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extra 1 (e) > Developmental Delay and Learning Disability > Flashcards

Developmental Delay and Learning Disability Flashcards

1
Q

How common is Down’s syndrome?

A

Most common genetic cause of developmental delay

1/600 pregnancies

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2
Q

How is Down’s syndrome screened for?

A

Combined test (10 weeks - 14 weeks + 1 day):

Serum screening - beta-HCG and PAPP-A

US screening - nuchal translucency

If later = quadruple test (14 weeks + 2 days - 20 weeks + 0):

  • beta-HCG
  • AFP
  • Inhibit-A
  • Unconjugated estriol (uE3)
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3
Q

List the possible genetic defects in Down’s syndrome

A

1) Trisomy 21 = 94%
2) Mosaicism = 2.4%
3) Translocations = 3.3%

NB 75% of these translocations are de novo errors

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4
Q

What is a trisomy 21?

A

Additional copy of an entire chr 21

In most cases it is maternally derived, through an error in cell division called non-dysjunction (can be during meiosis or a mitotic error)

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5
Q

What is partial trisomy 21?

A

When only a segment of chr 21 has three copies

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6
Q

What is mosaicism?

A

When the whole chromosome is triplicate but only a proportion of the cells are trisomic with the other cells being normal

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7
Q

What is translocation in Down’s syndrome?

A

Some of the genetic material from chr 21, usually from the long arm, is moved to chr 14 or 22, or from the long to the short arm of chr 21

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8
Q

What are some risk factors for Down’s syndrome? (2)

A

1) Inc maternal age

2) FH

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9
Q

What is typically the first feature noticed in Down’s syndrome?

A

Hypotonia

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10
Q

What are some general neonatal features of Down’s syndrome?

A

Hyper-flexibility
Hypotonia
Transient myelodysplasia of the newborn

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11
Q

What are the neonatal features of Down’s syndrome in the head?

A 
Brachycephaly
Oblique palpebral fissures
Epicanthic folds
Ring of iris speckles = Brushfield's spots
Ears set low, folded or stenotic meatus
Flat nasal bridge
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12
Q

What are the neonatal features of Down’s syndrome in the mouth?

A

Macroglossia

High arched palate

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13
Q

What are the neonatal features of Down’s syndrome in the neck?

A

Single palmar crease
Short little finger
In-curved little finger
Short broad hands

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14
Q

What are the neonatal features of Down’s syndrome in the feet?

A

Gap between hallux and second toes

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15
Q

How may the heart and GIT be affected in Down’s syndrome?

A

Congenital heart defects

Duodenal atresia

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16
Q

What is transient myelodysplasia of the newborn?

A

= transient neonatal preleukaemic syndrome

Majority undergo remission

10% progress to myeloid leukaemia of Down’s syndrome

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17
Q

What screening should newborn’s with Down’s syndrome undergo?

A 
Cardiac
Feeding
Vision
Hearing
Thyroid
Haematological
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18
Q

What % of newborns with Down’s syndrome have a congenital heart defect? How should this be investigated?

A

50%

Often undetectable on prenatal US

Need echocardiogram

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19
Q

What should marked hypotonia or other feeding difficulties prompt in Down’s syndrome?

A

Radiographic swallowing

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20
Q

How is congenital cataracts checked for?

A

Red reflex

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21
Q

Why should a FBC be included in for newborns with Down’s syndrome?

A

Increased risk of transient myeloproliferative disorder, leukaemoid ruction and polycythaemia

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22
Q

How frequently do children with Down’s syndrome need review?

A 
Annual checks of:
Feeding assessment
Bladder and bowel function
Behavioural disturbance
Vision and hearing
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23
Q

What are the most common cardiac abnormalities in Down’s syndrome? (6)

A

1) Atrioventricular canal defects
2) VSD
3) Isolated secundum atrial septal defects
4) Isolated persistent patent ductus arteriosus
5) Fallot’s tetralogy
6) Adults may develop mitral valve prolapse or aortic regurgitation

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24
Q

What ENT disorders are common in Down’s syndrome? (5)

A

1) 90% have hearing loss (conductive, sensorineural or mixed)

Inc risk of:

2) OM
3) Sinusitis
4) Pharyngitis
5) Obstructive sleep apnoea

25
Q

What ophthalmological disorders are common in Down’s syndrome? (6)

A

1) Cataracts
2) Refractive errors
3) Strabismus
4) Nystagmus
5) Congenital glaucoma
6) Keratococonus

26
Q

What GI disorders are common in Down’s syndrome? (9)

A

1) Oesophageal atresia or tracheo-oesophageal fistula
2) Duodenal atresia
3) Pyloric stenosis
4) Meckel’s diverticulum
5) Hirschsprung’s disease
6) Imperforate anus
7) GOR
8) Dental problems eg delayed and unusual patterns of eruptions, missing teeth
9) Coeliac disease

27
Q

What orthopaedic disorders are common in Down’s syndrome?

A

1) Atlanto-axial instability
2) Hyperflexibility
3) Scoliosis
4) Hip dislocation
5) Patellar subluxation or dislocation
6) Foot deformities

28
Q

What endocrine disorder is common in Down’s syndrome? (1)

A

Hypothyrodism

29
Q

What neurological and psychiatric disorders are common in Down’s syndrome? (4)

A

1) Learning difficulties - range from severe to those with ‘low normal’ IQ
2) Behavioural problems
3) Seizures in 5-10%
4) In older - Alzheimer’s type picture develops in >60% of those over 60yrs

30
Q

What haematological disorders are common in Down’s syndrome?

A

1) 12x greater risk of infection eg pneumonia due to impaired cellular immunity
2) Increased risk of acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and acute megakaryoblastic leukaemia (AMegL)
3) Polycythaemia and transient myeloproliferative disorder (self-limiting type of leukaemia which regresses spontaneously by age 2 months)

31
Q

How is Down’s syndrome screened for?

A

Combined test (10 weeks - 14 weeks + 1 day):

Serum screening - beta-HCG and PAPP-A

US screening - nuchal translucency

If later = quadruple test (14 weeks + 2 days - 20 weeks + 0):

  • beta-HCG
  • AFP
  • Inhibit-A
  • Unconjugated estriol (uE3)
32
Q

What is a strabismus?

A

A squint

Misalignment of the eyes (eyes point in different directions)

Thus the retinal image is not in corresponding areas of both eyes

  • Amblyopia in childhood
  • Diplopia in adults
33
Q

What is amblyopia?

A

Eye fails to achieve normal visual acuity

= Lazy eye

34
Q

What is esotropia?

A

Inward-turning squint

35
Q

What is exotropia?

A

Outward-turning squint

36
Q

What are hypo- and hypertrophic?

A

Downward and upward turning squint

37
Q

How common are squints?

A

1/15 children

Increased incidence in learning disability + brain damage

38
Q

What is the cause of strabismus?

A

Can occur in otherwise normal children - most idiopathic

Rarer causes:
Cataract
Retinal disease / retinoblastoma
Glaucoma

39
Q

What is infantile (congenital or essential) strabismus?

A

Common condition characterised by a squint in an otherwise normal infant with no refractive error

40
Q

What are the different ways of classifying strabismus?

A

1) Congenital (<6 months) or acquired
2) Right, left or alternating
3) Permanent or intermittent
3) Manifest (when open) or latent (when covered/shut)
4) Concomitant (non-paralytic) or incomitant (paralytic)
5) Primary, secondary or consecutive
6) Situational eg reading

41
Q

What are concomitant (non-paralytic) or incomitant (paralytic) strabismus?

A

Concomitant = size of the deviation does not vary with direction of gaze (non-paralytic)
- More common

Incomitant = direction of gaze affects size / presence of quint

Most estropeas are concomitant and begin age 2-4yrs

Incomitant occurs in both childhood and adulthood as a result of neurological, mechanical or myogenic problems affecting the muscles controlling eye movements

42
Q

When are manifest and latent strabismus seen?

A

Manifest = obvious at all times

Latent = only found on investigation, usually when tired

43
Q

What are some risk factors for strabismus? (11)

A

1) FH
2) Prematurity
3) Neonatal jaundice
4) Encephalitis
5) Meningitis
6) CP
7) Craniofacial abnormalities
8) Learning difficulties +/- syndromes eg Down’s syndrome or Turner syndrome
9) Fetal alcohol syndrome
10) Hydrocephalus
11) Space occupying lesions

44
Q

How may strabismus present in children? (4)

A

1) Intermittently closing one eye - intermittent exotropia (esp in sunlight)
2) Reduced motor skills in amblyopic children
3) May be detected in preschool screening
4) Compensatory head tilt or chin lift to minimise diplopia

45
Q

How should a squint be examined?

A

Determine from hx and examination if intermittent or constant and if worsening

Early childhood strabismus common and usually settles by 4 months = this type is always intermittent

46
Q

What can be done on examination of a squint?

A

Corneal light reflex

Red reflex - appears pale in squinty eye

Occular movement tests

Visual acuity

Cover test - good eye is covered so the squinty eye has to move to take up fixation

47
Q

What is the corneal light reflex test?

A

= Hirschberg’s test

Gives estimate of degree of strabismus

Hold pen torch an arms length from pt eye + ask pt to look at the light

Observe position of reflection with respect to the cornea

  • If light on outer margin = esotropia
  • Inner margin = exotropia
48
Q

What is the cover/uncover test?

A

Pt asked to focus on object in front of them

One eye occulded for several second and uncovered eye is observed for movement

Movement of eye outwards = esotropia (eye was turned inwards initially)

Movement of eye inwards = exotropia (eye was turned outwards initially)

49
Q

What is the alternate cover test?

A

Similar to cover test but occluder rapidly switched from one eye to another

Shows latent exe/esotropia

50
Q

Medial rectus

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Medial rectus

Direction of pull = medial
Result of paralysis = lateral
Cranial nerve = III

51
Q

Superior rectus

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Superior rectus

Direction of pull = upwards
Result of paralysis = downwards
Cranial nerve = III

52
Q

Superior oblique

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Superior oblique = SO4

Direction of pull = down and out
Result of paralysis = up and in
Cranial nerve = IV

53
Q

Lateral rectus

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Lateral rectus = LR6

Direction of pull = lateral
Result of paralysis = medial
Cranial nerve = VI

54
Q

What is a pseudosquint?

A

Prominent epicanthal folds create the illusion of a squint

55
Q

What is the management of a squint?

A

Refractive error corrected using glasses

Eye patch on good eye encourages use of squinting eye

Surgery to correct rectus muscle alignment

56
Q

What squint is seen in a CN III palsy?

A

“Down and out”

57
Q

Inferior oblique

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Inferior oblique

Direction of pull = up and out
Result of paralysis = down and in
Cranial nerve = III

58
Q

Inferior rectus

Direction of pull =
Result of paralysis =
Cranial nerve =

A

Inferior rectus

Direction of pull = downwards
Result of paralysis = upwards
Cranial nerve = III

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