Q&A COUNT: 31*
HISTORY:
Reason for Recurrent Respiratory Infections in Down's baby
1. Immunosuppression
2. Hypotonia
Down's syndrome - Developmental milestones:
Developmental delay in social and language milestones (due to mental retardation)
EXAMINATION:
Hall's Criteria for Down's syndrome
Hall's criteria composed of 10 neonatal signs, out of which presence of more than 6/10 is more probable for Down's syndrome
1. Poor Moro Reflex
2. Hypotonia
3. Flat Facial profile
4. Upward slanting palpebral fissures
5. Morphologically, simple small round ears
6. Redundant loose neck skin
7. Single Palmar crease
8. Hyperextensible large joints
9. Pelvis radiograph morphologically abnormal
10. Hypoplasia of 5th finger middle phalanx
HISTORY:
Reason for Recurrent Respiratory Infections in Down's baby
1. Immunosuppression
2. Hypotonia
What is recurrent Respiratory Tract infection? (or) Tell criteria to say it is recurrent RTI
6-8 episodes of Respiratory Infection in every year
What is Floppy infant?
Floppy infant refers to an infant with severely reduced muscle tone, most often due to an insult in the foetal or neonatal period.
There is decreased resistance to passive range of movements with variable degree of muscle weakness
Quickening will be felt late*
Can be related to our cases:
1. Down syndrome
2. Congenital hypothyroidism in neonatal jaundice
3. Cerebral palsy
What is Floppy infant?
Floppy infant refers to an infant with severely reduced muscle tone, most often due to an insult in the foetal or neonatal period.
There is decreased resistance to passive range of movements with variable degree of muscle weakness
Quickening will be felt late*
Can be related to our cases:
1. Down syndrome
2. Congenital hypothyroidism in neonatal jaundice
3. Cerebral palsy
Down's syndrome - Developmental milestones:
Developmental delay in social and language milestones (due to mental retardation)
EXAMINATION:
Hall's Criteria for Down's syndrome
Hall's criteria composed of 10 neonatal signs, out of which presence of more than 6/10 is more probable for Down's syndrome
1. Poor Moro Reflex
2. Hypotonia
3. Flat Facial profile
4. Upward slanting palpebral fissures
5. Morphologically, simple small round ears
6. Redundant loose neck skin
7. Single Palmar crease
8. Hyperextensible large joints
9. Pelvis radiograph morphologically abnormal
10. Hypoplasia of 5th finger middle phalanx
Features of Down's syndrome in examination
Vitals:
RR can be increased in case of ARI
Head to Toe examination: (very important and must asked)
- Short stature
- Head - Brachycephaly
- Face - Dysmorphic "Mongoloid" facies/ slant*, Small dysplastic ears
- Eyes - Brush field spots in iris, Cataract, Epicanthic folds of skin extending from upper lid to cover medial canthus of eye
- Oral cavity - High arched palate, fissured tongue
- Neck - Skin folds in neck
- Hand - Clinodactyly, Brachydactyly, Syndactyly, Low set thumb, Simian crease, Distal t triradius, Ulnar loops, Increased atd angle
- Chest - Short sternum
- External Genitalia - Small
- Feet - Kennedy crease**, Sandal gap**
Anthropometry:
Short stature
Microcephaly - HC less than 3rd percentile
Systemic examination:
CVS - VSD or Endocardial cushion defect can cause murmurs
CNS: Hypotonia, Hearing tests can reveal deafness (due to recurrent otitis media) (just know - don't comment this in exams)
What is Mongoloid facies?
Comprises the following:
1. Flat facial profile
2. Flat nasal bridge
3. Mongoloid slant - outer canthus at a higher level than inner canthus* (most important)
4. Hypertelorism
5. Small mouth
6. Protruding tongue
Seen in Down's syndrome
Criteria for Short Neck?
Measure distance between occipital prominence and C7 vertebra
If this distance/total body height =13: it is normal
If this distance/total body height >14: it is a case of SHORT NECK
Criteria for Micropenis?
Less than -2.5 SD for any age
(or)
Less than 2.5 cm at birth
Normal Penis Size
Birth - 4 cm
4 years - 5 cm
11 years - 6 cm
Adolescent - 12 cm
How to assess Brachycephaly?
Using CRANIAL INDEX
Cranial Index = (Biparietal diameter/Occipitofrontal diameter) x 100
Normal Cranial index = 76-80
Cranial Index in Brachycephaly = 81-85
Criteria for Hypertelorism?
Using Canthal Index
Canthal Index = (Distance between inner canthus/ Distance between outer canthus) x 100
Normal Canthal index = 33-38
In Hypertelorism, canthal index will be >38
Criteria for Low set ears
Normally, 1/3rd of ear lies above outer canthus and 2/3rd of ear lies below outer canthus of eye.
If <1/3rd of ear lies above outer canthus of eye, we can call it as "Low set ears"
What is Clinodactyly?
Congenital radial or ulnar deviation of little finger
What is Syndactyly?
Fusion or webbing of two or more digits
What is Polydactyly?
More than 5 fingers
What is Brachydactyly?
Short and stubby fingers
Criteria for Short Neck?
Measure distance between occipital prominence and C7 vertebra
If this distance/total body height =13: it is normal
If this distance/total body height >14: it is a case of SHORT NECK
Criteria for Micropenis?
Less than -2.5 SD for any age
(or)
Less than 2.5 cm at birth
Normal Penis Size
Birth - 4 cm
4 years - 5 cm
11 years - 6 cm
Adolescent - 12 cm
How to assess Brachycephaly?
Using CRANIAL INDEX
Cranial Index = (Biparietal diameter/Occipitofrontal diameter) x 100
Normal Cranial index = 76-80
Cranial Index in Brachycephaly = 81-85
Criteria for Hypertelorism?
Using Canthal Index
Canthal Index = (Distance between inner canthus/ Distance between outer canthus) x 100
Normal Canthal index = 33-38
In Hypertelorism, canthal index will be >38
Criteria for Low set ears
Normally, 1/3rd of ear lies above outer canthus and 2/3rd of ear lies below outer canthus of eye.
If <1/3rd of ear lies above outer canthus of eye, we can call it as "Low set ears"
What is Clinodactyly?
Congenital radial or ulnar deviation of little finger
What is Syndactyly?
Fusion or webbing of two or more digits
What is Polydactyly?
More than 5 fingers
What is Brachydactyly?
Short and stubby fingers
Dermatoglyphics in Down's syndrome
1. Simian crease
2. Kennedy crease
3. Sydney line
4. Increased atd angle
5. Ulnar loops on most fingers. Radial loops on fingers 4,5
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| Angle between two creases forming atd angle will be obtuse. Look at your hand - you can see it to be acute* (This picture is taken from Aruchamy textbook of Paediatrics) |
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| In Down's syndrome, fingerprint will be of Loop type towards ulnar side of hand. (This picture is taken from Aruchamy textbook of Paediatrics) |
What is Kennedy crease?
Deep sole crease between first and second toes
Seen in Down's syndrome
What is Simian crease?
Single palmar crease running across the palm fully - due to fusion of two distal creases
Associated with Down's syndrome
If there are two transverse creases and proximal one runs fully across palm, then it is called Sydney line* (seen in Down's syndrome and Congenital Rubella)
What is Sandal Gap?
Wide gap between the 1st and 2nd toes
Seen in Down's syndrome
MANAGEMENT:
Diagnosis of Down's syndrome
Before Birth: (Prenatal Diagnosis)
1. During 1st Trimester
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
(c) Amniocentesis for Karyotyping
2. During 2nd Trimester:
(a) Triple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG (or)
(b) Quadruple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG, Inhibin A
Diagnosis After birth: Karyotyping
What is Integrated screening Test for Down's syndrome?
Done in both 1st and 2nd Trimesters:
1. During 1st Trimester
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
2. During 2nd Trimester:
Quadruple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG, Inhibin A
What is Combined screening test for Down's syndrome?
Done in 1st Trimester only:
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
(c) Beta hCG levels
MANAGEMENT:
Diagnosis of Down's syndrome
Before Birth: (Prenatal Diagnosis)
1. During 1st Trimester
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
(c) Amniocentesis for Karyotyping
2. During 2nd Trimester:
(a) Triple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG (or)
(b) Quadruple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG, Inhibin A
Diagnosis After birth: Karyotyping
What is Integrated screening Test for Down's syndrome?
Done in both 1st and 2nd Trimesters:
1. During 1st Trimester
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
2. During 2nd Trimester:
Quadruple screening test - Serum estradiol, Alpha fetoprotein, Beta hCG, Inhibin A
What is Combined screening test for Down's syndrome?
Done in 1st Trimester only:
(a) Ultrasound Nuchal Translucency scan (NT thickness >3 mm is suggestive of Down's)
(b) Pregnancy Associated Plasma Protein A (PAPP-A)
(c) Beta hCG levels
Complications of Down's syndrome
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| This picture is taken from Aruchamy textbook of Paediatrics |
Evaluation in a case of Down's syndrome
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| This picture is taken from OP Ghai textbook of Paediatrics |
Treatment in case of Down's syndrome
Treat Complications
1. Hypothyroidism - give Thyroxine supplements
2. Cataracts - cataract surgery
3. Hearing loss - Hearing aids
4. GI anomalies - corrective surgeries and re-anastamosis
5. VSD/ Heart defects - corrective surgeries
Genetic counselling in a case of Down's syndrome
1. Assess risk of recurrence for Down's syndrome during next conception
2. Prenatal diagnosis and medical abortion, if chances for Down's are there for next baby
If first baby of a mother is having Down's, how to assess RISK OF RECURRENCE in the second baby?
Treat Complications
1. Hypothyroidism - give Thyroxine supplements
2. Cataracts - cataract surgery
3. Hearing loss - Hearing aids
4. GI anomalies - corrective surgeries and re-anastamosis
5. VSD/ Heart defects - corrective surgeries
Genetic counselling in a case of Down's syndrome
1. Assess risk of recurrence for Down's syndrome during next conception
2. Prenatal diagnosis and medical abortion, if chances for Down's are there for next baby
If first baby of a mother is having Down's, how to assess RISK OF RECURRENCE in the second baby?
- Meiotic non disjunction - 10-20% chances of recurrence
- Robertsonian Translocation (21:21) - 100% chance of recurrence
- Mosaicism - 5-10% recurrence
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| This picture is taken from Aruchamy textbook of Paediatrics |
DISCUSSION:
Why Down's baby are called Happy Puppets?
Because they are MUSIC LOVERS and VERY ATTACHED TO MOM