Paediatrics - neonatology, development and genetics Flashcards
1
Q
what cells produce surfactant
A
type II alveolar cells
2
Q
what is the function of surfactant
A
to reduce the surface tension of the fluid in the lungs, and keeping alveoli inflated and maximising the surface area of the alveoli
- increases lung compliance
3
Q
at what age do babies start to produce surfactant
A
between 24-34 weeks of gestation
4
Q
what are required to maintain the ductus arteriosus
A
prostaglandins
5
Q
what are issues surrounding neonatal resuscitations
A
- babies have a large surface area to weight ratio and get cold easily
- babies are born wet so loose heat rapidly
- babies are born through meconium which may enter their mouth and airway
6
Q
what are the principles of neonatal resuscitation
A
- Need to warm the baby
- calculate the APGAR score
- stimulate breathing
- Inflation breaths
- chest compressions
- severe situations
7
Q
what can you do to keep a new baby warm
A
- get the baby dry as quickly as possible, vigorous drying also helps stimulate breathing
- keep baby warm with warm delivery rooms and a heat lamp
- babies under 28 weeks are placed in a plastic bag while wet and managed under a heat lamp
8
Q
how can you stimulate breathing in a new baby
A
- stimulate the baby to prompt breathing, like vigorous rubbing with a towel
- place babies head in a neutral position to keep the airway open
- if gasping or unable to breath check for obstruction and consider aspiration
9
Q
when are inflation breaths required in a new baby
A
when the neonate is gasping or not breathing despite adequate initial stimulation
10
Q
how do you give inflation breaths in a neonate
A
two cycles of five inflation breaths (3 seconds each) to stimulate breathing and heart rate
if no response then 30 seconds of ventilation breaths
if still no response then chest compressions are used
11
Q
what should be used for inflation breaths in
a. term babies
b. pre-term babies
A
a. air
b. air and oxygen
12
Q
when do you start chest compressions in a neonate
A
if the heart rate remains below 60bpm despite resuscitation and inflations breaths
13
Q
what ratio are chest compressions performed at with ventilation breaths
A
3:1
14
Q
what is a baby at risk of with prolonged hypoxia
A
hypoxic-ischaemic encephalopathy
15
Q
what are the different things measured in the APGAR score
A
Appearance - skin colour
Pulse
Grimmace - response to stimulation
Activity - muscle tone
Respiration
16
Q
what is the APGAR score used for
A
used as an indicator of the progress over the first five minutes of life
17
Q
what is placental transfusion
A
this is delayed cord clamping
18
Q
what are the benefits of delayed cord clamping
A
improved haemoglobin, iron stores and blood pressure
reduction in interventricular haemorrhage and necrotising enterocolitis
19
Q
what are the current guidelines from the resuscitation council UK on delayed cord clamping
A
uncompromised neonates should have a delay of at least one minute in the clamping of the umbilical cord following birth
20
Q
what is considered a slow hear rate in a newborn
A
between 60-100 bpm
21
Q
how do you deliver chest compressions in a newborn
A
three compressions to one ventilation
30 inflations and 90 compressions per minute
22
Q
what temperature should newborns be maintained between
A
36.5-37.5
23
Q
what are the important steps to do immediately after birth of a baby
A
skin to skin
delayed cord clamping
dry the baby
keep baby warm with hats and blankets
vitamin K
label the baby
measure weight and length
24
Q
why is it important to give vitamin K after birth
A
babies are born with a deficiency of vitamin K. As it is required for normal clotting of blood vitamin K is given to all babies via IM injection as standard practice
- Can also give it orally as drops but takes longer to act and requires three doses
25
what are the benefits of skin to skin contact
helps warm baby
improves mother and baby interaction
calms the baby
improves breast feeding
26
what are the nine conditions screened for in the blood spot screening test
sickle cell disease
cystic fibrosis
congenital hypothyroidism
phenylketonuria
medium chain acyl coA dehydrogenase deficiency
maple syrup urine disease
isovaleric acidaemia
glutaric aciduria type 1
homocystin
27
when is the blood spot screening test taken
on day 5
28
when is the newborn examination performed
first 72 hours after birth
repeated 6-8 weeks by their GP
29
what are questions that should be asked before starting the newborn examination
has the baby passed meconium
is the baby feeding okay
is their any family history of congenital heart, eye or hip problems
have the parents noticed any issues
30
what oxygen saturations need to be checked in a baby
pre-ductal and post-ductal oxygen saturations
- should not be more than a 2% difference between the two
- pre-ductal measured in babies right hand
- post-ductal measured in either foot
31
what is measured with a babies general appearance in the newborn baby check
colour
tone
cry
32
how is the head examined in the newborn baby check
1. general appearance
2. head circumference
3. anterior and posterior fontanelles
4. sutures
5. ears - skin tags, low set ears, asymmetry
6. eyes - slight squints are normal, epicanthic folds, purulent discharge
7. red reflex - absent with cataracts and retinoblastoma
8. mouth - cleft lip or tongue tie
9. sucking reflex and palate
33
how are the shoulders and arms examined in the newborn baby check
1. shoulder symmetry
2. arm movements
3. brachial pulses
4. radial pulses
5. palmar creases
6. digits
7. sats probe on right wrist for pre-ductal reading
34
how is the chest examined in the newborn baby check
1. oxygen saturations in right wrist and feet
2. observe breathing and look for signs of respiratory distress
3. heart sounds - murmurs, heart sounds, heart rate
4. breath sounds
35
how is the abdomen examined in the newborn baby check
1. observe the shape
2. umbilical stump - look for discharge, infection and periumbical hernia
3. palpate for organomegaly, hernias or masses
36
how are the genitals examined in the newborn baby check
1. observe the sex, ambiguity and abnormalities
2. palpate the testes and scrotum
3. inspect the penis for hypospadias, epispadias and urination
4. inspect the anus to check if patent
5. ask about meconium
37
how are the legs examined in the newborn baby check
1. observe the legs and hips for equal movements, skin creases, tone and talipes
2. Barlow's and Ortolani maneuvers - check for clunking, clicking and dislocation
3. count the toes
38
how is the back inspected in the newborn baby check
1. inspect and palpate the spine - curvature, spina bifida and pilonidal sinus
39
what reflexes are testes in the newborn baby check
1. Moro reflex: when rapidly tipped backward arms and legs will extend
2. suckling reflex
3. rooting reflex: tickling the cheek will cause them to turn towards the stimulus
4. grasp reflex
5. stepping reflex
40
what skin findings are you looking out for in the newborn baby check
haemangiomas
port wine stains
mongolian blue spot
cradle cap
desquamation
erythema toxicum
milia
acne
naevus simplex
moles
transient pustular melanosis
41
what are talipes
clubfoot - where the ankles are in a supinated position and rolled inwards
42
what are the two types of talipes
structural - bones of foot and ankle involved and requires surgery referral
positional - muscles slightly tight around ankle but bones unaffected
43
what are port wine stains
pink patches of skin often on the face which is caused by abnormalities affecting the capillaries
dont fade with time and will often get darker
can be related to Sturge-Weber syndrome
44
what is caput succedaneum
involves fluid collecting on the scalp, outside the periosteum
45
what causes caput succedaneum
pressure to a specific area of the scalp during traumatic, prolonged or instrumental delivery
46
What is cephalohaematoma
it is a collection of blood between the skull and the periosteum
47
what are causes of cephalohaematoma
it is caused by damage to blood vessels during a traumatic, prolonged or instrumental delivery
48
how can you tell the difference between cephalohaematoma and caput succedaneum
cephalohaematoma doesnt cross the suture lines of the skull where as caput succedaneum does
49
what does a baby with caphalohaematoma need to be monitored for
anaemia, jaundice and resolution of the haematoma
50
what is erbs palsy
it is a result of C5/6 injury in the brachial plexus during birth
51
what is erbs palsy associated with
associated with shoulder dystocia, traumatic or instrumental delivery and large birth weight
52
what are the symptoms of erbs palsy
weakness of shoulder abduction
weakness of external rotation
weakness of arm flexion
weakness of finger extension
53
what is the appearance of an arm with erbs palsy
'waiters tip'
- internally rotated shoulder
- extended elbow
- flexed wrist facing backwards
- lack of movement in the affected arm
54
why might a clavicle be fractured during birth
may be associated with shoulder dystocia, traumatic or instrumental delivery or large birth weight
55
how might a broken clavicle be picked up on the newborn baby exam
noticeable lack of movement or asymmetry of movement in the affected arm
asymmetry of the shoulders with the affected shoulder being lower than the normal one
pain and distress on movement of the arm
56
what are common organisms that cause neonatal sepsis
Group B streptococcus
E.coli
listeria
klebsiella
staph. aureus
57
what are risk factors for developing neonatal sepsis
vaginal GBS colonisation
GBS sepsis in a previous baby
maternal sepsis, chorioamnionitis or fever over 38
prematurity
early (premature) rupture of membranes
prolonged rupture of membranes
58
what are clinical features of neonatal sepsis
fever
reduced tone and activity
poor feeding
respiratory distress or apnoea
vomiting
tachycardia or bradycardia
hypoxia
jaundice within 24 hours
seizures
hypoglycaemia
59
what are red flags of neonatal sepsis
confirmed or suspected sepsis in the mother
signs of shock
seizures
term baby needing mechanical ventilation
respiratory distress starting more than 4 hours after birth
resumed sepsis in another baby in multiple pregnancy
60
how do you treat presumed sepsis
- if one risk factor or clinical feature then monitor the obs and condition for >12 hours
- if two or more risk factors start antibiotics
- antibiotics should be given if there is a single red flag
- antibiotics need to be given within 1hr of deciding to give them
- blood cultures should be taken before antibiotics are given
- check baseline FBC and CRP
-perform LP if meningitis suspected
61
what do nice recommend as first line antibiotics in presumed sepsis
benzylpenicillin and gentamycin
alternatively given third generation cephalosporin (cefotaxime) may be given as an alternative in lower risk babies
62
when would you consider stopping antibiotics in a previously septic baby
when the baby is clinically well, the blood cultures are negative 36 hours after taking them and both CRP results are negative
63
what is Hypoxic-ischaemic encephalopathy
lack of oxygen and restriction of blood flow to the brain causing brain malfunctioning
- in neonates as a result of hypoxia at birth
64
what can Hypoxic-ischaemic encephalopathy lead to
permanent brain damage causing cerebral palsy
severe HIE can result in death
65
when do you suspect Hypoxic-ischaemic encephalopathy in neonates
hypoxia during the perinatal or intrapartum period
acidosis on the umbilical artery blood gas
poor APGAR scores
features of mild/moderate/severe HIE
multi-organ failure
66
what are causes of Hypoxic-ischaemic encephalopathy
anything that leads to asphyxia
- maternal shock
- intrapartum haemorrhage
- prolapsed cord
- nuchal cord: where cord is wrapped round neck of the baby
67
what is are the features of mild Hypoxic-ischaemic encephalopathy
- poor feeding, general irritability and hyper alert
- resolves within 24 hours
- normal prognosis
68
what are the features of moderate Hypoxic-ischaemic encephalopathy
- poor feeding, lethargic, hypotonic, seizures
- can take up to weeks to resolve
- up to 40% develop cerebral palsy
69
what are features of severe Hypoxic-ischaemic encephalopathy
- reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
- up to 50% mortality
- up to 90% develop cerebral palsy
70
how is Hypoxic-ischaemic encephalopathy managed
supportive care with neonatal resuscitation and ventilation, circulatory support, nutrition, acid base balance and treatment of seizures
therapeutic hypothermia
71
what is therapeutic hypothermia
babies near or at term considered to have Hypoxic-ischaemic encephalopathy benefit from therapeutic hypothermia
- baby is actively cooled to between 33-34
- continue for 72 hours
- then baby is gradually warmed to normal temperature over 6 hours
72
what is the intention of therapeutic hypothermia
to reduce inflammation and neurone loss after hypoxic injury
- reduces the risk of cerebral palsy, developmental delay, learning difficulties, blindness and death
73
what causes jaundice
high levels of bilirubin in the blood
74
what are the two ways conjugated bilirubin is excreted
via the biliary system into GI tract
urine
75
what is physiological jaundice
fetal red blood cells break down more rapidly than normal RBC releasing lots of bilirubin
normally this is excreted via the placenta however after birth this is no longer available
this leads to a normal rise in bilirubin after birth, it normally resolves completely by 10 days old
76
what are symptoms of physiological jaundice
mild yellowing of the skin and sclera from 2-7 days
otherwise normal healthy baby
77
what are causes of neonatal jaundice
increased production: haemolytic disease of the newborn, ABO incompatibility, haemorrhage, intraventricular haemorrhage, cephalo-oedema, polycythaemia, sepsis and DIC. G6PD deficiency
decreased clearance of bilirubin: prematurity, breast milk jaundice, neonatal cholestasis, biliary atresia, endocrine disorders (thyroid/pituitary) and gilbert syndrome
78
is jaundice in the first 24 hours of life normal?
no it is pathological - needs urgent investigations and managed (think sepsis)
79
why might premature babies get jaundice
due to the immature liver - the process of physiological jaundice is exaggerated
80
what is Kernicterus
brain damage due to high bilirubin levels
81
who are more likely to get jaundice, those who are bottle fed or breastfed
those who are breastfed
82
why are breastfed babies more likely to get neonatal jaundice
1. components of breast milk inhibit the ability of the liver to process the bilirubin
2. breastfed babies are more likely to become dehydrated if not feeding adequately
3. inadequate breast feeding may lead to slow passage of stools, increasing absorption of bilirubin in the intestines
83
what is haemolytic disease of the newborn
it is caused by incompatibility between the rhesus antigens on the surface of the red blood cells of the mother and the fetus
84
when might haemolytic disease of the newborn occur
when a woman is rhesus negative and her baby is rhesus negative
- mother becomes sensitised to the resus D antigens and will normally cause issues in the second + pregnancy
85
what happens in haemolytic disease of the newborn
the mothers anti-D antibodies can cross the placenta into the fetus, and if that fetus is rhesus positive this can cause the immune system of the fetus to attack their own cells
this leads to haemolysis, anaemia and high bilirubin levels
86
when is jaundice considered prolonged
more than 14 days in full term babies
more than 21 days in premature babies
87
what can cause prolonged jaundice
biliary atresia
hypothyroidism
G6PD deficiency
88
what investigations should be done in neonatal jaundice
FBC and blood film - polycythaemia or anaemia
conjugated and unconjugated bilirubin
blood type testing
direct coombs test for haemolysis
thyroid function
blood and urine cultures if infection suspected
G6DP levels
89
what is the management for neonatal jaundice
- monitor total bilirubin levels and plot on treatment threshold charts
- if total bilirubin reaches threshold then they will be commenced on treatment
- phototherapy
- exchange transfusion
90
what is phototherapy
phototherapy converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation
91
how is phototherapy performed
- remove clothing down to nappy and eye patches to protect eyes
- baby is put into a light box which shines blue light onto the babies skin
- bilirubin is monitored during treatment
- once phototherapy is complete rebound bilirubin should be measured 12-18 hours after stopping to ensure levels dont rise again
92
how does kernicterus present
less responsive, floppy, drowsy baby with poor feeding
93
what is the long term issues with kernicterus
the damage to the nervous system is permanent
- cerebral palsy
- learning difficulties
- deafness
94
what is prematurity defined as
birth before 37 weeks gestation
95
what number of weeks are classified as
1. extreme preterm
2. very preterm
3. moderate to late preterm
1. under 28 weeks
2. 28-32 weeks
3. 32-37 weeks
96
what can increase the chance of preterm birth
social deprivation
smoking
alcohol
drugs
overweight or underweight mothers
maternal co-morbidities
twins
personal or family history of prematurity
97
in women with a history of preterm birth or an ultrasound demonstrating reduced cervical length, how can you try to delay birth
1. prophylactic vaginal progesterone
2. prophylactic cervical cerclage - suture in the cervix to hold it closed
98
where preterm labour is suspected or confirmed how can the outcomes be improved
1. tocolysis with nifedipine: calcium channel blocker that suppresses labour
2. maternal corticosteroids
3. IV magnesium sulphate
4. delayed cord clamping or cord milking
99
what issues might a preterm baby have in early life
respiratory distress syndrome
hypothermia
hypoglycaemia
poor feeding
apnoea and bradycardia
neonatal jaundice
intraventricular haemorrhage
retinopathy of prematurity
necrotising enterocolitis
immature immune system and infection
100
what are long term effects of prematurity
chronic lung disease of prematurity
learning and behavioural difficulties
susceptibility to infections, particularly RTI
hearing and visual impairment
cerebral palsy
101
what is apnoea of prematurity
periods where breathing stops spontaneously for more than 20 seconds with oxygen desaturations or bradycardia
102
what are causes of apnoea of prematurity
- immaturity of the autonomic nervous system
- infection
- anaemia
- airway obstruction
- CNS pathology such as seizures or haemorrhage
- GORD
- neonatal abstinence syndrome
103
how is apnoea of prematurity managed
- attached to apnoea monitors which make a sound when apnoea is occuring
- tactile stimulation is used to prompt baby to restart breathing
- IV caffeine can be used to prevent apnoea and bradycardia in babies with recurrent episodes
104
what is respiratory distress syndrome
it affects premature neonates, born before the lungs start to produce adequate surfactant
105
what is seen on chest Xray in respiratory distress syndrome
ground glass appearance
106
what is the pathophysiology of respiratory distress syndrome
- inadequate surfactant leads to high surface tension within alveoli
- this leads to lung collapse (atelectasis) and it is more difficult for alveoli to expand
- this leads to inadequate gaseous exchange resulting in hypoxia, hypercapnia and respiratory distress
107
what is the management of respiratory distress syndrome
1. antenatal steroids given to mothers with suspected or confirmed preterm labour
2. intubation and ventilation to assist breathing
3. endotracheal surfactant which is an artificial surfactant delivered into the lungs via an endotracheal tube
4. continuous positive airway pressure to keep lungs inflated while breathing
5. supplementary oxygen to maintain between 91-95% in neonates
108
what are short term complications of respiratory distress syndrome
pneumothorax
infection
apnoea
intraventricular haemorrhage
pulmonary haemorrhage
necrotising enterocolitis
109
what are long term complications of respiratory distress syndrome
chronic lung disease of prematurity
retinopathy of prematurity
neurological, hearing and visual impairment
110
what is necrotising enterocolitis
disorder affecting premature neonates where part of the bowel becomes necrotic. This can lead to perforation, peritonitis and shock
111
what are risk factors for developing NEC
very low birth weight or very premature
formula feeds
respiratory distress and assisted ventilation
sepsis
patient ductus arteriosus and other congenital heart disease
112
how doe necrotising enterocolitis present
intolerance to feeds
vomiting, particularly with green bile
generally unwell
distended tender abdomen
absent bowel sounds
blood in stool
113
what investigations should be done in suspected necrotising enterocolitis
bloods - FBC, CRP, capillary blood gas, blood culture
Abdominal X-ray
114
what can x ray show in necrotising enterocolitis
dilated loops of bowel
bowel wall oedema
pneumatosis intestinalis - gas in the bowel
pneumoperitoneum
gas in the portal veins
115
what is pneumoperitoneum
it is free gas in the peritoneal cavity and indicated perforation
116
how is necrotising enterocolitis managed
1. Nil by mouth
2. IV fluids
3. total parenteral nutrition
4. antibiotics
5. NG tube can be inserted to drain fluid and gas from the stomach and intestines
6. immediate referral to the neonatal surgical team
117
what surgical interventions may be done for necrotising enterocolitis
removal of the dead bowel tissue
may be left with temporary stoma
118
what are complications of necrotising enterocolitis
perforation and peritonitis
sepsis
death
abscess formation
strictures
recurrence
long term stoma
short bowel syndrome after surgery
119
what is bronchopulmonary dysplasia
it is a form of chronic lung disease affecting newborns, most often those premature.
the bronchi are damaged causing tissue destruction in the alveoli
120
are babies born with bronchopulmonary dysplasia
no the condition results from damage to the lungs usually caused by mechanical ventilation and long term use of oxygen
121
what can cause bronchopulmonary dysplasia
can occur when newborns lungs are underdeveloped at birth, requiring the use of a ventilator or oxygen therapy. because their lungs are vulnerable high amounts of inhaled oxygen and pressure may overstretch the alveoli causing inflammation and damage to the inner lining of the airways, alveoli and blood vessels surrounding them
122
what conditions are linked with the development of bronchopulmonary dysplasia
respiratory distress syndrome
patent ductus arteriosus
123
what are the symptoms of bronchopulmonary dysplasia
rapid breathing
laboured breathing
wheezing
need for continuous oxygen after 36 weeks
difficulty feeding
repeated lung infections
124
how does bronchopulmonary dysplasia affect a babies health long term
trouble feeding
GORD
pulmonary hypertension
delayed speech
learning difficulties
heard defects
infections
125
how is bronchopulmonary dysplasia diagnosed
clinical evaluation, degree of prematurity and the need for oxygen after certain ages
126
how is bronchopulmonary dysplasia treated
no specific cure but treatment focuses on minimising further lung damage and providing support to the newborns lungs to heal and grow
- diuretics to decrease fluid in lungs
- bronchodilators
- corticosteroids
- viral immunisation
- cardiac medications
more severe cases may need oxygen for several months such as BiPAP
127
when do symptoms of bronchopulmonary dysplasia usually subside
by the age of 2-3 and treatment usually ends by 5 years of age
128
what is meconium aspiration syndrome
respiratory distress in neonates born through meconium stained liquor
129
what are risk factors are there for developing meconium aspiration syndrome
being born through meconium stained liquor which increases with postdates gestation and small for gestational age
130
what are clinical features of meconium aspiration syndrome
meconium stained liquor
respiratory distress at or shortly after birth
chest x ray showing hyperinflation, patchy opacification and consolidation
increased oxygen requirements
131
how can meconium affect the respiratory system
respiratory distress: damaging affect on surfactant and its metabolism resulting in reduced surfactant
pneumonitis: irritation and inflammation
bacterial pneumonia: e.coli
pneumothorax
132
what are differential diagnosis for meconium aspiration syndrome
other causes of respiratory distress in newborn
- transient tachypnoea of the newborn
- delayed transition from foetal circulation
- sepsis
- congenital pneumonia
- persistent pulmonary hypertension of the newborn
- pneumothorax
- hypovolaemia
133
what investigations are done for meconium aspiration syndrome
pre and post ductal saturations to assess respiratory involvement
capillary gas or venous gas
bloods: FBC, CRP, cultures
imaging: CXR
134
what is preventative management for meconium aspiration syndrome
prevention of fetal hypoxia and prevention of postdates gestation
can have oropharyngeal suctioning if there is meconium obstructing the airway
135
what is management of meconium aspiration syndrome post delivery
asymptomatic infants with APGAR>9 don require additional monitoring
infants with resp distress after birth should be admitted to the neonatal unit for 4-6 hours
management is supportive
- oxygen therapy where needed
- assisted ventilation if required
- some infants may need sedation and surfactant therapy
- antibiotic prophylaxis
136
what are complications of meconium aspiration syndrome
short term: ongoing oxygen requirements, seizures, necrotising enterocolitis
increased incidence of reactive airway disease
137
what is a TORCH infection
an infection of the developing foetus or newborn that can occur in utero, during delivery or after birth:
- Toxoplasma gondii
- Other agents: treponema pallidum, VZV, parvovirus 19, HIV
- Rubella
- CMV
- HSV
138
what are complications of TORCH infections
preterm birth
delayed development of the foetus - intrauterine growth restriction
physical malformations - deafness, patent ductus arteriosus
loss of pregnancy
139
how are TORCH infections transmitted
in utero: mother can transmit infection to fetus through the placenta
during childbirth: while passing through birth canal
after birth: pass infection via breast milk
140
how is toxoplasma gondii transmitted
consumption of undercooked meats or exposure to cat faeces
141
how can toxoplasma gondii present in a foetus or infent
inflammation of the choroid and retina
hydrocephalus
rash
intracranial calcifications
142
how is rubella transmitted
direct contact with infected saliva, mucus or air droplets
143
what can rubella cause in a foetus
congenital rubella syndrome
- deafness
- cataracts
- rash
- heart defects
144
how is CMV transmitted
direct contact with infected bodily fluids such as saliva, tears, mucus, semen and vaginal fluid
145
how can CMV infection present in a foetus
rashes
deafness
inflammation of the eye
seizures
microcephaly
intercranial calcifications
146
how is HSV transmitted
HSV-1: oral secretions: kissing, sharing utensils, sharing drinks
HSV-2: sexually transmitted disease
147
how can HSV present in infants
blisters and inflammation of the brain - meningoencephalitis
148
what does treponema pallidum cause when transmitted to a fetus in utero
congenital syphilis
149
what can congenital syphilis cause in a foetus
fetal death
craniofacial malformations
rash
deafness
150
what is a symptom of parvovirus 19 in an infected newborn
anaemia of an infected newborn due to reduction in red blood cells
151
what non specific signs and symptoms are there for TORCH infection
fever
development of microcephaly
low birth weight
lethargy
cataracts
hearing loss
congenital heart disease
hepatosplenomegaly
may have petechiae or purpura
may have jaundice
152
how is TORCH infection diagnosed
history of maternal infections during pregnancy
prenatal ultrasound
PCR testing of the amniotic fluid
physical examination of the child plus viral cultures, PCR and antibody testing post birth
153
How are children with toxoplasmosis treated
with pyrimethamine - antiparasitic
and sulfadiazine - antibiotic
154
how are cases of HSV infection treated
acyclovir
155
how is congenital CMV infection treated
ganciclovir or other antiviral medications
156
how is rubella treated
supportive
- screening for hearing and vision issues
- surgery for any heart defects
157
how is treponema pallidum treated
benzylpenicillin
158
what is gastroschisis
abdominal wall defect where the abdomen doesnt fully develop in the womb
- intestines develop outside and are open to the air when the child is born
159
what is the difference between gastroschisis and omphalocele
there is a membrane covering the babies organs with an omphalocele diagnosis and no membrane covers the organs during gastroschisis
160
what are the symptoms of gastroschisis
findings on ultrasound may include:
stomach, large or small intestines located outside the foetus' body
- swollen intestines
- twisted intestines
- hypothermia
161
how is gastroschisis diagnosed
diagnosis is either during pregnancy or visually once the baby is born
- ultrasound
- blood screening - alpha-fetoprotein
- MRI
162
163
164
are there any complications or gastroschisis surgery
infection at surgical site
difficulty eating
164
how is gastroschisis treated
surgery is necessary to place childrens organs back into their body and to repair the hold the organs in the abdomen
depending on severity will be
- primary repair: neonate will receive surgery immediately after birth
- staged repair
164
are there any bowel complications after gastroschisis treatment
bowel resection due to damaged intestines
ileostomy or colostomy
165
what are side effects of gastroschisis
premature birth
intestinal blockage
short bowel syndrome
166
what is oesopageal atresia
a birth defect that affects the way the babies oesophagus develops, where the passageway is missing or closed making it impossible for the baby to feed normally
167
what other birth defect occurs very commonly with oesophageal atresia
tracheoesophageal fistula, where the oesophagus connects to the trachea meaning they can inhale or choke on what they swallow
168
what are the different types of oesophageal atresia
Type A: doesnt include tracheoesophageal fistula and the oesophagus is closed at the bottom
Type B: oesophagus is closed at the bottom and a tracheoesophageal fistula branches off from the upper part of the oesophagus connecting it to the trachea
Type C: oesophagus is in two separate pieces. upper part connects mouth and ends in a closed loop, and lower part connects to the stomach at the bottom and trachea at the top
Type D: oesophagus is in two unconnected segments and both have separate tracheoesophageal fistulas
169
what is the most common type of oesophageal atresia
type c
170
what are symptoms of oesophageal atresia
coughing
choking
cyanosis
foamy mucus in babies mouth
excess saliva, spitting up or drooling
gagging when attempting to feed
respiratory distress
171
are there any risk factors associated with oesophageal atresia
advanced maternal age or paternal age - 35 and 40 respectively
assisted reproduction technologies
multiple births
other congenital malformations and genetic syndromes
172
how is oesophageal atresia diagnosed
may be seen on antenatal ultrasound
mother may have polyhydramnios
after birth: attempt to pass a tube into babies stomach, Xray
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how is oesophageal atresia managed
immediate intervention: suctioning of fluids from babies oesophagus, install breathing tube, install feeding tube, IV antibiotics
surgery soon after birth - anastomosis and close off connections
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what is the recovery and follow up of oesophageal atresia
the baby will need an oesophagram several days after the surgery to look at what happens when fluid passes through their oesophagus
175
what is bowel atresia
gap or narrowing in the bowel that leads to a segment of the bowel not developing correctly causing a complete blockage, not allowing fluid of food to pass through
176
where is bowel atresia most common
in the small bowel - jejunum and ileum
177
how common is bowel atresia
1/5000 babies
178
how is bowel atresia diagnosed
in a few babies the diagnosis can be made on antenatal ultrasound scans
after birth if there is evidence of a blockage the neonate will have an X-ray and occasionally a contrast study
179
how do babies with bowel atresia present
will present soon after birth with bilious vomiting
abdomen may be swollen
may be jaundiced
not passing meconium
180
what is the initial management of bowel atresia
milk feeds stopped
NG tube to drain any fluid and air collecting in the stomach
IV fluids
181
how is bowel atresia treated
surgery in the first few days of birth
- atresia cut away and bowel is joined together or a temporary stoma is made
182
what will the bowel proximal to the atresia be like
may be dilated and dysmotile
183
what is recovery like post bowel atresia surgery
dependent on type of atresia
- may be able to drink milk few days post operation
- those who have dilated bowel proximal to the atresia will take longer to get better
- may require parenteral nutrition
184
what is the cause of bowel atresia
think it is due to reduced blood supply to sections of the bowel during development
185
what is type 1 bowel atresia
The blockage, which can be partial or complete, is caused by a web-like membrane that forms inside the intestine while the baby is developing in the womb. The baby’s intestine usually grows to normal length.
186
what is type 2 bowel atresia
The blockage results when one or more segments of the intestine forms a “blind end.” The blind ends are connected by a cord of fibrous tissue, and the baby’s intestine usually grows to normal length.
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what is type 3 bowel atresia
the segments that end in blind ends are not connected by a fibrous cord. As a result, the blood supply within the intestine is interrupted, and the baby’s intestine usually fails to grow to a normal length. If the end of the intestines below the blockage is not coiled, the blockage is called a type IIIa atresia. Sometimes, however, that end forms a spiral “apple-peel” shape. Such a blockage is known as a type IIIb atresia.
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what is type 4 bowel atresia
The blockage involves many obstructions, giving the intestine a “string-of-sausages” appearance. The blockages may include various combinations of types I, II and III atresia. The baby’s intestine is significantly shorter than normal.
189
what is gestational diabetes
it is diabetes which is triggered by pregnancy caused by reduced insulin sensitivity during pregnancy
190
what are the most significant immediate complications of gestational diabetes
large for date fetus
macrosomia
191
what are risk factors for developing gestational diabetes
previous gestational diabetes
previous macrosomic baby (>4.5kg)
BMI>30
ethnic origin - black carribean, middle eastern and south asian
family history of diabetes
192
when is an oral glucose tolerance test used in patients
when there are risk factors for gestational diabetes and when there are features which suggest gestational diabetes such as
- large for date fetus
- polyhydramnios
- glucose on urine dipstick
193
how is the OGTT performed
in the morning after a fast
patient drinks 75g glucose drink
blood sugar is measured before the sugar drink and then at 2 hours
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what are normal results of OGTT
fasting <5.6 mmol/l
at 2 hours <7.8 mmol/l
anything higher than that suggests gestational diabetes
195
what are babies of mothers with gestational diabetes at risk of
neonatal hypoglycaemia
polycythaemia (raised haemoglobin)
jaundice (raised bilirubin)
congenital heart disease
cardiomyopathy
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what do babies of mothers with gestational diabetes need monitoring after birth
they need close monitoring of their blood sugars for neonatal hypoglycaemia
- may need IV dextrose
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what do babies need to maintain their blood sugar above
2mmol/l
198
what is the impact of a mother with hypothyroidism on the foetus
lower IQ and impaired psychomotor development
199
how does uncontrolled hyperthyroidism affect the foetus
preterm birth
low birth weight baby
neonatal graves disease
200
what are symptoms and signs of neonatal thyrotoxicosis
small for gestational age - or intrauterine growth restriction
preterm birth
goitre
central nervous system signs - irritability and restlessness
eye signs - lid retraction, oedema, proptosis
cardiovascular signs - tachycardia
systemic and pulmonary hypertension
hypermetabolism
hepatosplenomegaly
lymphadenopathy
thrombocytopenia
microcephaly
frontal bossing
jaundice and liver disease
201
is screening for GBS offered to women in the uk
no
202
how is GBS diagnosed
while it is not routinely screened for it may be found during pregnancy during a vaginal/anal swab or urine test
203
how can a mother with GBS affect her baby
majority do not become ill
neonate can develop sepsis, pneumonia and meningitis
204
what increases the risk of a neonate developing GBS acquired illness
preterm delivery
previous baby with GBS infection
high temperature or other signs of infection during labour
positive urine or swab test for GBS in pregnancy
waters broken more than 18 hours before the baby is born
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how is the risk to the baby reduced with a GBS positive mother
- if GBS is found during pregnancy give IV during labour
- if urine infection with GBS treat immediately and IV drip during labour
- if they have had a previous baby who developed GBS infection, IV antibiotics during delivery
- if waters break after 37 weeks, induction of labour straight away to reduce exposure time
- if labour is before 37 weeks recommended to have IV antibiotics no matter GBS status
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what antibiotic is given for GBS infection
Benzylpenicillin
if allergic can give vancomycin
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what are signs of neonatal GBS infection
grunting, noisy breathing, respiratory distress signs
lethargic or unresponsive
crying inconsolably
unusually floppy
not feeding or keeping feed down
high or low temperature
skin changing colour
low blood pressure
low blood sugar
abnormally fast or slow heart and breathing rate
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what treatment is given to neonates with suspected GBS infection
penicillin
209
how is GBS infection diagnosed in neonates
bloods - cultures and general bloods
lumbar puncture
210
how is HSV transmitted to a neonate
during delivery through an infected maternal genital tract
211
what are symptoms and signs of neonatal HSV infection
local or disseminated disease
skin vesicles
localised CNS disease
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how is neonatal HSV infection diagnosed
HSV culture or PCR
immunofluorescent testing of lesions or electron microscopy
also need to test nasopharynx, eyes, rectum, blood, CSF
213
what is the mortality rate of untreated disseminated herpes simplex disease
85%
214
what is treatment of neonatal HSV infection
parenteral acyclovir
supportive therapy - IV fluids, respiratory support, correction of any clotting abnormalities, control of seizures
215
how can listeria be acquired during pregnancy
ingestion of contaminated dairy products, raw vegetables, meats or refrigerated foods that require no cooking before they are eaten
216
how does neonatal listeriosis present
depends on timing and the route of infection
- abortion
- still birth
- premature delivery with amnionitis
- neonatal sepsis
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how is neonatal listeriosis diagnosed
culture or PCR testing of blood, cervix, amniotic fluid of febrile pregnant woman
culture or PCR of blood, CSF, gastric aspirate, meconium and infected tissues of neonate
218
what is the treatment of neonatal listeriosis
ampicillin plus an aminoglycoside
other drugs include ampicillin/penicillin with rifampicin or trimethoprim/sulfamethoxazole
219
how can neonatal listeriosis be avoided
avoid food products with higher risk of contamination by listeria such as unpasturised dairy produces, soft cheeses, raw vegetables, deli meats and salads, refrigerated meat spreads or smoked seafood
220
how may a pregnant woman with listeriosis present
may present with no symptoms or they may have flu like symptoms such as chills, fever and muscle aches
221
what is the prognosis for listeriosis in newborns
about 10 to 50% of newborns will die, death rate is higher among newborns who have early onset listeriosis
222
what are symptoms of listeria infection in newborns
little interest in feeding
irritability
fever
vomiting
difficulty breathing
223
what are causes of listeria infection
- raw vegetables contaminated from soil
- contaminated meat
- unpasturised milk or foods made with unpasturised milk
- certain processed foods such as soft cheeses, hot dogs and deli meats
224
what is a cleft lip and palate
openings or splits in the upper lip, the roof or the mouth or both due to facial structures not closing correctly during development
225
what are symptoms of cleft lip or palate
- split in the lip and the roof of the mouth that affects one or both sides of the face
- split in the lip that appears as a small notch or extends from the lip through the upper gum and palate into the bottom of the nose
- split in the roof of the mouth that doesnt affect appearance of the face
226
what symptoms might a baby have with a cleft lip
difficulty with feeding
difficulty swallowing with the potential for liquids or foods to come out of the nose
nasal speaking voice
chronic ear infections
227
what causes cleft lip and palate
occurs when the tissue in the babies face and mouth dont fuse correctly
- mix of environmental and genetic
228
what are risk factors for developing a cleft lip and palate
family history
exposure to certain substances during pregnancy such as cigarettes, alcohol and medications
diabetes
obesity during pregnancy
229
what are complications of cleft lip and palate
difficulty feeding
ear infections and hearing loss
dental issues
speech difficulties
challenges of coping with a medical condition
230
how is cleft lip and palate diagnosed
antenatal ultrasound
amniocentesis to determine if genetic condition involved
visual inspection post birth
231
who is involved in the treatment of cleft lip and palate
surgeons - plastic and ENT
oral surgeons
pediatricians
paediatric dentists
orthodontists
nurses
auditory or hearing specialists
speech therapists
genetic counselors
social workers
psychologists
232
typically when is surgery for cleft lip and palate performed
cleft lip repair - within the first 3 to 6 months of age
cleft palate repair - by the age of 12 months or earlier if possible
follow up surgeries - between the age of 2 and later teen years
233
what is the general surgical procedure for cleft lip
1. incisions made both sides of the cleft creating flaps of tissue
2. the flaps are then stitched together including the lip muscles
3. if nasal repair is needed this is done at the same time
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what is the general procedure of a cleft palate repair
incisions made on both sides of the cleft and repositions the tissue and muscle
this is then stitched closed
235
what is ear tube surgery
for children with cleft palate ear tubes may be placed to reduce the risk of chronic ear fluid which can lead to hearing loss
tubes are places in the eardrum to create an opening and prevent fluid buildup
236
what other treatments may be added for complications caused by cleft lip and palate
feeding strategies such as using a special bottle or feeder
speech therapy to correct difficulty with speaking
orthodontic adjustments to the teeth and bite such as having braces
monitoring by dentist for tooth development
monitoring for ear infections - ear tubes
hearing aids
therapy
237
why does neonatal hypoglycaemia happen
due to the neonate transitioning from a continuous glucose supply across the umbilical circulation to intermittent feed and fast cycle of milk feeding
238
what neonates have risk factors for hypoglycaemia
maternal diabetes
maternal medication use - beta blockers
small for gestational age - less than 10th percentile
large for gestational age - greater than 90th
intrauterine growth restriction
premature birth - less than 37 weeks
G6DP deficiency
fatty acid oxidation disorders
glycogen storage disease
congenital disorders - hyperinsulinism, hormone deficiencies, adrenal hyperplasia
resp. distress
sepsis
poor suck
vomiting
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what are signs of neonatal hypoglycaemia
central nervous system excitation
- jitteriness
- high pitched cry
- seizures
central nervous system depression
- lethargy
- apnoea
- poor feeding
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what investigations are done when a neonate is suspected to have hypoglycaemia
true blood glucose via a capillary blood gas
glucose infusion rate - measure of how much glucose a neonate is receiving
bloods
urine
241
what is the treatment for neonatal hypoglycaemia
need to keep baby warm, pink, sweet (Maintaining normal BGL), and calm
IV fluid with glucose
single bolus injection of glucagon
buccal glucose 40%
242
how are glucose levels monitored in a neonate
blood glucose taken before second feed (2-4 hours post birth) and this is repeated before every feed until blood glucose levels are stable for two consecutive tests
243
what do WHO recommend giving you child for the first 6 months of life
exclusively breastfeeding
244
how much formula milk should a baby receive per kg of body weight
about 150 ml
245
how much weight is acceptable for a baby to loose post birth
10 %
246
what age should a baby be back to their birth weight
day 10
247
what is the most common cause of excessive weight loss/not regaining weight as a neonate
dehydration due to underfeeding
248
when does weaning usually start
starts around 6 months
249
what are the three phases of growth
phase 1: first two years - rapid growth driven by nutritional factors
phase 2 : 2 years to puberty - steady slow growth
phase 3 : during puberty - rapid growth driven by sex hormones
250
what is faltering growth defined as
1. one or more centile spaces if their birthweight was below the 9th
2. two or more centile spaces if their birthweight was between the 9th-91st
3. three or more centile spaces if their birthweight was above the 91st
251
what are causes of failure to thrive
inadequate nutritional intake
difficulty feeding
malabsorption
increased energy requirement
inability to process nutrition
252
what is short stature defined as
two standard deviations below the average for their age and sex
253
what is a childs predicted height
boys: (mums height + dads height +14)/2
Girls: (mums height + dads height - 14)/2
254
what are causes of short stature
familial short stature
constitutional delay in growth and development
malnutrition
chronic diseases
endocrine disorders
genetic disorders
skeletal dysplasia's
255
what is constitutional delay in growth and puberty
it is a variation of normal development
leads to short stature in childhood but normal height in adulthood as puberty is delayed and the growth spurt lasts longer
256
what is a key feature of constitutional delay in growth and puberty
delayed bone age
257
what are the four major domains of child development
gross motor
fine motor
language
personal and social
258
what gross motor milestones should a child hit
4 months - support head and keep it in line with body
6 months - maintain sitting position
9 months - sit unsupported and start crawling
12 months - stand and begin cruising
15 months - walk unaided
18 months - squat, pick up things from floor
2 years - run, kick a ball
3 years - climb stairs one at time, stand on one leg for few seconds, ride tricycle
4 years - hop, climb and descend stairs like adult
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what fine motor early milestones should a child be hitting
8 weeks - fixes eyes on object 30cm in front of them and attempts to follow it
6 months - palmer grasp of objects
9 months - scissor grasp of objects
12 months - pincer grasp
14-18 months - clumsy use of spoon
260
what drawing skills should a child have at different developmental stages
12 months: holds crayon and scribbles
2 years: copies vertical line
2.5: copies horizontal line
3 years: copies circle
4 years: copies cross and square
5 years: copies triangle
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what are the 'tower of brinks' milestones in children
14 months: tower of two bricks
18 months: tower of 4 bricks
2 years: tower of 8 bricks
2.5 years: tower of 12 bricks
3 years: can build a 3 block bridge or train
4 years: can build steps
262
what are the different stages of pencil grasp in childhood development
under 2 years: palmer supinate grasp (fist)
2-3 years: digital pronate grasp
3-4 years: quadruped grasp or static tripod grasp
5 years: multiple tripod grasp
263
what are the expressive language milestones
3 months - cooing noises
6 months - makes noises with consonants
9 months - babbles
12 months - says single words in context
18 months - has around 5-10 words
2 years - combines 2 words, around 50+ words total
2.5 years - combines 3-4 words
3 years - basic sentences
4 years - tells stories
264
what are the repetitive language milestones
3 months - recognises parents and familiar voices
6 months - responds to tone of voice
9 months - listens to speech
12 months - follows simple instructions
18 months - understands nouns
2 years - understands verbs
2.5 years - understands propositions
3 years - understands adjectives
4 years - follows complex instructions
265
what are the personal and social milestones
6 weeks - smiles
3 months - communicates pleasure
6 months - curious and engaged with people
9 months - cautious and apprehensive with strangers
12 months - engages by pointing and handing objects, wave bye and claps
18 months - imitates activities
2 years - extends interest beyond parents, parallel play
3 years - seek out other children, bowel control
4 years - has best friend, dry by night, dresses self, imaginative play
266
what are red flags of development
lost developmental milestones
not being able to hold an object at 5 months
not sitting unsupported at 12 months
not standing independently at 18 months
not walking independently at 2 years
not running at 2.5 years
no words at 18 months
no interest in others at 18 months
267
what might a delay in the gross motor domain indicate
cerebral palsy
ataxia
myopathy
spinal bifida
visual impairment
268
what might a delay in the fine motor domain indicate
dyspraxia
cerebral palsy
muscular dystrophy
visual impairment
congenital ataxia (rare)
269
what might a delay in the speech and language domain indicate
specific social circumstances i.e multilingual
haring impairment
learning disability
neglect
autism
cerebral palsy
270
what might delay in personal and social domain indicate
emotional and social neglect
parenting issues
autism
271
what is Gillick competence
judgement about whether the understanding and intelligence of the child is sufficient to consent to treatment
272
what is frazer guidelines
specific guidelines surrounding contraception in patients under 16
1. they are mature and intelligent enough to understand the treatment
2. they cant be persuaded to discuss it with their parents or let the health professional discuss it
3. they are likely to have intercourse regardless of treatment
4. their physical or mental health is likely to suffer without treatment
5. treatment is in their best interest
273
what are classic dysmorphic features of downs syndrome
hypotonia - reduced muscle tone
brachycephaly - small head with flat back
short neck
short stature
flattened nose and face
prominent epicanthic folds
upward sloping palpebral fissures
single palmer crease
274
what are complications of downs syndrome
learning disability
recurrent otitis media
deafness - eustachian tube abnormalities
visual problems - myopia, strabismus and cataracts
hypothyroidism
cardiac defects - ASD, VSD, patent ductus arteriosus and tetralogy of fallot
atlantoaxial instability
leukaemia
dementia
275
what is the antenatal screening for downs syndrome
combined test - 11 - 14 weeks nuchal translucency, beta HCG and pregnancy associated plasma protein A
triple test - 14 to 20 weeks, beta HCG, alpha fetoprotein and serum oestriol
quadruple test - 14 to 20 weeks, same as triple test but with inhibin A added
276
what antenatal tests can be done to diagnose downs syndrome
chronic villus sampling - biopsy of placental tissues (before 15 weeks)
amniocentesis - aspiration of amniotic fluid
277
what is non invasive prenatal testing
blood sample from the mother and extracting the foetal DNA to perform DNA testing
- not a definitive test but good indication of if the foetus is affected
278
how is downs syndrome managed
occupational therapy
speech and language therapy
physiotherapy
dietician
pardiatrician
GP
health visitors
cardiologist
ENT specialist
audiologist
optician
social services for social care and benefits
additional support with educational needs
charities
279
what is Klinefelter syndrome
where a male has an additional X chromosome making them 47 XXY
280
what are features of klinefelter syndrome
usually appear normal males until puberty when features develop:
taller height
wider hips
gynaecomastia
weaker muscles
small torso
reduced libido
shyness
infertility
subtle learning difficulties
281
what are the management options for klinefelter syndrome
testosterone injections
advanced IVF techniques
breast reduction surgery
speech and language therapy
occupational therapy
physiotherapy
educational support
282
what is the prognosis of someone with klinefelters
slight increased risk of
- breast cancer than other males
- osteoporosis
- diabetes
- anxiety and depression
283
what is turners syndrome
where a female has a single X chromosome making them 45 XO
284
what are the features of turners syndrome
short stature
webbed neck
high arching palate
downward sloping eyes with ptosis
broad chest with widely spaces nipples
cubitus valgus
underdeveloped ovaried with reduced function
late or incomplete puberty
most women are infertile
285
what is cubital valgus
it is an abnormal feature of the elbow - when the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated angled away from the body
286
what conditions are associated with turners syndrome
recurrent otitis media
recurrent UTI
coarctation of the aorta
hypothyroidism
hypertension
obesity
diabetes
osteoporosis
various specific learning disabilities
287
what is the management of turners syndrome
growth hormone therapy
oestrogen and progesterone replacement
fertility treatment
288
what is noonan syndrome
autosomal dominant genetic disorder which stops traditional development in parts of the body
289
what causes Noonan syndrome
caused by multiple different genome mutations
290
what are features of Noonan syndrome
short stature
broad shoulders
download sloping eyes with ptosis
hypertelorism - wide space between eyes
prominent nasolabial folds
low set ears
webbed neck
widely spaced nipples
291
what are conditions which are associated with Noonan syndrome
congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
cryptorchidism - undescended testes
learning disability
bleeding disorders
lymphoedema
increased risk of leukaemia and neuroblastoma
292
what is the management for Noonan syndrome
There is no treatment for the underlying genetic defect. Management is supportive with involvement of the multidisciplinary team. The main complication is congenital heart disease and often patients will require corrective heart surgery
293
what is marfan syndrome
autosomal dominant condition affecting the gene responsible for creating fibrillin, resulting in abnormal connective tissue
294
what are features of marfan syndrome
Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
295
what are the two tests for arachnodactyly
1. cross thumb across palm, if thumb tip goes past the opposite edge this is a sign
2. wrap thumb and fingers of one hand around the other wrist, if thumb and fingers overlap this is a sign
296
what are conditions associated with marfans syndrome
Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic aneurysms
297
what is the management of marfans syndrome
minimise blood pressure and heart rate to reduce stress on the heart
avoiding intense exercise
avoid caffeine and stimulants
beta blockers and angiotensin receptor antagonists
physiotherapy
genetic counselling
yearly echocardiograms and ophthalmologist
298
what is fragile X syndrome
caused by a mutation in the FMR1 gene on the X chromosome, which codes for the fragile X mental retardation protein which plays a role in cognitive development
299
what is the inheritance pattern of fragile X syndrome
X linked
unclear if it is dominant or recessive as males are always affected but females vary in how much they are affected
300
what are features of fragile X syndrome
delay in speech and language development
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures
301
what is the management for fragile X syndrome
There is no cure for the condition. Management is supportive and involves treating the symptoms. This involves the multidisciplinary team to support the learning disability, manage autism and ADHD and treat seizures if they occur. Life expectancy is similar to the general population depending on associated disabilities and complications
302
what is Prader-Willi syndrome
genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father.
This can be due to a deletion of this portion of the chromosome, or when both copies of chromosome 15 are inherited from the mother.
303
what are features of Prader-willi syndrome
Constant insatiable hunger that leads to obesity
Poor muscle tone as an infant (hypotonia)
Mild-moderate learning disability
Hypogonadism
Fairer, soft skin that is prone to bruising
Mental health problems, particularly anxiety
Dysmorphic features
Narrow forehead
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
304
what is the management of prader-willi syndrome
no cure
carefully limiting access to food under guidance of a dietician to control weight
growth hormone
education support
social workers
psychologists
physiotherapists
occupational therapists
305
what is angelman syndrome
genetic condition caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother.
This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.
306
what are features of angelman syndrome
Delayed development and learning disability
Severe delay or absence of speech development
Coordination and balance problems (ataxia)
Fascination with water
Happy demeanour
Inappropriate laughter
Hand flapping
Abnormal sleep patterns
Epilepsy
Attention-deficit hyperactivity disorder
Dysmorphic features
Microcephaly
Fair skin, light hair and blue eyes
Wide mouth with widely spaced teeth
307
what is the management of angelman syndrome
no cure - MDT approach
Parental education
Social services and support
Educational support
Physiotherapy
Occupational therapy
Psychology
CAMHS
Anti-epileptic medication where required
308
what is William syndrome
deletion of genetic material on one copy of chromosome 7
It usually the result of a random deletion around conception, rather than being inherited from an affected parent.
309
what are the features of William syndrome
Broad forehead
Starburst eyes (a star-like pattern on the iris)
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Very sociable trusting personality
Mild learning disability
310
what conditions are associated with Williams syndrome
Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
Hypercalcaemia
311
what is the management of Williams syndrome
no cure - MDT approach
Echocardiograms
blood pressure monitoring
low calcium diet
avoid calcium and vitamin D supplements
312
What is edwards syndrome
trisomy 18 - causes physical growth delays during fetal development. children with trisomy 18 have low birth weight, multiple birth defects and defining physical characteristics
313
how common is edwards syndrome
1 out of every 5-6000 live births
more common in pregnancy however at least 95% of fetuses dont survive full term
314
what are symptoms of edwards syndrome in utero
very little fetal activity
single artery in umbilical cord
small placenta
birth defects
polyhydramnios
315
what are the characteristics of edwards syndrome after birth
decreased muscle tone
low set ears
internal organs forming or functioning incorrectly
issues with cognitive development - severe
overlapping fingers and/or clubfeet
small physical size - head, mouth, jaw
316
what severe symptoms of edwards syndrome can be present after birth
congenital heart disease and kidney disease
breathing abnormalities - resp. failure
gastrointestinal tract and abdominal wall issues
hernias
scoliosis
317
how is edwards syndrome diagnosed
antenatal ultrasound screening tests - look for fetal activity, amniotic fluid and placenta size
amniocentesis
chorionic villus sampling
screening
318
how is edwards syndrome managed
no cure
- cardiac treatment: surgery
- assisted feeding: NG tube
- orthopaedic treatment: bracing or surgery
- psychosocial support
319
what is Patau syndrome
trisomy 13 - genetic condition which affects how the face, brain and heart develop
319
how common is patau syndrome
estimated 1 out of 10-20,000 live births
mortality rate is high during first few days of life and only 5-10% of babies survive past their first year
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what are the symptoms of patau syndrome
Key features are;
Microcephalic
small jaw
small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
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what are the internal organ symptoms of patau syndrome
gastrointestinal problems - difficulty eating
heart failure
hearing issues
underdeveloped lungs
visual issues
increased risk of cancer and seizures
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what are the three types of trisomy 13
complete trisomy 13
translocation - 20% cases
Mosaic trisomy 13 - in some cells not all
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how is patau syndrome diagnosed
antenatal ultrasound scans plus genetic tests - karyotype testing
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how is patau syndrome treated
educational support
symptom treatment
speech, behavioural and physical therapy
surgery to repair physical abnormalities
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what is the legal framework for child safeguarding
the children act 1989
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what is a child in need
it refers to a child that is likely to need support services to maintain their health and development, or is disabled
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what are the different types of abuse
physical
emotional
sexual
neglect
financially
identity
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what are risk factors for abuse in children
domestic violence
previously abused parent
mental health problems
emotional volatility in household
social, psychological or economic stress
disability in a child
learning disability in the parents
alcohol misuse
substance misuse
non engagement with services
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what are possible signs of abuse
change in behaviour or extreme emotional stress
dissociative disorders
bullying, self harm or suicidal behaviours
unusually sexualised behaviours
unusual behaviour during examination
poor hygiene
poor physical or emotional development
missing appointments or not complying with treatments
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what is the management when there is a suspected safeguarding issue
NHS organisers have a safeguarding team/lead
once a concern has been identified that person who identifies is responsible for escalating it to someone who can take action on it
generally safeguarding cases are referred to childrens services (social services)
if a child is in immediate danger police may need to be involved
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what measures can be arranged by appropriate professionals to help support families of children with safeguarding concerns
Home visit programmes to support parents
parenting programmes
attachment based interventions to help parents bone and nurture their child
child-parent psychotherapy
parent-child interaction therapy
multi-systemic therapy for child abuse and neglect
cognitive behavioural therapy or children who have suffered trauma or sexual abuse
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what is the NHS traffic light system
it is used to identify risk of serious illness in under 5s
- used if a child presents with fever and symptoms or signs that indicate possible sepsis
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what are green - low risk presentations for possible sepsis on the traffic light system
normal colour
responds to social cues
content and smiles
stays awake and has a normal cry/not crying
normal skin and eyes with moist mucous membranes
no signs from red or amber symptoms or signs
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what are amber - medium risk presentations for possible sepsis on the traffic light system
pallor reported by parent or carer
not responding to normal social cues, no smile, wakes only with prolonged stimulation, decreased activity
nasal flaring
tachypnoea (>50 in 6-12m, >40 >12m)
o2 sats at or under 95
crackles
tachycardia (>160 <12m, >150 12-24m, >140 2-5yrs)
CRT >3
dry mucous membranes
poor feeding
reduced urine output
age 3-6m temp at or over 39
fever for over 5 days
rigors
swelling of a limb or joint
non weight baring
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what are red - high risk presentations for possible sepsis on the traffic light system
pale/mottled/ashen/blue skin
no response to social ques, appears ill to healthcare worker, does not wake or if roused doesnt stay awake
high pitched, weak or continuous cry
grunting
tachypnoea (>60)
moderate or severe chest indrawing
reduced skin turgor
age <3months with temp at or above 38
non blanching rash
bulging fontanelle
neck stiffness
status epilepticus, focal neuro sx, focal seizures
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