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Paediatrics > Development and learning disability > Flashcards

Development and learning disability Flashcards

1
Q

What are the four areas of development?

A

Gross motor
Vision and fine motor
Hearing, speech and language
Social, emotional and behavioural

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2
Q

What are the gross motor limit age milestones?

A

Head control - 4 months
Sits unsupported - 9 months
Stands independently - 12 months
Walks independently - 18 months

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3
Q

At what age do babies usually start to cruise?

A

10-12 months

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4
Q

When would a baby usually start to walk steadily?

A

15 months

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5
Q

What are the limit ages for fine motor and vision?

A

Fixes and follows visually - 3 months
Reaches for objects - 6 months
Transfers object - 9 months
Pincer grip - 12 months

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6
Q

At what age do babies usually get a mature pincer grip?

A

10 months

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7
Q

At what age do babies usually start drawing line, square circles and triangles?

A 
Lines = 2 years
Circle = 3 years
Square = 4 years
triangle = 5 years
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8
Q

At what age should a child be able to build a tower of 6 blocks? a bridge?

A

6 bricks = 2 years

Bridge = 3 years

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9
Q

What are the limit ages for speech, language and hearing?

A 
Polysyllabic babbles = 7 months
Consonant babble = 10 months
Says 6 words with meaning = 18 months
Joins words = 2 years
3 word sentences = 2.5 years
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10
Q

At what age do babies normally start saying mama and dada with meaning?

A

10 months

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11
Q

At what age do babies normally start cooing and laughing?

A

4 months

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12
Q

What are the limit ages for emotional, behavioural and social?

A 
Smiles = 8 weeks
fear of strangers = 10 months
Feeds self with spoon = 18 months
Symbolic play  = 2-2.5 years
Interactive play = 3-3.5 years
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13
Q

At what age do babies normally start waving bye?

A

10-12 months

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14
Q

At what age can babies normally drink from a cup?

A

12 months

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15
Q

What is the asymmetrical tonic neck reflex?

A

Lying supine, the baby will reach out with a hand on the side the head is turned to

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16
Q

What is the most common cytogenic cause for down’s syndrome?

A

Non-disjunction (94%) - incidence proportional to maternal age
Chance of recurrence = 1 in 200 for mothers <35 years

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17
Q

Why should the parents of a child with robertsonian translocation of trisomy 21 be offered chromosomal analysis?

A

There is a higher risk of recurrence

25% will have a parent who is a carrier - i.e. has a balanced translocation - 15% risk of recurrence if mother is carrier, 2.5% if father is carrier

If a parent has a rare 21:21 translocation then the risk is 100%

For those who do not have a carrier translocation the chance of recurrence is <1%

18
Q

Facial appearance of trisomy 21? Other external abnormalities?

A 
Facial:
Up-slanting palpebral fissures and epicanthic folds
Small mouth and protruding tongue
Blushfield spots
Flat occiput
Short, flat nose

Other:
Single palmar crease and incurved fifth finger
Large sandal gap
Small stature and hypotonia

19
Q

Internal abnormalities in Down’s syndrome?

A

Cardiac defects - 40% - atrioventricular septal canal defect (endocardial cushion), VSD, ASG, PDA, tetralogy of fallot
Intelectual impairment
GI disease (30%) - Crohn’s, Hirshsprung’s, duodenal atresia
Secretory OM

20
Q

Long-term complications for down’s syndrome?

A 
Alzheimers and epilepsy
Increased risk of leukemia and solid tumours
Hearing and visual impairment
Coeliac's and hypothyroidism
Sub-fertility
21
Q

What is included in the MDT approach to managing trisomy 21?

A

Rotuine development, cardiac, thyroid, opthamology (if squint) and audiological check-ups

Use of down syndrome growth chart
Genetic counselling
Social care/support for family

22
Q

Prognosis of Down’s syndrome?

A

85% live >1 year (atrioventricular septal canal defect is big cause of mortality)
>50% live >50 years

23
Q

At what age can you refer to ophthalmology for a squint?

A

3 months - can have transient misalignments up until this age

24
Q

What is the most common type of squint?

A

Non-paralytic (within this type convergent is the most common)
Usually due to a refractive error of the cornea or lens

25
Q

What is strabismic amblyopia?

A

Brain neglects image sent by weaker eye - can lead to decreased ocular development and blindness

26
Q

How would an oculomotor paralytic squint present?

A

Ptosis and Proptosis

Pupil will look down and out

27
Q

How would an abducens and trochlear paralytic squints present?

A

Diplopia,
Abducens - eye cannot look laterally
Trochlear - eye is fixed upwards

28
Q

Investigations into squints?

A

Corneal reflex test - should be even reflection in both eyes - if not = refractive error

cover test - performed by experienced persons - object held at 33cm and 6m - ‘lazy’ eye should align when normal eye is covered

CT/MRI of head for suspected pathology i.e. space occupying lesion or encephalitis

29
Q

When does autism usually present?

A

2-4 yrs

30
Q

What are the three areas autistic spectrum children struggle with?

A

Speech and language - delayed development, limited use of gestures, monotonous voice, impaired comprehension (over literal interpretation)

Social interaction - prefer to be alone, do not seek comfort, gaze avoidance, lack of empathy, socially inappropriate behaviour, use repetitive phrases

Ritualistic/routine behaviour - on self and others (throw tantrums if routine is unsettled), peculiar and intense interests, ‘poverty’ of imagination, concrete play

31
Q

Management of autism?

A

Applied Behavioural Analysis (ABA) - 25-30 hours a week spent trying to improve social/language skills and play and to reduce ritualistic behaviour

Can send t special school but encourage inclusion into a mainstream school

Emotional and social support for parents - can blame themselves

32
Q

What is the study linked to MMR vaccine?

A

A very small study (12 people) that falsely linked autism to the MMR vaccine. Rejected by the scientific community - subsequent larger studies have disproven this link, in fact found no association

33
Q

What co-morbidities might an autistic child have?

A

2/3 have a learning disorder/attention problems

1/4 have a seizure disorder

34
Q

What is the usual cause of blindness in developed countries?

A

Genetic - cataract, albinism, retinal dystrophy, retinoblastoma

35
Q

What are the antenatal and perinatal causes of visual impairment?

A

Congenital infection - CMV, rubella, gonorrhoea, chlamydia
Hypoxic-ischaemic encephalopathy
Prematurity - retinopathy
Optic nerve hypoplasia
Neoplasms - retinoblastoma, space occupying lesion

36
Q

Signs of blindness?

A

Xeropthalmia (dry conjunctiva.cornea - vit a deficiency)
Absent red reflex
Pupils - may be unresponsive and of different sizes

37
Q

Management of blindness

A 
Education - braille and special school
Enviromental support - ensure safe home, white cane
Social support
Psych - more prone to depression
Cosmetic - glass eye
38
Q

Usual causes of sensorineural and conductive hearing loss?

A 
Sensorineural = genetic (50%)
Conductive = glue ear
39
Q

Investigations into deafness?

A

Audiometry - performed i first 4/5 weeks of life

CT/MRI of head

40
Q

Management fo deafness?

A

Cochlear implant - microphone sends messages directly to the auditory nerve (bypasses ear) - provides representation of sound

41
Q

What are the symptom of pre-mutation fragile X?

A

Should be no symptoms (CGC repeat - 55-199)

42
Q

Symptoms of full mutation fragile X?

A

Moderate to severe learning difficulties
Autism
Anxiety
Hyperactivity

Signs - macrocephaly with long face, prominent ear and jaw, broad forehead

may develop scoliosis or suffer from mitral valve prolapse

Prognosis = good, no shortened life expectancy

Paediatrics (14 decks)

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