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
On examination of a child with a limp, what should you be looking for?
- Pain or stiffness in joints / back?
- Gait / general: temp, observe gait including on tiptoes + heels
- Legs: knee effusion: ‘bend + straighten your knee’
=> crepitus?
=> internal rotation of the hip - Spine: observe from behind
- Observe curve of spine from side + behind.
What are the fundamental principles behind a joint examination?
Look
Feel
Move
On examining a child’s joint, what should you look for?
- Feverish?
- Can they stand?
- Deformity, erythema?
- Limitation of motion?
- Shoes: unusual wear on soles, asymmetry
- Older children: scoliosis, midline dimples, hairy patches (? spinal pathology)
On examining a child’s joint, what should you feel for?
- Warmth, fluctuance, palpable masses, stiffness, focal tenderness
- Assess thigh / calf circumference if asymmetry -> suggests atrophy
On examining a child’s joint, how should you assess the joint movement?
- Assess ROM, laxity, pain
- Assess gain with the child barefoot
- Any discomfort as the child bends down
- Hips: move normally? Internally rotate symmetrically, no pain?
What 2 things might present as a limp, but are essential not to miss?
- Intra-abdominal pathology
- Testicular torsion
If a child’s joint pathology is suspected to be due to trauma, what investigation should you order?
- Plain xray
- Anteroposterior and lateral views are indicated
What is the aetiology of a toddler’s fracture?
- Subtle undisplaced spiral fracture of the tibia
- usually pre-school
- sudden twist after an unwitnessed fall.
How should you manage a toddler’s fracture?
- Immobilise
- Expectant management
Describe the aetiology of transient synovitis.
- Acute onset
- Affects young children
- Most common cause of hip pain in young children aged 3 - 10
- Usually unilateral
- May refuse to walk / limp
What is the treatment for transient synovitis?
- Rest
- Physio
- NSAIDs are useful, can shorten the duration of symptoms in children, usually resolves within 2 weeks,
Describe the aetiology of septic arthritis.
- Most often hip, knee, ankle, shoulder, elbow
- Most often in children <2 years
How might a child with septic arthritis present?
- Early features = non-specific
- Child often very unwell
- Pain often present at rest, resistance to attempted movement of the hip
- Older children usually reluctant to weight bear => may be more aware of referred pain in the knee
=> hip is kept flexed, abducted + externally rotated.
What investigations should you do if you suspect Septic Arthritis? What would these investigations show?
- Blood cultures positive
- Raised WCC + CRP
- XR show delayed changes
=> bony changes not evident for 14-21 days
Which criteria is used to identify a child with septic arthritis?
Kocher’s criteria
- Fever > 38.5
- Cannot weight bear
- ESR > 40 in 1st hour
- WCC > 12
=> 3 out of 4 is gives a 93% chance that this is septic arthritis.
What is Perthes’ disease?
Self-limiting hip disorder caused by varying degrees of ischaemia and subsequent necrosis of the femoral head.
Who does Perthes’ disease tend to affect?
- Most often boys
- Aged 5 - 10 years
What factors increase the risk of having Perthes’ disease?
- Low birth weight
- Short stature
- Low socio-economic class
- Passive smoking
- disease is unilateral in 85% of cases
How might a patient with Perthes’ disease present?
- pain in hip or knee => causes a limp
- pain + effusion
- on examination, all movements at hip are limited
- No Hx of trauma
The ‘Roll test’ is used to help identify Perthes’ disease. What is this?
- With the patient lying supine, roll the hip of the affected extremity into external + internal rotation
- Should invoke guarding or spasm, especially with internal rotation.
What are the classic x-ray features of Perthes’ disease?
- Sclerosis, fragmentation + eventual flattening of the proximal femoral epiphysis
- Absent in early disesae
=> may be initially misdiagnosed as irritable hip
Give some risk factors for a child developing SUFE (Slipped upper femoral epiphysis).
Children who are:
- tall + thin OR
- short + obese
- Afro-Caribbean
SUFE is more common in boys + in those with a positive family history
How might a child with SUFE present?
- Hip, thigh + knee pain
- Initially: a several week history of vague groin or thigh discomfort
- May be able to weight bear, but it’s painful
- Flexion of hip also causes external rotation
- May see leg shortening.
What would be seen on xray if a child had been diagnosed with SUFE?
- Widening and irregularity of the plate of the femoral epiphysis
- Displacement of the epiphyseal plate is medial and superior
What is the treatment for SUFE?
- Surgical pinning of the hip is usually required.
- Should be done quickly.
List some risk factors for DDH (Developmental Dysplasia of the Hip).
- Female
- Breech position
- C-section
- 1st child
- Prematurity
- Oligohydramnios
- FHx
- Club feet, spina bifida, infantile scoliosis
What are the signs of DDH?
- Asymmetrical skin creases in the thigh or buttock
- Unequal leg length
Which 2 screening tests are used to identify DDH?
- Ortolani: assess if the hip is dislocated
- Barlow: assess whether the hip is dislocatable.
You suspect a neoplasm in a child’s hip. What features of the neoplasm should you consider?
- Primary bone / Soft tissue tumours
- Benign vs malignant
- Pain / Tenderness ?
- Palpable mass ?
What is juvenile rheumatoid arthritis?
- Autoimmune disease -> affects a single ankle or knee
What associated systemic findings might you see in a child with JIA?
- high fever
- salmon coloured pink rash
- eye inflammation
How is JIA managed?
- MDT approach
- Paediatric rheum
- Ophthalmology
- Orthopods
- Rehab specialists
- Occupational therapists
Give a definition of ‘child development’.
The biological, psychological and emotional changes that occur between birth and adolescence as the individual progresses from dependency to increasing autonomy.
Development is determined by an interplay between genetic and environmental factors
What are the 4 domains of child development?
- Gross motor
- Fine motor + vision
- Speech, language and hearing
- Social interaction + self care skills
At what age should a child be able to lift their head when placed on their tummy?
Which domain of child development is this applicable to?
3 months
Gross motor
At what age should a child be able to sit unsupported?
6 months
At what age should a child be able to pull to stand?
9 months
At what age should a child be walking?
1 year
At what age should a child be able to walk up steps?
2 years
At what age should a child be able to jump?
3 years
At what age should a child be able to grasp an object using both hands?
4 months
At what age should a child be able to scribble?
12 months
At what age should a child be able to buid a tower of 2 cubes?
18 months
At what age should a child be able to build a tower of 8 cubes?
3 years
At what age should a child start to laugh and squeal?
3 months
At what age should a child have their 1st word?
1 year
At what age should a child know their colours + be able to count 5 objects?
4 years
At what age should a child be smiling spontaneously?
6 weeks
At what age should a child be able to finger feed themselves?
6 months
At what age should a child wave bye-bye?
9 months
At what age should a child start to be using cutlery to eat with?
1 year
What is ‘The Healthy Child Programme’ designed to do?
- Encourage care that keeps children healthy + safe
- Protect children from serious diseases, through screening + immunisation
- Promote healthy eating + physical activity
- Identify problems in children’s health and development.
- Identify ‘at risk’ families for more intensive support.
Give examples of how the healthy child programme offers universal surveillance for all children.
- Neonatal examination
- New baby review
- 8 week baby checks
How might a Health Visitor assess children?
- Use developmental screening tools to assess developmental level
- Ask if parents have concerns with development
- Health + developmntal promotion advice
- Monitor growth
- Refer to paediatricians if abnormalities are detected.
What are the red flags with regards to child development?
- Regression
- Poor health / growth
- Signficant family history
- Findings on examination eg. microcephaly, dysmorphic
- Safeguarding indicators
What 3 questions are considered at the Child Developmental Assessment Clinic?
- What is the developmental concern?
- What is the cause?
- What support does the child need?
List some genetic causes of childhood developmental delay
- Chromosomal disorders eg. Down’s syndrome
- Microdeletions / microduplications
- Single gene disorders eg. Duchenne’s
- Polygenic: Autism, ADHD
List some factors in pregnancy which could cause childhood developmental delay.
- Congenital infections eg. CMV, HIV
- Exposure to drugs + alcohol
- MCA infarct => cerebral palsy
List 2 factors around birth which could cause childhood developmental delay.
- Prematurity
- Birth asphyxia
List some factors in childhood which could cause childhood developmental delay.
- Infections eg. meningitis
- Chronic ill health
- Metabolic conditions eg. storage disorders
- Acquired brain injury (accidental / non-accidental)
- Hearing impairment
- Visual impairment
List 2 environmental factors which caould cause childhood developmental delay.
- Abuse + neglect
- Low stimulation
Define ‘disability’
Children’s Act (1989)
A child is disabled if he or she is blind, deaf or dumb or suffers from mental disorder of any kind or is substantially handicapped by illness, injury or deformity.
The Disabled Person’s Act states that a person has a disability if there is physical or mental impairment preventing them going about their day-to-day tasks
List some characteristic features of a child with Down’s syndrome.
- Learning / developmental delay
- Hypotonia
- Short stature
- Congenital Heart Disease
- Epicanthic folds
- Bradycephaly
- Single palmar crease
Which genetic disorder is Down’s syndrome associated with?
Trisomy 21
What is ‘cerebral palsy’?
- A permanent, non-progressive cerebral pathology.
- Caused by damage or malformation affecting areas of the brain invovled in motor function.
List some causes of Cerebral Palsy.
- Cerebral malformation
- Hypoglycaemia
- Trauma
- Hypoxia
- Infection
- Kernicterus
- Unknown
List the 4 types of Cerebral Palsy.
- Spastic
- Athetoid
- Ataxic
- Mixed
Which professionals might be invovled in the care of a child with a disability?
- Physiotherapist
- Speech therapist
- Occupational therapist
- Orthoptist / Ophthamologist
- Audiologist
- Dietitian
- Social worker
What does the 1996 Education Act state with regards to children being considered to have Special Educational Needs?
Children will be considered as having SEN if they have:
- a significant difficulty in learning compared with the majority of similar aged children
- A disability which either prevents or hinders the child from accessing educational facilities available to that age group.
- Is under 5 years and has the above difficulties
A child with a disability may go on to receive a statement of Special Educational Needs. What are the implications of this?
- A statement formalises the amount of extra help a child with SEN requires
- The child’s school receives extra funding from the Local Education Authority (LEA) for that extra help
How often in a child’s statement of educational needs reviewed?
When is a transitional review carried out?
=> Statement is reviewed annually
=> a transitional review is carried out between 13.5 + 14.5 years.
Give examples of how a child with a disability may need extra help around the home.
- Assistance with self care skills => may need adaptations to the family home
- Help in moving about
- Medical help
- Increased vigilance around the family home to ensure that children are safe.
Children with a disability may be eligible to receive Disability Living Allowance (DLA).
The DLA is divided into 2 parts: name these parts.
- Care component
- Mobility component
What is the aetiology of childhood cancers?
- Most cases: cause is unknown
- Mutations in cellular genes => inherited or sporadic
- Some children at increased risk of cancer eg. Down’s, Immunocompromised, NF1 (Neurofibromatosis 1).
How might a child with a malignancy present?
Localised mass
- lympadenopathy
- organomegaly
- soft tissue or bony mass
Problems from disseminated disease
- Bone marrow infiltration
Problems from localised mass
- airway obstruction from lympadenopathy
If a child were to present with a recurrent URTI, pale + tired, what would be your differentials?
- Post viral
- Leukaemia
A child presents to clinic with a lump in the neck, but it otherwise well. What’s your differential?
- Atypical mycobacteria
- Hodgkin’s
A child presents to clinic with an early morning headache. What’s your differential?
- Sinusitis
- Brain tumour
A child presents to clinic with recurrent fever + bone pain. What’s your differential?
- Arthritis
- Leukaemia
- Ewing’s sarcoma
- Neuroblastoma
How might acute leukaemia present in a child?
- Fever
- Fatigue
- Frequent infections
- Lymphadenopathy
- Hepatomegaly +/or splenomegaly
- Anaemia
- Bruising, petechiae
- Bone or joint pain
What investigations might you conduct if you susepct ALL in a child (acute lymphoblastic leukaemia)
- Blood film
- Serum chemistry
- CXR: ? mediastinal mass
- Bone marrow aspirate
- Lumbar puncture
How might ALL in a child be treated?
Chemotherapy (5 phases):
- Induction
- Consolidation
- Interim maintenance
- Delayed intensification
- Maintenance
Haematopoietic stem cell transplantation
- High risk patients in first remission
- Relapsed patients
How might CNS tumours present in children?
- Headache: worse on lying down
- Vomiting: esp. early morning
- Papilloedema
- Squint
- Nystagmus
- Ataxia
- Personality or behaviour change
What treatment may be offered if a child is diagnosed with a brain tumour?
Surgery: resection / VP shunt
Chemo: single agent / combination treatment
Radiotherapy: for malignant tumours in older children
List some causes of lymphadenopathy in childhood.
- Self-limiting viral or bacterial infections
- HIV infection
- Autoimmune conditions
- Storage disorders
- Malignancy
When should you consider doing a biopsy of an enlarged lymph node?
- Enlarging node without clear infective cause
- Persistently enlarged node
- Unusual site eg. supraclavicular
- If have associated symptoms + signs
- Fever, weight loss, enlarged liver / spleen
- If CXR abnormal.
What is the mainstay of paediatric lymphoma therapy?
- Chemo
- Radiotherapy
- Surgery
- High dose therapy mainly for relapse.
If a child presents with an abdominal mass, what should be on your differentials list?
- Hepatoblastoma
- Wilms tumour
- Neurblastoma
- Lymphoma / leukaemia
- Sarcoma
- Constipation
- Enlarged kidneys => polycystic disease
What is the mainstay for treatment for paediatric neuroblastoma?
- Surgery (if resectable)
- Chemotherapy
- Radiotherapy
What is the mainstay for treatment of Wilms tumours in kids?
- Chemo (before and after surgery)
- Surgery (nephrectomy)
- Radiotherapy (if residual abdominal or pulmonary disease)
What signs should you look for if you suspect a retinoblastoma in a child?
- Loss of red reflex
- Squint
List some late effects of treatment for malignancy seen in children.
- Endocrine => growth + development
- Intellectual
- Cardiac toxicity
- Renal toxicity
- Fertility
- Psychological
Define ‘osteoporosis’.
A disease characterised by low bone mass + microarchitectural deterioration of bone tissue, leading to enhanced bone fragility and a consequent increase in fracture risk.
List 3 inherited / congenital causes of osteoporosis in children.
- Osteogenesis imperfecta
- Inborn errors eg. galactosemia
- Idiopathic
List 4 acquired causes of osteoporosis in children.
- Drug-induced (esp. steroids)
- Major endocrinopathies
- Malabsorption
- Immobilisation
What is the pattern of inheritance of osteogenesis imperfecta?
Which gene is responsible?
Autosomal dominant inheritance
Mostly caused by defects in Type I collagen genes
What signs + symptoms might a child with osteogenesis imperfecta have?
- Bone fragility, fractures + deformity
- Bone pain
- Impaired mobility
- Poor growth
- Deafness, blue sclera
Which classification system is used for Osteogenesis Imperfecta?
Sillence Classification (1979) I = mild II = lethal III = progressively deforming, severe IV = moderate
- bone tissue property = brittle as well as fragile
Children with Osteogenesis imperfecta require MDT management. Who would be invovled in this team?
Physician - bone-targeted drugs - pain - associated medical problems Surgeon - long bones - spine Therapists, Nurses - Muscle strength / mobility - Social + education
Describe the properties of Vitamin D.
- Steroid-like substance
- Fat soluble vitamin
- Receptors in most cells
Where is Vitamin D3 converted to 25-OH vitamin D?
Liver
Where is 25-OH Vitamin D converted to 1,25 (OH)2 Vitamin D?
Kidneys
What does Vitamin D do?
- Makes Calcium available.
> increases calcium absorption from the gut
> increases calcium release from bone - Roles in immune function / tolerance
- Maternal Vitamin D influences bone size + mass in childhood
Maternal vitamin D deficiency may lead to baby vitamin D deficiency if baby is exclusively breast fed. What are the i) moderate, ii) severe, and iii) life threatening complications of vitamin D deficienct for a child?
i) Moderate:
- Radiological or biochemical changes
ii) Severe:
- clinically apparent rickets eg. metaphyseal swelling, bony deformity
iii) Life-threatening:
- Cardiomyopathy
- Hypocalcaemic convulsions
How might Rickets present clinically in a child?
- Bowing deformities
- Motor delay
- Hypotonia
- Fractures
- Respiratory distress
What is the pathology behind Rickets?
Failure to mineralise new bone
What are the biochemical disturbances that might be seen in Vitamin D deficiency?
Raised PTH
Low 25-OH Vitamin D
How should you treat vitamin D deficiency causing hypocalcaemia?
Vitamin D + Calcium
How should you treat vitamin D deficiency causing Rickets?
Vitamin D +/- Calcium
Give an example of a DMARD.
Methotrexate
If an rheumatological condition is suspected in a child, why is it important to get an early referral?
- avoid damage due to inflammation
> loss of cartilage
> erosions into the bone => joint replacement :(
Describe the aetiology of JIA.
- Onset under 16 years
- Unknown cause
- Persistent joint swelling (or painful restriction of movement) lasting at least 6 weeks.
What are your differentials for a child presenting with a swollen joint?
- Trauma: accidental / NAI
- Infection => ?febrile: rapid joint destruction over days / weeks
- Malignancy => ?leukaemia
- Reactive arthritis => lasts for approx 1 week following a previous infection.
What features in a paediatric history might point towards a diagnosis of JIA?
- Morning stiffness
- Persistent swelling
- Decreased ROM
- Pain
- Joint deformity
- Warmth
- Colour change
Give examples of some biologic drugs.
- Etanercept
- Rituximab
- TNF-alpha blockers
How do biologic drugs act?
Biologics target the over-expression of inflammatory cytokines.
Name 5 JIA subtypes
- Oligoarticular
- Polyarticular JIA
- Psoriatic arthritis
- Enthesitis-related arthritis
- Systemic onset JIA
What is ‘oligoarticular’ JIA?
- <4 joints involved
- asymmetric arthritis
- associated with uveitis -> may be asymptomatic
What is ‘polyarticular’ JIA?
- symmetrical
- destructive
- inflammatory -> increased vascularity => increased growth
What is psoriatic arthritis?
- psoriasis + arthritis co-exist
- nail pitting is extensive
- strong genetic link
- dactylitis
What is enthesitis-related arthritis?
- Inflammation at the point where tendons attach to bone
- specifically: back movements are restricted.
What is systemic onset JIA?
- Rash
- Organomegaly
- Spike temperatures
- Associated mortality :(
Treatment: Tocilizumab.
Child presents with a suspected UTI. List some signs + symptoms.
- Miserable
- Temperature
- Vomiting
Child presents with a suspected UTI. What investigations should you do?
- Urine sample
- Urine dipstick may be unreliable
Child presents with a suspected UTI. What is the most likely causative organism?
E. coli
A child is diagnosed with a UTI caused by E coli. What treatment are you going to commence?
IV Cefuroxime for 7 days
What is the most likely causative organism of osteomyelitis in a child?
Staphylococcus aureus
Staphylococcus aureus is found to be causing a child’s osteomyelitis. What would you see on microscopy?
- Gram positive cocci
- In clumps
What is the first line treatment for Osteomyelitis in kids?
IV Cefuroxime
+ Liaise with micro
Treat for a minimum of 6 weeks
What is the first line treatment for bacterial meningitis or meningococcal sepsis in kids?
IV Cefotaxime (or IV Ceftriaxone)
You suspect a child has meningitis. What investigations should you do?
- Blood cultures
- EDTA blood for PCR
- CSF
- Do not delay start of treatment
A child is diagnosed with Neisseria meningitidis. Which antibiotics would be suitable to treat this with?
- Cefotaxime
- Ceftriaxone
- Benzylpenicillin
A child is diagnosed with Neisseria meningitidis. What prophylaxis should be given?
- Ciprofloxacin OR
- Rifampicin
Prophylaxis for household contacts and staff who were exposed.
List 3 notifiable diseases.
Who should you notify?
- All meningitis
- All invasive meningococcal
- All encephalitis
Notify Public Health England
What does Streptococcus pneumoniae look like under the microscope?
Gram positive cocci, in pairs.
List some signs + symptoms of a child who has pneumonia.
- Previously well
- Pyrexial
- Miserable
- Short of breath
What investigations should you do if you suspect pneumonia in a child?
- CXR
- Blood culture
Which is the most common causative organism of lobar pneumonia?
Streptococcus pneumoniae
A child is diagnosed with pneumonia. What is the most appropriate treatment choice?
- IV Benzylpenicillin OR
- Oral amoxicillin
What is the first line treatment for mild community acquired pneumonia?
Oral amoxicillin (5-7 days)
WHat is the first line treatment for severe community acquired pneumonia?
IV Benzylpenicillin (5-7 days)
What are the 4 domains of child abuse?
Physical injury
Sexual abuse
Emotional abuse
Neglect
List some parental factors which pre-dispose a child to child abuse.
- Lack of support
- Deprivation
- Mental Health Problems
- Learning difficulty
- Alcohol + substance misuse
- Domestic violence
List some child-related factors which pre-dispose a child to child abuse.
- “Difficult”
- Preterm
- Disabled
How might a child suffering from abuse present?
- Disclosure
- Injury observed eg. at school
- Found incidentally when attending for another reason
- Injury presented with or without explanation.
What things in a child’s history should raise concerns about abuse?
- Too many injuries
- Unusual shape or pattern
- Wrong type of incident
- Not consistent with child’s development
- No history
- A history that changes
What signs might a baby / child exhibit if they have been shaken?
- Hypoxia
- Subdural haematoma
- Rib fractures
- Retinal haemorrhages
- May have other fractures, torn frenulum etc
Define ‘neglect’.
A standard of care that does not meet the needs of the child.
List some things a neglected child might lack.
- Food + drink
- Warmth + shelter
- Health + dental care
- Education
- Appropriate social opportunities
- Emotional support
- Protection from harm
- Discipline
Emotional abuse is often unrecognised + co-exists with other abuse types. Describe the relationship where emotional abuse is prevalent.
Relationship is high in criticism, low in warmth.
Describe the demographics of children who may suffer from sexual abuse.
- Boys + girls
- Any age
- Family vs stranger abuse
- Wide spectrum of activities
- Linked to other abuse types
What behaviour changes might indicate that a child is subject to sexual abuse?
- Sexualised behaviour
- Indicative of distress
What physical symptoms might indicate that a child is subject to sexual abuse?
- Bleeding
- Discharge
- Soreness
- Wetting or soiling
- STI
- Pregnancy
What investigations should you do if you suspect child sexual abuse?
- Medical assessment
- Lab tests
- Bone profile => PTH if fractures
- Radiology => skeletal survey
- Developmental Assessment
- Social services assessment
- +/- Police investigations
- Case conference
- Review process