Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador. Levitas AS, Reid CS. An angel with Down syndrome in a sixteenth century Flemish Nativity painting. Am J Med Genet A. Rivollat M, Castex D, Hauret L, et al. Ancient Down syndrome: An osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5—6th century AD. International Journal of Paleopathology. Starbuck JM.

On the antiquity of trisomy moving towards a quantitative diagnosis of Down syndrome in historic material culture. Journal of Contemporary Anthropology.

Down syndrome is a chromosomal disorder resulting from the existence of an extra copy chromosome The condition got its name from John Land Down; the doctor who first described it. Down syndrome is associated with symptoms that impair cognitive ability, physical development and often alter facial appearance. Down syndrome patients are also prone to various health complications including heart disease, hearing problems, dementia, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea and complications with their intestines, eyes, skeleton, and thyroid. Research has shown that the odds of having a baby with Down syndrome grow as the woman ages.

People with Down syndrome have largely varying levels of mental developmental disability. A few of these individuals have notable to extreme mental disability while others show little or no mental problem symptoms. Downs syndrome occurrence is estimated at about 1 in births. A number of factors affect this statistic but the most profound influencing factor has been found to be the age of the mother. It is not unusual for people with the proper set of chromosomes to share some physical features associated with Down syndrome. Some of these shared features may include an unusually small chin, an unusually round face, a large protruding tongue, Simian crease across palms, uneven toe spacing and poorly toned muscles Kumin, The health and overall development of children with Down syndrome can be greatly improved by early intervention, regular screening for any complications, vocational training, and the existence of a caring and supportive social environment.

The physical implications of Down syndrome caused by the chromosomal disorders can however not be overcome. Ironically, Down syndrome has some positive health implications; Down syndrome patients have been observed to have greatly reduced incidences of cancer. Mental development in children with Down syndrome varies greatly and at birth, it is not possible to predict the extent to which the child will be affected in terms of physical symptoms and cognitive development. Intervention methods for these children are normally unique depending on the individual and are developed soon after birth to ensure that the child gets the best chance at leading a normal life Dykens, Speech delay is common among individuals with Down syndrome and the individuals need to be taken through speech therapy to help them develop speech.

Walking in children could also be impaired by Down syndrome. Some children will not walk up to age 4, while others are able to walk at age 2. Language learning can be enhanced by screening for ear problems and hearing loss, employing hearing aids as necessary and fostering timely communication intervention. The use of augmentative and alternative communication methods is common to aid in communication. Some of these methods include body language, pointing, signs, objects, and specially designed graphics. Down syndrome does not have a cure or standard management program due to the diversity in its manifestation. Some individuals may need intensive surgery and therapy while others have minimal health complications and can lead normal lives without the need for any therapy.

Parents of children with Down syndrome have come together to try and find alternative therapies to improve mental growth and physical appearance. Suggested methods are plastic surgery and nutritional supplements Roizen, Ethically, there have been concerns about the number of abortions associated with Down syndrome. Strides have been made to ensure that individuals with Down syndrome are accepted more in society to facilitate their leading normal lives. Parents, teachers and other stakeholders have in recent years advocated the inclusion of these individuals in society rather than exclude them in isolated institutions as was the case before.

Dykens, Elisabeth M. Kumin, Libby. Roizen, Nancy J. Need a custom Research Paper sample written from scratch by professional specifically for you? Mental Development in Children With Down Syndrome. Learn More. We will write a custom Research Paper on Mental Development in Children With Down Syndrome specifically for you! This research paper on Mental Development in Children With Down Syndrome was written and submitted by your fellow student. You are free to use it for research and reference purposes in order to write your own paper; however, you must cite it accordingly. Removal Request. If you are the copyright owner of this paper and no longer wish to have your work published on IvyPanda.

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It is notable that the family members know the condition of the child so that they can offer the right support and advice to parents. The physical implications of Down syndrome caused by the chromosomal disorders can however not be overcome. Consequently, children with Down Syndrome who are diagnosed with a hearing impairment are in danger of having learning impairments subsequent to their hearing loss. These included speech impairment; language learning irregularities; heart valve disorders; gastrointestinal disturbances and infertility Patterson, Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. International Journal of Paleopathology. Historical background Approximately years ago, Bernal and Briceno thought that certain sculptures represented individuals with trisomy 21, making these potteries the first empirical indication for the existence of the disease Figure 1.

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