Down Syndrome PDF
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Ayaan Imtiyaz, Fathimathul Femina, Anurag Panwar
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This presentation is a general overview about Down syndrome. It covers topics such as introduction, definition, etiology, signs/symptoms, associated abnormalities, diagnosis, treatment, prevention, and conclusion. The presentation also includes a list of references.
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DOWN SYNDROME PRESENTED BY: AYAAN IMTIYAZ FATHIMATHUL FEMINA ANURAG PANWAR CONTENT 1. INTRODUCTION 2. DEFINITION 3. ETIOLOGY 4. SIGN/SYMPTOMS 5. ASSOCIATED ABNORMALITIES 6. DIAGNOSIS 7. TREATMENT 8. PREVENTION 9. CONCLUSION INTRODUCTION Down s...
DOWN SYNDROME PRESENTED BY: AYAAN IMTIYAZ FATHIMATHUL FEMINA ANURAG PANWAR CONTENT 1. INTRODUCTION 2. DEFINITION 3. ETIOLOGY 4. SIGN/SYMPTOMS 5. ASSOCIATED ABNORMALITIES 6. DIAGNOSIS 7. TREATMENT 8. PREVENTION 9. CONCLUSION INTRODUCTION Down syndrome was named after John Langdon Down Its most common chromosomal disorder This condition associated with variety of congenital anomalies. DEFINITION Down syndrome (trisomy 21 ) is a genetic condition where people are born with an extra chromosome. A person diagnosed with Down syndrome has an extra copy of chromosome 21, which means their cells contain 47 total chromosomes instead of 46. This changes the way their brain and body develop ETIOLOGY 1. NONDISJUNCTION (94% of all cases) : there are 3 copies of chromosome 21 instead of usual 2 copies. This caused by abnormal cell division during the development of the sperm and egg cell 2. TRANSLOCATION (4% ) : segment of a 21 chromosome is found attached to othr pairs of chromosomes 3. MOSAICISM (1%) : these type some cell have 3 copies of chromosome 21, but other cell have the tyoical 2 c0pies of chromosome 21 SIGN & SYMPTOMS PHYSICAL SIGNS OF DOWN SYNDROME A round flat face A flat nose bridge. Slanted eyes that point upward. A short neck. Small ears, hands and feet. Weak muscle tone at birth. Small pinky finger that points inward towards the thumb. One crease in the palm of their hand (palmar crease). Shorter-than-average height ASSOCIATED ABNORMALITIES Congenital heart disease Gastrointestinal malformation – duodenal atresia, Hirschsprug disease Ophthalmic problems – cataract, nystagmus Hearing defect Retarded linear growth with slow developmental progress Maglinancies - leukemia DIAGNOSIS : Diagnostic tests during pregnancy : Amniocentesis. Chorionic villus sampling (CVS). Percutaneous umbilical blood sampling (PUBS). These tests can detect chromosomal changes that lead to a Down syndrome diagnosis. After birth physical examination and Karyotype test TREATMENT : Treatment focuses on helping your child thrive physically and mentally. Treatment options could include: Physical or occupational therapy. Speech therapy. Participating in special education programs in school. Treating any underlying medical conditions. Wearing glasses for vision problems or assisted hearing devices for hearing loss. PREVENTION You can’t prevent Down syndrome since it’s a genetic condition We can provide Prenatal genetict testings. 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. So, it is necessary to screen all pregnant women for DS. NIPS for fetal aneuploidy which was presented into clinical practice since November 2011 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 REFERENCES 1. Antonarakis SE, Lyle R, Dermitzakis ET, et al. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004;5:725– 38. [PubMed] [Google Scholar] 2. Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev. 2002;8:117–34. [PubMed] [Google Scholar] 3. 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 21. Eur J Hum Genet. 2009;17:454–66. [PMC free article] [PubMed] [Google Scholar] 4. Murthy SK, Malhotra AK, Mani S, et al. Incidence of Down syndrome in Dubai, UAE. Med Princ Pract. 2007;16:25–8. [PubMed] [Google Scholar] 5. Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome in Qatar. Clin Genet. 2006;69:360–2. [PubMed] [Google Scholar]
