Paediatrics Flashcards

1
Q

What defines a pre term baby?

A

Born before 37 weeks gestation

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2
Q

How do you assess a baby when they are born?

A

Breathing, heart rate, colour, tone and response to stimulation
APGAR score

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3
Q

How do you keep premature babies warm when they are first born?

A

Keep the baby warm using a plastic bag under a radiant heater

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4
Q

What might a baby with respiratory distress syndrome look like?

A

Tachypnoea, grunting, cyanosis
Flaring of alae nasi
Intercostal and subcostal retractions

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5
Q

What management may be required for a baby with respiratory distress syndrome?

A

May need oxygen, CPAP (generate pressure below vocal cords to inflate lungs) or ventilation

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6
Q

What cardiovascular problems may be present in a premature baby?

A

Cardiovascular: ductus venosus and foramen ovale need to close
Hypotension: heart not pumping properly, not enough blood volume
Patent ductus arteriosus: Blood flow back into pulmonary system, increase stress on lungs, compliance of lungs change, need more pressure to inflate

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7
Q

What is a Qp/Qs ratio? And what is it used to measure?

A

Left to right shunt resulting in fully oxygenated blood recirculating through the lungs
Qp: pulmonary flow
Qs: systemic flow
Normal ratio of 1 because volume to lungs is equal to volume systemically
In patient with left to right shunt, Qp/Qs is greater than 1

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8
Q

What can be used to help close a patent ductus arteriosus?

A

Surgery: ligation, manually or with intravascular coils
NSAIDs: prostaglandin e2 keeps the duct open so block this with indomethacin or ibuprofen

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9
Q

If a pre term baby weighs below 1500g, what nutritional management should be given?

A

Total parenteral nutrition

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10
Q

Why are pre term babies prone to sepsis?

A

T and b cells, Opsonins and complement immature, bugs which dont make us ill, will make them ill

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11
Q

What signs might be visible that a pre term baby has necrotising enterocolitis?

A

Feeding intolerance
Abdominal distension
Bloody stools
Increased gastric residuals: volume of fluid remaining in stomach during enteral nutrition feeding

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12
Q

When are intraventricular haemorrhages most likely to happen in pre term infants?

A

First 7-14 days

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13
Q

Why are pre term infants particularly prone to intraventricular haemorrhage?

A

Blood vessels in brain are not fully developed and are fragile

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14
Q

What are the different grades of intraventricular haemorrhage?

A

Grade 1-2: smaller amount of bleeding, most of the time, no long term problems
Grade 3-4: more severe bleeding, blood presses on (3) or directly involves (4) brain tissue. Blood clots can form and block the flow of CSF which can lead to hydrocephalus

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15
Q

What are symptoms of intraventricular haemorrhage?

A
Apnoea 
Changes in BP and heart rate
Decreased muscle tone
Decreased reflexes
Excessive sleep
Lethargy
Weak suck
Seizures or other abnormal movements
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16
Q

What tests can be done to check for intraventricular haemorrhage?

A

All babies born before 30 weeks should have an ultrasound of the head in 1-2 weeks of life
Second screen around the time baby was due to be born

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17
Q

What is Cystic periventricular leukomalacia?

A

White matter brain injury characterised by necrosis of white matter near lateral ventricles, decreased blood flow or oxygen to this region, damage to glial cells
Premature infants at highest risk
Motor control problems, developmental delays, develop cerebral palsy or epilepsy later in life

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18
Q

What increases risk of peri ventricular leukomalacia occurring?

A
If baby has had intraventricular haemorrhage 
Uterine infections
Premature rupture of membranes
Premature babies
Very low birthweight babies
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19
Q

What problems do pre term babies encounter after delivery?

A

Get cold even faster
Have more fragile lungs
Don’t breathe effectively
Have fewer reserves

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20
Q

What percentage of babies born at 25 weeks or below develop cerebral palsy?

A

20%

Disabling cerebral palsy: 12%

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21
Q

What long term neurodevelopmental outcomes are common in pre term babies?

A
Cerebral palsy/ motor delay
Cognitive impairment/ learning difficulties
Speech, hearing, visual impairment
Epilepsy
Behavioural – ADHD, autism
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22
Q

How do we improve outcomes for pre term babies?

A

Antenatal magnesium sulfate
Antenatal corticosteroids
Better neonatal care
Research

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23
Q

What is magnesium sulfate used for in pre term infants?

A

IV before birth reduces risk of cerebral palsy and motor dysfunction in preterm infants

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24
Q

You are undertaking normal newborn screening examination on 30 hours old newborn infant on postnatal ward. You note that baby appears jaundiced. What History would you take?

A
How many weeks gestation?
What birth weight?
Was the delivery normal and vaginal?
Apgar scores at 1 min and 5 min
Has baby breast fed satisfactorily?
Was the pregnancy uneventful?
What is mother's blood group? 
Did antenatal serology show anything?
Has baby passed stools/urine? Meconium? What colour?
Are parents both well?
Have they had previous pregnancies/babies? Any problems with these?
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25
You are undertaking normal newborn screening examination on 30 hours old newborn infant on postnatal ward. You note that baby appears jaundiced. On examination he was not dehydrated, however he was visibly jaundiced. He was not bruised. There was no splenomegaly but the liver was palpable 1 cm below the costal margin in the mid-clavicular line. There were no other positive findings. What are possible diagnoses?
Physiological jaundice: breakdown of foetal haemoglobin as it is replaced with adult haemoglobin, immature metabolic pathways of the liver which are unable to conjugate and excrete bilirubin as quickly as an adult Pathological jaundice: lasting >2 weeks, if jaundice doesn't clear with phototherapy, other causes considered - biliary atresia, progressive familial intrahepatic Cholestasis, bile duct paucity, alagille syndrome, alpha 1-anti trypsin deficiency
26
What 3 important tests would you do on a recently delivered baby with jaundice?
Transcutaneous bilirubinometer: measures bilirubin levels Blood groups: group and DCT (direct Coombs test for autoimmune haemolytic anaemia) FBC/blood film for haemolysis
27
What management would you use for a recently delivered baby with jaundice?
Monitor bilirubin, ensure feeding, phototherapy (helps conjugation process)
28
On the post natal ward you performed a routine newborn screening examination on a 2 day old female newborn baby and noted a loud systolic murmur. What further history would you take?
``` Family history of heart defects? Foetal anomaly scan show anything? Normal vaginal delivery? Any previous pregnancies/babies? How many weeks gestation was baby born at? Apgar scores at 1 min and 5 min Birth weight? ```
29
On the post natal ward you performed a routine newborn screening examination on a 2 day old female newborn baby and noted a loud systolic murmur. On examination the child was peripherally cyanosed. The respiratory rate was 60 and heart rate was 140 per minute. There were no added sounds on auscultation of the lungs. Heart sounds were normal. There was an obvious systolic murmur loudest at the left sternal edge. Femoral pulses were easily felt and the liver was palpable 1 cm below the costal margin. What is the likely diagnosis?
Patent ductus arteriosus
30
What tests would you do on a recently delivered baby with a systolic murmur heard loudest on the left sternal edge?
Pulse oximetry: looking for mixing of deoxygenated and oxygenated blood Right arm: pre ductal Left arm: pre or post ductal Legs: post ductal sats Want them to be bigh and not much difference between the pre and post Testing for patent ductus arteriosus
31
You are asked by midwife to review a baby on labour ward at 30 minutes of age for grunting and tachypnoea. Baby is male infant born at 38 weeks gestation weighing 3.4 kg. what further history would you take?
``` Pregnancy uneventful? Any group B streptococcus colonisation? Spontaneous onset labour? How long membranes ruptured for? Temperature? CTG normal? Meconium stained liquor? Need much resuscitation at birth? APGAR scores at 1 min and 5 mins Skin to skin contact? Did baby seem comfortable? ```
32
You are asked by midwife to review a baby on labour ward at 30 minutes ofage for grunting and tachypnoea. Baby is male infant born at 38 weeks gestation weighing 3.4 kg after 24 hours membrane rupture. Obs: Temperature 37.9, HR 180, RR 70, Appeared blue, Sats 76% No apnoeas or bradycardia episodes, signs of respiratory distress – intercostal / subcostal recessions, flaring of alae nasi, air entry good and equal, CRT 4 sec, no murmur, pale, lethargic. What is the differential diagnoses? And what investigations would you perform to help you to distinguish between them?
TTN: transient tachypnoea of newborn - fluid in lungs common in elective pre labour c section Sepsis: infected from prolonged membrane rupture Structural problem with heart or lungs Sepsis 6 pathway, Full blood count, Blood cultures
33
What antibiotics are given to septic newborns?
Benzylpenicillin and gentamicin
34
Which biomarker, measured antenatally is associated with failure of formation of the vertebral arches?
Serum alpha feto protein
35
Which maternal serum tests suggest an increased risk of Down's syndrome?
``` PAPP-A reduced Beta HCG raised AFP reduced uE3 reduced Inhibin A raised ```
36
What diagnostic testing is offered to mothers of high risk foetuses for Down's syndrome?
Amniocentesis or chorionic villus sampling
37
What characteristics would you see on an X-ray in a child with rickets?
Physeal widening | Metaphyseal fraying and cupping
38
Why might a child with rickets have a waddling gait?
Vitamin d deficiency causes a proximal myopathy
39
Describe post natal respiratory adaptation that occurs after a baby is born
In utero fetal lung is filled with fluid Labour, stress, catecholamines and other hormones Fluid absorbed from lungs into circulation during labour Minimal fluid removed by compression of chest wall during delivery Cold, noisy, light, touch stimuli Sensory & Chemoreceptor stimulation causes a gasp and baby cries Generates negative pressure in lungs, Lungs get inflated and aerated This leads to further fluid absorption from alveoli Establishes total lung capacity
40
Describe the foetal blood supply from placenta to babies systemic circulation
Placenta Umbilical vein to ductus venosus to IVC to Right atrium to Foramen Ovale to left atrium to left ventricle to aorta SVC to RA to RV to PA to ductus arteriosus to aorta to brain and body to umbilical arteries to placenta
41
What happens to the foetal circulation at birth?
``` Cord clamping, Increases the systemic pressure Lungs inflate, Reduces pulmonary pressure Left heart pressure increases Right heart pressure falls Blood gets oxygenated Ductus venosus closes Foramen Ovale closes Ductus Arteriosus closes ```
42
What are signs of failure of cardio-respiratory adaptation after birth?
Breathing difficulty Poor circulation Hypoxia – ischaemia
43
What are principles of resuscitating babies after birth?
Babies are small, wet and lungs are full of fluid so will have respiratory arrest rather than cardiac arrest Maintain airway (large occiput) Help with breathing: achieve lung inflation, use air initially rather than oxygen May need help with circulation Drugs rarely used
44
What is the definition of a newborn baby?
Birth to 28 days
45
What are the cut offs for low birth weight, very low birth weight and extremely low birth weight?
LBW
46
What is intrauterine growth restriction?
Baby smaller than it should be due to poor growth rates usually assessed using head and abdominal circumference
47
What are the definitions of small and large for gestational age?
SGA: B. Wt 90th percentile for baby’s gestational age, maternal diabetes
48
What should you do once baby is born?
Delay cord clamping in uncompromised term infants for 1 minute after complete delivery of baby Cut the cord Skin to skin contact
49
What is the ideal temperature for a newborn baby to be? What ways can it generate and lose heat?
Ideal temperature close to 37 Heat loss occurs by: Conduction, convection, evaporation and radiation Heat production: Hydrolysis of triglycerides in brown fat using oxygen
50
What are risk factors for a newborn finding it difficult to maintain its own temperature?
``` Large surface area for a small body mass Wet Prematurity IUGR babies Hypoxic / unwell baby Environment ```
51
What are the clinical effects of hypothermia in a newborn baby?
``` Reduced surfactant synthesis Reduced surfactant efficiency Increased oxygen requirement Increased utilisation of calorie reserves Hypoglycemia Increased postnatal weight loss ```
52
How much weight is it normal for a baby to lose after birth? How much should they then regain?
Normal to lose weight upto 5-7% of total body weight in first ten days From then on babies gain 10 to 15 g/kg/day, Roughly 1 oz per day in term babies About 200 grams/ week in first few weeks Double birth weight by 5 to 6 months
53
How many calories do term babies require? How many calories do they get from milk?
Term babies require 100kcal/kg/day | Breast milk provides 70kcal/100ml, 1.3 gm protein,4.1 gm fat,7.2 gm carbohydrates
54
What is colostrum?
First milk produced during late pregnancy/prior to giving birth Contains antibodies (IgA, IgG, IgM) and lymphocytes High protein concentration, NaCl and vit A Lower concentration of carbs, lipids and K
55
Describe the composition of breast milk
Fat: supply energy, build cell membranes, long chain polyunsaturated fatty acids, essential fatty acids help in cognitive development and improved retinal function Carbohydrates: Lactose converted to lactic acid by lacto bacillis protects gut Protein: Whey based easily absorbed, antibodies, enzymes Lactoferrin: innate immune response at mucoses
56
What are some of the benefits of breast milk?
``` Protects against respiratory/gastrointestinal infections Reduces risk of NEC in preterm babies Reduces incidence of allergy and atopy Increases cognitive development Improves bonding ```
57
When are baby checks carried out and who can perform them?
Prior to discharge and at 6 to 8weeks | Midwife, ANNP, paediatrician or GP
58
What factors in the history are important when performing a newborn baby check?
Antenatal History: mother’s medical history, pregnancy history (mum’s hand held record) Family History of Developmental Dysplasia of Hips Ethnic origin: TB risk, BCG vaccination Delivery: Breech presentation, need Hip USS Explore parental concerns, feeding
59
What are important aspects of the newborn baby examination?
Check weight, HC, length and plot on UK - WHO Growth chart Detailed head to toe examination with infant undressed Eyes: red reflex Cleft palate Heart: murmur and femoral pulses Hips
60
What is a Mongolian blue spot?
Birthmark Flat, blue-grey in colour Most common at base of spine, buttocks or lower back
61
Describe post natal respiratory adaptation that occurs after a baby is born
In utero fetal lung is filled with fluid Labour, stress, catecholamines and other hormones Fluid absorbed from lungs into circulation during labour Minimal fluid removed by compression of chest wall during delivery Cold, noisy, light, touch stimuli Sensory & Chemoreceptor stimulation causes a gasp and baby cries Generates negative pressure in lungs, Lungs get inflated and aerated This leads to further fluid absorption from alveoli Establishes total lung capacity
62
Describe the foetal blood supply from placenta to babies systemic circulation
Placenta Umbilical vein to ductus venosus to IVC to Right atrium to Foramen Ovale to left atrium to left ventricle to aorta SVC to RA to RV to PA to ductus arteriosus to aorta to brain and body to umbilical arteries to placenta
63
What happens to the foetal circulation at birth?
``` Cord clamping, Increases the systemic pressure Lungs inflate, Reduces pulmonary pressure Left heart pressure increases Right heart pressure falls Blood gets oxygenated Ductus venosus closes Foramen Ovale closes Ductus Arteriosus closes ```
64
What are signs of failure of cardio-respiratory adaptation after birth?
Breathing difficulty Poor circulation Hypoxia – ischaemia
65
What are principles of resuscitating babies after birth?
Babies are small, wet and lungs are full of fluid so will have respiratory arrest rather than cardiac arrest Maintain airway (large occiput) Help with breathing: achieve lung inflation, use air initially rather than oxygen May need help with circulation Drugs rarely used
66
What is the definition of a newborn baby?
Birth to 28 days
67
What are the cut offs for low birth weight, very low birth weight and extremely low birth weight?
LBW
68
What is intrauterine growth restriction?
Baby smaller than it should be due to poor growth rates usually assessed using head and abdominal circumference
69
What are the definitions of small and large for gestational age?
SGA: B. Wt 90th percentile for baby’s gestational age, maternal diabetes
70
What should you do once baby is born?
Delay cord clamping in uncompromised term infants for 1 minute after complete delivery of baby Cut the cord Skin to skin contact
71
What is the ideal temperature for a newborn baby to be? What ways can it generate and lose heat?
Ideal temperature close to 37 Heat loss occurs by: Conduction, convection, evaporation and radiation Heat production: Hydrolysis of triglycerides in brown fat using oxygen
72
What are risk factors for a newborn finding it difficult to maintain its own temperature?
``` Large surface area for a small body mass Wet Prematurity IUGR babies Hypoxic / unwell baby Environment ```
73
What are the clinical effects of hypothermia in a newborn baby?
``` Reduced surfactant synthesis Reduced surfactant efficiency Increased oxygen requirement Increased utilisation of calorie reserves Hypoglycemia Increased postnatal weight loss ```
74
How much weight is it normal for a baby to lose after birth? How much should they then regain?
Normal to lose weight upto 5-7% of total body weight in first ten days From then on babies gain 10 to 15 g/kg/day, Roughly 1 oz per day in term babies About 200 grams/ week in first few weeks Double birth weight by 5 to 6 months
75
How many calories do term babies require? How many calories do they get from milk?
Term babies require 100kcal/kg/day | Breast milk provides 70kcal/100ml, 1.3 gm protein,4.1 gm fat,7.2 gm carbohydrates
76
What is colostrum?
First milk produced during late pregnancy/prior to giving birth Contains antibodies (IgA, IgG, IgM) and lymphocytes High protein concentration, NaCl and vit A Lower concentration of carbs, lipids and K
77
Describe the composition of breast milk
Fat: supply energy, build cell membranes, long chain polyunsaturated fatty acids, essential fatty acids help in cognitive development and improved retinal function Carbohydrates: Lactose converted to lactic acid by lacto bacillis protects gut Protein: Whey based easily absorbed, antibodies, enzymes Lactoferrin: innate immune response at mucoses
78
What are some of the benefits of breast milk?
``` Protects against respiratory/gastrointestinal infections Reduces risk of NEC in preterm babies Reduces incidence of allergy and atopy Increases cognitive development Improves bonding ```
79
When are baby checks carried out and who can perform them?
Prior to discharge and at 6 to 8weeks | Midwife, ANNP, paediatrician or GP
80
What factors in the history are important when performing a newborn baby check?
Antenatal History: mother’s medical history, pregnancy history (mum’s hand held record) Family History of Developmental Dysplasia of Hips Ethnic origin: TB risk, BCG vaccination Delivery: Breech presentation, need Hip USS Explore parental concerns, feeding
81
What are important aspects of the newborn baby examination?
Check weight, HC, length and plot on UK - WHO Growth chart Detailed head to toe examination with infant undressed Eyes: red reflex Cleft palate Heart: murmur and femoral pulses Hips
82
What is a Mongolian blue spot?
Birthmark Flat, blue-grey in colour Most common at base of spine, buttocks or lower back
83
What does WHO recommend in terms of breast feeding duration?
6 months exclusive breast feeding with gradual introduction of solid foods after this point
84
Are mothers who are HIV positive who have HIV negative babies able to breast feed?
Yes, provided they have satisfactory anti retroviral therapy
85
What is klinefelters syndrome?
``` Karyotype XXY Hypergonadotrophic hypogonadism (elevated LH and FSH) Tall stature, hypogonadal appearance, reduced IQ ```
86
What is fragile X syndrome?
Notch in the arm of the X chromosome | Large testes, big ears and low IQ
87
What is klinefelters syndrome?
``` Karyotype XXY Hypergonadotrophic hypogonadism (elevated LH and FSH) Tall stature, hypogonadal appearance, reduced IQ ```
88
What is fragile X syndrome?
Notch in the arm of the X chromosome | Large testes, big ears and low IQ
89
Which 3 cardiac defects are most commonly present in Down syndrome babies?
AV septal defect Ventricular septal defect Patent ductus arteriosus
90
What characteristics would a child born with achondroplasia have?
``` Short arms and legs Genu varum Fingers and toes all the same length Lumbar lordosis Normal intellect and life expectancy Membranous bone growth normal so normal size heads and trunks ```
91
What is the method of inheritance of achondroplasia?
Autosomal dominant
92
A 15 year old male presents to his GP complaining of having breasts. On examination he is tall and slim, has bilateral gynaecomastia and poor pubertal development. What is the likely karyotype?
47 XXY | Kleinfelters syndrome
93
What signs and symptoms might a baby born with turners syndrome have?
Lymphoedema of hands and feet Webbed neck Coarctation of the aorta
94
What is legg calve perthes disease?
Idiopathic osteonecrosis of the femoral head Common in boys 5-11 years Pain on all hip movements, difficulty weight bearing, limp Irregularity of femoral head seen on imaging
95
What is SUFE?
Slipped upper femoral epiphysis Occur in teenagers MRI show fracture through growth plate with displaced femoral head
96
How many vomits in 24 hours is a red flag for a child?
More than 6
97
What questions are important in previous medical history for a child?
``` Antenatal history Birth history / scbu admission Growth and development - milestones Immunisations Previous admissions/operations Allergies ```
98
What is a serious complication of measles?
Subacute sclerosing panencephalitis
99
What vaccines should a child have at 2 months?
DTaP: diphtheria, tetanus, acellular pertussis / IPV: inactivated polio vaccine / Hib: haemophilus influenzae type b PCV: pneumococcal conjugate vaccine Rotavirus oral
100
What vaccines should a child have at 3 months?
DTaP: Diptheria, tetanus, pertussis / IPV: inactivated polio vaccine / Hib: haemophilus influenzae type b MenC Rotavirus oral
101
What vaccines should a child have at 4 months?
DTaP / IPV / Hib | PCV
102
What vaccines should a child have at 12-13 months?
Hib / MenC PCV MMR
103
What vaccines should a child have at 40 months?
DTaP/ IPV | MMR
104
What should a child be doing by 6 months of development?
``` Turns head to side when called Smiles back Responds to sound with sound Sits without support for short time Likes social play - peek a boo ```
105
What should a child be doing by 12 months of development?
``` Simple gestures - shaking head or waving bye bye Pulls up to stand Copies you during play Responds when told no Says mama dada ```
106
What should a child be doing by 18 months?
``` Plays pretend - talking on toy phone Points to interesting things Several singe words Walks without help Looks at something when you point to it ```
107
What should a child be doing by 2 years of development?
``` 2-4 word phrases Shows more interest in other children Follow simple instructions Kicks a ball Points to something when you name it ```
108
What should a child be doing by 3 years of development?
``` Shows affection for playmates Uses 4-5 word sentences Copies adults and playmates Climbs well Plays make believe with dolls, animals and people ```
109
What should children be doing by 4 years of development?
``` Follows 3 step commands Hops and can stand on one foot for 5 seconds Uses 5-6 word sentences Shares and takes turns Draws circles and squares ```
110
What is important in a paediatric social history?
``` Who has parental responsibility Who is at home School or nursery progress/problems Social services contact Housing situation Anyone smoke in the home Parental occupations ```
111
What are the 4 types of child abuse?
Physical Sexual Emotional Neglect
112
What signs might make you worry that a child is suffering physical abuse?
Timing of presentation - late Story consistent with injury - is this child mobile? Changing story Red flag injuries - linear bruises, dip line, cigarette burns, torn frenulum Signs in the child - frozen watchfulness
113
What might be signs of neglect that you should look for in a child?
``` Inappropriate clothing for weather Shoes too small Poor hygiene Height and weight Unmet medical need - nappy rash, eczema, head lice, ringworm, scabies ```
114
What neonatal reflexes are there?
``` Babinski - 9m - 1y Blinking - permanent Grasping - 3m - 1y Moro - 3-4m Rooting - 3-4m Stepping - 3-4m Sucking - 3-4m ```
115
What is a normal heart rate for a newborn?
100-170
116
What's a normal respiratory rate for a newborn?
40-60
117
What's a normal systolic blood pressure for a newborn?
50
118
What is an innocent heart mumur in a child?
Soft, ejection systolic, left lower eternal edge with normal heart sounds
119
What are sinister heart murmurs in a child?
Loud: grade 3 or above, harsh Pansystolic or diastolic Abnormal heart sounds or added sounds
120
What is a Harrison's sulci?
Horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm; It is usually caused by chronic asthma or obstructive respiratory disease
121
What are signs of an unwell child?
``` Respiratory distress: tachypnoea, recession Audible wheeze or stridor Facial swelling Cyanosis Mottling / poor cap refill Decreased consciousness Non blanching rash ```
122
What are the 4 domains of early development?
Gross and fine motor Speech and language Social and personal Cognition
123
What gross motor development should a child go through in their first year?
``` 2 months support their head 5 months roll over 6 months sit supported 9 months stand supported 10 months crawl 11 months stand unsupported ```
124
What role does the environment play in a child's development?
Requires opportunity to practice | Delay can be caused by poverty of stimulation
125
When does a developmental delay become worrying?
2 standard deviations from the mean
126
What are milestones of fine motor development?
``` Grasping 4 months Reaching and whole hand grasp 5 months Transfer hand to hand 6 months Finger feed 7 months Pincer grip 9 months Points at bead 10 months Mature pincer 12 months ```
127
What are milestones for speech and language development?
``` Cooing 6 months Basic sounds 9 months Mama dada 12 months Understand simple questions 18 months 2 word combos 24 months ```
128
What are milestones for social development?
``` Exogenous smile 2 months Stranger anxiety 6 months Peek a boo 9 months Separation anxiety 1 year Selfish 2 years Group play, taking turns 3 years ```
129
What effects does cerebral palsy have on development?
Motor domains primary problem Abnormal tone - initially low then spasticity develops Cognitive, oromotor, sensory problems Hemiplegia - hand preference at
130
What developmental problems does autistic spectrum disorder cause?
``` Paucity of speech Frequent repetition of words No response to name Reject cuddles Prefer to play alone Avoid eye contact Repetitive movements - hand flapping Repetitive unimaginative play Upset at change to normal routine ```
131
What are some developmental red flags?
Can't sit unsupported by 12 months Can't walk by 18 months (m) or 2 years (f) Can't walk other than on tiptoes Can't run by 2.5 years Can't hold object placed in hand by 5 months Can't reach for objects by 6 months Can't point at objects to share interest with others by 2 years
132
How do you manage developmental delay?
Detailed assessment Investigate cause Is there a reversible cause - talipes slower to walk, erbs palsy slower to roll, hearing problems slow to speak Agencies that can help - SALT, physio, OT, social services, school, ophthalmology, audiology, dietician
133
A previously well 9 year old boy presents to GP with a limp of recent onset. His right leg is tender on all movements of the hip. Blood tests are normal. MRI shows an irregular femoral head. What is the most likely underlying diagnosis?
Legg calve perthes disease | Idiopathic osteonecrosis of the femoral head
134
In what age of child is legg calve perthes disease common?
Boys aged 5-11
135
A previously well 9 year old boy presents to GP with a limp of recent onset. His right leg is tender on all movements of the hip. Blood tests are normal. MRI shows an irregular femoral head. What is the most likely underlying diagnosis?
Legg calve perthes disease | Idiopathic osteonecrosis of the femoral head
136
In what age of child is legg calve perthes disease common?
Boys aged 5-11
137
A 40 year old female gives birth to a baby girl. On examination it is noted that the neonate has hypotonia, small low set eyes and a single palmar crease. What is the likely karyotype?
47 XX+21 | Down's syndrome
138
A 17 year old female presents with primary amenorrhoea. On examination she is tall, thin and has absent pubic and axillary hair with very little breast development. She has normal appearance of external genitalia. What the likely karyotype and abnormality?
46XY | Androgen insensitivity syndrome
139
An 8 year old girl is brought to the GP by her mother. The mother is worried as a teacher was concerned that the daughter has immature behaviour and is not performing academically. On examination the girl is tall and has poor coordination. What is the likely karyotype?
47XXX | Triple X syndrome
140
Name some conditions which are inherited in an autosomal dominant pattern
``` Adult polycystic kidney disease Multiple endocrine neoplasia 1 Huntingtons chorea Myotonic dystrophy Neurofibromatosis Polyposis coli ```
141
An 8 year old boy with a wide nasal bridge, large tongue, clinodactyly and a hx of duodenal atresia attends paediatric outpatient clinic. Which malignancy is the child at increased risk of?
Acute leukaemias
142
What are risk factors for developmental dysplasia of the hip?
``` FH Breech presentation Oligohydramnios Large for gestational age Multiple pregnancy Prematurity ```
143
What are risk factors for sudden infant death syndrome?
``` Smoking Baby sleeping on back Sleeping in bed with baby Overheating Not breast feeding Low birth weight/prematurity Age 1-3 months Alcohol/substance use Low SES Duvets/pillows ```