Review on Down Syndrome in Newly Born Babies
Pravallika S*
Srinivasa Pharmaceutical Institute and Center for Research, Telangana, India.
- *Corresponding Author:
- Pravallika S
M. Pharm
Srinivasa
Pharmaceutical Institute and Center for
Research
JNTUH, Telangana, India
Tel:
9505727310
E-mail: spravalika41@gmail.com
Received Date: 15/07/2016; Accepted Date: 22/07/2016; Published Date: 29/07/2016
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Abstract
ABSTRACT
Down syndrome is a chromosomal anomaly that occurs in about 1 out every 700 births. The risk of having a baby with the condition is greater in women who are older than 35. But the majority of babies with Down syndrome are born to mothers younger than 35 simply because younger women are more likely to have babies than older women. In Down syndrome, an inexplicable error in cell development results in 47 chromosomes (rather than the usual 46) and the extra gene material slightly changes the orderly development of the body and brain.
Keywords
Down syndrome, Chromosome,
Thyroid, Surgery.
Introduction
In General each cell in the human body there is a nucleus, where hereditary material is put away in qualities. Qualities
convey the codes in charge of the greater part of our acquired characteristics and are assembled along bar like structures called
chromosomes. Commonly, the nucleus of every cell contains 23 sets of chromosomes, half of which are acquired from each
parent. Down syndrome happens when an individual has a full or halfway additional duplicate of chromosome 21 [1-5].
Down syndrome (DS or DNS), otherwise called trisomy 21, is a hereditary issue brought on by the nearness of all, or part of a
third duplicate of chromosome 21. It is normally connected with physical development delays, trademark facial components, and
mellow to direct intelligent inability. The normal IQ of a youthful grown-up with Down syndrome is 50, proportional to the mental
age of an 8-or 9-year-old kid, yet this can shift broadly [6-11].
This extra hereditary material changes the course of improvement and causes the attributes connected with Down syndrome.
A couple of the normal physical attributes of Down syndrome are low muscle tone, little stature, an upward inclination to the eyes,
and a solitary profound wrinkle over the focal point of the palm - albeit every individual with Down syndrome is an extraordinary
individual and may have these qualities to various degrees, or not in any manner [12-20].
English doctor John Langdon Down initially portrayed Down syndrome as a different type of mental disability in 1862 and
in an all the more broadly distributed report in 1866. In the twentieth century, numerous people with Down syndrome were
standardized; few of the related restorative issues were dealt with, and most passed on in early stages or early grown-up life. With
the disclosure of karyotype strategies in the 1950s, it got to be easy to recognize irregularities of chromosomal number or shape.
In 1959, Jerome Lejeune reported the disclosure that Down syndrome came about because of an additional chromosome [21-28].
Types of Down Syndrome
In general there are 3 types of Down syndrome they are trisomy 21 (nondisjunction), translocation and mosaicism.
Trisomy 21 (Nondisjunction)
Down syndrome is normally brought about by an error in cell division called "nondisjunction." Nondisjunction results in
a fetus with three duplicates of chromosome 21 rather than the standard two [29]. Before or at origination, a couple of 21st
chromosomes in either the sperm or the egg fail to separate. As the fetus builds up, the additional chromosome is replicated in
each cell of the body. This sort of Down syndrome, which represents 95% of cases, is called trisomy 21.
Mosaicism
Mosaicism (or mosaic Down syndrome) is analyzed when there is a blend of two sorts of cells, some containing the standard
46 chromosomes and some containing 47 [30]. Those cells with 47 chromosomes contain an additional chromosome 21.
Mosaicism is the rarest type of Down syndrome and records for just around 1% of all instances of Down syndrome. Research
has shown that people with mosaic Down syndrome may have less qualities of Down syndrome than those with different sorts
of Down syndrome. In any case, expansive speculations are unrealistic because of the extensive variety of capacities individuals
with Down syndrome process [31-38].
Translocation
In translocation, which represents around 4% of instances of Down syndrome, the aggregate number of chromosomes in the
cells remains 46; in any case, an extra full or fractional duplicate of chromosome 21 combines to another chromosome, generally
to chromosome 14. The nearness of the additional full or fractional chromosome 21 causes the qualities of Down syndrome [38-47].
The most common features associated with Down syndrome
A few kids display just a couple of attributes; others show numerous. Since some of these components are additionally
found in individuals without Down syndrome, Genetic testing must be done to affirm the conclusion [48-53].
The most widely recognized Features connected with Down syndrome include:
• Low muscle tone (babies seem "floppy")
• Upward inclination to the eyes
• Small skin folds on the inward corner of the eyes
• Small, anomalous molded ears
• Single profound wrinkle over the focal point of the palm
• Hyper flexibility (over the top capacity to expand joints)
• Fifth finger has stand out flexion wrinkle rather than two
• Extra space between the enormous toe and the second toe
• Enlarged tongue that tends to stand out
• Flat facial elements, with a little nose
Other health problems associated with Down syndrome
About 50% of children with Down syndrome are likewise conceived with heart deformities. Some of these heart deformities
are major, and the may encounter heart failure soon after birth. Be that as it may, not all heart deformities appear immediately
[54,55]. Therefore, all babies with Down syndrome ought to have an echocardiogram inside the initial couple of months of life to
check for heart issues. The minor deformities might be cured with medications while the major ones may require surgery [56].
Individuals with Down syndrome likewise have more hormonal issues than the general public. Around 10% of infants
conceived with Down syndrome and 50% of adults with Down syndrome have thyroid sickness [57-66]. The most widely recognized
thyroid condition is hypothyroidism, moderating of the thyroid organ. Hypothyroidism can be treated with medication.
More than a large portion of the kids born with Down syndrome likewise have visual issues, for example, crossed eyes,
partial blindness, farsightedness or cataracts. Much of the time, these issues can be treated with glasses or surgery [67-71].
People with Down syndrome have a 15-20 times more serious danger of leukemia (despite the fact that it is still uncommon),
which by and large starts in the initial three years and has a high cure rate. A temporary type of leukemia is found in the infant
time frame that resolves within a few months of life [72-79].
Roughly 10%-12% of infants conceived with Down syndrome likewise have variations from the norm in the gastrointestinal
tract that requires surgery for adjustment.
Diagnosis
Diagnosis of Down syndrome in new conceived infants is performed regularly taking into account the child's appearance. Be that as it may, the elements connected with Down syndrome can be found in children without Down syndrome, so your medicinal
services supplier will probably arrange a test called a chromosomal karyotype. Utilizing an example of blood, this test dissects
your kid's chromosomes. On the off chance that there's an additional chromosome 21 present in all or a few cells, the analysis is
Down syndrome [80-88].
Kids with Down syndrome are regularly distinguished during childbirth as an aftereffect of the physical qualities connected
with the syndrome [89,90].
A few kids show just a couple of qualities; others display numerous. Since some of these elements are likewise found in
individuals without Down syndrome, hereditary testing must be done to affirm the determination.
Treatment
Treatment for Down syndrome concentrates on ensuring that child has regular medical checkups, helping your kid create,
looking for early indications of health issues, and finding support. With treatment and you can help your youngster carry on with
a healthy and happy life [91-98].
The child may have health issues identified with Down syndrome, for example, ear contaminations, dental issues, or behavior
issues. He or she may require: Medicines, such as, antibiotics for ear diseases and thyroid hormones for an underactive thyroid
organ (hypothyroidism). Surgery to right issues, for example, heart impairment, bowel problems, or spinal issues [99].
Diverse sorts of treatment, for example, speech therapy, nutritional advice from a registered dietitian, or counseling for
behavior problems are available. Enroll your young child (infant through age 3) in an early-medication program. These programs
have staffs that are trained to monitor and encourage your child's development [100].
Make the child to learn, mingle, and be physically active. For instance, engage the kid in classes with other kids of the same
age. Consider ways you can make the child reasoning abilities without making assignments excessively troublesome. In any case,
realize that it is alright for your kid to be tested.
References
- Willems PJ, et al. High positive predictive value (PPV) of cell-free DNA (cfDNA) testing in a clinical study of 10,000 consecutive pregnancies. J MolBiomarkDiagn. 2016;7:285.
- Zyiad KH, Et al. Recurrent hydatiform mole: A rare case report. Fam Med MedSci Res.2016;5:201.
- Velmishi V, et al. Fenestrated duodenal membrane in a girl with Down syndrome and celiac disease. PediatTherapeut. 2016;6:284.
- Jaiswal SK, et al. Association of genetic polymorphisms in genes involved at the branch point of nucleotide biosynthesis and remethylation with Down syndrome birth risk: A Case-Control Study. J Mol Genet Med.2016;10:207.
- Potter H. Beyond Trisomy 21: Phenotypic variability in people with Down syndrome explained by further chromosome mis-segregation and mosaic aneuploidy. J Down SyndrChrAbnorm.2016;2:109.
- Horvat M, et al. Information processing and motor control in Down syndrome. J Down SyndrChrAbnorm.2016;2:107.
- Davis TN, et al. Cross modal generalization of receptive and expressive vocabulary in children with Down syndrome. J Down SyndrChrAbnorm.2016;2:105.
- Masgutova S, et al. Reflex profile of children with Down syndrome improvement of neurosensorimotor development using the mnri® reflex integration program. Int J Neurorehabilitation.2016;3:197.
- Jaiswal SK, et al. Two familial cases of Robertsoniantransloacations 13; 14 and its clinical consequences. J Genet Syndr Gene Ther.2016;7:283.
- Belmokhtar F, et al. Cytogenetic study of Down syndrome in Algeria: Report and review. J Genet Syndr Gene Ther.2016;7:280.
- Vicari S, et al. Detecting psychiatric profile in genetic syndromes: A comparison of Down syndrome and William’ssyndrome. J Genet Syndr Gene Ther.2016;7:279.
- Herzig LD, et al. Pediatrician use of Down syndromehealth supervision guidelines. ClinPediatr.2016;1:102.
- Mueller BB. The treatment of Down syndrome, trisomy 21 with acupuncture. J Tradi Med ClinNatur.2016;5:183.
- Cannalire G, The importance of knowing growth and pubertal development in Down syndrome. J Clin Case Rep.2015;5:640.
- Ghosh S and Ghosh P. Genetic etiology of chromosome 21 nondisjunction and Down syndrome birth: Aberrant recombination and beyond. J Down SyndrChrAbnorm.2015;1:102.
- Asim A, et al. Folatemetabolism and genetic variant in Down syndrome: A Meta-Analysis. J Genet Syndr Gene Ther.2015;6:270.
- Larsen SO, et al. The concepts of fractal ellipses and iso likelihood ratio curves in two-dimensional screening procedures with applications in screening for Down syndrome. J BiomBiostat.2015;6:255.
- Hudak R. The treatment of obsessive compulsive disorder in a patient with Down syndrome. J Depress Anxiety.2015;4:195.
- Ding B. How does a 1.5-fold increase in gene dosage in chromosome 21 cause the pleiotropic phenotypes in Down syndrome? J Down SyndrChrAbnorm.2015;1:e101.
- Bricout VA. Adapted physical activities and Down syndrome. J Down SyndrChrAbnorm.2015;1:e102.
- Ribeiro MG, et al. Immunological profile of patients presenting Down syndrome and alopecia areata. Adv Tech Biol Med.2015;3:123.
- Demirhan O, et al.Cytogenetic profiles of 1213 children with Down syndrome in south region of turkey. J Mol Genet Med.2015;9:157.
- Miyauchi J. Spontaneous remission of transient leukemia in down syndrome: Extrinsic or intrinsic mechanism? J Leuk (Los Angel).2014;2:149.
- Bhaumik P, et al. A Rare intronic variation of presenilin-1 (rs201992645) is associated with Alzheimer’s disease and Down syndrome birth. Hereditary Genet.2014;3:136.
- Layton T, et al. Play behaviors in Chinese toddlers with Down syndrome. J PsycholAbnorm Child.2014;3:131.
- Cetinkaya S, et al. Premature menarche associated with hashimoto thyroiditis at 2 years 9 months: Case report. Thyroid Disorders Ther.2014;3:159.
- Anna BP, et al. Down syndrome phenotype in a child with partial trisomy of chromosome 21 and paternally derived translocation t (20p; 21q). Gen Med (Los Angel).2014;2:149.
- Melam GR, et al. Reaction and movement time in Down syndrome children under different visual feedback conditions. J Nov Physiother.2014;4:222.
- Takashima M, et al. Neuronal plasticity in the developing and aging cerebral cortices of patients with Down syndrome. Int J Neurorehabilitation.2014;1:111.
- Zafrilla P, et al. Oxidative stress in Down syndrome. J Genet Syndr Gene Ther.2014;5:232.
- Dias T, et al. Knowledge of Down’s syndrome screening amongst patients and health care professionals in Sri Lanka. GynecolObstet (Sunnyvale).2014;4:234.
- Divyakolu S, et al. Evaluation of c677t polymorphism of the methylenetetrahydrofolatereductase (mthfr) gene in various neurological disorders. J NeurolDisord.2014;2:142.
- Fernandez F andEdgin JO. Poor sleep as a precursor to cognitive decline in Down syndrome: A hypothesis. J Alzheimers Dis Parkinsonism.2014;3:124.
- Grandy JK. Melatonin: Therapeutic intervention in mild cognitive impairment and Alzheimer disease. J NeurolNeurophysiol.2014;4:148.
- DeCourt B, et al. Recent perspectives on app, secretases, endosomal pathways and how they influence Alzheimer’s related pathological changes in Down syndrome. J Alzheimers Dis Parkinsonism.2013;S7:002.
- Makino S. Acute corneal hydrops in Down syndrome. J Clin Case Rep.2012;2:235.
- Tomai XH, et al. Evaluation of trisomy 21 screening by fetal nuchal translucency thickness, maternal age and biochemical serum in the south of Vietnam. Gynecol Obstet. 2012;2:122.
- Kokotas H. Human nondisjunction and mouse models in Down syndrome. J Genet Syndr Gene Ther.2012;3:e108.
- Granholm AC, et al. Alzheimer’s disease and Down syndrome: Developing a national tissue repository. J Alzheimers Dis.2012;2:e108.
- Banjar HH. Pulmonary hypertension (PHT) in patients with Down syndrome: the experience in a tertiary care center in Saudi Arabia. J PulmonarRespirat Med.2012;2:115.
- Vijaya Krishna V. Prenatal screening for Down syndrome. Gynecol Obstetric.2011;1:e101.
- West mark CJ, et al.Effect of anticoagulants on amyloid®-protein precursor and amyloid beta levels in plasma. J Alzheimers Dis.2011;1:101.
- Mowafi HA. Management of post-intubation croup in a Down syndrome infant with dexamethasone and low dose nebulized epinephrine-a case report. J Anesthe Clinic Res.2011;1:111.
- Elias WF. Assessment of the osteogenic potential of morphogenetic protein-2 and insulin-like growth factor-i on adipose tissue- derived stem cells. J Biomedical Sci. 2016;5:1.
- Batinga H. Cannabinoid receptor ligands prevent dopaminergic neurons death induced by neurotoxic, inflammatory and oxidative stimuli in vitro. J Biomed Sci. 2016;5:1.
- Sadaqa WA. Tranexamicacid use and post-operative outcome in patients undergoing spine surgery for scoliosis in an-najah national university hospital/palestine: A prospective, randomized, double blinded study. J Biomed Sci. 2016;5:1.
- Okon I. The paradox of anti-cancer agents and recurring emergence of drug resistance. J Biomed Sci. 2016;5:1.
- Kadavakollu S. Translational fidelity mediated regulation of er-stress by dph3. J Biomed Sci. 2016; 5:1.
- Hsiao CY, et al. Transplantation of Wharton’s jelly mesenchymal cells to improve cardiac function in myocardial infarction rats. J Biomedical Sci. 2016;5:1.
- Yen CY, et al. Areca nut contains both apoptosis- and autophagy-inducing ingredients and its possible effects on cancer cells. J Biomedical Sci. 2016;5:1.
- Oliveira MVde, et al. Animal models of chronic obstructive pulmonary disease exacerbations: A review of the current status. J Biomedical Sci. 2016;5:1.
- Heidari A. Biomedical study of cancer cells DNA therapy using laser irradiations at presence of intelligent nanoparticles. J Biomedical Sci. 2016;5:2.
- Liu K, et al. Peptide P3 selected from phage display screen shows antiviral activity against porcine reproductive and respiratory syndrome virus. J Biomedical Sci. 2016;5:2.
- Li Y, et al. The developmental changes and correlation of adiponectin, adiponectin receptors and hormones of the hypothalamic-pituitary- ovarian axis in growing wannan spotted gilts. J Biomedical Sci. 2016;5:2.
- Bian C, et al. Electrochemical determination of phosphate in freshwater free of silicate interference. J Biomedical Sci.2016;5:2.
- Hamidpour R, et al. Antipurinergictherapy with suramin as a treatment for autism spectrum disorder. J Biomedical Sci. 2016;5:2.
- Bitew A, et al. Utilization of obstetric analgesia in labor pain management and associated factors among obstetric care givers in Amhara Regional State Referral Hospitals, Northwest Ethiopia. A Hospital based cross sectional study. J Biomedical Sci. 2016;5:2.
- Qi Y, et al. Preparation of magnetic molecularly imprinted polymer for melamine and its application in milk sample analysis by HPLC. J Biomedical Sci. 2016;5:2.
- Anticoli S, et al. Treatment of cerebral venous thrombosis with rivaroxaban. J Biomedical Sci. 2016;5:3.
- homick PC, et al. Molecular interaction studies of chitosan cross-linked compounds as drug delivery substrate for anticancer agents. J Biomedical Sci. 2016, 5:3.
- Yasseen ZJ andGhossain ME. Studies on binding of widely used drugs with human serum albumin at different temperatures and PHs. J Biomedical Sci. 2016;5:3.
- Sadaqa WA, et al. intra-operative use of bispectral index monitoring and time to extubation and patients length of stay after cardio pulmonary bypass surgery, at an-najah national university hospital/nablus/palestine. A randomized control study. J Biomedical Sci. 2016;5:3.
- Milovanovic M, et al. High in vivo platelet activity in female fibromyalgia patients. J Biomedical Sci. 2016;5:3.
- Togashi AY, et al. marginal bone loss around morse taper connection implants in Osseo integration period. J Biomedical Sci. 2016;5:3.
- Aaron JE. Cellular ubiquity of calcified microspheres: a matter of degree, ancient history and the Golgi body. J Biomedical Sci. 2016;5:3.
- Zhang ZH, et al. A mathematical method for calculating the anterior and superior axial coverage angle of acetabulum to femoral head based on 3D coordinate system. J Biomedical Sci. 2016;5:3.
- Kaut O, et al. DNA methylation of imprinted loci on autosomal chromosomes and igf2 are not affected in Parkinson’s disease patients peripheral blood monocytes. Brain DisordTher.2016;5:211.
- Potter H. Beyond trisomy 21: Phenotypic variability in people with down syndrome explained by further chromosome mis-segregation and mosaic aneuploidy. J Down SyndrChrAbnorm.2016;2:109.
- Yusuf M, et al. Future prospects of 3d human chromosome imaging by serial block face scanning electron microscopy. Single Cell Biol.2016;5:134.
- Alesi V, et al. Easychip 8x15k: A new tool for detecting chromosome anomalies in low risk pregnancies, supporting and integrating standard karyotype. J Genet Syndr Gene Ther.2016;7:277.
- Ghosh S andGhosh P. Genetic etiology of chromosome 21 nondisjunction and Down syndrome birth: aberrant recombination and beyond. J Down SyndrChrAbnorm.2016;1:102.
- Lemke KH, et al. High performance DNA probes for perinatal detection of numerical chromosome aberrations. Adv Tech Biol Med.2016;3:155.
- Yang D, et al Fine mapping of a retarded-palea2 (rep2) gene on chromosome 9 in rice. J Plant Biochem Physiol.2015;3:149.
- Horvath B, et al. Influence of imprinting of an x chromosome and the methylene tetrahydrofolatereductase (mthfr) 677c>t polymorphism on fviii activity. J HematolThrombo Dis.2015;3:218.
- HmadF, et al. Chromosomes of two species of acanthocephalans collected from the fishes of Kashmir valley, India. J VeterinarSci Technol.2015;6:253.
- Fuchs M.Chromosome alignment at metaphase plate. Single Cell Biol.2015;4:i108.
- Lauricella SA, et al. Non-mosaic tetrasomyyp by complex isodicentric rearrangement of the y chromosome: prenatal diagnosis with cordocentesis in a fetus with abnormal obstetric ultrasound. GynecolObstet (Sunnyvale). 2015;5:298.
- omina E, et al. The modifying effect of co-mutagens on the frequency and spectrum of radiation-induced chromosome aberrations in human cells. Pharm Anal Acta.2015;6:377.
- Lucotte G. The major Y-chromosome haplotype XI – haplogroupR1a in Eurasia. Hereditary Genet.2015;4:150.
- Wilson JL, et al. Reunification by Y-chromosome lineage analysis of an AshkenaziJewish family with a rare surname who were spatially and temporally separated. J Forensic Res.2015;6:283.
- Padmalatha OV, et al.Fetal loss: A genetic insight of the de novo accessory bi-satellite marker of chromosome 22P. J Genet Syndr Gene Ther.2015;6:259.
- Del Rey G, et.al. Association of distal deletion of the short arm of chromosome 9 with 46,XYdisorder of sex development and gonadoblastoma. Biolsyst Open Access.2015;4:129.
- Al-Shammary HA, et al. Eggplantpeel ethanolic extract: A novel and alternative stain for chromosome banding. J Bioprocess Biotech.2015;5:201.
- Scott EC, et al. Chromosome 1 abnormalities predict shortened progression free and overall survival in patients with high risk multiple myeloma undergoing autologous hematopoietic cell transplantation, a retrospective analysis. J Blood Lymph.2015;5:131.
- Anna BP, et al. Down syndrome phenotype in a child with partial trisomy of chromosome 21 and paternally derived translocation t (20p; 21q). Gen Med (Los Angel).2015;2:149.
- Hartwig FP. Considerations to calculate expected genotypic frequencies and formal statistical testing of Hardy-Weinberg assumptions for non-pseudo autosomalX chromosome SNPs. J Genet Syndr Gene Ther.2014;4:231.
- Klar AJS. Selective chromatid segregation mechanism explains the etiology of chromosome 11 translocation-associated psychotic disorders: A Review. J NeurolDisord.2014;2:173.
- Michiels JJ. Aspirin resistant autosomal dominant familial erythermalgia: A congenital incurable neuropathic disorder caused by a gain of function mutation in exon 26 of the SCN9a gene on chromosome 2q24.3. J HematolThrombo Dis.2014;2:e113.
- Shaikh MU, et al. Response to imatinibmesylate in patients with early chronic phase chronic myeloid leukemia and derivative chromosome 9 deletion or clonal evolution. J ClinExpPathol.2014;4:166.
- Vidovic A, et al. 5q- Syndrome in transformation to the Philadelphia chromosome positive acute myeloblastic leukemia. Carcinog Mutagen.2014;2:164.
- Uno N, et al. Toward gene and cell therapies employing human artificial chromosomes in conjunction with stem cells. ClonTransgen.2013;3:122.
- Militti L, et al. A Mosaic Ring Chromosome 21 in a patient with mild intellectual disability not evidenced by array-Cgh. J Genet Syndr Gene Ther.2013;4:207.
- Fernandes S, et al. Y-chromosome detection in turner syndrome. Human Genet Embryol.2013;3:115.
- Li FF, et al. Identification of a location at chromosome 19p in a big Chinese family with charcot-marie-tooth disease. J MolBiomarkDiagn.2013;4:144.
- Næss KB, et al. The profile of social functioning in children with Down syndrome. DisabilRehabil.2016;1:1-12
- Ghilain V, et al. Unusual association between lysinuric protein intolerance and moyamoyavasculopathy. Eur J Paediatr Neurol. 2016;1090:30073-30083.
- Saben JL, et al. Maternal metabolic syndrome programs mitochondrial dysfunction via germ line changes across three generations. Cell Rep. 2016;16:1-8.
- Ainsworth MK, et al. Teaching phonics to groups of middle school students with autism, intellectual disabilities and complex communication needs. Res DevDisabil. 2016;56:165-176.
- Du L, et al. Porcine reproductive and respiratory syndrome virus (PRRSV) up-regulates IL-15 through PKCβ1-TAK1-NF-κB signaling pathway. Virology. 2016;496:166-174.
- Zhang J and Zhang B Second-generation non-invasive high-throughput DNA sequencing technology in the screening of Down’s syndrome in advanced maternal age women. Biomed Rep. 2016;4:715-8.