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Medicine Year 1 > Case 13 SAP > Flashcards

Case 13 SAP Flashcards

1
Q

Autism

A

Broad range of presentations with very different impacts on societal interaction

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2
Q

ADHD

A

Developmentally excessive levels of inattention, impulsivity, and hyperactivity

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3
Q

ADHD prevalence

A

5-10%

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4
Q

Tourette’s syndrome

A

Involuntary movement and vocal tics

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5
Q

Synaesthesia

A

Stimulation to one cognitive pathway leads to unintentional experiences in another cognitive or sensory neurological pathway

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6
Q

Dyslexia

A

Difficulties in decoding writing leading to slow reading, thought to relate to impaired function of reading network

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7
Q

Dyslexia prevalence

A

15%

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8
Q

Dyscalculia

A

Difficulty performing maths, possibly linked to visuo-spatial working memory

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9
Q

Dyscalculia prevalence

A

5%

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10
Q

Dysgraphia

A

difficulty writing as a process or legibility. related to development coordination disorder

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11
Q

dysgraphia prevalence

A

2%

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12
Q

Dyspraxia

A

inability to utilise voluntary motor abilities effectively in all aspects of life from play to structured skill task

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13
Q

dyspraxia prevalence

A

6%

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14
Q

The presence of what suggests a learning disability?

A

significantly reduced ability to:
understand new or complex information
learn new skills
cope independently
also lasting effect on development if started before adulthood

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15
Q

Some causes of learning disabilities

A

inheritance, genetic mutations, chromosomal abnormalities, brain damage around birth, illness of mother in pregnancy, illness of child in early years

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16
Q

around how many people in the UK have a learning disability?

A

1.5 million

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17
Q

What is the most common inherited learning disability?

A

fragile X syndrome

18
Q

Prevalence fragile X worldwide

A

1/5000

19
Q

which gene is associated with fragile X?

A

FMR1

20
Q

how many repeats in the FMR1 gene are needed for pre-mutation?

A

55 - 200

21
Q

what other conditions is pre-mutation associated with in fragile X?

A

premature ovarian failure (females)
fragile X-associated tremor/ataxia syndrome (FXTAS)

22
Q

which sex is FXTAS more common in?

A

males

23
Q

typical male phenotype in fragile X

A

learning disability
long face
large and protruding ears
macro-orchidism

24
Q

chance of heterozygous female with FM allele having normal IQ (fragile X)

A

30%

25
Q

chance of heterozygous female with FM allele having learning disability and IQ < 70 (fragile X)

A

25%

26
Q

features of fragile X (in descending order of prevalence)

A

psychomotor delay
aggressiveness
attention problems (including ADHD)
anxiety disorder
ASD
sleep problems
epilepsy

27
Q

what percentage of autism cases is fragile X responsible for?

A

1-6%

28
Q

what is the leading genetic cause of learning disabilities?

A

down sydrome

29
Q

which chromosome is affected in Prader Willi Syndrome?

A

15 (q11-q13)

30
Q

genetic defect in Prader Willi syndrome?

A

loss of expression of genes from error in genomic imprinting in both male and female gametogenesis

31
Q

Angelman syndrome genetics

A

paternal genes for Prader Willi and maternally expressed UBE3A gene in same region

32
Q

Williams syndrome gene defect

A

microdeletion disorder (loss of 25-27 genes)

33
Q

which chromosome is effected in Williams syndrome?

A

7 (q11-23)

34
Q

cardinal symptoms of Williams syndrome?

A

CVD
distinctive appearance
learning disability
hypersociability

35
Q

Rett syndrome

A

severe neurodevelopmental disorder with loss of attained developmental milestones around 6-12 months of age

36
Q

which sex is more commonly affected by Rett syndrome?

A

female

37
Q

which gene is generally mutated in Rett syndrome?

A

MECP2

38
Q

foetal alcohol spectrum disorder

A

prenatal exposure leading to developmental deficits, characteristic facial appearance, reduced growth and concentration, and learning disability

39
Q

cause of cerebral palsy

A

due to impaired development or issues surrounding birth

40
Q

primary feature of cerebral palsy

A

damage to motor cortex

41
Q

developmental illnesses in utero

A

rubella in first trimester
encephalitis
toxoplasmosis
CMV
syphilis

42
Q

main developmental illness in childhood

A

meningitis

Medicine Year 1 (23 decks)

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