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
