Down syndrome

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Down syndrome

  1. 1. CSN Vittal
  2. 2. CSN Vittal History  First described by John Langdon Down, 1866  Trisomy 21 described by Professor Jérôme Lejeune & Turpin in 1959  In 1975, NIH suggested that possessive use of eponym should be discontinued
  3. 3. CSN Vittal Incidence  1 in 700 - 800 births
  4. 4. CSN Vittal Aetiology  95 % meiotic non-disjunction  4 % Robertsonian translocation (from Chr 14 or 21 / 22)  1% due to mitotic non-disjunction with mosaicism  In 75 % of cases extra chromosome is of maternal origin
  5. 5. CSN Vittal Nondisjunction
  6. 6. CSN Vittal Robertsonian translocation
  7. 7. CSN Vittal Mosaicism
  8. 8. CSN Vittal Karyotype
  9. 9. CSN Vittal Advanced maternal age Maternal Age Risk of Down Syndrome 15 – 29 yrs 1 : 1500 30 – 34 yrs 1 : 800 35 – 39 yrs 1 : 270 40 – 45 yrs 1 : 100 45 and above 1 : 50
  10. 10. CSN Vittal Advanced maternal age
  11. 11. CSN Vittal Clinical Features  Hair : Sparse, soft, wooly  Head : Microcephaly, brachycephaly, wide AF  Face : Flat face, mid facial hypoplasia, flattened nasal bridge, dysplastic pinnae  Tongue : Furrowed, protruding scrotal tongue,  Nose : Pug nosed (cartilaginous part wide and triangular)  Ears: Low set, funnel shaped, lop ears, conductive hearing loss – middle ear disease  Oral Cavity: High arched palate,  Neck : Short with pterygium coli
  12. 12. CSN Vittal Clinical Features - Eyes:  Upslanting,  myopia, hypermetropia  strabismus,  Brushfield spots,  Cataracts : Y – Suture, arctuate, numerous flakes  glaucoma  Keratoconus, blepharitis  Interpupilary distance increased  Medial epicanthal folds  Hypertelorism  Nystagmus
  13. 13. CSN Vittal Clinical Features  Chest: CVS Defects: 40-60% 43 % AV Canal defects, 10% Ostium primum ASD, 32 % VSD, PDA, 6% Fallot’s tetrology  Skin: Roughened or hyperelastic / Norwegian scabies  Endocrine Thyroid: hypothyroidism in 30% Pituitory tumors Boys - sterile  GI : TEF, duodenal atresia, omphalocele, annular pancrease, microcolon, anorectal anomalies, Meckel’s diverticulam, aganglionic megacolon
  14. 14. CSN Vittal Clinical Features  Extremities – Upper Limb: ○ Short and stumpy fingers (Brachydactyly), Clinodactyly, ○ Simian crease (Siegert sign)  Lower limb: Distance between first and 2nd toe increased Kennedy crease – Deep vertical crease in between first and second toes  Acetabula are shallow- flattened lower edges  Ribs: Absence of one pair, 12th rib anomalies
  15. 15. CSN Vittal Clinical Features
  16. 16. CSN Vittal Dermatoglyphics  Ulnar loops in most digits  Radial loops in fingers 4 and 5  Distal axial triradius or large ATD angle  Arch tibial or small loop distal in hallucal area  Simian crease, single crease on finger 5
  17. 17. CSN Vittal Dermatoglyphics
  18. 18. CSN Vittal Clinical Features  Musculoskeletal: Hypotonia with flabby muscles Hyperextensible joints Atlanto axial dislocation  Hematological ALL – 97 fold increased risk Myeloproliferative disoders Thrombocytopenia Juvenile chronic myeloid leukemia Macrocytosis
  19. 19. CSN Vittal Clinical Features Simian Sydney
  20. 20. CSN Vittal Clinical Features  CNS West syndrome Moderate to severe MR Epilepsy in 5 – 10 % Alzheimer’s like syndrome  Immune System Cellular immune disorders IgM levels decreased Prone for viral UR infection
  21. 21. CSN Vittal Popular Down Syndrome Stereotype  Happy  Affectionate  Pleasant and  Music loving
  22. 22. CSN Vittal D/D  Cretinism  Fragile X syndrome
  23. 23. CSN Vittal Investigations  U/s – Double bubble  Echo - AV canal defects  X- Ray – Short femur or humerus  Echogenic small bowel
  24. 24. CSN Vittal Screening 1. Serum α-fetoprotein - Decreased 2. Unconjugated estradiol level - Decreased 3. Human chorionic gonadotrophin - Incresed Triple Test – 65% detection rate
  25. 25. CSN Vittal Diagnosis 1. Serum α-fetoprotein - Decreased 2. Unconjugated estradiol level - Decreased 3. Human chorionic gonadotrophin - Incresed + 4. Inhibin A - Incresed Quadruple Test - 75% detection rate
  26. 26. CSN Vittal Diagnosis 1. This test measures the alpha feto protein, produced by the fetus, and 2. free beta hCG, produced by the placenta. AFP / free beta screen - 80% detection rate
  27. 27. CSN Vittal Diagnosis 1. Thickened nuchal fold 2. Absent nasal bone 3. Short femur 4. Cardiac or GI anomalies U/S. Abdomen
  28. 28. CSN Vittal Diagnosis  Uses ultrasound to measure Nuchal Translucency in addition to the  Free Beta hCG and  PAPPA (pregnancy-associated plasma protein A). NIH has confirmed that this first trimester test is more accurate than second trimester screening methods. Nuchal translucency / free beta / PAPPA screen: 91% detection rate
  29. 29. CSN Vittal Screening – 1st Trimester Maternal serum PAPP – A Increased Maternal free β hCG Increased Fetal nuchal translucenceny thickness > 4 mm (USG)
  30. 30. CSN Vittal Screening – 2nd Trimester AFP Decrease hCG Increase E 3 Decrease Inhibin A Increase
  31. 31. CSN Vittal Diagnosis 1. Only 11 ribs 2. 2 to 3 ossification centres for manubrium 3. Hypoplasia of skull and facial bones, middle phalanx of little finger 4. Accessory epiphyses for 2nd metacarpal 5. Coxa valga 6. Pelvis – ilia are broad and flaring, acetabular and iliac angles are reduced X- Ray
  32. 32. CSN Vittal Diagnosis The sum of both the acetaular and both iliac angles divided by two:  Normal = 81  In Down syndrome = < 60 Iliac Index in 2nd trimester – (80% accuracy)
  33. 33. CSN Vittal
  34. 34. CSN Vittal
  35. 35. CSN Vittal Down syndrome diagnosis - overview 1st Trimester • PAPPA  • β HCG  • Nu Thickness  85% 2nd Trimester • MS AFP  • E 3  • b HCG  •INHIBIN  60% 76% Integrated Tests 94% NasaL Bone absent : 1st trimester
  36. 36. CSN Vittal Management  Antioxidants like Zn – Alzheimer’s disease  AEDs – for epilepsy  CVS / GI Abnormalities : Corrective surgeries  Refractory errors : Appropriate lenses  Speech & Language Defects: Specialist speech therapies  Anemia: Appropriate nutrients  Hypothyroidism : Thyroxine  Skin disorders : Moisteners, appropriate therapies  Low cholesterol diet  Immune deficiencies: Vitamin C and Antibiotics
  37. 37. CSN Vittal Risk of Recurrence  Robertsonian Translocation 21 – 13, 14, 15 Female carrier : 15% Male carrier : 5%  Robertsonian Translocation 21 – 22 Female carrier : 10% Male carrier : 2%  Robertsonian Translocation 21 – 21 Female or Male : 100%
  38. 38. CSN Vittal Management  Karyotype testing, if not already done  Hearing tests, which may be done at birth or by 3 months of age.  A complete blood count (CBC). Check for signs of leukemia.  A blood test to check for thyroid problems (usually hypothyroidism).  A complete heart evaluation About 40% to 50% of babies with Down syndrome have heart defects. Birth to 1 mo.
  39. 39. CSN Vittal Management  Ear problems.  50% to 70% risk for ear problems - otitis media with effusion  A special hearing test (behavioral audiogram) should be given at 1 year of age. The Down Syndrome Medical Interest Group (DSMIG) recommends another hearing evaluation at 6 months of age  Eye problems.  Strabismus, cataracts, and nystagmus by 6 months of age.  Thyroid function.  at 6 months and 12 months (and annually after 1 year of age).  Growth and weight gain.  Immunizations. 1 mo. To 1 year
  40. 40. CSN Vittal Management  X-rays to evaluate bones in the neck  Dislocation of the neck bones (atlantoaxial dislocation). between ages 3 and 5 to look for signs of loose ligaments that may lead to dislocation. These may be done only once.  Additional X-rays –  if child wants to participate in Special Olympics or  if symptoms such as neck soreness. Early Childhood (1 to 5 yrs)
  41. 41. CSN Vittal Management  Skin problems. Extreme dryness, acne, or other problems may develop during puberty that can get worse if they are not recognized and treated.  Sleep apnea. You may be asked questions about your child's sleeping habits, such as whether he or she snores or is restless. Middle and Late Childhood (5 to 13 yrs)
  42. 42. CSN Vittal Management  Skin problems.  Thyroid function.  Hearing problems.  Eye problems. A teenager or adult should have a thorough eye exam every year. Adolescence (13 to 21 yrs)
  43. 43. CSN Vittal Management  Symptoms of sleep apnea.  Behavioral changes or signs of mental health problems.  Dementia.  Weight gain and signs of obesity.  Heart problems, such as mitral valve prolapse or aortic valve regurgitation.  Problems with the reproductive organs.  Women will have yearly breast exams.  Should be screened for thyroid problems every year.  Hearing should be tested every 1 to 2 years.  Should have a thorough eye exam every year Adulthood
  44. 44. CSN Vittal Skill Development  Walking and other motor development milestones. Help your baby and young child strengthen muscles through directed play. Exercise program to help your child maintain and increase muscle strength and physical skills.
  45. 45. CSN Vittal Skill Development  Self-feeding. You can help your child learn to eat independently by sitting down together at meals. Use gradual steps to teach your child how to eat, starting with allowing the child to eat with his or her fingers and offering thick liquids to drink.
  46. 46. CSN Vittal Skill Development  Dressing. Teach your child how to dress himself or herself by taking extra time to explain and practice.  Communicating. Simple measures, such as looking at your baby while speaking or showing and naming objects, can help your baby learn to talk.
  47. 47. CSN Vittal Skill Development  Grooming and hygiene. Help your child learn the importance of being clean and looking his or her best. Establish a daily routine for bathing and getting ready. Gradually add new tasks to the routine, such as putting on deodorant.
  48. 48. CSN Vittal  Often different types of therapy, such as speech therapy, can help children with Down syndrome learn necessary skills. These therapies are used throughout life, even during adulthood. The specifics change as your child grows and develops.  Be aware of his or her vulnerabilities and potential social problems. Although your child can overcome
  49. 49. CSN Vittal Life Expectations  The typical life expectancy of people with Down syndrome has nearly doubled in recent decades, from 25 years in 1983 to 49 years in 1997  About 13% of people with Down syndrome live longer than 68 years
  50. 50. CSN Vittal System wise problems in Down’s Neuropsychiatric  MR  Alzheimer like disease after 25 yrs  Autistic behaviour CVS  CHD 40% - AV cushion defects before 10 mo.  Cor pulmonale due to nasopharyngeal obstruction due to tonsillitis / adenoiditis, hypotonia of pharyngeal muscles, maldevelopment of upper airways GIT  Atresia of gut ( 8% newborns with Duodenal atresia)  Hirschprung’s disease Otological  Impaired hearing (60-70% due to middle ear effusion)  Wax ( because auditory canal is narrow)
  51. 51. CSN Vittal System wise problems in Down’s Ocular  Congenital cataracts 1% ( correct before 3 mo.)  Nystagmus (5-30%)  Strabismus (23-44%)  Blepharitis (2-67%)  Refractoconus (5-8%)  Refractive Errors (70-80%)  Tear duct stenosis  Cataract after 25 yrs (12-86%) Immune system  Frequent infections  Hepatitis B  Autoimmune diseases  Celiac disease  Trace element deficiency
  52. 52. CSN Vittal System wise problems in Down’s Endocrine  Congenital hypothyroidism 1%  Thyroid antibodies  Hypo or hyperthyroidism  Growth retardation – (selective def. of insulin like growth factor 1 - result of hypothalamic dysfunction)  Girls fertile – boys sterile Orthopedic  Muscle hypotonia  Joint laxity  Dislocation of patella and hip  Epiphysiolysis of hip  Hallus valgus  Atlantoaxial dislocation ( 10% radilolgically)
  53. 53. CSN Vittal Than Q - Vittal

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