Paediatrics 1 Flashcards
What does ‘ADHD’ stand for?
Attention Deficit Hyperactivity Disorder
What are the 3 core behaviours of a person with ADHD?
- Hyperactivity
- Inattention
- Impulsivity
when they are persistent and impact on daily functions.
Which diagnostic tool is used for ADHD?
DSM-V
Diagnostic Statistical Manual 5
A child may have inattentive / hyperactive / impulsive symptoms. When might ADHD be considered in this situation?
- If symptoms were present before 12 years old
- Developmentally inappropriate
- Several symptoms are exhibited in 2 or more settings
Describe ‘inattention’ as applied to ADHD.
- Easily distracted
- Forgetful in daily activities
- Finds it difficult to organise task + activities
- Does not appear to be listening when spoken to directly
Describe ‘hyperactivity’ as applied to ADHD.
- Cannot remain seated
- Talks excessively
Describe ‘impulsivity’ as applied to ADHD.
- Injuries :(
- Difficulty awaiting turn
What are the demographics of children affected by ADHD?
4 - 7 % of school age children
Male : Female = 4:1
Why might ADHD patients be considered to be immature for their age?
- Brain maturation takes a third longer in ADHD patients than non-ADHD patients.
- Counsel patient + parents -> emotional immaturity
In some adults diagnosed with anxiety / depression, what underlying condition might they have?
ADHD.
On assessment of a child for ?ADHD, what should happen?
- Paediatric History -> risk factors, social history
- ADHD nurse Classroom Observation
- Questionnaires: Connor’s questionnaire, SNAP
- Quantitative Behavioural Test: look for impulsivity, inattention
What factors might predispose someone to ADHD?
- Genetic factors
- Environmental factors
> early abusive experience
> in utero -> drug exposure
What is the treatment for ADHD?
- Education
- ADHD parenting programme for primary + secondary school children
- School support + liaison
- Targeted Family Hx of Cardiac disease (Meds may affect the heart)
What medical treatment might be given to someone with ADHD?
- Stimulants:
- Methylphenidate
- Lisdexamphetamine - Non-stimulants
What factors are affected by Autism Spectrum Disorders?
- Communication
- Social interaction
- Behaviour / Poor imagination / Rigidity
What communication difficulties might someone with autism experience?
- Lack of desire to communicate at all
- Communicating needs only
- Disordered or delayed language
- Repeats speech / echolalia
- Good language, but no social awareness
What social interaction difficulties might someone with autism experience?
- No desire to interact with others
- No understanding of unspoken social rules
- Limited interaction with unfamiliar people in unfamiliar circumstances
People with autism have difficulties with imagination / rigidity of thought. Give examples.
- Use toys as objects
- Inability to play or write imaginatively.
- Resist change
- Playing the same game over and over
- Obsessions / Rituals
- Asks same question even when answered.
- inability to see others point of view
What is the treatment for autism?
- No medication
- Education: promote verbal communication / use pictures
Haematopoiesis is the production of blood cells. Where is the predominant source of haematopoiesis i) at birth ii) in childhood?
i) All bone marrow cavities are actively haematopoietic.
ii) Haematopoiesis moves to central bones in childhood (vertebrae, sternum, ribs, pelvis)
What are the 3 mechanisms by which anaemia can be caused?
- Decreased RBC production
- Increased RBC consumption
- Increased RBC loss
What are the 3 forms of anaemia?
- Microcytic
- Microcytic
- Normocytic
What is the aetiology of anaemias?
- Congenital
- Acquired
What are the 2 colours by which RBC are classified if anaemia is suspected?
- Hypochromic
- Normochromic
With regards to Anaemia, if the reticulocyte count is low, what does this indicate?
- Lack of production
With regards to Anaemia, If the reticulocyte count is high, what does this indicate?
Haemolysis / blood loss
Severe anaemia may be present at birth. Give 3 causes of this.
- Haemolytic disease of the newborn
- Bleeding:
> umbilical cord
> internal haemorrhage
What is ‘Erythroblastosis fetalis’?
- Rh -ve mother previously sensitised to Rh +ve cells
- Transplacental passage of antibodies
- Haemolysis of Rh +ve fetal cells
What are the signs and symptoms of Erythroblastosis fetalis?
- Severe anaemia
- Compensatory hyperplasia + enlargement of blood forming organs (spleen + liver)
What is the treatment for Erythroblastosis fetalis?
- Prevention of sensitisation with Rh immune globulin
- Intrauterine transfusion of affected foetuses.
Describe the pathophysiology of ‘Physiologic Anaemia of the Newborn’.
- Fall in Hb from birth
- Decreased RBC production
- Plasma dilution associated with increasing blood volume
- Shorter lifespan on neonatal RBCs (50-70 days)
- More fragile RBCs
- Switch from HbF (fetal) to HbA (adult)
Describe the pathophysiology of ‘Anaemia of Prematurity’.
- Low birth weight infants show a poor erythropoietin (epo) response.
- Protein content of breast milk may not be sufficient for haematopoiesis in the premature infant.
- Hb rapidly declines after birth to a low of 7-10g/dl at 6 weeks of age.
What are the signs and symptoms of Anaemia of Prematurity?
- apnoea
- poor weight gain
- pallor
- decreased activity
- tachycardia
Why might a newborn have iron deficiency anaemia?
- Poor intake + increased requirement
- Breast feeding + infection
- Iron from vegetables is poorly absorbed
Which is the most common anaemia in childhood?
Iron deficiency anaemia
What factors increase an infant’s risk of having iron deficiency anaemia?
- Low birth weight
- Dietary: excessive cow’s milk intake
- Occult GI bleeding
- Cow’s milk intolerance
How might an infant with iron deficiency anaemia present?
- Pallor
- Irritability
- Anorexia when Hb < 50
- Tachycardia
- Cardiac dilatation
- Murmur
- (possible) Splenomegaly
Describe what you’d see on a slide if a child had iron deficiency anaemia.
- Microcytic
- Hypochromic
- Low / Normal Reticulocytes
What would you see on the blood results of a child with iron deficiency anaemia?
- Low ferritin
- Low serum iron
- Increased TIBC (Total Iron Binding Capacity)
What is the treatment for iron deficiency?
ORAL THERAPY
- 6mg/kg/day of elemental iron
- 3-6 months
- Constipation is common
- Commonest cause of failure is non-compliance
What is the pathophysiology behind haemolysis?
- Increased RBC turnover, shorted RBC lifespan
- RBC are fragile (esp. abnormal ones)
- Spleen filters out + breaks down senescent RBC
- > spleen works ‘overtime’ and this results in asplenia (in sickle cell)
- RBC degradation products must be handled
List 3 intra corpuscular reasons for destruction of RBC.
- Haemoglobin
- Enzyme
- Membrane
List 4 extra corpuscular reasons for destruction of RBC.
- Autoimmune
- Fragmentation
- Hypersplenism
- Plasma factors
What factors lead to iron overload + what can be done about this?
- Long term haemolysis and/or transfusions lead to iron overload, which affects all organs.
- Ferritin to monitor + imaging
- Chelation when necessary
How is Sickle Cell Disease detected?
- Family History is key!
- Neonatal screening by Hb electrophoresis
If a baby is diagnosed with Sickle Cell disease, what should be the next steps in managing that child?
- Follow up by a specialist
- Vaccinations: pneumococcal, influenza, meningococcal -> functional asplenia = high risk for sepsis
- Prophylactic penicillin: greatly decreased mortality rates due to sepsis.
What problems might be associated with Sickle Cell Disease?
- Anaemia
- Infarction -> pain crises, strokes
- Infection / sepsis -> asplenia from filtering abnormal RBCs
- Splenic sequestration
- Acute chest (infection / infarction)
- Aplastic crisis
- Iron overload
- Stem cell transplantation = curative, if good donor is found
What are the Hb, Reticulocyte, WBC values in a person with Sickle Cell Disease?
- Low Hb
- Increased Reticulocyte count
- Elevated WBC (this increases with vaso-occlusive events)
You suspect your sickle cell disease patient has an infection. What should you do?
- patient should seek help for ANY fever
- seek source, blood cultures, CXR
- IV fluids, antipyretics
- Hospitalize for any pneumonia
- Outpatient if not toxic, reliable family, follow up of cultures
Describe the pain associated with Sickle Cell Disease.
- Frequent occurrence.
Treat mild with paracetamol + NSAIDs
Patient and family know pain patterns
Trust the patient + family -> treat the pain - Fluids, pain control -> may need intranasal / IV morphine
- Oxygen, if needed.
What are the signs of acute chest syndrome (infection or infarction) in someone with Sickle Cell Disease?
What is the treatment?
- Pain crisis
- Hypoxia
- Fever
- Neurological manifestations
Treatment:
- Aggressive physiotherapy / spirometry
- Transfusion, IV fluids (but avoid overload), Oxygen, Antibiotics
What medication / management might be used for patients with Sickle Cell Disease?
- Hydroxycarbamide
- increased the Hb which carries O2 at lower O2 tension
- Good efficacy, but teratogenic effects in pregnancy - Transfusion programmes
- Prevent strokes for those at highest risk - Stem Cell Transplants
- patients with multiple strokes, frequent crises,
Describe the pathophysiology behind Thalassaemia.
- Reduced globin chain synthesis.
Normal: alpha 2, beta 2 Beta-thalassaemia: HbF and HbA2 Alpha-thalassaemia: - 4 alleles - Loss 1 or 2 = asymptomatic - Loss 3 or 4 -> alpha-thalassaemia major
Describe the symptoms & blood film of beta-thalassaemia minor.
- Asymptomatic
- Mild anaemia
- Low MCV (Mean cell volume)
- Raised Hb A2
What signs + symptoms would be displayed by someone with beta-thalassaemia major?
- Progressive severe anaemia, Low MCV, HbF + HbA2 increased
- Jaundice
- Splenomegaly
- Failure to thrive
- Skeletal deformity
- Delayed puberty
- Death early teens / adulthood
Describe the management of beta-thalassaemia.
- Genetic counselling
- Regular blood transfusion
- Complications of iron overload
> liver, heart, pancreas, endocrinopathy
> iron chelation - Bone marrow transplantation
How might the haemolytic anaemias present?
- Hydrops fetalis
- Neonatal hyperbilirubinaemia
- Neonatal ascites
- Splenomegaly
How might G6PD deficiency present clinically?
Three main presentations:
- Neonatal jaundice
- Chronic non-spherocytic haemolytic anaemia
- Intermittent episodes of intravascular haemolysis
What is the pattern of inheritance of Hereditary Spherocytosis?
What are the clinical effects of this disease?
- Typically Autosomal Dominant BUT no family history in 25% of cases
- Clinical effects vary from mild to transfusion dependence; tends to be similar within families.
Give 4 examples of bone marrow failure
- Pure red cell aplasia
- Bone marrow failure syndromes
- Acquired aplastic anaemia
- Bone marrow infiltration
List some physical anomalies seen in Diamond Blackfan anaemia.
- Cranio-Facial
- Thumb (10-20%)
- Deafness
- MSK
- Renal
- Cardiac
- Growth retardation
What 3 things are required for haemostasis?
- Platelets
- Coagulation factors
- Vascular integrity
What is the most common form of immunologic thrombocytopenia?
- Idiopathic thrombocytopenic purpura (ITP)
Describe the onset + course of Idiopathic thrombocytopenic purpura.
- Acute + chronic, acute often following viral illness
- Petechiae on dependent extremities is main expression in childhood ITP
- Chronic may have associated bleeding eg. nose, GI etc.
Summarise the disease course of ITP.
- Usually young children
- Post-viral
- Recover spontaneously
- Rarely dangerous, but looks dramatic
- Nothing else abnormal
- Treatment rarely indicated.
What is meant by a ‘coagulopathy’?
- Errors in the clotting cascade
Give examples of coagulopathies.
- Bleeding disorders:
- Haemophilia
- Von Willebrand Disease - Hypercoagulable states
- Antithrombin
- Protein C
- Protein S
Explain the pathophysiology of Von Willebrand Disease.
- Bleeding disorder caused by an abnormality of vWF, a carrier protein for Factor VIII.
- vWF binds on platelets to its specific receptor glycoprotein Ib and acts as an adhesive bridge between the platelets and damaged sub endothelium at the site of vascular injury
- vWF also protects Factor VIII from degradation
What types of Von Willebrand disease are there?
Type 1
Type 2A , 2B
Type 3 - most severe
What is the pattern of inheritance of Type 1 von Willebrand disease?
- Autosomal dominant, variable penetrance
- generally mild, can be asymptomatic
What is the pattern of inheritance of Type 3 von Willebrand disease?
- Autosomal Recessive -> consanguinity an issue
- Low vWF and Factor VIII in plasma. vWF absent on platelets.
What investigations should you order if you suspected von Willebrand disease?
What results would you expect?
- Clotting screen: normal or APTT increased
- vWF and Factor VIII variably decreased
How should von Willebrand disease be managed?
- For bleeds / surgery
- Tranexamic acid
- DDAVP (Desmopressin) usually increases vWF and Factor VIII.
- Factor VIII / vWF plasma concentrates for severe
If a patient has Haemophilia A or B, which Factor are they deficient in?
VIII / XI
What is the inheritance pattern of haemophilia A?
Factor VIII -> X linked
Carriers can be difficult to identify due to lyonization.
What signs indicate haemophilia A?
- Prolonged bleeding
- Muscle bleeds
- Joint bleeds -> leads to arthritis + deformity
What is the treatment for Haemophilia?
Factor VIII / IX
How might a neonate present with haemophilia?
- Family Hx
- Intracranial Cerebral Haemorrhage
- Iatrogenic bleeding
- Umbilical cord bleeding
How might haemophilia present in early childhood?
- Classically <2years once mobile
- Easy bruising / soft tissue haematomas
- Mouth bleeds -> often trauma related
- Muscle / joint bleeds
How might moderate / mild haemophilia present?
- May present later
> following trauma
> bleeding with surgery / dental extractions
Cell multiplication is usually tightly controlled. What happens to the cells when leukaemia is present?
- Leukaemia occurs when a white blood cell starts multiplying out of control.
Which is the most common paediatric leukaemia?
ALL (85%)
List some symptoms seen with leukaemia
- Anaemia
- Infection
- Bleeding
- Systemic symptoms
- Organ infiltration
Describe the course of symptoms in a child with leukaemia.
- 2/3 will have had symptoms for <4 weeks
- May have had a more non-specific prodrome of up to several months
What would the blood results show in a child with ALL?
Blood count:
- Anaemia
- WCC up or down
- Neutropenia
- Thrombocytopenia
- Blast cells
Describe the demographics of Acute Lymphoblastic Leukaemia
- Most common malignancy
- Peak age: 4-7 years
- Prognosis: 80% cure
What are good prognostic factors for ALL?
- Age 2 - 10
- Female
- WCC < 50
- No CNS disease
Describe the treatment pathway for ALL.
- Induction
- Consolidation + CNS treatment
- Intensification
- Maintenance
> Girls 2 yrs
> Boys 3 yrs (can remain dormant in testicles).
What are the late effects of leukaemia treatment?
- Psychological
- Family + social
- Growth (particularly CNS retardation)
- Endocrine
- Puberty
- Fertility
- Intellectual
- Second malignancies
Give some examples of chronic illnesses in children
- Asthma
- Allergies
- Cancer
- Cystic Fibrosis
- Diabetes
- Epilepsy
- Inflammatory bowel disease
- JIA
What are the challenges for patients with bone and/or joint pains or joint swelling?
- Establishing the diagnosis
- School
- Sports + exercise
- Response to initial treatment
- Access to MDT / therapies
What are the implications for the child when diagnosed with a chronic illness?
- Daily medical treatment
- Special education
- Social services
- Limitations in daily activities
- Development
- Feeding
- Speech
- Surgery needs
- Separation / hospitalisation
What are the implications for the parents + family when their child is diagnosed with a chronic illness?
- Mourning
- Shame
- Rejection + anger at child
- responsibilities + worries
- these demands can take over family life
Give examples of health risk behaviours in adolescence.
- Experimental behaviour -> necessary in cognitive development
- Ill young people are more likely to engage in risks.
- Non-adherence
- Drug + alcohol problems
What are the issues people might face during the transition period (from paediatric care to adult care)?
- Children are initially well cared for under paediatric services
- Paediatricians (generally) become less confident in managing adolescents
- Adolescents don’t find a natural ‘home’ within health care systems.
- Transfer of care happens when the patient is particularly vulnerable.
What are the key elements of transitional care?
- A key worker
- Written transition policy
- Written individualised healthcare transition plan
- Flexible policy on timing
- Medical summary
- Training programme for professionals
- Education programme: patient + parents
- Development of patient’s skills.
What is the pneumonic to help remember questions to ask adolescents?
HEADDSS
- Home
- Education
- Activities
- Drugs + Alcohol
- Depression + Suicide
- Sexual Health
- Spirituality / Sleep / Something else
List some causes of limp in a child under 4 years old.
- Toddler’s fracture / Non-accidental injury
- Osteomyelitis or septic arthritis
- Developmental dysplasia of the hip.
List some causes of limp in a child aged 4 - 10 years old.
- Trauma
- Transient synovitis / irritable hip
- Osteomyelitis or septic arthritis
- Perthes disease
List some causes of limp in a child over 10 years old.
- Trauma
- Osteomyelitis or septic arthritis
- SUFE (Slipped Upper Femoral Epiphysis)
- Chondromalacia
- Perthes’ disease
A child presents with a limp. Where could the source of the problem lie?
- Hip
- Thigh
- Knee
- Leg
- Foot
A child presents to clinic with a limp. What key questions should you ask?
- Duration + progression of limp
- Recent trauma + mechanism
- Associated pain + characteristics?
- Accompanying weakness?
- Time of day when limp is worse?
- Can the child walk or bear weight?
- Presence of systemic symptoms? -> fever, weight loss