Case 13 SAP

Question 1

Autism

Answer 1

Broad range of presentations with very different impacts on societal interaction

Question 2

ADHD

Answer 2

Developmentally excessive levels of inattention, impulsivity, and hyperactivity

Question 3

ADHD prevalence

Answer 3

5-10%

Question 4

Tourette’s syndrome

Answer 4

Involuntary movement and vocal tics

Question 5

Synaesthesia

Answer 5

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

Question 6

Dyslexia

Answer 6

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

Question 7

Dyslexia prevalence

Answer 7

15%

Question 8

Dyscalculia

Answer 8

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

Question 9

Dyscalculia prevalence

Answer 9

5%

Question 10

Dysgraphia

Answer 10

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

Question 11

dysgraphia prevalence

Answer 11

2%

Question 12

Dyspraxia

Answer 12

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

Question 13

dyspraxia prevalence

Answer 13

6%

Question 14

The presence of what suggests a learning disability?

Answer 14

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

Question 15

Some causes of learning disabilities

Answer 15

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

Question 16

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

Answer 16

1.5 million

Question 17

What is the most common inherited learning disability?

Answer 17

fragile X syndrome

Question 18

Prevalence fragile X worldwide

Answer 18

1/5000

Question 19

which gene is associated with fragile X?

Answer 19

FMR1

Question 20

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

Answer 20

55 - 200

Question 21

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

Answer 21

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

Question 22

which sex is FXTAS more common in?

Answer 22

males

Question 23

typical male phenotype in fragile X

Answer 23

learning disability
long face
large and protruding ears
macro-orchidism

Question 24

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

Answer 24

30%

Question 25

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

Answer 25

25%

Question 26

features of fragile X (in descending order of prevalence)

Answer 26

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

Question 27

what percentage of autism cases is fragile X responsible for?

Answer 27

1-6%

Question 28

what is the leading genetic cause of learning disabilities?

Answer 28

down sydrome

Question 29

which chromosome is affected in Prader Willi Syndrome?

Answer 29

15 (q11-q13)

Question 30

genetic defect in Prader Willi syndrome?

Answer 30

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

Question 31

Angelman syndrome genetics

Answer 31

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

Question 32

Williams syndrome gene defect

Answer 32

microdeletion disorder (loss of 25-27 genes)

Question 33

which chromosome is effected in Williams syndrome?

Answer 33

7 (q11-23)

Question 34

cardinal symptoms of Williams syndrome?

Answer 34

CVD distinctive appearance learning disability hypersociability

Question 35

Rett syndrome

Answer 35

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

Question 36

which sex is more commonly affected by Rett syndrome?

Answer 36

female

Question 37

which gene is generally mutated in Rett syndrome?

Answer 37

MECP2

Question 38

foetal alcohol spectrum disorder

Answer 38

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

Question 39

cause of cerebral palsy

Answer 39

due to impaired development or issues surrounding birth

Question 40

primary feature of cerebral palsy

Answer 40

damage to motor cortex

Question 41

developmental illnesses in utero

Answer 41

rubella in first trimester encephalitis toxoplasmosis CMV syphilis

Question 42

main developmental illness in childhood

Answer 42

meningitis