Download - Down syndrome
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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
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Incidence
1 in 700 - 800 births
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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
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Nondisjunction
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Robertsonian translocation
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Mosaicism
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Karyotype
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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
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Advanced maternal age
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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
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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
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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
EndocrineThyroid: hypothyroidism in 30%Pituitory tumorsBoys - sterile
GI : TEF, duodenal atresia, omphalocele, annular pancrease, microcolon, anorectal anomalies, Meckel’s diverticulam, aganglionic megacolon
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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
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Clinical Features
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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
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Dermatoglyphics
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Clinical Features Musculoskeletal:
Hypotonia with flabby musclesHyperextensible jointsAtlanto axial dislocation
HematologicalALL – 97 fold increased riskMyeloproliferative disodersThrombocytopeniaJuvenile chronic myeloid leukemiaMacrocytosis
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Clinical Features
Simian Sydney
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Clinical Features CNS
West syndrome Moderate to severe MREpilepsy in 5 – 10 %Alzheimer’s like syndrome
Immune SystemCellular immune disordersIgM levels decreasedProne for viral UR infection
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Popular Down Syndrome Stereotype
Happy
Affectionate
Pleasant and
Music loving
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D/D
Cretinism Fragile X syndrome
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Investigations
U/s – Double bubble Echo - AV canal defects X- Ray – Short femur or humerus Echogenic small bowel
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Screening
1. Serum -fetoprotein - Decreased
2. Unconjugated estradiol level - Decreased
3. Human chorionic gonadotrophin - Incresed
Triple Test – 65% detection rate
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Diagnosis
1. Serum -fetoprotein - Decreased
2. Unconjugated estradiol level - Decreased
3. Human chorionic gonadotrophin - Incresed
+4. Inhibin A - Incresed
Quadruple Test - 75% detection rate
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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
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Diagnosis
1. Thickened nuchal fold
2. Absent nasal bone
3. Short femur
4. Cardiac or GI anomalies
U/S. Abdomen
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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
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Screening – 1st Trimester
Maternal serum PAPP – A Increased
Maternal free hCG Increased
Fetal nuchal translucenceny thickness
> 4 mm (USG)
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Screening – 2nd Trimester
AFP Decrease
hCG Increase
E 3 Decrease
Inhibin A Increase
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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
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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)
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Down syndrome diagnosis - overview
1st Trimester
• PAPPA • HCG • Nu Thickness
85%
2nd Trimester
• MS AFP • E 3 • b HCG
•INHIBIN
60%76%
Integrated Tests94%
NasaL Bone absent : 1st trimester
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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
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Risk of Recurrence
Robertsonian Translocation 21 – 13, 14, 15Female carrier : 15%Male carrier : 5%
Robertsonian Translocation 21 – 22Female carrier : 10%Male carrier : 2%
Robertsonian Translocation 21 – 21Female or Male : 100%
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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.
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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
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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)
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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)
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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)
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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
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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.
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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.
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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.
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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.
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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
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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
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System wise problems in Down’sNeuropsychiatric 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)
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System wise problems in Down’sOcular 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
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System wise problems in Down’sEndocrine 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)
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Than Q - Vittal