Paediatric Common Conditions 1 Flashcards
What is achondroplasia?
Achondroplasia is an autosomal dominant disorder associated with short stature
mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene
This results in abnormal cartilage giving rise to:
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
What is acute epiglottitis? Presentation?
rare but serious infection caused by Haemophilus influenzae type B
Causes inflammation of the epiglottis
Features:
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
‘tripod’ position
How can acute epiglottitis be diagnosed?
direct visualisation (only by senior/airway trained staff)
x-rays may be done, particularly if there is concern about a foreign body:
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
PA view in croup will show subglottic narrowing, commonly called the ‘steeple sign’
How can acute epiglottitis be managed?
immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT)
endotracheal intubation may be necessary to protect the airway
if suspected do NOT examine the throat due to the risk of acute airway obstruction
(the diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary)
oxygen, IV antibiotics (ceftriaxone) , dexamethasone
What is the main complication to be aware of with epiglottitis?
epiglottic abscess, which is a collection of pus around the epiglottis
What is the most common malignancy affecting children?
Acute lymphoblastic leukaemia ( ALL)
How does ALL present?
anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae
Poor prognostic factors in ALL?
age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex
What are the key differentials for acute scrotal pain in children?
Testicular torsion - Most common around puberty
Irreducible inguinal hernia - Most common in children < 2 years old
Epididymitis - Rare in prepubescent children
Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin.
Clinical severity depends on the number of alpha globulin alleles affected:
1/ 2 alpha globulin alleles affected = hypochromic and microcytic, Hb level is typically normal
3 alpha globulin alleles affected = hypochromic microcytic anaemia with splenomegaly, Hb H disease
If all 4 alpha globulin alleles are affected (i.e. homozygote) = death in utero (hydrops fetalis)
The Apgar score is used to assess the health of a newborn baby. At what times should it be used?
at 1, and 5 minutes of age
If the score is low then it is again repeated at 10 minutes
What are the APGAR criteria?
What are the normal values?
Activity (muscle tone)
Pulse
Grimace (reflex irritability)
Appearance (skin colour)
Respiratory effort
score of 0-3 is very low, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
How would you score activity (muscle tone) in the APGAR assessment?
active movement = 2
limb flexion = 1
flaccid = 0
How would you score pulse in the APGAR assessment?
> 100 = 2
< 100 = 1
absent = 0
How would you score grimace (reflex irritability) in the APGAR assessment?
Cries on stimulation/sneezes, coughs = 2
Grimace = 1
Nil = 0
How would you score appearance (skin colour) in the APGAR assessment?
pink = 2
body pink, extremities blue = 1
blue all over = 0
How would you score respiratory effort in the APGAR assessment?
strong, crying = 2
weak, irregular = 1
nil = 0
Which children with appendicitis are more likely to present atypically?
Children who are younger or have a retrocaecal/pelvic appendix
Appendicitis is uncommon in children under 4 years old but in this group often presents with perforation
What is classified as a severe asthma attack in children?
SpO2 < 92%
PEF 33-50% best or predicted
Too breathless to talk or feed
Heart rate
>125 (>5 years)
>140 (1-5 years)
Respiratory rate
>30 breaths/min (>5 years)
>40 (1-5 years)
Use of accessory neck muscles
What is classified as a life threatening asthma attack in children?
SpO2 <92%
PEF <33% best or predicted
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
Children with severe or life threatening asthma should be transferred immediately to hospital. Which children should you measure PEF in?
Children over 5
How should children with mild to moderate acute asthma be managed?
Bronchodilator therapy:
give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
give 1 puff every 30-60 seconds up to a maximum of 10 puffs
if symptoms are not controlled repeat and refer to hospital
Steroid therapy:
should be given to all children with an asthma exacerbation
treatment should be given for 3-5 days
What dose of prednisolone is given in kids with acute asthma?
1-2 mg/kg od (max 40mg)
OR
2 - 5 years = 20 mg od
> 5 years = 30 - 40 mg od
How should newly diagnosed asthma v newly diagnosed asthma with symptoms >= 3 / week or night-time waking be managed?
Newly diagnosed asthma = SABA
More symptomatic = SABA + paediatric low-dose inhaled corticosteroid (ICS)
What is the stepladder of mx for asthma in kids?
SABA
SABA + paediatric low-dose inhaled corticosteroid (ICS)
SABA + paediatric low-dose ICS + LTRA
SABA + paediatric low-dose ICS + LABA
In contrast to the adult guidance, NICE recommend stopping the LTRA at this point if it hasn’t helped
SABA + switch ICS/LABA for a maintenance and reliever therapy (MART)
What is Maintenance and reliever therapy (MART) ?
a form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required
What is considered as a low dose ICS in kids?
<= 200 micrograms budesonide or equivalent
What is the stepladder for asthma mx in children under 5 years?
SABA
SABA + an 8-week trial of paediatric MODERATE-dose ICS
After 8-weeks stop the ICS and monitor the child’s symptoms:
if symptoms reoccur within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
if symptoms reoccur beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
SABA + paediatric low-dose ICS + LTRA
Referral for specialist assessment
What is ADHD?
Attention deficit hyperactivity disorder
a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent
Give some features that might suggest “hyperactivity” ( ADHD criteria)
Unable to play quietly
Talks excessively
Does not wait their turn easily
Will spontaneously leave their seat when expected to sit
Is often ‘on the go’
Often interruptive or intrusive to others
Will answer prematurely, before a question has been finished
Will run and climb in situations where it is not appropriate
How can ADHD be managed?
ten-week ‘watch and wait’ period following presentation
Secondary care referral if sxs continue
Drug therapy should as a last resort and is only available to those aged 5 years +
Methylphenidate is first line and should initially be given on a 6 week trial basis
Dexamfetamine and Atomoxetine are also available
What is Methylphenidate’s mechanism of action? ADRs? How should patients be monitored?
CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor
ADRs: abdominal pain, nausea and dyspepsia
In children, weight and height should be monitored every 6 months
ECG before starting as cardiotoxic
What is autism?
a neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities.
three to four times more common in boys than girls
typically evident before 2–3 years of age
What clinical features may autism present with?
Impaired social communication and interaction:
- Children frequently play alone and maybe relatively uninterested in being with other children
- may fail to regulate social interaction with nonverbal cues like eye gaze, facial expression, and gestures
- Fail to form and maintain appropriate relationships and become socially isolated
Repetitive behaviours, interests, and activities:
- Stereotyped and repetitive motor mannerisms, inflexible adherence to nonfunctional routines or rituals
- particular ways of going about everyday activities
ASD is often associated with intellectual impairment or language impairment
How can Autism spectrum disorder be managed?
Early educational and behavioural interventions
SSRIs: reduce symptoms like repetitive stereotyped behaviour, anxiety, and aggression
Antipsychotic drugs: reduce symptoms like aggression, self-injury
Methylphenidate: for associated ADHD
Family support and counselling
What is Benign rolandic epilepsy?
form of childhood epilepsy that typically occurs between the age of 4 and 12 years
Features:
seizures characteristically occur at night
seizures are typically partial (e.g. paraesthesia affecting the face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)
the child is otherwise normal
Excellent prognosis; seizures usually stop by adolescence
What is biliary atresia?
obliteration or discontinuity within the extrahepatic biliary system, which results in an obstruction in the flow of bile = neonatal cholestasis in first few weeks of life
What are the 3 types of biliary atresia?
Type 1: obliteration of the common bile duct
Type 2a : obliteration of the common hepatic duct
Type 2b: obliteration of the common bile duct, cystic duct, and hepatic duct
Type 3: obliteration of the common bile duct, cystic duct, and hepatic duct up to the level of the porta hepatis (90% of cases)
Biliary atresia presents in the first few weeks of life with what symptoms and signs ?
Jaundice extending beyond the physiological two weeks
Dark urine and pale stools
Appetite and growth disturbance, (however, may be normal in some cases)
Hepatomegaly with splenomegaly
Cardiac murmurs if associated cardiac abnormalities present
How should biliary atresia be investigated?
Serum bilirubin : Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
LFTs including serum bile acids and aminotransferases : usually raised but cannot differentiate causes of neonatal cholestasis
Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
Sweat chloride test: check for CF
Ultrasound of the biliary tree and liver: May show distension and tract abnormalities
