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Learning Disabilities > Clinical Aspects > Flashcards

Clinical Aspects Flashcards

1
Q

What IQ for LD, mild, moderate, severe?

A

<70= LD. Mild= 50-70
Moderate 35-50
Severe 20-40
Profound <20

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2
Q

What is the functional definition for LD?

A

Dysfunction or impairment in >2 areas of communication, work, self care or social skills

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3
Q

% of unknown causes for LD (mild and severe)

A

80% for mild

30-50% severe

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4
Q

What 3 areas is dysmorphology concerned with?

A

1) deformation eg. Excessive moulding
2) disruption eg breakdown of normal development
3) malformation- eg isolated cleft lip and/or palate

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5
Q

Words for

1) shortening of proximal limbs
2) shortening of distal limbs
3) shortening of digits

A

1) rhizomelic
2) mesomelic
3) acromelic

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6
Q

What does syndactyly mean?

A

Joined together

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7
Q

What does USPF and DSPF mean ?

A

Upslanting palpebral fissures (corner of ur eyes)

Downslanting palpebral fissures

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8
Q

Indications for chromosome analysis

A

1) developmental delay
2) IUGR/ failure to thrive
3) microcephalic
4) facial dysmorphism
5) multiple congenital malformations

2 or more required

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9
Q

6% of unexplained mr is due to what?

A

Cryptic telomeric rearrangement - can test with multi probe fish

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10
Q

How many fragile sites in humans? What are they sensitive to?

A

>

  1. Sensitive to folate
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11
Q

Where is FRAXA and FRAXE?

A 
FRAXA = Xq27.3
FRAXE = Xq28
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12
Q

What is the Sherman paradox?

A

Risk of developing mr is dependent on the individuals position in the pedigree with risk increasing in later generations

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13
Q

Characteristics of Fragile x: occurrence, when does classic features evolve, facial features, behaviour.

A

1 in 5,500 boys
Evolves at puberty
Long face, prominent ears, large nose
IQ 40, hyperactivity, impulsiveness, hand flapping

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14
Q

What causes fragile x?

A

cGG trinucleotide repeat in 5’UTR of FMR1 within non coding exon 1.

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15
Q

What is FXTAS? What are symptoms?

A

Fragile x associated tremor and ataxia syndrome.

Late onset progressive cerebellum ataxia and intention tremor in makes with permutations.

Peripheral neuropathy, short term memory loss, muscle weakness and autonomic dysfunction

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16
Q

Occurrence in f FXTAS in males and females?

A

40-45% of males

8-16.5% of females

17
Q

What size permutations are at risk of expansion to full mutation?

A

52-70 repeats - no chance
80-89 76% risk
100+ 100% risk

18
Q

What causes FRAXE and when is it tested for?

A

GCC expansion in FMR2 on Xq28

Tested if family history of x linked mental retardation

19
Q

What % of patients with LD have a cytogenetic abnormality?

A

16%

20
Q

After downs, patau and Edwards what are th most common autosomal trisomies (mosaic)

A

8 and 9

21
Q

True or false: no autosomal monosomy is viable at term

A

True

22
Q

What trisomy is the most common cause of spontaneous miscarriage?

A

Trisomy 16

23
Q

What is the most common cause of DS?

A

Non dysjunction event at maternal meiosis 1st division 94%

24
Q

Second most common cause f DS?

A

Unbalanced robertsonian translocation =4%

25
Q

What causes mosaic DS? (2%)

A

Post zygotic, mitotic non disjunction event

Can also occur as a corrective event - aka trisomy rescue

26
Q

Percentages of DS caused by non-disjunction in mat I, mat II, Pat I, Pat II?

A

Mat I = 68%
22%
5%
5%

27
Q

Features of patau

A

Microcephaly
Polydactyly
Holoprosencephaly- cleft palate nose and he anomalies

28
Q

Features of Edwards

A

Microcephaly
Heart problems
Clenched hands and rocker bottom feet

29
Q

Features of mosaic trisomy 8

A

Mild to moderate MR

Deep plantar furrows - palms and soles of feet

30
Q

Features of mosaic trisomy 9

A

MR
Congenital heart disease
Downturned corners of the mouth

31
Q

What are ESACs?

A

Extra small additional chromosomes also called markers

Often mosaic

32
Q

How to investigate esacs?

A

C- banding to see if contains heterochromatin or euchromatin

Silver staining to see if contains Acrocentric non coding material

33
Q

Genetic cause of pallister killian syndrome?

A

Mosaicism for an additional isochromosome made up of two 12 p. (Tetrasomy 12p)

34
Q

How to test for pallister killian

A

Rarely seen in metaphase from blood but can be through FIsh of skin tissue r sometimes blood

35
Q

Features of pallister killian - physical and behavioural

A

Hypopigmented hyperpigmented skin
Mr, hypotonia and epilepsy
High forehead, sparse hair, epicanthal folds

36
Q

What is the cause of cat eye syndrome

A

Mosaicism Small isochromosome- 2 copies of proximal part of 22q
Often tissue specific

37
Q

Besides PKS and cat eye name two other mosaic esacs

A

I(15)(q11)

I(5)(p10)

Learning Disabilities (7 decks)

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