Paediatrics- core conditions Flashcards
Potential causes of speech delay
Hearing impairment, global development delay, autism spectrum disorder, specific language disorders, neglect, attachment disorder, selective mutism.
Autism epidemiology and impaired social communication
It is three to four times more common in boys than girls, around 50% of children with ASD have an intellectual disability
Impaired social communication and interaction= children frequently play alone and uninterested in being with other children. 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
Autism spectrum disorder- clinical features
- Social communication impairment and repetitive behaviour can be present before 2-3 years of age
- Often associated with intellectual impairment or language impairment
- Attention deficit hyperactivity disorder (35%) and epilepsy (18%) are also commonly seen in children with ASD.
- ASD is also associated with a higher head circumference to the brain volume ratio.
- Repetitive behaviour, interests and activities= stereotyped and repetitive motor mannerisms, inflexible adherence to non-functional routines or rituals. Children are noted to have a particular way of doing everyday activity
Autism spectrum disorder: Management
- Involves educational and behavioural management, medical therapy and family counselling
- Goal is to increase functional independence and quality if life through:
- Learning and development, improved social skills and improved communication
- Decreased disability and comorbidity
- Aid to families
Autism spectrum disorder: Non pharmacological therapy
Early educational and behavioural interventions:
* Applied behavioural analysis
* ASD preschool program
* Treatment and Education of Autistic and Communication related handicapped Children (TEACCH)/Structured Teaching method.
* Early Start Denver Model (ESDM).
* Joint Attention Symbolic Play Engagement and Regulation (JASPER).
Family support and counselling: parental education on interaction with the child and acceptance of his/her behaviour
Autism spectrum disorder: Pharmacological interventions
No consistent evidence demonstrating medication mediated improvements in social communication
* SSRI’s: help reduce symptoms like repetitive stereotypes behaviour, anxiety and aggression
* Antipsychotic drugs: useful to reduce symptoms like aggression, self-injury
* Methylphenidate: for ADHD
Diabetes: symptoms
Symptoms of type 1 diabetes: Polyuria, Nocturia, New onset enuresis, Polydipsia, Unintentional weight loss, Fatigue, Blurred vision, Extreme hunger, Irritability/mood changes
Most children are diagnosed between 9-14
Diabetes: vaccines and diagnosis
Vaccines: annual immunisation against influenza, immunisation against pneumococcal infections if they are taking insulin or oral hypoglycaemic medication
Diagnosis= fasting plasma glucose >7.0 mmol/l or 2 hour plasma glucose >11.1 mmol/l
Describe the monitoring for complications and associated conditions in type 1 diabetes in children
- Thyroid disease at diagnosis and annually until transfer to adult services
- Diabetic retinopathy annually from 12 years
- Moderately increased albuminuria (albumin:creatinine ratio [ACR] 3–30 mg/mmol; ‘microalbuminuria’) to detect diabetic kidney disease, annually from 12 years
- Hypertension annually from 12 years
- Annual foot assessment from the age of 12 years
- Type 1 Diabetics are at greater risk of developing coeliac disease, therefore they should be screened at diagnosis and when symptoms arise.
What are the different insulin regimens
- Multiple daily injection basal–bolus insulin regimens: injections of short-acting insulin or rapid-acting insulin analogue before meals, together with 1 or more separate daily injections of intermediate-acting insulin or long-acting insulin analogue.
- Continuous subcutaneous insulin infusion (insulin pump therapy): a programmable pump and insulin storage device that gives a regular or continuous amount of insulin (usually a rapid-acting insulin analogue or short-acting insulin) by a subcutaneous needle or cannula.
- One, two or three insulin injections per day: these are usually injections of short-acting insulin or rapid-acting insulin analogue mixed with intermediate-acting insulin.
What is the target range for HbAic
HbA1c target level of 48 mmol/mol (6.5%) or lower is ideal to minimise the risk of long-term complications
Migraine: treatment
Simple analgesic like paracetamol or NSAID such as ibuprofen. If ineffective use a 5HT1- receptor agonist like sumatriptan
Migraine: prophylaxis
Where migraine attacks are frequent, possible provoking factors such as stress should be sought; combined oral contraceptives may also provoke migraine. Preventive treatment should be considered if migraine attacks interfere with school and social life, particularly for children who:
- suffer at least two attacks a month;
- suffer an increasing frequency of headaches;
- suffer significant disability despite suitable treatment for migraine attacks;
- cannot take suitable treatment for migraine attacks.
Migraine: Medication
- Propranolol hydrochloride may be effective in preventing migraine in children but it is contra-indicated in those with asthma. Side-effects such as depression and postural hypotension can further limit its use.
- Pizotifen, an antihistamine and a serotonin-receptor antagonist, may also be used but its efficacy in children has not been clearly established. Common side-effects include drowsiness and weight gain.
- Topiramate
Downs syndrome: Clinical features
- face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
- flat occiput
- single palmar crease, pronounced ‘sandal gap’ between big and first toe
- hypotonia
- congenital heart defects (40-50%)
- duodenal atresia
- Hirschsprung’s disease
- Tend to be shorter and have a higher weight
- Constipation
Downs syndrome: Cardiac complications
- multiple cardiac problems may be present
- endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
- ventricular septal defect (c. 30%)
- secundum atrial septal defect (c. 10%)
- tetralogy of Fallot (c. 5%)
- isolated patent ductus arteriosus (c. 5%)
Downs syndrome: Later complications
- subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
- learning difficulties
- short stature
- repeated respiratory infections (+hearing impairment from glue ear)- due to reduced immunity, feeding difficulties, GORD and heart or airway problems
- acute lymphoblastic leukaemia
- hypothyroidism
- Alzheimer’s disease
- atlantoaxial instability
- Hearing problems- should be checked yearly
- Visual problems- checked 2 yearly
Down syndrome screening
Screening: all pregnant women are offered a screening test between 10 and 14 weeks to assess the chances of having a baby with trisomy 13, 18 and 21.
Children with downs syndrome have at minimum an annual review to check general health, development, social history
Screening checks in school age kids with Downs syndrome: 2 yearly TFT, 2 yearly vision testing, 2 yearly audiology review, 1 yearly height and weight
Down syndrome pathophysiology
Three main genetic mechanisms
* Gamete non-disjunction: influenced by maternal age
* Robertsonian translocation
* Mosaic: not all cells have the trisomy
Due to presence of three copies of chromosome 21
Appendicitis
Diagnosis is often made difficult by a presentation which is far from the classically history of:
* central abdominal pain which later radiates to the right iliac fossa, in children or infants it may be more widespread
* low-grade pyrexia
* minimal vomiting, in viral gastroenteritis nausea and vomiting present before the pain
Appendicitis- presentation
Children who are younger or have a retrocaecal/pelvic appendix are more likely to present in an atypical way
Appendicitis is uncommon in children under 4 years old but in this group often presents with perforation
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis (JIA) is an umbrella term for a range of arthritis affecting children and young people where the cause is not clear. JIA is a diagnosis of exclusion for children <16 years old who have persistent joint swelling (>6 weeks). Different kinds of JIA include polyarthritis, oligoarthritis and systemic forms.
Symptoms of arthritis (JIA)
- Systemic signs include: fever, malaise, salmon pink rash
- Joint involvement can be in one or multiple joints
- Clinical diagnosis once other diagnoses have been excluded i.e. infection, malignancy, lupus
JIA- management
JIA can be extremely debilitating and patients may need psychological support to help coming to terms with using walking aids so early on in life
Options for medical management include:
* NSAIDs (symptom control only)
* Steroids (intra-articular or oral)
* Steroid-sparing agents e.g., methotrexate or biologics such as TNF-a inhibitors
JIA- complications
- Flexion contractures (requiring physio and splints)
- Joint destruction (requiring prostheses at young ages)
- Growth failure (from steroids and chronic disease)
- Anterior uveitis (causing visual impairment)
Pauiarticular JIA
- Refers to cases where 4 or less joints are affected, accounts for 60% of JIA
- Features: joint pain and swelling, usually medium sized joints I.e. knees, ankles, elbows. May develop limp
- ANA may be positive- associated with anterior uveitis
Systemic onset JIA
- Known as still’s disease
- Features: pyrexia, salmon-pink rash, lymphadenopathy, arthritis, uveitis, anorexia and weight loss
- ANA me be positive especially in oligoarticular JIA
- Rheumatoid factor is usually negative
Septic arthritis
- Double the amount of boys
- Most commonly affected joints are hip, knee and ankle
- Symptoms: joint pain, limp, fever, systemically unwell: lethargy
- Signs: swollen, red joint. Only minimal movement
- Joint aspiration: for culture, shows raised WBC, raised inflammatory markers, blood culture
Kocher criteria for the diagnosis of septic arthritis
- Fever >38.5 degrees
- Non-weight bearing
- Raised ESR
- Raised WCC
Risk factors for ADHD
Prematurity, low birth weight, low paternal education, prenatal smoking, maternal depression.
Inattention symptoms
- Does not follow through on instructions
- Reluctant to engage in mentally-intense tasks
- Easily distraction
- Finds it difficult to sustain tasks
- Finds it difficult to organise tasks or activities
- Often forgetful in daily activities
- Often loses things necessary for tasks or activities
- Often does not seem to listen when spoken to directly
Hyperactivity/impulsivity symptoms
- 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
Initial diagnosis of ADHD
ADHD is a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent. There has to be an element of developmental delay. For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features. Four times as common in boys, normally diagnosed between 3 and 7.
Secondary diagnosis of ADHD
Following presentation, a ten-week ‘watch and wait’ period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required. This is normally to a paediatrician with a special interest in behavioural disorders, or to the local Child and Adolescent Mental Health Service (CAMHS). Parents can attend education and training programmes
Drug therapy for ADHD
- Last resort, only available to 5 and above
- Methylphenidate is first line in children and is initially given on a six-week trial basis. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height and blood pressure should be monitored every 6 months. Can cause growth retardation, weight loss, tachycardia and hypertension.
- If there is inadequate response, switch to lisdexamfetamine;
- Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can’t tolerate its side effects.
- All these drugs are potentially cardiotoxic, perform a baseline ecg before starting treatment
ADHD- simple behavioural management
Reward charts, positive redirection, 1-2-3 reward visuals and self imposed concentration breaks.
ADHD- complications
- Lower educational and employment attainment
*Poor self-esteem - Criminal behaviour
- Relationship issues
- Sleep disturbance
- Substance abuse
- Road traffic accidents
- Self-harm
Cerebral palsy
A group of permanent movement disorder that occur due to damage to the childs CNS involved in motor control. Lesions are non-progressive I.e. it does not get worse
Cerebral palsy: causes
- Antenatal: Hypoxic-ischaemic encephalopathy, infection
- Post-natal: Meningitis, Trauma, Haemorrhage, Medication toxicity, Kernicterus
- Idiopathic
Cerebral palsy classification: Spastic
- 90% have some spastic features
- damage to pyramidal pathways ( pyramidal weakness)
- General features: increased tone and reflexes, clasp knife, flexed hip and elbow
- Scissor gait
- May be monoplegic, diplegic, hemiplegic
Cerebral palsy classification: Dyskinetic/athetoid
- Damage to the basal ganglia pathways
- Choreiform movements
- Can exhibit signs of Parkinsonism
Cerebral palsy classification: Dyskinetic/athetoid
- Damage to the basal ganglia pathways
- Choreiform movements
- Can exhibit signs of Parkinsonism
Cerebral palsy classification: Ataxic
- Damage to cerebellar pathways
- Uncoordinated movements
- Signs of cerebellar lesions
Cerebral palsy complication
- Injuries from impaired balance/coordination
- Aspiration pneumonias from impaired swallowing
- Muscle wasting
- Scoliosis and other MSK deformities from impaired posture and muscle control
Cerebral palsy management: MDT
- Physiotherapy to help with movement and strength exercises
- Occupational therapy may help with mobility aids, home adjustments and devices such as orthotics
- Speech and language therapy for swallowing assessments
- Dieticians if there are concerns regarding low intake due to swallowing difficulties
Cerebral palsy management: medical and surgical
- Medical: Baclofen for spasm, Botulinum toxin type A injections used if spasticity is severely affecting function. Diazepam for pain. Hyoscine hydrobromide or glycopyronium bromide for excess drooling
- Surgical management: Orthopredic surgery for MSK deformity/injuries/tendon release. General surgery if a PEG tube needs fitting
Cerebral palsy: possible manifestations include
- abnormal tone early infancy i.e. floppy or stiffness
- delayed motor milestones: not sitting by 8 months, not walking by 18 months, hand preference before 12 months
- abnormal gait
- feeding difficulties i.e. chocking, dysphagia
- Persistent toe walking
- Non-motor problems i.e. learning difficulties (60%), epilepsy (30%), squints (30%), hearing impairment (20%)
Cerebral palsy is a clinical diagnosis but no diagnostic tests, an MRI brain can be requested to rule out differentials.
Cerebral palsy: possible manifestations include
- abnormal tone early infancy i.e. floppy or stiffness
- delayed motor milestones: not sitting by 8 months, not walking by 18 months, hand preference before 12 months
- abnormal gait
- feeding difficulties i.e. chocking, dysphagia
- Persistent toe walking
- Non-motor problems i.e. learning difficulties (60%), epilepsy (30%), squints (30%), hearing impairment (20%)
Cerebral palsy is a clinical diagnosis but no diagnostic tests, an MRI brain can be requested to rule out differentials.
Cerebral palsy: complications
- Problems with feeding and aspiration, Drooling
- Constipation
- Visual and hearing impairment, sleep disturbances
- Epilepsy
- Learning disability, Speech difficulty
- Osteopenia and osteoporosis (especially if non-mobile)
