Paediatrics Flashcards
What is the CFTR membrane transporter?
The CFTR membrane is a salt transporter, particularly in moving chloride ions out of the cell. Mutation of the CFTR leads to impaired muco-ciliary clearance. There are 7 types of cystic fibrosis:
Class 1: No protein
Class 2: No traffic
Class 3: Impaired gating
Class 4: Decreased conductance
Class 5: Less protein
Class 6: Less stable
How is Cystic Fibrosis treated?
G551D was one of the first genes to be targeted with modulator therapy and the drug is Ivacaftor. Ivacaftor opens the proteins to allow them to function. Class II mutations account for most of CF patients and patients with class II mutations are impaired by the DeltaF508 protein destroying healthy proteins.
The aim of therapy is to mask the DeltaF508 so that proteins can get to the membrane. This is done by Lumacaftor/Ivacaftor as a combination (Orkambi) therapy or Tezacaftor/Ivacaftor in combination.
Orkambi is only prescribed for 6–12-year-olds but there is a hypotension risk.
How should doctors safeguard young people?
Doctors are required to safeguard and protect the health and wellbeing of children and young people. This means treating them as individuals, respecting views, and considering their physical and emotional welfare. Decision making should be based on the least restriction of their future options, involve parents were possible but separately when appropriate. Always be open and truthful with young people about their care as they have a right to know.
What are the principles of the mental capacity act of 2005?
The mental capacity act of 2005 assumes that every adult (over 16) has the capacity to make decisions about their care. They lack capacity if they are unable to understand, retain, weight up information, or communicate their decision. This should only be considered after all efforts have been made to support them. They may lack capacity if there is a disturbance in functioning of the mind/brain.
Those under 16 are not assumed to have capacity but they can demonstrate capacity (Gillick Competence) if there is sufficient maturity and intelligence to understand the nature and implications of a proposed intervention, proposed intervention is in their best interests, and there have been attempts to persuade involvement of the parents. Capacity to consent can be affected by physical and emotional development. There should be consideration of the complexity and seriousness of the predicament in a case-by-case basis.
How is consent for under 16s gained?
Consent for U16s is based on acting in their best interests. Parents should make important decisions up until children are able to make their own decisions. This should take into account the child’s views where developmentally appropriate. Those with capacity (Gillick) should be encouraged to involve parents but they can make their decision independently (advocate or MDT involvement may be considered).
16–17-year-olds who lack capacity will still be under the care of their parents. Treatment can be given in best interests without parental consent, however. Those who have capacity are almost treated as adults. They may not be able to refuse treatment in certain circumstances.
How does the children’s act of 1989 interact with healthcare?
The Children’s Act of 1989 describes the responsibility of parents, local authorities, protection in emergencies and divorce. Parental responsibility is with the mother always, the father if married at the time of birth or their name is on the birth certificate, and/or the local authority if shared. Usually only one parental consent is required.
Doctors have the same duty of confidentiality for children (with guardians) as they do for adults but a breech is justified if there is a significant risk of harm.
What does the mental health act of 1983 establish?
The mental health act 1983 (amended 2007) sets out when patients can be compulsorily treated for a mental disorder without their consent to protect them or other from harm. It also sets out the rights to challenge compulsory powers through a mental health tribunal. There is no age limit. The mental health act still should respect the principle of least restrictive option.
Deprivation of Liberty Safeguards only apply to over 18s and parents cannot consent to DOLs for 16/17s.
How should the development from childhood to adulthood be assessed?
This encompasses the developmental milestones. A developmental history should include pregnancy, delivery, neonatal health, childhood illnesses, milestones, temperament, attachment, separation, play, peer and sibling relationships, concerns from school, trauma, ASD features, ADHD features, coping with change and contribution to formulation. Developmental examination is observational and should take the context into account.
What are neurodevelopmental disorders?
Neurodevelopmental disorders are behavioural and cognitive disorders. There are core features that arise during development. These may present with difficulties in acquisition and execution of specific intellectual, motor, and social functions. Examples are ASD and ADHD.
What are the features of autism spectrum disorder?
Autism Spectrum Disorder (ASD) encompasses Asperger’s and Autism. It is increasingly common. Features include persistent deficit in initiating and sustaining social interaction, social communication and restrictive/repetitive/inflexible behaviour and interests. Onset is usually during development and after 3 years old but may not manifest until later when social demands begin to exceed their limited capacities. These features need to be impairing and pervasive for ASD to be diagnosed.
Symptoms will change with development and may become masked by compensatory mechanisms and then unmasked later. ASD may or may not be associated with an intellectual impairment or associated with a medical, genetic, or acquired condition. Co-morbidities often include other neurodevelopmental and psychiatric conditions.
How does ASD present in social interaction?
In social interaction there may be a lack of social interest (aloof/odd), abnormal social responses, lack of sustained or reciprocal interactions, lack of empathy, impaired understanding of social codes and conventions, lack of facial expressions, and impaired peer relationships.
How does ASD present in language?
In terms of language this may be delayed in development, echolalia (repeating the end of someone’s sentence), precise and formal language, repetitive questions, stereotyped phrases and monotonous. There may be poor language comprehension (literal interpretations) and abnormal social use of language (elective mutism, monologues, restricted to demands/information). Non-verbal deficits include lack of eye contact, absent gestures, and lack of integration.
What does rigidity and inflexibility mean in ASD?
Rigidity and inflexibility refer to ASD features of exact routines/rituals, intolerance of minor environmental change, fussiness over food and clothing, and rigid opinions. They may have solitary/stereotyped/repetitive play, intense narrow interests in unusual objects/subjects, lacks social quality or joining in and lacks social imaginative play. There can be associated features of mannerisms (flapping) and sensory sensitivities.
How should ASD be assessed?
Assessment is with a history, MSE and objective assessment of social communication examination, investigations of structured observation tools (ADOS), structured questionnaires, or school observation. The MDT should include SALT, Psychology, Ed Psych, Comm Paeds. Differentials can include OCD, depression and psychosis.
How should ASD be managed?
Management is with diagnosis and explanation to improve parental understanding and train them. Support could include NAS, groups, social care and respite care. Modifying the environment may be beneficial in the school, home, and clinic. Co-morbidities should be treated such as ADHD, TICs/Tourettes, anxiety, and/or mood disorders. Behavioural analysis and interventions such as communication aids (visual timetables and symbols). Some will benefit from social skills groups or stories. Medication options are limited but can include Risperidone (for highly challenging behaviour) and SSRIs (for the anxiety).
What is attention deficit hyperactivity disorder?
For a diagnosis there must be deficit in all three areas of inattention, impulsivity, and hyperactivity. Inattention can present as unable to stay on task, seeming not to listen, disorganisation, and losing things. Impulsivity presents with intrusiveness and lack of patients. Hyperactivity presents with fidgeting and cannot sit still. The challenge is deciding whether these areas are inconsistent with the age or developmental level. Symptoms should be pervasive across time and settings and associated with impairment such as social, academic, or occupational. ADHD is associated with externalising disorders such as conduct or oppositional disorders
How should ADHD be assessed ?
Assessment is with a thorough history, including co-morbidities, MSE and objective assessment of symptoms in clinic and investigations can include structured questionnaires, computerised tasks or home school observation.
How should ADHD be treated?
Treatment is with psychoeducation, environmental changes, behavioural strategies and medications can include stimulants (methyphenidate/dexaphetamine/lysdexaphetamine), atomoxetine, or guanfacine.
What is Behavioural and emotional disorder with onset usually occurring in childhood and adolescence:
Conduct disorder, oppositional defiant disorder, mixed disorder of conduct and emotions, separation anxiety disorder of childhood, phobic anxiety disorder, social anxiety, sibling rivalry disorder, generalised anxiety, elective mutism, attachment disorder (reactive or disinhibited), tic disorders (Tourette), non-organic enuresis, non-organic encopresis, pica, feeding disorder of infancy and childhood, stereotyped movement disorders, stuttering & cluttering.
How does pharmacology differ in children?
Oral absorption is slower in children due to differences in gastric pH, gastric emptying, and GI enzymes. For this reason, it may be worth considering topical and inhaled options. Phenytoin is impaired by the higher gastric pH in neonates so should be loaded IV and then given oral maintenance doses.
Distribution: Large extracellular & total body water compartments in infants. There are also changes in the blood-brain barrier and circulating plasma proteins.
Metabolism: Phase 1 metabolism is mainly catalysed by P450 which only reaches adult levels at age 10. Stage 2 metabolism Is a conjugation of polar compounds excreted in urine which is usually achieved by glucuronidation (UGT2B7) or sulphination.
Excretion: Most drugs are renally excreted so children with renal impairment or under the age of 1 should have dose adjustments to account for reduced GFR.
How should gentamicin be used in children?
This is an aminoglycoside antibiotic which is eliminated primarily by glomerular filtration. Aminoglycosides are nephrotoxic. Longer dosing intervals and lower initial dose in infants (especially preterm) to avoid accumulation.
How is opiate overdose managed?
ABCDE, Airway is at risk from suppressed GCS so gidell airway may be required. Oxygen to support breathing with a bag valve mask. IV access. Naloxone will reverse the respiratory depression. Short half-life so there may be a second dose required.
Codeine is contraindicated in children under 12 and post adeno/tonsillectomy for children with signs of sleep apnoea.
What is Ehlers Danlos syndrome?
This is a group of inherited disorders that affect the connective tissues. Common symptoms include joint hypermobility, stretchy skin, and fragile skin that bruises easily. There are 13 types with the hypermobile type the most common.
What is hypermobile Ehlers Danlos Syndrome?
Hypermobile EDS presents with joint hypermobility, unstable joints, joint pain, joint clicking, heartburn, constipation, fatigue, easy bruising, dizziness, mitral valve problems, organ prolapse and urinary incontinence. Some people have hypermobility but no other symptoms of EDS and so are diagnosed with hypermobility spectrum disorder.
hEDS is diagnosed with a Beighton score >6/9 and other features.
What is classical Ehler’s Danlos Syndrome?
Classical EDS presents with joint hypermobility, unstable joints, stretchy skin, fragile skin, velvety skin, slow healing wounds, hernias, and organ prolapse.
What is vascular Ehler’s Danlos Syndrome?
Vascular EDS presents with skin that bruises easily, think skin with visible blood vessels, fragile blood vessels that can lead to internal bleeding, organ dysfunction from weak vessels, hypermobile fingers and toes, and unusual facial features.
What is kyphoscolioisis Ehler’s Danlos Syndrome?
Kyphoscoliosis EDS presents with curvature of the spine, joint hypermobility, hypotonia, fragile eyes, velvety skin, easy bruising, and unstable joints.
What is Juvenile Idiopathic Arthritis?
Juvenile Idiopathic Arthritis is a diagnosis of exclusion. It presents with joint pain, swelling, stiffness, fever, swollen lymph nodes and a rash on the trunk (worse on evenings). It is an autoimmune disease and is more common in girls. Complications include cataracts, glaucoma, and growth deformity.
Systemic JIA can cause macrophage activation syndrome (secondary hemophagocytic lymphohistocytosis). This is prominent activation of T-cells and macrophages which causes a systemic inflammatory response. Look for a fall in ESR or discrepancy between ESR and CRP. There may also be a raised ferritin, raised LFTs and raised D dimer.
What investigations should be done for Juvenile Idiopathic Arthritis and systemic JIA?
General Investigations: FBC/ferritin/CRP/ESR/U&Es/LFTs, CXR, ECHO, urine dipstick and microscopy, USS abdomen, blood cultures, throat swab, viral PCR, bone marrow biopsy, lymph node biopsy and urine catecholamines. These investigations should be based on clinical indications and differentials.
Investigations for JIA: Diagnosis is clinical but investigations can include ANA, RF, HLA B27, Anti dsDNA, anti-ENA (Lupus), ANCA (vasculitis), FBC, ESR, CRP, synovial fluid examination, X rays and DEXA.
How should Juvenile Idiopathic Arthritis be treated?
Treatment: MDT approach. Consider steroids, NSAIDs, and methotrexate and if the response is poor then consider a biologic.
Biologics:
* Anti-TNF, e.g. etanercept / adalimumab first line biologic for most JIA subtypes.
* IL-6 blocker (e.g. tocilizumab) or IL-1 blocker (anakinra) in sJIA.
* Tocilizumab / abatacept for resistant disease - S/C or I.V.
* Rituximab (anti-CD20) is an option for resistant disease if RF +ve (I.V).
* Tofacitinib (JAK inhibitor) is also an option for resistant disease (oral).
What are the types of Juvenile Idiopathic Arthritis?
Systemic: Multisystem disease
Polyarticular: Five or more joints affected in 6 months and can be RF +/-
Oligoarticular: Less than 5 joints affected in first 6 months. (Risk of silent uveitis)
Enthesitis-related arthritis: Arthritis with inflammation of any tendinous, ligamentous, or muscular insertion onto the bone
Psoriatic: Inflammatory arthritis in the presence of psoriasis or a first degree relative with psoriasis.
Undifferentiated: Arthritis that doesn’t fit neatly into any other categories
What are the complications of Juvenile Idiopathic Arthritis?
Uveitis, growth impairment, joint deformity, scoliosis, leg length discrepancy, micrognathia, and psychological.
What is Juvenile Dermatomyositis?
This is an autoimmune condition affecting small blood vessels of the muscles and skin causing muscle weakness, pain, and skin rashes on the face/eyelids/knuckles/knees/elbows. There may also be irritability, fever, and joint pains.
Nailfold capillary abnormality is seen in 80% of juvenile onset disease. Other cutaneous features include malar rash, linear extensor erythema, V sign, holster sign, shawl sign, palmar/planter vasculopathy, erythroderma, livido reticularis, sun exposed erythema, gingival erythema, calcinosis, and lipodystrophy.
How should Juvenile Dermatomyositis be investigated?
Muscle enzymes CPK/LDH/AST/ALT, FBC/ESR/PV/CRP, MRI thigh muscles, muscle biopsy, nailfold capillaroscopy, myositis associated antibodies, EMB and X-ray for calcinosis.
Major end-organ involvement should be assessed with ECG, ECHO, pulmonary function tests, CXR, video fluoroscopy, abdominal USS, MRI brain, and urine dipstick.
How is Juvenile Dermatomyositis managed?
IV methylprednisolone to oral prednisolone, methotrexate, sun protection, adequate calcium and vitamin D. Severe disease should be treated with cyclophosphamide, rituximab, infliximab, or adalimumab. For less severe disease that does not respond to treatment consider IVIG or rituximab/infliximab/adalimumab.
This should be combined with physiotherapy, OT, psychology and pharmacy input.
It is important to consider neuromuscular disease or polymyositis even though these conditions are very rare. This should be considered when there is abnormal fatigability, muscle hypertrophy, myalgia, muscle cramps, organ involvement and very early age of onset.
What are the causes of inflammatory myopathy?
Inflammatory myopathy can be caused by infections, endocrine causes (hypothyroidism, hypothyroidism, parathyroid disease, Cushing’s, Conn’s and Acromegaly), and metabolic disturbances (hyper/hypokalaemia, hypernatremia, hypomagnesemia, hypophosphatemia, and hypo/hypercalcaemia). Vitamin D deficiency can cause muscle weakness.
What is quotidian fever?
A fever that cycles over 24 hours is quite commonly seen in JIA. This is also called quotidian fever and is associated with malaria. Fever increases the likelihood that this is inflammatory/infective/neoplastic.
What is the NICE Guidelines for suspected leukemia in young people?
- NICE guidelines on suspected leukaemia in children and young people:
i. Refer child or young person for IMMEDIATE specialist attention for leukaemia if they have unexplained PETECHIAE or HEPATOSPLENOMEGALY.
ii. Very urgent blood count (within 48 hours) if any of the following: Pallor, persistent fatigue, unexplained fever, unexplained persistent infection, unexplained bleeding, unexplained bone pain, or as a differential for a lump.
iii. NICE guidance for bone cancers:
Can see signs incidentally on an x-ray - needs urgent referral (within 48 hours) or Urgent x-ray (< 48 hours) required to assess for bone sarcoma in any unexplained bone swelling or pain.
iv. NICE guidance for soft tissue sarcoma:
Consider very urgent (< 48 hours) USS for any unexplained lump that is increasing in size or Consider very urgent (< 48 hours) referral if USS is suggestive of sarcoma, or if it is uncertain and symptoms persist.
v. NICE guidance on neuroblastoma:
Consider very urgent referral (48 hours) for specialist assessment of neuroblastoma with any unexplained enlarged abdominal organ or abdominal palpable mass
vi. NICE guidance for Wilm’s tumour:
Consider very urgent referral (48 hours) for specialist assessment with any unexplained enlarged abdominal organ or abdominal palpable mass or unexplained haematuria
vii. Persistent parental concern can also be considered a red flag.
viii. Nocturnal symptoms, weight loss, general malaise - can all be things that
need to be considered as being signs of malignancy.
How is JIA defined?
JIA is defined as joint pain for more than 6 weeks, age under 16, the type is defined by how many joints and what other systems are affected within the first 6 months, and can only be diagnosed after the elimination of septic arthritis, osteomyelitis, and malignancy.
How can Juvenile Idiopathic Arthritis and Kawasaki be differentiated?
sJIA: Over 6 weeks of fever and up to 39 degrees, rash is salmon pink and tends to present with the fever, generalised lymphadenopathy, myalgia, arthralgia, arthritis, polyserositis, hepatosplenomegaly, and rarely myocarditis or cardiomyopathy.
Kawasaki: Fever for over 5 days and temperature over 38 degrees, rash is polymorphous, lymphadenopathy is cervical, bilateral non-purulent conjunctivits, oedema (subsequent desquamation), oropharyngeal mucosal changes, urethritis, arthralgia, aseptic meningitis, diarrhoea, vomiting, coronary involvement, and myocardial/pericardial involvement.
How should sJIA be managed?
General points about JIA: Establish diagnosis and council parents and child. This is a potentially long-term condition (in some children, it will subside, but, in others, it is persistent - see notes on prognosis). Thorough discussion of the meaning of the diagnosis, the complications and the implications of treatment.
Start treatment as soon as possible.
Most children will need regular hospital review to look for the presence and re-appearance of thickened synovium and effusions.
EXERCISE - this is important to maintain mobility and prevent deformity.
School performance needs to be monitored.
Growth needs to be monitored.
Monitor for uveitis (initially three-monthly by ophthalmology).
Night splints and intra-articular steroids may also help.
Specific SJIA: NSAIDs - for pain, fever, serositis - note - high dose. Pulsed I.V steroids if no improvement after one week NSAIDs. Follow with oral steroids 1 mg / kg / day until inflammatory markers normal. MTX used sometimes but less effective than in other JIA subtypes. Counselling about contraception and alcohol for adolescents. Biologics in refractory cases. Intra-articular steroids for joint flares.
- NOTE that because of using high-dose steroids, methotrexate /
DMARDs and biological immunosupressants, it is very important to
be certain that this is NOT an infection and that there are no latent
infections, such as latent T.B.
