Level 1 - Development/Behaviour

Question 1

What is Down’s syndrome?

Answer 1

• Trisomy of chromosome 21

Question 2

Epidemiology of Down’s syndrome?

Answer 2

• Commonest cause of learning disability
• Most common chromosomal abnormality
• Life expectancy 55 years

Question 3

Risk factors for Down’s syndrome?

Answer 3

• Increased maternal age
• Family history
• Aetiology
• Non-dysjunction of c21 at meiosis
• Rarer – Robertsonian translocation or mosaicism

Question 4

Features of Down’s syndrome birth?

Answer 4

• Increased rate of spontaneous miscarriage - Presents at birth

 Hyperflexibility, hypotonia

 Bradycephalc, oblique palpebral fissures, epicanthic folds, ring of iris speckles

 Low set ears, flat nasal bridge, protruding tongue, high arched palate

 Single palmar crease

 Short broad hands

 Wide sandal gap between first and second toes

Question 5

Other features in Down’s syndrome?

Answer 5

• Low IQ (25-70)
• Hearing loss
• Cataracts
• Duodenal or anal atresia
• ASD, VSD, Fallot’s Tetralogy
• Hypothyroidism
• DDH
• Leukaemia
• Almost all develop Alzheimer’s disease by 40 years

Question 6

Screening available in Down’s syndrome?

Answer 6

o Offered to all women at booking

o Combined test has detection rate of 85%

o A risk of 1:150 or less is classed as high risk and offered invasive diagnostic testing

o Blood sample (10-14 weeks)

 Measures beta-hCG, PAPP-A, AFP, uE3

o USS – Nuchal translucency (11-14 weeks)

 Measure the size of the nuchal pad at the nape of the fetal neck

 Straightforward but has 20% false-positive rate

Question 7

What is the next step after high risk combined test? What is the NIFT? Invasive diagnostic testing in Down’s syndrome?

Answer 7

If high risk combined test, NIPT screening test offered If NIPT positive (<1:100) then invasive diagnostic testing is offered

o Non-invasive prenatal test

• Detection rate of 99% which screens for Down’s, Edwards and Patau
• Taking blood sample from mother and looking at foetal DNA

o Either chorionic villus sampling (if less than 13 weeks of gestation) or amniocentesis (if beyond 15 weeks of gestation)

o These procedures carry a risk of miscarriage (0.5-1% excess miscarriage risk for amniocentesis)

Question 8

Management of Down’s syndrome?

Answer 8

• Genetic counselling offered prenatally
• Refer for cardiac assessment, hip USS and audiology

6 weeks - NIPE+ developmental + CV exam + check cataracts

3 & 6 months - follow up

8-10 months - hearing test

• Put parents in contact with a support organisation such as the Down’s Association
• Long-term follow up by a MDT.

Question 9

What annual testing is needed in Down’s syndrome? What is it like living with Down’s syndrome?

Answer 9

• Annually test TFT- hypothyroid
• Audiology from 18 months - then annually
• Ophthalmic assessment 1-2yearly

Spectrum of disability - on one end, some can lead rich and varied lives (independent, jobs, relationships and marriage) but on the other end they can have severe disability and associated problems

Advances in medical care means people with Down’s can live longer, into 50’s or 60’s depending on level of impairment

Question 10

Define squint?

Answer 10

• A squint (strabismus) is a misalignment of the visual axes. That is, both eyes are not directed at an object at the same time

Question 11

What is a pseudo squint?

Answer 11

• A pseudo squint is the impression of misaligned eyes when no squint is present. For example, prominent epicanthic fold

Question 12

Epidemiology of squint?

Answer 12

• 2% of children have squints
• 60% esotropia

Question 13

Aetiology of a squint?

Answer 13

o Idiopathic

o Refractive error

o Visual loss

 Retinoblastoma, cataract, ocular movements, optic neuropathy

o Cerebral palsy

o Abnormal extra-ocular muscles of innervation

o Cranial III, IV, VI palsies

Question 14

Risk factors for squint?

Answer 14

o Low birth weight

o Prematurity

o Smoking

o Anisometropia, hypermetropia

o FHx

Question 15

What are the two types of squint?

Answer 15

o A manifest squint (a ‘tropia’)

 A squint present when eyes are open and being used so that when one eye views the object of interest, the other eye is deviated

 This may be constant, or intermittent when the squint is present only some of the time

o A latent squint (a ‘phoria’)

 A squint that is present only when the use of the two eyes together is interrupted (‘dissociated’)

Question 16

Describe the directions of a squint?

Answer 16

o Horizontal deviation

 Esotropia or esophoria (convergent squint), or exotropia or exophoria (divergent squint).

o Vertical deviation

 Hypertropia (upward squint) or hypotropia (downward squint)

o Combined

Question 17

Describe the squint in relation to eye position?

Answer 17

o Comitant (concomitant) squint

 Degree of deviation does not vary with the direction of gaze

 This is typical of most childhood squints

 This equates to no paralysis or limitation of eye movements but the balance between the muscles in the two eyes has been lost.

o Incomitant (non-comitant) squint

 The degree of deviation varies with the direction of gaze

 This may indicate an acquired neurological or muscular disease-causing paresis or paralysis of one or more of the extra-ocular muscles resulting in limitation of eye movements.

Question 18

Describe squints in relation to accommodation reflex?

Answer 18

o Accommodative

 A squint that occurs, or is more obvious, when the child is accommodating and focusing on an object

 The child is typically hypermetropic (long-sighted) and the squint can be reduced or corrected if the refractive error is corrected with glasses

o Non-accommodative

 A squint where either there is no significant hypermetropia, or if hypermetroia is present there is no change in the angle of the squint with appropriate glasses.

Question 19

How to assess a squint?

Answer 19

General inspection

Corneal light reflex

Red reflex test

Cover Test/Uncover Test

Alternate cover test

Cranial nerve Exam

Question 20

Features of general inspection in squint assessment?

Answer 20

o Look for any asymmetry in eye position and ocular abnormalities

Question 21

Features of corneal light reflex test in squint assessment?

Answer 21

o Pen-torch held at 30cm, light reflection should appear in same position in two pupils

o If not, a squint is present

Question 22

Features of red reflex test in squint assessment?

Answer 22

o Using ophthalmoscope, visualise red reflex from 30cm and should be identical in shape, size and colour

Question 23

Features of cover/uncover test in squint assessment?

Answer 23

o Ask child to fix on object, cover the good eye and watch squinting eye fix

o Done at 33cm and 6m

o As the cover is introduced over one eye, watch the uncovered eye for any movement. Then repeat, covering the other eye. In a manifest squint when the straight eye is covered, the squinting eye will have to move to align with the fixation objection

o If no manifest squint is found then proceed to look for a latent squint

Question 24

Features of alternate cover test in squint assessment?

Answer 24

o As the child fixes on the toy, cover one eye for about three seconds, then alternate cover rapidly over each eye, and watch for any movement of the eye that has just been uncovered

o In latent squint (phoria) the eye will drift under the cover, on removing the cover the eye will straighten to regain binocular vision

Question 25

Features of cranial nerve exam in squint assessment?

Answer 25

o Ocular movements o Check visual acuity o Fundoscopy o Accomodation reflex

Question 26

When to refer a potential squint?

Answer 26

- Refer any child with a suspected or confirmed squint to the local paediatric eye service - The earlier treatment , the better the outcome to prevent amblyopia

Question 27

Management of a squint?

Answer 27

o Corrective Glasses o Occlusion of normal eye  With patch or occlusive glasses  Penalisation alternative where normal eye blurred by atropine drops o Eye exercises o Surgery  Altering point of insertion of an extra-ocular muscle into sclera, or by shortening an extra-ocular muscle Botulinum Toxin

Question 28

Complications of squint?

Answer 28

- Amblyopia - Failure to develop binocular - Compensatory head postures - Poor eye contact - Social and psychological problems

Question 29

Define behaviour?

Answer 29

- Behaviour serves a purpose and is modified according to outcome - Change environment to change behaviour

Question 30

Describe 4 forms of operant conditioning?

Answer 30

o Reinforcement  Positive Reinforcement – Give something, increases frequency (reward)  Negative Reinforcement – Taking away, increases frequency (escape) o Punishment  Positive punishment – Giving something, decreases frequency (penalty, chores)  Negative punishment – taking something away, decreases frequency (sanction, remove xbox)

Question 31

When is behaviour management useful?

Answer 31

o Eating, sleeping, wetting, soiling o Anti-social behaviour o Phobias (school refusal)

Question 32

What part of history is important in mealtime problems?

Answer 32

o Nutrition o Discipline and parenting o How much food is eaten between meals?

Question 33

What parts of history important to ask in child not settling problem?

Answer 33

o Sleeping in other parts of day? o Disturbed sleep/wake cycle o Separation anxiety o Overstimulated in evenings o Kept awake – TV in bedroom, siblings o No bedtime routine

Question 34

How to investigate the problem behaviour?

Answer 34

Explore problem Construct formulation Plan with family

Question 35

What things to explore to find the problem in behavioural problems?

Answer 35

a. What is the problem? b. Question until you can reconstruct the problem in your own mind c. How long? d. How severe? e. Who is affected? f. What else is going on? g. Why this child?

Question 36

How to construct formulation in behavioural problems?

Answer 36

a. Antecedents, behaviour, consequences

Question 37

How to plan with family to implement behavioural problems?

Answer 37

a. Involve parent and child b. Specific c. One behaviour at a time d. SMART goals

Question 38

Principles of behavioural management?

Answer 38

o Clear, immediate, consistent, contingent o Remember some punishments can be reinforcing

Question 39

General tips in behavioural management?

Answer 39

o Calm environmental, consistent (parents, time), boundaries o Warn parents that it may get worse before better when introducing new behaviours o Encourage good behaviours

Question 40

Describe star chart and how it works?

Answer 40

 Powerful tool to change behaviour  Choose behaviour you want to change  Set up chart with style that is suitable * Child creates own chart, photo of reward * Make it visible  Child collects stickers or tokens for the chart each time they behave the way you want  Reward based on the number of stickers she has gathered  Positive reinforcement  Shows they have done a good job and keeps him motivated  Can give gifts or treats (small value) after a certain number of stars to encourage perseverance

Question 41

Describe time out and how they work?

Answer 41

 Somewhere neutral  Not child’s bedroom  1 minute per year of the child’s age  Negative punishment

Question 42

What parent education may be useful in behavioural management?

Answer 42

o Psychoeducation, increasing acceptable behaviour, setting clear expectations, strategies for avoiding trouble

Question 43

What specific advice should be given in meal refusal?

Answer 43

o Allow reasonable choice of food o Avoid confrontation at mealtimes o Develop relaxed atmosphere o Use favourite foods as a reward – reward compliance of mealtimes o Reduce eating between meals

Question 44

What specific advice should be given in toddler tantrums?

Answer 44

o Tell child directly what you want them to do, praise compliance, simple incentives o Avoid threats that cannot be carried out Ignoring tantrums