1
Q
Define autistic spectrum disorder (ASD)
A
Pervasive neurodevelopmental disorder which manifests before 3yrs of age characterised by triad of:
- Impairment in social interaction
- Impairment in communication
- Restricted stereotyped interests & behaviours
It is a spectrum hence there is a range of severities. On one end patients have normal intelligence and ability to function in everyday life but displaying difficulties with reading emotions and responding to others. This was previously known as Asperger’s syndrome. On the other end, patients can be severely affected and unable to function in normal environments.
2
Q
Define autistic spectrum disorder (ASD)
A
Pervasive neurodevelopmental disorder which manifests before 3yrs of age characterised by triad of:
- Impairment in social interaction
- Impairment in communication
- Restricted stereotyped interests & behaviours
It is a spectrum hence there is a range of severities. On one end patients have normal intelligence and ability to function in everyday life but displaying difficulties with reading emotions and responding to others. This was previously known as Asperger’s syndrome. On the other end, patients can be severely affected and unable to function in normal environments.
3
Q
What is the prevalence of ASD?
What is the male to female ratio for autism?
A
1-2%
More common in males (M:F is 4:1)
4
Q
State some risk factors for Autistic Spectrum Disorder (structure as pre, ante and post natal)
A
Prenatal
- Genetics (number of chromosomes associated)
- FH of ASD or other psychiatric disorders
- Advancing parental age
- Drugs (e.g. sodium valporate in pregnancy)
- Infection (e.g. rubella)
Antenatal
- Obstetric complications e.g. hypoxia
- Prematurity
- Low birth weight
Postnatal
- Toxins e.g. lead, mercury
- Pesticide exposure
*
5
Q
Autistic spectrum disorder is characterised by the triad of impairment in social interaction, impairment in communication & restricted stereotyped patterns of behaviour; state some features, which the child may display, for each of the 3 categories
A
Social Interaction
- Delay in social development e.g. smiling, waving, pointing
- Lack of eye contact
- Avoids physical contact
- Difficulty establishing friendships
- Lack of interest in others
- Unable to read non-verbal cues
Communication
- Delayed or absent speech
- Lack of appropriate non-verbal communication
- Repetitive use of words or phrases
Behaviour
- Repetitive behaviours
- Fixed/rigid routines and get upset if this changes
- Restricted stereotyped movements (may be self stimulating movements used to comfort themselves e.g. hand flapping, rocking)
- Obsessively pursued interests
- Greater interest in objects, numbers or patterns rather than people
- Lack of creativity
- Fascination with sensory aspect of environment
- Extremely restricted food preferences
6
Q
Alongside features which can be grouped under social impairment, communication impairment and restricted, stereotyped behaviours children with autism often have other associated features; state some
A
- Fear/phobias
- Sleeping disturbances
- Temper tantrums
- Self injury (wrist biting common)
- Intellectual disability (if include all those on spectrum most won’t have)
7
Q
State some other medical conditions associated with ASD
A
- Epileptic seizure (20%)
- Visual impairment
- Hearing impairment
- Pica
- Constipation
- Sleep disorders
- Underlying medical conditions e.g. fragile X, congenital reubella
- Psychiatric e.g. ADHD, depression, OCD
8
Q
What screening questionnaire can be used to help identify autism in children aged 18 months to 3yrs?
A
CHAT (Checklist for Autism in Toddlers)
9
Q
Discuss the management of Autistic Spectrum Disorder (structure as biopsychosocial)
A
Biological
- Treat co-existing disorders e.g. ADHD
- Melatonin for sleep disorders
- If have severe challenging behaviour that hasn’t responded to psychosocial interventions try antipsychotics
Psychological
- Psychoeducation for families, carers, schools etc…
- Behavioural therapies:
- ESDM (early start denver model. Based on ABA but done through play)
- ABA (applied behaviour analysis. Works on principle of operant conditioning)
- CBT (if child is older andhas verbal & cognitive ability to engage & is motivated)
Social
- Modification of environmental factors that initiate challenging behaviour or distress
- Social-communication intervention (play based strategies)
- Special schooling
- Direct towards charities for information & support e.g. National Autistic Society
10
Q
Children with autism are managed by MDTs who aim to provide best environment and support for child & family. Who is involved in the MDT?
A
- Paediatrician
- CAMHs
- SALT
- Dietician
- Social workers
- Specially trained educators & special schools
- Charities e.g. National Autistic Society
11
Q
What is ADHD?
A
Attention Deficit Hyperactivity Disorder is characterised by a persistent pattern of inattention, hyperactivity & impulsivity consistent across various settings. The behaviour is more severe and frequent than in other individuals at comparable stage of development.
12
Q
If features of ADHD are not present in various settings, what may this suggest?
A
Environmental problem
13
Q
What is the prevalence of ADHD?
What is the male to female ratio?
What is the average age of onset?
A
- 3%
- M:F is 3:1
- Age of onset 3-7yrs
14
Q
State some risk factors for ADHD
*Highlight the 2 most commonly associated ENVIRONMENTAL risk factors according to NICE
A
- Family history
- Epilepsy
- Male
- Alcohol use during pregnancy
- Cannabis use during pregnancy
- Low birth weight
- Prematurity
- Low socioeconomic class
15
Q
Three core features of ADHD are inattention, hyperactivity & impulsivity; state some features/behaviours that demonstrate each of the core feautres
A
Inattention
- Not listening when spoken to
- Highly distractible (moving from one activity to another, quickly lose interest)
- Reluctant to engage in mentally challenging tasks e.g. school work
- Forgetting or losing belongings
Hyperactivity
- Constantly moving or fidgeting
- Running & jumping around in appropriate places
- Excessive talking or noisiness
Impulsivity
- Difficulty waiting their turn
- Interrupting others
- Will prematurely blurt out answers to questions
- Temper tantrums
- Aggression
- Disobedient
- Running out into street without looking
16
Q
Collateral information from who is important in assessment of ADHD?
A
School
17
Q
Many people with ADHD have comorbid conditions; state some
A
- Learning difficulties
- Conduct disorder (50% pts with ADHD)
- Oppositional defiant disorder
- Tourette’s syndrome
- Mood disorders
- Anxiety disorders
- Dyspraxia
18
Q
Discuss the management of ADHD
A
General Management for All
- Psychoeducation for both parent, child & school
- Healthy diet with avoidance of foods that trigger symptoms
- Support groups e.g. ADDISS
Psychotherapy/training programmes
- Parent training (helps parents reinforce positive behaviour & find alternative ways of managing disruptive behaviour)
- CBT and/or social skills training in older children
Pharmacological
NOTE: drug therapy should be last resort is only available to those aged 5yrs or more if other options haven’t worked and ADHD is severe:
- First line= methylphenidate
- If fails other options include= lisdexamfetamine, dexamfetamine & atomoxetine
19
Q
What is the mechanism of action of methylphenidate?
A
Dopamine/noradrenaline reuptake inhibitor
20
Q
State some side effects of methyphenidate
A
- GI upset (abdo pain, nausea/vomiting, diarrhoea, dry mouth)
- Anorexia
- Palpitations
- Headache
- Insomnia
- Drowsiness
- Dizziness
21
Q
Drugs used for ADHD are cardiotoxic therefore a baseline ECG is required before initiation; true or false?
A
True
22
Q
What monitoring is required for ADHD pts taking medication?
A
- Weight (every 3 months if 10yrs and younger, after first 3 months then 6 monthly if >10yrs)
- Height (every 6 months)
- BP and HR: routinely every 6 months,before & after each dose change,
23
Q
Discuss the DSM-V criteria for ADHD
A
24
Q
What is cerebral palsy?
A
Disorder of movement & posture due to a non-progressive lesion of the motor pathways in the developing brain.
It is the most common cause of major motor impairment. Huge variation in severity & type of symptoms; may be wheelchair bound and dependent or a para-olympic athelete with minor problems with coordination or mobility.
25
State some potential causes of cerebral palsy; structure your answer as antenatal, perinatal & post-natal
_Antenatal_
* Maternal infections (e.g. rubella, CMV, toxoplasmosis)
* Trauma
* Chorionamnionitis
_Perinatal_
* Birth asphyxia *(lack of blood flow or gas exchange to or from fetus in period immediately before, during or after birth e.g. children with hypoxic-ischaemic-encephalopathy)*
* Pre-term birth
_Postnatal_
* Meningitis
* Intraventricular haemorrhage
* Severe neonatal jaundice
* Head injury
26
State some conditions associated with cerebral palsy
* Learning disability (60%)
* Epilepsy (30%)
* Hearing impairment (20%)
* Squints (30%)
* Visual impairment
* Gastroesophageal reflux
* Kyphoscoliosis
* Muscle contractures
27
State the 4 types of cerebral palsy, include:
* Name(s)
* Description of how it presents
* What part of CNS is damaged
* **Spastic/pyramidal:** hypertonia and reduced function due to damage to UMN
* **Dyskinetic/athetoid/extrapyramidal:** problems controlling muscle tone, with hypertonia & hypotonia, causing athetoid movements & oro-motor problems due to damage to basal ganglia
* **Ataxic:** problems with coordinated movements due to damage to cerebellum
* **Mixed:** mix of spastic, dyskinetic and/or ataxic features
*\*athetoid movements are involuntary writhing movements caused by abnormal muscle contraction. Mainly occurs in fingers and face affecting speech and use of hands.*
28
What is the most common class of cerebral palsy?
Spastic/pyramidal accounts for ~70%
29
Spastic/pyramidal cerebral palsy has different patterns/can affect different areas of body; state and describe 4 different patterns of spastic cerebral palsy
* **Monoplegia:** one limb affected
* **Hemiplegia:** one side of body affected
* **Diplegia:** four limbs affected (but mostly legs)
* **Quadriplegia:** four limbs are affected more severely than in diplegia; often with seizures, speech disturbance & other impairments
30
Signs & symptoms of cerebral palsy will become more evident during development; state some signs & symptoms
* Failure to meet milestones/developmental delay
* Increased, decreased or fluctuating tone (this may be generally or in specific limbs)
* Hand preference below 18 months
* Feeding or swallowing problems
* Persistent toe walking
* Learning difficulties
31
What 3 abnormalities of gait may you find in a pt with cerebral palsy?
* **Hemiplegic:** leg is extended and plantar flexed meaning they have to swing their leg around in a semi-circle (circumduct) when walking
* **Diplegic:** abnormally narrow base, legs cross in midline due to tight hip adductors (scissor gait), drag both legs and scrape toes on floor
* **Ataxic:** broad based, clumsy/staggering/poor balance
*\*quadriplegic pts often unable to walk*
32
What's the difference between paraplegia and diplegia?
Paraplegia: both lower limbs only
Diplegia: both lower limbs affected and both upper limbs partly affected
33
In cerebral palsy damage is to the UMN; remind yourself of signs of UMN lesion
* Hypertonia
* Hyperreflexia
* Extensor plantar reflexes
* Power slightly reduced
34
Discuss the management of cerebral palsy
Focus is on **supporting** pt to achieve **the most fulfilled independent life possible**; management involves a **MDT approach**:
* **Paediatricians:**
* Muscle relaxants for spasticity & contractures (e.g. baclofen [can be given intrathecal], diazepam, botulinum toxin A injections)
* Anti-epileptics for seizures
* Glycopyrronium bromide for excessive drooling
* **Physiotherapy:** *stretch & strengthen muscles to maximise function & prevent contractures*
* **Occupational therapy:** *help pts manage ADLs*
* **SALT:** *help with speech & swallowing (may require NG or PEG if swallowing prevents adequate nutrition)*
* **Dieticians:** *ensure nutritional needs are met- may require NG or PEG*
* **Social workers:** *help with benefits and support*
* **Orthopaedic surgeons:** *procedures to release contractures or release tendons, correct scoliosis*
* **Charities & support groups:** *information, support, connect with others*
35
What is Down's syndrome?
Syndrome, caused by trisomy 21 in 95% of cases, producing **dysmorphic features, developmental delay** and **mild to severe cognitive impairment**.
36
What ‘maternal characteristic’ increases risk for Down's syndrome?
Age
37
State some dysmorphic features in Down's syndrome
* Brachycephaly (small head with flat back)
* Flattened face & nose
* Epicanthic folds
* Brushfield spots
* Protruding tongue
* Upward sloping palpebral fissures
* Small low set ears
* Hypotonia
* Single palmar crease
* Short stature
* Short neck
* Incurved little fingers (clinodactyly)
* Sandal toe gap (large gap between 1st & 2nd toe)
38
Down's syndrome is associated with many conditions; state some of these
*\*HINT: consider cognitive, visual, hearing, cardiac, respiratory, GI, MSK, endocrine, ENT, growth & others*
* **Learning disabilities**
* **Visual impairment:** *congenital cataracts, strabismus, infantile glaucoma*
* **Hearing impairment:** *conductive (eustachian tube abnormalities lead to glue ear and hearing loss)*
* **Cardiac:** *atrioventricular septal defects (40%), VSD (30%), ASD (10%), tetralogy of Fallot, PDA*
* **Respiratory:** *recurrent chest infections due to silent aspiration & impaired immune function*
* **GI:** *oesophageal atresia, trachea-oesophageal fistula, duodenal atresia, Hirschsprung's disease, imperforate anus*
* **Musculoskeletal:** *hypotonia, atlantoaxial instability*
* **Endocrine:** *increased risk hypothyroidism*
* **ENT:** *glue ear, recurrent otitis media, OSA (all due to small upper airway spaces)*
* **Growth & development:** *short stature*
* **Others:** *leukaemia more common, Alzheimer's disease, subfertility (males almost always infertile due to impaired spermatogenesis and females usually subfertile)*
39
All women are offered antenatal screening for Down's syndrome to decide which women should have more invasive tests that would give a definitive diagnosis; what are the 3 screening tests a woman be offered and which is first line/most accurate?
* **Combined test** (first line test of choice as most accurate)
* **Triple test** (offered if women book later in pregnancy e.g. 15-20 weeks)
* **Quadruple test** (offered if women book later in pregnancy e.g. 15-20 weeks)
40
For the combined test (to screen for Down's syndrome), discuss:
* When it is performed in pregnancy
* What results it uses
* What a positive result is
* Performed between **11 weeks - 13 weeks + 6 days** gestation *(basically 11-14weeks)*
* Combines results from ultrasound & maternal blood tests:
* USS: measure **nuchal translucenc**y (thickness of the back of the neck of the fetus)
* Maternal blood tests: **beta-HCG and PAPP-A** (pregnancy-associated plasma protein-A)
* Positive results: **nuchal thickness \>6mm, high beta-HCG, low PAPP-A**
41
For the triple test (to screen for Down's syndrome), discuss:
* When it is performed in pregnancy
* What results it uses
* What a positive result is
* Between **14 and 20** **weeks** gestation
* Uses maternal blood results:
* **Beta-HCG**
* **Alpha-fetoprotein (AFP)**
* **Unconjugated oestriol**
* Positive result: **high beta-HCG, low AFP, low unconjugated oestriol**
42
For the quadruple test (to screen for Down's syndrome), discuss:
* When it is performed in pregnancy
* What results it uses
* What a positive result is
* Between 15 and 20 weeks gestation
* Uses maternal blood tests:
* Beta-HCG
* AFP
* Unconjugated oestriol
* Inhibin A
* Positive result: **high beta-HCG, low AFP, low unconjugated oestriol, high inhibin-A**
43
The screening tests for Down's syndrome give a risk score for the fetus having Down's syndrome; discuss:
* What the threshold for further testing is
* What further testing is offered
* If risk of Down's is **\>1 in 150…**
* Woman offered **amniocentesis or chorionic villus sampling**. Both involve taking **sample of fetal cells** to perform **karyotypin**g to give a **definitive** answer of whether fetus has Down's syndrome
44
Compare amniocentesis & chorionic villus sampling; include what each involves and when each is used
_Amniocentesis_
* Ultrasound guided aspiration of amniotic fluid using a needle & syringe
* Used later in pregnancy, **\>15 weeks**, when there is enough amniotic fluid to make it a safer sample
_Chorionic villus sampling_
* Ultrasound guided biopsy of placental tissue
* Used when testing is done **\< 15 weeks**
45
NIPT (non-invasive prenatal testing) is a new way of testing for fetal abnormalities during pregnancy; describe how it works
* Take blood from mum. Blood will contain **fragments of DNA**; some of which will come from **placental tissue and represent fetal DNA**. Analyse these fragments.
* Not definitive, but gives a very good indication
* **Gradually being rolled out in NHS** as an alternative to invasive testing for women who have a higher than 1 in 150 risk
46
Discuss the management of Down's syndrome
Management involves a MDT:
* Paediatrician
* Cardiologist for congenital heart disease
* ENT specialist for ear problems
* GP
* Occupational therapist
* SALT
* Physiotherapy
* Dietician
* Health visitor
* Audiologists for hearing aids
* Opticians for glasses
Will need additional support with educational needs. Charities such as Down's Syndrome Association can provide networking, support & information.
47
State some routine follow up investigations that are required in children with Down's syndrome
* Echocardiogram *(diagnose heart defects. ~40% born with congenital and increased risk of heart defects e.g. aortic regurgitation)*
* Regular thyroid checks (2yrly)
* Regular audiometry
* Regular eye checks
48
What is the average life expectancy for pts with Down's syndrome?
60yrs (varies dependent on severity of associated problems/complications)
49
What are learning disabilities?
Range of conditions that affect the ability of the child to develop new skills
50
State some different types of learning disability
* Dyslexia
* Dysgraphia
* Dyspraxia
* Auditory processing disorder
* Non-verbal learning disability
* Profound & multiple learning disability
51
Describe each of the following types of learning disability:
* Dyslexia
* Dysgraphia
* Dyspraxia/developmental co-ordination disorder
* Auditory processing disorder
* Non-verbal learning disability
* Profound & multiple learning disability
* **Dyslexia**: *difficulty in reading, writing & spelling*
* **Dysgraphia:** *difficulty in writing*
* **Dyspraxia/developmental co-ordination disorder:** *difficulty in physical coordination*
* **Auditory processing disorder:** *difficulty in processing auditory information*
* **Non-verbal learning disability:** *difficulty in processing non-verbal information*
* **Profound & multiple learning disability:** *severe difficulties across multiple areas often requiring help with all aspects of life*
52
Severity of learning disabilities is based on IQ (intelligence quotient); state the IQ ranges for:
* Mild
* Moderate
* Severe
* Profound
* Mild: 55-70
* Moderate: 40-55
* Severe: 25-40
* Profound: \<25
53
State some risk factors for learning disabilities
*\*include conditions associated with learning disabilities*
* FH
* Abuse
* Psychological trauma
* _Toxins_
_Conditions associated:_
* Down's syndrome
* Autism
* Epilepsy
* Antenatal problems e.g. fetal alcohol syndrome, maternal chickenpox
* Birth problems e.g. prematurity, hypoxic ischaemic encephalopathy
* Early childhood problems e.g. meningitis
54
Discuss the management of learning disabilities
Requires an MDT approach:
* Paediatricians
* GPs
* Nurses
* SALT
* Occupational therapists
* Health visitors
* Social workers
* Schools
55
What is Tourette's syndrome?
Syndrome characterised by development of **tics** (**involuntary movements or sounds** that a child performs **repetitively** throughout the day) that **persist for over a year**
56
What are premonitory sensations in Tourette's syndrome/
Strong urge to complete the tic
57
In pts with Tourette's syndrome, the urge to perform the tic increases when the person tries to suppress it; true or false?
True
58
State some conditions Tourette's syndrome is associated with?
* OCD
* ADHD
* Anxiety
* Depression
59
Tics become less prominent when a person is under pressure or excited; true or false?
False; become MORE prominent
60
What is the average age of onset for Tourette's syndrome?
Usually appear anywhere in childhood, aged 2-14yrs but aged **5/6yrs** is most common age of onset
61
State some examples of physical tics
* blinking (S)
* eye rolling (S)
* grimacing (S)
* shoulder shrugging (S)
* jerking of the head or limbs (S)
* copropraxia/obscene gestures (C)
* jumping (C)
* twirling (C)
* touching objects and other people (C)
(S)= simple tic, (C)= complex tic
62
State some examples of vocal tics
* grunting
* throat clearing
* whistling
* coughing
* tongue clicking
* animal sounds
* saying random words and phrases
* echolalia (repeating a sound, word or phrase) (C)
* obscene words e.g. swearing (C)
63
Discuss the management of Tourette's syndrome
_Mild cases with no signs underlying disease:_
* **reassurance**
* advising on how to **reduce stress, anxiety & triggers**
* **monitoring**
_More severe tics should be managed by specialist for:_
* **Management of co-morbid conditions** e.g. OCD, ADHD
* **Habitat reversal training** *(exploring the feelings that trigger tics & finding an alternative, less noticeable way of relieving the urge to tic)*
* **ERP** (exposure & response prevention)
* **Antipsychotics**
64
Go to Yr4 Psychiatry to revise depression & anxiety, self harm, eating disorders, substance misuse and CAMHS (as these are all relevant in paeds)
.
65
What dose of fluoxetine do you usually start children on?
10mg and work up to 20mg
66
What questionnaire can be used to assess progress in children with depression?
MFQ (mood & feelings questionnaire\_
Yr4: Child Health
flashcards
Decks in class (21)
# Cards
-
Community Paediatrics66
-
Child Development85
-
Safeguarding & Law20
-
Endocrinology100
-
Respiratory 191
-
Respiratory 248
-
ENT45
-
Cardiology121
-
Paediatric Emergencies36
-
Neurology90
-
Infectious Diseases92
-
Gastroenterology59
-
Surgery111
-
Haematology/oncology85
-
Neonatology132
-
Musculoskeletal/Rheumatology107
-
Renal & Urology57
-
Immunology42
-
Paediatric History & Examination19
-
Genetics57
-
Dermatology80
