Paediatrics ILA 4-6 Flashcards

(338 cards)

1
Q

what is posseting?

A

small amounts of milk that accompany returns of swallowed air?

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2
Q

what is regurgitation?

A

losses of fluid orally that are larger than posseting

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3
Q

what is vomiting?

A

forceful ejection of gastric contents

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4
Q

what are 4 causes of GORD in infancy?

A
  1. inappropriate relaxation of the lower oesophageal sphincter
  2. fluid diet
  3. horizontal posture
  4. shorter intra-abdominal length
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5
Q

at what age do most instances of infantile GORD resolve?

A

12 months/1 year

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6
Q

what 3 infant groups is GORD more likely in?

A
  1. preterm babies
  2. post-surgery for oesophageal atresia
  3. cerebral palsy
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7
Q

how do you diagnose complicated GORD in infants?

A
  1. clinical history
  2. 24 hour oesophageal pH monitoring
  3. 24 hour impedance monitoring
  4. oesophageal biopsies and endoscopy
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8
Q

how do you treat uncomplicated GORD?

A
  1. thickening agents

2. smaller, more frequent feeds

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9
Q

how do you treat complicated GORD?

A
  1. H2 receptor antagonists
  2. PPI
  3. Nissen fundoplication surgery
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10
Q

what are 5 signs that GORD in a baby is complicated?

A
  1. struggling to gain weight
  2. begins after 6 months
  3. projectile vomiting
  4. coughing or gagging
  5. blood in poo or persistent diarrhoea
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11
Q

what is pyloric stenosis?

A

a condition where there is hypertrophy of the pyloric muscle, resulting in obstruction of the gastric outlet

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12
Q

what is the ratio of boys to girls in babies that suffer pyloric stenosis?

A

4:1

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13
Q

what are 5 signs and symptoms of pyloric stenosis?

A
  1. vomiting (that is increasing in forcefulness and frequency and becoming projectile)
  2. hunger after vomiting
  3. dehydration
  4. weight loss
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14
Q

how do you diagnose pyloric stenosis?

A
  1. test feed
  2. possible palpable pyloric mass in RUQ
  3. US
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15
Q

how do you treat pyloric stenosis?

A
  1. correct fluid and electrolyte balance with IV fluids

2. pyloromyotomy

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16
Q

what are three metabolic imbalances that are associated with pyloric stenosis?

A
  1. hyponatraemia
  2. hypokalaemia
  3. hypochloraemic alkalosis
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17
Q

what are 4 signs and symptoms of IBS?

A
  1. non-specific abdominal pain
  2. bloating
  3. feelings on incomplete defecation
  4. constipation
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18
Q

what accounts for 60% of cases of gastroenteritis in developed countries?

A

rotavirus

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19
Q

what are three bacteria that cause gastroenteritis, and what is an associated symptom for each infection?

A
  1. campylobacter- severe abdo pain
  2. shigella- blood and pus in stool
  3. cholera- rapidly dehydrating diarrhoea
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20
Q

what are 3 groups that are at extra risk of dehydration in gastroenteritis?

A
  1. infants <6 months with low birthweight
  2. unable to tolerate extra fluids
  3. > 6 stools in 24 hours
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21
Q

what electrolyte imbalance is common in children with profuse diarrhoea as a result of gastroenteritis and how might it present in a severe case?

A

hyponatraemia, presents with seizures

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22
Q

what electrolyte imbalance is present in children with profuse diarrhoea as a result of gastroenteritis where the loss of water exceeds the loss of salt and how might it present?

A

hypernatraemia, jittery movements, increased tone, seizures

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23
Q

how do you diagnose gastroenteritis if the child is septic?

A

stool culture

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24
Q

what blood levels should be checked if a child with gastroenteritis required IV fluids?

A
  1. plasma electrolytes
  2. urea
  3. creatinine
  4. glucose
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25
how do you treat gastroenteritis?
1. primary and overarching treatment is oral rehydration solution 2. IV fluids in shock 3. antibiotics with sepsis
26
what 3 things might precipitate constipation?
1. dehydration 2. reduced fluid intake 3. anal fissure
27
what are 5 conditions that must be considered in a constipated infant/child?
1. hirschprung's disease 2. coeliac disease 3. hypercalcaemia 4. anorectal abnormalities 5. hypothyroidism
28
what is the clinical presentation of long-standing constipation?
overdistended rectum with involuntary soiling and overflow diarrhoea
29
how do you treat constipation?
1. stool softeners- polyethylene glycol and electrolytes (on a reducing dose over months) 2. stimulant laxatives- senna 3. osmotic laxatives- lactulose, if stool softeners are intolerable 4. encourage child to sit on the toilet after mealtimes
30
how do you treat severe fecal retention?
enemas
31
what are 5 signs and symptoms of acute appendicitis?
1. anorexia 2. vomiting 3. abdo pain centrally then localising to the right iliac fossa 4. fever 5. pain aggravated by movement 6. persistent tenderness and guarding at mcburneys point
32
how do you diagnose acute appendicitis?
1. clinical presentation and history 2. ultrasound 3. X-ray for faecaliths in younger children
33
how do you treat appendicitis with generalised guarding, and appendicitis with progressed symptoms?
1. generalised guarding- antibiotics and fluid resuscitation | 2. progressed symptoms- laparotomy
34
what % of boys get inguinal hernias?
5%
35
what is the basic clinical presentation of an inguinal hernia?
lump in the groin which can extend into the scrotum, it may be visible on straining.
36
what are 2 complications of an inguinal hernia?
1. intestinal obstruction | 2. testicular damage
37
how do you treat an inguinal hernia?
1. gentle compression to reduce | 2. surgery involving ligation and division of the processus vaginalis
38
what are five signs and symptoms of inflammatory bowel disease in children?
1. weight loss 2. abdominal pain 3. bloody diarrhoea 4. poor growth 5. anaemia
39
how do you diagnose inflammatory bowel disease?
1. FBC | 2. CXR (for perforation), 3. colonoscopy (with biopsy)
40
how do you treat inflammatory bowel disease?
1. steroids- prednisolone (in general, lots of differences in UC and crohns and severities) 2. resective surgery
41
what are three symptoms that are suggestive of malabsorption?
1. diarrhoea 2. failure to thrive 3. anaemia
42
what are 6 signs and symptoms of coeliac disease?
1. anaemia 2. fatigue 3. diarrhoea 4. weight loss 5. short stature 6. 'irritable bowel' symptoms
43
what are 2 conditions that are commonly associated with childhood crohn's disease?
1. type 1 diabetes | 2. hypothyroidism
44
what are the two specific values that are raised in the bloods of someone with coeliac disease?
1. IgA anti-tissue transglutaminase (IgA-tTG) | 2. endomysial antibodies (EMA)
45
what blood value is most useful in diagnosing coeliac disease in children <18 months old
IgA anti-gliadin antibodies (IgA-AGA)
46
how do you diagnose coeliac disease?
1. IgA-tTG, EMA or IgA-AGA in bloods 2. villous atrophy on small bowel biopsy via endoscopy 3. gluten challenge test- avoid until the diagnosis in in doubt
47
how do you manage coeliac disease?
gluten-free diet
48
what are 5 causes of malabsorption?
1. coeliac disease 2. cystic fibrosis 3. post-enteritis enteropathy 4. giardia 5. rotavirus 6. bacterial overgrowth 7. worms 8. short bowel syndrome
49
what is meant by 'failure to thrive'?
poor weight gain in infancy where head circumference is preserved relative to height which is preserved relative to weight.
50
what are 7 features to note with a child who is failing to thrive?
1. signs of abuse 2. feeding patterns 3. behaviour 4. activity level 5. family finances 6. chart family heights 7. dysmorphic face
51
what are 5 tests to do for a child who is failing to thrive?
1. check feeding technique 2. clean catch urine 3. coeliac serology 4. skeletal survey 5. glucose 6. LFT 7. calcium 8. proteins 9. immunoglobulin 10. crp 11. TSH
52
what is marasmus and what condition is it associated with?
a lack of calories with a discrepancy between height and weight (height is preserved), associated with HIV.
53
what are five signs and symptoms of marasmus?
1. distended abdomen 2. diarrhoea 3. infection 4. mid-arm circumference <9.9cm 5. decreased albumin
54
how do you manage marasmus?
1. largely at home with 6 months+ of fortified feeds | 2. may need parenteral feeding to restore hydration and renal function
55
what causes kwashiorkor?
decreased intake of protein and amino acids
56
what are 5 signs and symptoms of kwashiorkor?
1. poor growth 2. distended abdomen 3. diarrhoea 4. anorexia 5. oedema 6. skin and hair depigmentation
57
how do you treat kwashiorkor?
offer a gradually increasing high-protein diet
58
what is the pathophysiology of hirschprung's disease?
congenital lack of ganglia in a segment of the colon leading to GI obstruction, constipation and megacolon
59
what is the main symptom of constipation?
therapy resistant constipation that cannot be treated by laxatives or stool softeners
60
what are 3 potential complications of hirschprung's disease?
1. GI perforation 2. bleeding 3. ulcers
61
how do you diagnose hirschprungs disease?
1. rectal suction biopsy of the aganglionic section | 2. staining for acetylcholinesterase-positive nerve excess
62
how do you treat hirschprungs disease?
surgical resection of the aganglionic section of colon +/- colostomy
63
what is the most common cause of intestinal obstruction in children?
intussusception
64
what are 5 signs and symptoms of intussusception?
1. episodic inconsolable crying 2. drawing up the legs 3. red-currant jelly stools 4. vomiting 5. sausage shaped abdominal mass
65
how do you diagnose intussusception?
1. ultrasound with reduction by air enema | 2. CT
66
how do you manage intussusception?
1. surgery | 2. supportive care
67
what is meckel's diverticulum?
a congenital defect involving an outpouching of the lower part of the small intestine, which contains embryonic remnants of gastric and pancreatic tissue
68
what are 2 signs and symptoms of meckel's diverticulum?
1. gastric acid secretion causing GI pain | 2. occult bleeding
69
how do you treat meckel's diverticulum?
laporoscopic resection of the outpouching
70
what is toddler's diarrhoea?
a chronic, non-specific diarrhoea mostly affecting boys age 1-5, 3 or more loose watery stools per day that may be pale or poorly digested.
71
how do you treat toddler's diarrhoea?
1. usually no treatment is needed particularly if symptoms are mild 2. fat, fluid, fruit juices and fiber (4 F's)- eat more fat, change fiber, dont drink too many fruit juices or fluids
72
what is colic?
paroxysmal, inconsolable crying with drawing up of knees and excessive flatus
73
what % of babies experience colic?
40%
74
when does colic usually resolve?
3-12 months
75
what does severe and persistent colic usually indicate?
cow milk protein allergy
76
what 3 things should always be checked in a child with colic?
1. testes 2. hernia orifices 3. hip joints
77
what are 5 infective/inflammatory causes of colic?
1. appendicitis 2. referred pain from lower lobe pneumonia 3. DKA 4. UTI 5. pancreatitis
78
what are the two types of cow's milk protein allergies?
1. IgE mediated | 2. non-IgE mediated
79
what are 4 signs and symptoms of cow's milk protein allergy?
1. colic 2. GORD 3. blood/mucus in stools 4. faltering growth
80
how do you diagnose cow's milk protein allergy?
allergen test using cow's milk
81
how do you manage cow's milk protein allergy?
1. breastfed- mother must exclude cow's milk from her diet | 2. formula fed- switch to hypoallergenic, extensively-hydrolysed or amino acid formula
82
what is biliary atresia?
biliary tree occlusion due to angiopathy (scarred and blocked bile ducts leading to inadequate drainage)
83
what are 4 signs and symptoms of biliary atresia?
in previously healthy term babies, onset mostly between birth and 6-8 weeks- 1. jaundice 2. yellow urine 3. pale stools 4. later, palpable spleen and hard and enlarged liver
84
how do you diagnose biliary atresia?
1. conjugated bilirubin fraction 2. review of newborn screen 3. LFT and clotting screen 4. abdominal ultrasound if after these steps, it remains a viable diagnosis
85
how do you manage biliary atresia?
1. without end stage liver disease-hepatoportoenterostomy (intestinal limb attached to drain bile from porta hepatis) 2. with end-stage liver disease- liver transplant 3. ongoing antibiotic prophylaxis and ursodiol
86
what % of patients with choledochal cysts present before the age of 10 years?
80%
87
what is a choledochal cyst?
a congenital abnormality of the biliary tree that can cause swelling and backing up of bile
88
what are signs and symptoms of choledochal cysts?
1. obstructive jaundice 2. abdominal mass 3. colic, jaundice and palpable RUQ in 20%
89
how do you diagnose choledochal cysts?
1. abdominal ultrasonography 2. abdominal CT/ MRI 3. endoscopic retrograde cholangiopancreatography 4. can often be detected on antenatal ultrasound
90
how do you treat choledochal cysts?
surgical excision of the cyst
91
what are 4 signs and symptoms of neonatal hepatitis syndrome?
1. faltering growth 2. low birth weight 3. jaundice 4. hepatosplenomegaly
92
what are 3 causes of neonatal hepatitis syndrome?
1. idiopathic 2. viral- cytomegalovirus, rubella virus, hepatitis 3. metabolic conditions
93
what are 5 signs and symptoms of acute liver failure?
1. jaundice 2. coagulopathy 3. encephalopathy 4. hypoglycaemia 5. electrolyte disturbance
94
how do you manage acute liver failure?
1. maintain glucose with IV dextrose 2. broad spectrum antibiotics 3. IV vitamin K and H2 blocking drugs to prevent GI haemorrhage 4. fluid restriction to prevent cerebral oedema
95
what are five causes of chronic liver disease?
1. hepatitis B 2. autoimmune hepatitits 3. wilson's disease 4. sclerosing cholangitis 5. hepatitis C
96
what are five signs and symptoms of sclerosing cholangitis
1. liver failure 2. skin rash 3. arthritis 4. haemolytic anaemia 5. nephritis
97
how do you diagnose sclerosing cholangitis?
1. hypergammaglobulinaemia 2. positive autoantibodies 3. low serum C4 4. histology
98
how do you manage sclerosing cholangitis?
1. prednisolone and azathioprine | 2. ursodeoxycholic acid
99
what are 5 signs and symptoms of wilson's disease?
1. liver disease 2. tremor 3. dysarthria 4. parkinsonism 5. ataxia
100
how do you diagnose wilson's disease?
1. LFT 2. 24hr copper excretion is high 3. serum copper and caeruloplasmin
101
how do you treat wilson's disease?
1. avoid foods with a high copper content 2. lifelong penicillamine 3. zinc to reduce copper absorption 4. pyridoxine (vitamin B6) to prevent peripheral neuropathy 5. liver transplant is considered
102
what are 4 signs and symptoms of encephalopathy?
1. infants- irritability, sleepless 2. changes to mood 3. changes to sleep rhythm 4. changes to intellectual performance
103
what is elevated in the plasma in encephalopathy?
ammonia
104
what should be restricted with encephalopathy?
protein
105
how do you treat pruritis?
1. loose cotton clothing 2. moisturising skin 3. phenobarbitol and cholestyramine
106
what are 4 things that can precipitate encephalopathy in liver failure?
1. GI haemorrage 2. sepsis 3. sedative drugs 4. renal failure
107
what are 5 physical signs of cirrhosis?
1. jaundice 2. palmar erythema 3. telangiectasia 4. spider naevi 5. hypotonia
108
what are 4 indications for liver transplant?
1. severe malnutrition 2. complications with medical management 3. failure of growth 4. poor quality of life
109
how do you treat variceal bleeding?
1. blood transfusion 2. H2 blockers 3. octreotide infusion 4. vasopressin analogue 5. ligation
110
what are 4 factors that contribute to ascites?
1. hypoalbuminaemia 2. sodium retention 3. renal impairment 4. fluid redistribution
111
what are 5 signs and symptoms of a UTI?
1. septicaemia 2. collapse 3. vomiting 4. colic 5. dysuria 6. malaise 7. fever 8. irritability 9. poor feeding 10. suprapubic tenderness
112
what 2 conditions are the kidneys at risk of in a child with a UTI?
1. renal scarring that if extensive can lead to renal failure 2. chronic pyelonephritis
113
how do you diagnose a UTI and what 2 values will be raised in the primary diagnostic investigation?
1. gold standard urine dipstick with a clean catch sample, raised nitrates or WCC +ve mean UTI is very likely 2. urine microscopy and culture
114
what test can you do to look for renal scarring?
renography in children with a history of UTI's
115
how do you manage a UTI?
1. age <3 months- amoxicillin and gentamicin or cephalosporin and ampicillin 2. uncomplicated- trimethoprim, nitrofurantoin or amoxicillin 3. if ill- gentamicin also
116
how do you manage vesicoureteric reflux (cause of 35% of cases of UTI's)?
prophylactic antibiotics and ureteric reimplantation
117
what is a UTI in the upper urinary tract called?
pyelonephritis (manifests the same as a lower UTI in general and has the same diagnostics and treatment)
118
what is nocturnal enuresis?
continued bedwetting in greater than 5 years and 6 years old in boys
119
what 3 things should sometimes be tested for with nocturnal enuresis?
1. diabetes 2. UTI 3. GU abnormality
120
what is secondary enuresis and what might it indicate?
wetness after >6 months of dryness, could indicate worries, illness or abuse
121
how do you diagnose nocturnal enuresis?
1. clinical presentation and history | 2. can do urinalysis and urinary tract ultrasound to rule out UTI and GU abnormality
122
how do you manage nocturnal enuresis?
1. advise and reassure 2. avoid caffeine based drinks 3. rewards for agreed behaviours 4. setting alarms reminding to urinate 5. desmopressin when it definitely needs to be avoided- EG school trips
123
what is hypospadias?
abnormal position of the external urethral meatus on the ventral penis
124
what procedure should be avoided in children with hypospadias?
circumcision
125
how do you manage hypospadias?
1. reassurance and hygiene 2. topical corticosteroid 3. preputial surgery
126
what is phimosis?
excessively tight foreskin that causes difficulty with retraction over the glans
127
what are signs and symptoms of phimosis?
1. ballooning foreskin on voiding | 2. balanitis (can be chronic)
128
up to what age is it normal to have a non-retractile foreskin?
4 years old
129
how do you manage phimosis?
1. stretching exercises | 2. topical corticosteroid cream
130
what is the pathophysiology of haemolytic uraemic syndrome?
1. acute microangiopathic haemolytic anaemia 2. thrombocytopenia 3. renal failure 4. endothelial damage to glomerular capillaries
131
what symptom are 95% of cases of haemolytic uraemic syndrome associated with?
diarrhoea
132
what toxin is haemolytic uraemic syndrome associated with?
shiga toxin
133
what are 4 signs of haemolytic uraemic syndrome?
1. colitis 2. haemoglobinuria 3. oliguria 4. encephalopathy/ cns signs 5. coma
134
how do you manage haemolytic uraemic syndrome?
1. early dialysis if required with paediatric nephrology 2. treat renal failure 3. relapses can be prevented with steroids, splenectomy or vincristine
135
what are the two main signs/symptoms that would make you suspect acute kidney injury?
1. rapid rise in creatinine | 2. development of oliguria/anuria
136
what are 5 causes of acute kidney injury?
1. secondary to cardiac surgery 2. bone marrow transplantation 3. drug toxicity 4. sepsis 5. haemolytic uraemic syndrome
137
what are 4 drugs that can cause acute kidney injury?
1. nsaids 2. aminoglycosides 3. vancomycin 4. aciclovir
138
what are the RIFLE criteria to categorise the degree of acute kidney injury?
based on magnitude of changes in EGFR and urine output- 1. R- risk 2. I- injury 3. F- failure 4. L- loss of function 5. E- end stage renal failure
139
what are 5 plasma changes that are indicative of acute kidney injury?
1. raised potassium 2. raised creatinine 3. raised urea 4. low sodium 5. low calcium 6. low chloride
140
how do you diagnose acute kidney injury?
``` 1. blood tests prompt abdominal ultrasound 2. ECG 3. serum and urine osmolality 4. clotting studies ```
141
what may be seen on ultrasound of a child with acute kidney injury that would require immediate surgical intervention?
dilation of the ureters
142
how do you manage acute kidney injury?
1. treat shock and dehydration 2. with low urine/plasma osmolality, use diuretics 3. 24 hour fluid requirement 4. treat the underlying cause
143
what are five causes of chronic renal failure?
1. congenital dysplastic kidneys 2. pyelonephritis 3. glomerulonephritis 4. recurrent infection 5. reflux nephropathy
144
what are five things that should be monitored in a child with chronic renal failure?
1. growth 2. bp 3. u+e 4. calcium 5. phosphate
145
what are 5 signs and symptoms of chronic renal failure?
1. weakness 2. tiredness 3. vomiting 4. headache 5. restlessness 6. twitches 7. increased blood pressure 8. hypertensive retionpathy 9. anaemia 10. failure to thrive 11. seizures 12. coma
146
how do you manage chronic renal failure?
1. discuss and proceed with dialysis if necessary 2. ensure that there is a dietician involved if vomiting is a problem 3. growth hormone therapy can improve problems with growth 4. ensure calcium is normalised to prevent renal osteodystrophy 5. erythropoietin can be indicated with anaemia
147
what are the 2 main signs of nephrotic syndrome?
1. heavy proteinuria | 2. low albumin and oedema
148
what purpuric condition can cause nephrotic syndrome?
henoch-schonlein purpura
149
what are 5 signs and symptoms of nephrotic syndrome?
1. insidious onset oedema, periorbital then generalised 2. anorexia 3. gi disturbance 4. infections 5. ascites 6. oliguria 7. irritability
150
what are the two main types of nephrotic syndrome?
1. minimal change disease | 2. congenital nephrotic syndrome
151
how do you diagnose nephrotic syndrome?
1. urine- frothy, albuminous with or without casts, low sodium 2. blood- low albumin, urea and creatinine are usually normal 3. renal biopsy for older children
152
how do you manage nephrotic syndrome?
1. pneumococcal vaccine prophylaxis 2. eat healthily with no added salt or protein 3. fluid restrict to 800-1000ml per day 4. diuretics if very oedematous 5. albumin infusion if severe oedema or hypovolaemia 6. predinisolone, cyclophosphamide if steriod resistant
153
what is minimal change disease?
the most common form of nephrotic syndrome in children, with minimal histological change
154
what % of cases of minimal change disease are idiopathic?
90%
155
what are 2 things that differentiate congenital nephrotic syndrome from minimal change disease?
1. congenital nephrotic syndrome usually begins within the first 3 months of life 2. congenital nephrotic syndrome is due to a genetic mutation
156
what are 5 signs and symptoms of post-streptococcal glomerulonephritis?
1. gross haematuria 2. oedema 3. hypertension 4. malaise 5. fever 6. presents 7-21 days aftere a streptococcal infection
157
what are 2 infections that can precede post-streptococcal glomerulonephritis?
1. impetigo | 2. pharyngitis
158
how do you diagnose post-streptococcal glomerulonephritis?
1. urine- proteinurea with rbc casts and oliguria | 2. blood- raised urea and creatinine
159
how do you treat post-streptococcal glomerulonephritis?
1. sodium restriction 2. diuretics 3. antihypertensive medication 4. give penicillin for 10 days 5. regularly check bp 6. nitroprusside if encephalopathic
160
what is henoch-schonlein purpura?
an acute, immune complex-mediated vasculitis
161
what often precedes henoch-schonlein purpura?
upper respiratory tract infection
162
what is the triad of symptoms for henoch-schonlein purpura?
1. purpura 2. arthritis/ arthralgia 3. abdominal pain
163
how do you diagnose henoch-schonlein purpura?
1. urinalysis- proteinuria 2. bloods- raised ESR, raised serum IgA 3. U+E and BP
164
how do you treat henoch-schonlein purpura?
1. analgesia 2. corticosteroids 3. surgical consultation with severe abdominal pain
165
what are 3 complications of henoch-schonlein purpura?
1. massive GI bleeding 2. ileus leading to intestinal obstruction 3. acute renal failure
166
what is alport syndrome?
an inherited, progressive, haematuric nephropathy, categorised as a nephritic syndrome
167
what 2 organs can alport's syndrome effects other than the kidneys?
1. cochlea- sensorineural deafness | 2. eyes- lenticonus
168
what substance is effected with alport's syndrome?
collagen IV, the main constituent of the basement membrane
169
does lupus in children cause a nephrotic or a nephritic syndrome?
nephritic syndrome
170
what is a basic way to differentiate nephritic and nephrotic syndrome?
nephrOtic- prOtein | nephritic- bloo
171
what is a simple febrile convulsion?
a single tonic clonic, symmetrical, generalised seizure lasting <15 minutes due to a rise in body temperature
172
what is the typical age range for a febrile convulsion?
0.5 years- 6 years
173
what are five things you should think of/exclude in a child with a tonic-clonic convulsion if there are focal signs, more than one seizure in 24hrs or a history of epilepsy?
1. meningo-encephalitis 2. CNS lesion 3. epileptic seizure 4. trauma 5. glucose levels
174
what are 2 aspects of the examination of a child with a febrile convulsion?
1. find a source of infection | 2. neck stiffness can point to meningitis
175
how do you treat a febrile convulsion?
if the convulsion does not go away by itself by 5 minutes- 1. recovery position 2. iv lorazepam, buccal midazolam or diazepam 3. paracetamol syrup
176
what is a reflex anoxic attack?
a paroxysmal, self-limiting brief asystole triggered by pain, fear or anxiety.
177
what are four types of seizures in generalised epilepsy?
1. tonic clonic 2. absences 3. infantile spasms/west syndrome 4. myoclonic seizures
178
what are 4 signs of partial epilepsy?
1. signs referable to one hemisphere 2. decreased consciousness 3. automatisms 4. fits of pure pleasure
179
what are 5 causes of epilepsy?
1. infection 2. hyponatraemia 3. reduced glucose 4. CNS tumour or malformation 5. flickering lights
180
what are 3 differentials for epilepsy in childhood?
1. arrhythmias 2. narcolepsy 3. night terrors
181
how do you diagnose epilepsy?
1. EEG 2. MRI 3. CT in an emergency
182
what are the names of 5 medications to manage epilepsy?
1. carbamazepine 2. ethosuximide 3. sodium valproate 4. lamotrigine 5. vigabatrin
183
what other sense does the development of speech link to?
hearing- a problem with hearing can cause a delay in speech
184
when do children normally say their first word?
11-20 months
185
what are signs that the child is hearing and vocalising normally as a newborn, at 6 weeks and a 12 weeks?
newborn- quietens to voice and startles to loud noises 6 weeks- responds to mothers voice 12 weeks- begins to laugh, coo and vocalise
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what is the average language development stage of a 6 month old?
consonant monosyllables like ba, da
187
what is the average language development stage of an 8 month old?
non-specific two-syllable babble like mama, dada
188
what is the average language development stage of a 13 month old?
2 syllable words become appropriate in context and can understand a restricted amount of simple words easily, such as 'no'
189
what is the average language development stage of an 18 month old?
vocabulary of 10 words and can identify 6 parts of the body, 2 word phrases like 'daddy come'
190
what is the average language development stage of a 24 month old?
subject-verb-object sentences appear like 'i want icecream'
191
what is the average conversation development stage of a 2 year old?
sentences become increasingly complex
192
what is the average conversation development stage of a 3 year old?
know their age, name and several colours
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what is the average conversation development stage of a 3 1/2 year old?
mastered thought, laungage, abstraction and reason, heaving a 1000 word vocabulary
194
what are four broad causes of delayed talking?
1. familial- parents had speech delay 2. hearing impairment- possibly chronic otitis media 3. environmental- deprivation, abuse 4. neuropsychological
195
what are 3 neuropsychological causes of delayed talking?
1. global developmental delay 2. landau-kleffner syndrome 3. autism spectrum disorder
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what are the 3 most likely cause of speech delay in a child with a vocabulary of less than 50 words at 3 years?
1. deafness 2. expressive dysphasia 3. speech dyspraxia
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what is the most likely cause of speech delay in a child with low speech clarity at 2.5 years old?
articulatory dyspraxia, often caused by tongue tie
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how do you manage speech delay?
speech therapy
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what is global neurodevelopmental delay?
delay in all skill areas, usually more pronounced in fine motor, speech and social skills.
200
what are 3 genetic causes of global neurodevelopmental delay?
1. down's syndrome 2. fragile X syndrome 3. duchenne muscular dystrophy
201
what are 2 congenital brain abnormalities that cause global neurodevelopmental delay?
1. hydrocephalus | 2. microcephaly
202
what are 2 pre-natal causes of global neurodevelopmental delay?
1. teratogens such as alcohol or drugs | 2. congenital infection like rubella or cmv
203
what are 2 peri-natal causes of global neurodevelopmental delay?
1. birth asphyxia | 2. extreme prematurity leading to intraventricular haemorrhage
204
what are 2 post-natal causes of global neurodevelopmental delay?
1. head injury | 2. CNS infection
205
at what age do babies normally learn to walk?
around 18 months old
206
what are 5 pre-natal causes of delayed walking?
1. ante-partum haemorrhage 2. x-rays 3. alcohol 4. cmv 5. rhesus disease
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what are 3 peri-natal causes of delayed walking?
1. birth trauma 2. fetal distress 3. hyoglycaemia
208
what are 3 post-natal causes of delayed walking?
1. trauma/interventricular haemorrhage 2. hypoxia 3. meningoencephalitis
209
what are 2 investigations that should be arranged for a child with delayed walking?
1. hip x-ray | 2. creatine kinase
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what main conditions should be excluded in a child with delayed walking?
cerebral palsy
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how do you define cerebral palsy?
a chronic disorder of posture and movement caused by a non-progressive CNS lesion sustained before 2yrs
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what are 5 signs of cerebral palsy?
1. weakness 2. paralysis 3. delayed milestones 4. seizures 5. language/speech problems
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what are the 4 main types of cerebral palsy?
1. spastic 2. dyskinetic 3. ataxic 4. mixed
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what type of lesion does spasticity in cerebral palsy suggest?
a pyramidal lesion
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what type of lesion does dystonic (involuntary) movements in cerebral palsy suggest?
a basal ganglia lesion
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what are 3 signs of spastic hemiplegia?
1. early development of hand preference 2. delay in walking 3. increased deep reflexes in affected limbs
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what are 2 signs of spastic diplegia?
1. both legs affected worse than the arms | 2. scissor legs
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what are 'scissor legs' with spastic hemiplegia?
1. hip flexion, adduction and internal rotation 2. knee extension 3. plantar flexion of the feet
219
what are 3 signs of spastic quadraplegia?
1. seizures 2. reduced IQ 3. swallowing difficulties
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what are 5 signs of dyskinetic cerebral palsy?
1. unwanted actions 2. poor movement flow control 3. spasticity 4. hypotonia 5. reduced hearing 6. dysarthria
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what are 2 signs of ataxic cerebral palsy?
this is an uncommon type of cerebral palsy 1. hypertonia 2. hypotonia
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how do you diagnose cerebral palsy?
1. clinical history and signs | 2. brain MRI
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how do you manage cerebral palsy?
1. occupational, physical and speech therapy 2. orthoses 3. adaptive equipment 4. treatment of comorbidities like epilepsy 5. botulinum toxin for spasticity 6. levodopa for dystonia 7. epidural cord electrostimulation
224
what is the prevalence of klinefelter's syndrome?
1-2/1000
225
what are the sex chromosomes of someone with klinefelter's syndrome?
XXY
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what are 5 signs of klinefelter's syndrome?
1. infertility 2. hypogonadism 3. gynaecomastia 4. tall stature 5. normal puberty and intelligence
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how do you diagnose klinefelter's syndrome antenatally?
1. chorionic villus sampling | 2. amniocentesis
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how do you manage klinefelter's syndrome?
1. fertility management 2. testosterone replacement 3. breast tissue removal 4. psychological support
229
what are the sex chromosomes of someone with turner's syndrome?
X
230
what are 5 signs and symptoms of turner's syndrome?
1. lymphoedema of the hands and feet 2. koilonychia (spoon nails) 3. short stature 4. neck webbing 5. wide nipples 6. coarctation 7. delayed puberty 8. ovarian dysgenesis 9. hypothyroidism 10. renal abnormalities
231
how do you diagnose turner's syndrome?
usually antenatally by detecting foetal oedema on ultrasound, but often results in early miscarriage
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how do you manage turner's syndrome?
1. growth hormone therapy | 2. oestrogen replacement
233
what is the most common genetic cause of cognitive impairment?
trisomy 21/ down's syndrome
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what are 6 signs of down's syndrome?
1. flat face/round head 2. single palmar crease 3. brushfield spots on the iris 4. epicanthic folds 5. cardiac malformations
235
what are 4 health conditions associated with down's syndrome?
1. lung problems, with reduced capacity in almost 100% 2. congenital heart disease 3. hearing loss 4. leukaemia
236
how do you diagnose down's syndrome?
1. clinical features 2. chromosomal karyotype 3. xray for intestinal atresia or dysplastic pelvis 4. nuchal thickening on US 5. amniocentesis
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what are 4 things that children with down's syndrome should be screened for periodically?
1. vision 2. hearing 3. hypothyroidism 4. coeliac disease
238
what chromosome is affected in edward's syndrome?
chromosome 18
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what are 5 signs of edward's syndrome?
1. low birth weight 2. prominent occiput 3. small mouth and chin 4. short sternum 5. cardiac and renal malformations 6. flexed overlapping fingers
240
what chromosome is affected in patau's syndrome?
chromosome 13
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what are 5 signs of patau's syndrome?
1. structural brain defects 2. scalp defects 3. small eyes 4. cleft lip and palate 5. polydactyly 6. cardiac and renal malformations
242
how do you diagnose edward's syndrome and patau's syndrome?
amniocentesis and chromosomal analysis
243
what is the prognosis of edward's syndrome and patau's syndrome?
most die in infancy
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what are 5 signs of fragile X syndrome?
1. moderate to severe learning difficulty 2. macrocephaly 3. macroorchidism 4. large everted ears 5. prominent mandible 6. mitral valve prolapse 7. long face
245
how do you diagnose fragile X syndrome?
molecular analysis of trinucleotide repeat expansion of the relevant gene
246
what is the most common form of inherited intellectual disability?
fragile X syndrome
247
what is the current life-expectancy for cystic fibrosis?
40s
248
what is the name of the defective protein in cystic fibrosis?
CF transmembrane conductance regulator / CFTR
249
what are 4 pathophysiological effects of cystic fibrosis?
1. impaired ion transport across epithelial cells 2. impaired cilia function and retention of mucopurulent secretions 3. dysregulation of inflammation 4. blocked pancreatic ducts leading to pancreatic insufficiency and malabsorption
250
in blood from the heal, what substance is raised in children with cystic fibrosis?
immunoreactive trypsinogen
251
what is the cause of death in 95% of people with cystic fibrosis?
respiratory failure
252
how do you diagnose pancreatic insufficiency in someone with cystic fibrosis?
low faecal elastase
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how do you diagnose cystic fibrosis?
1. chloride sweat test 2. spirometry for lung function 3. immunoreactive trypsinogen 4. low faecal elastase
254
how do you manage cystic fibrosis?
1. twice daily physio to clear secretions 2. physical exercise 3. pphx fluclox 4. nebulised DNase or hypertonic solution to loosen secretions 5. azithromycin to reduce exacerbations 6. lung transplant 7. high calorie diet
255
in which gender is fertility affected by cystic fibrosis?
males, absence of the vas deferens
256
what gene is affected in duchenne's muscular dystrophy?
dystrophin gene
257
what are 5 signs and symptoms of duchenne's muscular dystrophy?
1. waddling gait 2. gower's manoeuvre 3. respiratory impairment 4. cardiomyopathy 5. orthopaedic complications like contractures
258
what is gower's manoeuvre?
helps to diagnose duchenne's muscular dystrophy, when the child is going to stand, they use their hands to climb up their legs
259
what age and gender is most often affected by duchenne's muscular dystrophy?
boys aged 1-6
260
how do you diagnose duchenne's muscular dystrophy?
1. clinical presentation 2. raised creatinine kinase 3. abnormal muscle biopsy 4. prenatal screening is available
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how do you manage duchenne's muscular dystrophy?
1. maintain walking with orthoses 2. prednisolone slows decline in strength and function 3. DMARD is under development 4. gene therapy may be an option
262
what is the prognosis of duchenne's muscular dystrophy?
median age of death is 31 years old
263
what are five signs of angelman's syndrome?
1. severe developmental delay 2. ataxia 3. speech impairment 4. excessive laughter and smiling 5. arm flapping
264
what are 5 signs of prader-willi syndrome?
1. hypotonia 2. faltering growth in infancy 3. obesity 4. learning difficulties 5. hypogonadism
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what are 5 signs of noonan syndrome?
1. mild learning difficulties 2. short webbed neck 3. pectus excavatum 4. short stature 5. congenital heart disease
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what are 3 signs of william's syndrome
1. short stature 2. congenital heart disease 3. mild to moderate learning difficulties
267
what substance is deficient in neonatal respiratory distress syndrome?
surfactant in the lungs
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what is the pathophysiology of respiratory distress syndrome?
widespread alveolar collapse and inadequate gas exchange due to deficient levels of surfactant
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at what degree of preterm should you consider the likelihood of respiratory distress syndrome?
<28 weeks
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what are 4 signs of respiratory distress syndrome?
1. tachypnoea >60 2. chest wall recession 3. expiratory grunting 4. cyanosis
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how do you manage respiratory distress syndrome?
1. raised ambient oxygen 2. surfactant therapy 3. CPAP
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what complication occurs in 10% of neonates ventilated for respiratory distress syndrome?
pneumothorax
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what are 5 causes of apnoea, bradycardia and desaturation in infants up to 32 weeks?
1. hypoxia 2. infection 3. anaemia 4. electrolyte disturbance 5. hypoglycaemia
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how do you treat apnoea, bradycardia and desaturation in infants up to 32 weeks?
caffeine and CPAP
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infants who have oxygen requirements after 36 weeks are described as having what condition?
bronchopulmonary dysplasia
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what are 4 causes of bronchopulmonary dysplasia?
1. delay in maturation 2. pressure/volume trauma 3. artificial ventilation 4. oxygen toxicity
277
what is meconium aspiration syndrome?
respiratory distress due to inhalation of meconium in utero
278
what are 4 signs of meconium aspiration syndrome?
1. tachypnoea>60 2. chest wall recession 3. expiratory grunting 4. cyanosis
279
how do you treat meconium aspiration syndrome?
1. resuscitation | 2. suction of nasopharynx and oropharynx with vision using a laryngoscope
280
what are 4 causes of hypoxic-ischaemic encephalopathy?
events in labour such as- 1. interruption of umbilical flow 2. inadequate placental perfusion 3. compromised foetus 4. failure to breathe at birth
281
what are 3 signs of hypoxic ischaemic encephalopathy?
1. seizures 2. weak cry 3. low apgar scores
282
how do you manage hypoxic ischaemic encephalopathy?
1. respiratory support 2. treatment for seizures 3. fluid restriction 4. treatment of hypotension 5. hypoglycaemia monitoring 6. full recovery is possible if hypoxia is mild
283
which abnormal test shows that there is a chance of cerebral palsy following hypoxic ischaemic encephalopathy?
MRI at 5-14 days
284
what are 4 signs of perinatal toxoplasmosis?
1. retinopathy 2. cerebral calcification 3. hydrocephalus 4. asymptomatic 5. neurological disability
285
how do you treat toxoplasmosis?
1. pyrimethamine, sulfadiazine and leucovorin | 2. prednisolone adjunct
286
what % of newborns become jaundiced due to physiological release of haemoglobin from red blood cells?
50%
287
what are 3 causes of neonatal jaundice?
1. congenital infection 2. dehydration 3. bruising/ polycythaemia
288
where on the body does neonatal jaundice tend to start?
the head and the face
289
how do you diagnose neonatal jaundice?
1. clinical presentation | 2. bilirubin levels
290
how do you manage neonatal jaundice?
phototherapy or exchange transfusion
291
what is kernicterus?
encephalopathy due to deposition of unconjugated bilirubin in the basal ganglia and the brainstem nuclei
292
what are 2 signs of kernicterus?
1. lethargy | 2. poor feeding
293
what are 3 potential complications of kernicterus?
1. choreoathetoid cerebral palsy 2. learning difficulties 3. sensorineural deafness
294
what are 4 signs/symptoms of necrotising enterocolitis?
1. feed intolerance 2. bile stained vomit 3. distended abdomen 4. stool containing blood
295
what emergency can necrotising enterocolitis progress to?
bowel perforation
296
how do you manage necrotising enterocolitis?
1. stop oral feeding 2. give broad spectrum antibiotics EG cefotaxime and vancomycin 3. parenteral nutrition
297
what is the chief risk factor for necrotising enterocolitis?
prematurity
298
what is the mortality of necrotising enterocolitis?
20%
299
what is gastroschisis?
a condition where bowel protrudes through a defect in the anterior abdominal wall
300
how do you diagnose gastroschisis?
antenatal ultrasound diagnosis
301
how do you manage gastroschisis?
1. cover exposed bowel in clingfilm 2. keep the baby warm and hydrated, IV fluids 3. surgical closure of the defect
302
what is oesophageal atresia?
a condition where the oesophagus ends in a blind pouch rather than connecting to the stomach
303
what are 2 prenatal signs of oesophageal atresia?
1. polyhydramnios | 2. small stomach
304
what are 4 postnatal signs of oesophageal atresia?
1. cough 2. airway obstruction 3. increased secretions 4. distended abdomen 5. cyanosis 6. aspirations
305
how do you diagnose oesophageal atresia?
1. abdominal x-ray | 2. failure to pass a catheter into the stomach, with x-rays showing it coiled in the oesophagus
306
how do you treat oesophageal atresia?
1. stop feeding and suction the oesophageal pouch | 2. surgery
307
what are 4 risks for developing hypoglycaemia in a neonate?
1. IUGR- intra uterine growth restriction 2. preterm 3. maternal diabetes mellitus 4. large for date 5. polycythaemic
308
what are 5 signs/symptoms of hypoglycaemia?
1. irritability 2. apnoea 3. lethargy 4. drowsiness 5. seizures
309
how do you diagnose hypoglycaemia?
blood glucose test less than 2.6
310
how do you treat hypoglycaemia?
1. IV glucose | 2. glucagon if there is no response to IV glucose
311
what are 3 signs/symptoms of group B strep infection?
1. early onset sepsis 2. respiratory distress 3. pneumonia
312
what are 4 risks associated with group B strep infection in neonates?
1. preterm 2. prolonged rupture of membranes 3. maternal fever or chorioamnionitis 4. infection of previous infant
313
how do you manage group B strep infection?
IV antibiotics
314
what are 3 foods/drinks that can give the mother listeria?
1. unpasteurised milk 2. soft cheeses 3. undercooked poultry
315
what are 3 complications of listeria?
1. spontaneous abortion 2. pre-term delivery 3. neonatal sepsis
316
what are 5 signs/symptoms of herpes encephalitis?
1. fever 2. fits 3. headaches 4. odd behaviour 5. dysphasia
317
how do you diagnose herpes encephalitis?
1. urgent pcr of csf | 2. ct/mri non-specific temporal lobe changes
318
how do you manage herpes encephalitis?
prompt aciclovir
319
what is the physiology of a cleft lip?
failure of fusion of frontonasal and maxillary processes
320
what is the physiology of a cleft palate?
failure of fusion of palatine processes and nasal septum
321
what medication taken during pregnancy can lead to cleft lip/palate?
anticonvulsants
322
how do you manage cleft lip/ cleft palate?
1. surgical repair of cleft lip at 3 months 2. surgical repair of cleft palate at 6-12 months 3. specialist feeding devices
323
what condition is common secondary to cleft lip/palate?
otitis media
324
what are the developmental milestones that should be reached at 6 weeks?
1. smiles | 2. follow eyes past midline
325
what are the developmental milestones that should be reached at 4-6 months?
1. sitting without support 2. rolling 3. reaching for objects 4. babbling
326
what are the developmental milestones that should be reached at 6-9 months?
1. crawling 2. pulling to stand 3. responds to name 4. gestures 5. first tooth
327
what are the developmental milestones that should be reached at 7-12 months?
1. pincer grasp 2. walks with hand held 3. waves goodbye
328
what are the developmental milestones that should be reached at 12-15 months?
1. single words 2. active listening 3. drinking from a cup
329
what are the developmental milestones that should be reached at 18 months?
1. speaks 6 words 2. able to walk up steps 3. independent walking 4. scribbling and using building blocks
330
what are the developmental milestones that should be reached at 1.5-2 years?
1. kicks/throws balls 2. runs 3. 2 word sentences 4. follows 2 step commands 5. uses a spoon 6. helps with dressing
331
what vaccinations should a child have at the age of 8 weeks?
1. 6 in 1 2. rotavirus 3. menb
332
what vaccinations should a child have at the age of 12 weeks?
1. 6 in 1 2. pcv 3. rotavirus
333
what vaccinations should a child have at the age of 16 weeks?
1. 6 in 1 | 2. menb
334
what vaccinations should a child have at the age of 1 year?
1. hib/menc 2. mmr 3. pcv 4. menb
335
what vaccinations should a child have at the age of 2-10 years?
flu vaccine
336
what vaccinations should a child have at the age of 3 years and 4 months?
1. mmr | 2. 4 in 1 preschool booster
337
what vaccinations should a child have at the age of 12-13?
hpv vaccine
338
what vaccinations should a child have at the age of 14?
1. 3 in 1 teenage booster | 2. menacwy