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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
What ophthalmological disorders are common in Down's syndrome? (6)
1) Cataracts 2) Refractive errors 3) Strabismus 4) Nystagmus 5) Congenital glaucoma 6) Keratococonus
26
What GI disorders are common in Down's syndrome? (9)
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
What orthopaedic disorders are common in Down's syndrome?
1) Atlanto-axial instability 2) Hyperflexibility 3) Scoliosis 4) Hip dislocation 5) Patellar subluxation or dislocation 6) Foot deformities
28
What endocrine disorder is common in Down's syndrome? (1)
Hypothyrodism
29
What neurological and psychiatric disorders are common in Down's syndrome? (4)
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
What haematological disorders are common in Down's syndrome?
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
How is Down's syndrome screened for?
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
What is a strabismus?
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
What is amblyopia?
Eye fails to achieve normal visual acuity = Lazy eye
34
What is esotropia?
Inward-turning squint
35
What is exotropia?
Outward-turning squint
36
What are hypo- and hypertrophic?
Downward and upward turning squint
37
How common are squints?
1/15 children Increased incidence in learning disability + brain damage
38
What is the cause of strabismus?
Can occur in otherwise normal children - most idiopathic Rarer causes: Cataract Retinal disease / retinoblastoma Glaucoma
39
What is infantile (congenital or essential) strabismus?
Common condition characterised by a squint in an otherwise normal infant with no refractive error
40
What are the different ways of classifying strabismus?
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
What are concomitant (non-paralytic) or incomitant (paralytic) strabismus?
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
When are manifest and latent strabismus seen?
Manifest = obvious at all times Latent = only found on investigation, usually when tired
43
What are some risk factors for strabismus? (11)
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
How may strabismus present in children? (4)
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
How should a squint be examined?
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
What can be done on examination of a squint?
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
What is the corneal light reflex test?
= 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
What is the cover/uncover test?
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
What is the alternate cover test?
Similar to cover test but occluder rapidly switched from one eye to another Shows latent exe/esotropia
50
Medial rectus Direction of pull = Result of paralysis = Cranial nerve =
Medial rectus Direction of pull = medial Result of paralysis = lateral Cranial nerve = III
51
Superior rectus Direction of pull = Result of paralysis = Cranial nerve =
Superior rectus Direction of pull = upwards Result of paralysis = downwards Cranial nerve = III
52
Superior oblique Direction of pull = Result of paralysis = Cranial nerve =
Superior oblique = SO4 Direction of pull = down and out Result of paralysis = up and in Cranial nerve = IV
53
Lateral rectus Direction of pull = Result of paralysis = Cranial nerve =
Lateral rectus = LR6 Direction of pull = lateral Result of paralysis = medial Cranial nerve = VI
54
What is a pseudosquint?
Prominent epicanthal folds create the illusion of a squint
55
What is the management of a squint?
Refractive error corrected using glasses Eye patch on good eye encourages use of squinting eye Surgery to correct rectus muscle alignment
56
What squint is seen in a CN III palsy?
"Down and out"
57
Inferior oblique Direction of pull = Result of paralysis = Cranial nerve =
Inferior oblique Direction of pull = up and out Result of paralysis = down and in Cranial nerve = III
58
Inferior rectus Direction of pull = Result of paralysis = Cranial nerve =
Inferior rectus Direction of pull = downwards Result of paralysis = upwards Cranial nerve = III

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