• Share
  • Email
  • Embed
  • Like
  • Save
  • Private Content
Down syndrome
 

Down syndrome

on

  • 54 views

 

Statistics

Views

Total Views
54
Views on SlideShare
54
Embed Views
0

Actions

Likes
0
Downloads
2
Comments
0

0 Embeds 0

No embeds

Accessibility

Categories

Upload Details

Uploaded via as Microsoft PowerPoint

Usage Rights

© All Rights Reserved

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Processing…
Post Comment
Edit your comment

    Down syndrome Down syndrome Presentation Transcript

    • CSN Vittal
    • 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
    • CSN Vittal Incidence  1 in 700 - 800 births
    • 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
    • CSN Vittal Nondisjunction
    • CSN Vittal Robertsonian translocation
    • CSN Vittal Mosaicism
    • CSN Vittal Karyotype
    • 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
    • CSN Vittal Advanced maternal age
    • 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
    • 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
    • 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
    • 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
    • CSN Vittal Clinical Features
    • 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
    • CSN Vittal Dermatoglyphics
    • 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
    • CSN Vittal Clinical Features Simian Sydney
    • 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
    • CSN Vittal Popular Down Syndrome Stereotype  Happy  Affectionate  Pleasant and  Music loving
    • CSN Vittal D/D  Cretinism  Fragile X syndrome
    • CSN Vittal Investigations  U/s – Double bubble  Echo - AV canal defects  X- Ray – Short femur or humerus  Echogenic small bowel
    • CSN Vittal Screening 1. Serum α-fetoprotein - Decreased 2. Unconjugated estradiol level - Decreased 3. Human chorionic gonadotrophin - Incresed Triple Test – 65% detection rate
    • 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
    • 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
    • CSN Vittal Diagnosis 1. Thickened nuchal fold 2. Absent nasal bone 3. Short femur 4. Cardiac or GI anomalies U/S. Abdomen
    • 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
    • CSN Vittal Screening – 1st Trimester Maternal serum PAPP – A Increased Maternal free β hCG Increased Fetal nuchal translucenceny thickness > 4 mm (USG)
    • CSN Vittal Screening – 2nd Trimester AFP Decrease hCG Increase E 3 Decrease Inhibin A Increase
    • 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
    • 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)
    • CSN Vittal
    • CSN Vittal
    • 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
    • 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
    • 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%
    • 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.
    • 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
    • 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)
    • 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)
    • 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)
    • 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
    • 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.
    • 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.
    • 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.
    • 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.
    • 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
    • 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
    • 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)
    • 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
    • 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)
    • CSN Vittal Than Q - Vittal