Learning disabilities

Question 1

Which criteria have to be met in order to diagnose someone with a learning disability?

Answer 1

An IQ of under 70, loss of adaptive social functioning and it must have happened before the age of 18.

Question 2

If you have an IQ of 50-69, which category of learning disability are you in and which degree of social functioning do you have?

Answer 2

Mild IQ range. Fair language, sensory or motor deficits slight, reasonable level of independence.

Question 3

If you have an IQ of 35-49, which category of learning disability are you in and which degree of social functioning do you have?

Answer 3

Moderate IQ range, generally better receptive language.

Question 4

If you have an IQ of 20-34, which category of learning disability are you in and which degree of social functioning do you have?

Answer 4

Severe IQ range. Increased sensory and motor deficits. 50% will have epileipsy

Question 5

If you have an IQ of <20, which category of learning disability are you in and which degree of social functioning do you have?

Answer 5

Profound IQ range. Increased need and vulnerability. Developmental level about 12 months.

Question 6

What is not a learning disability?

Answer 6

People who develop a learning disability after the age of 18, people who suffer brain injury in an accident after the age of 18, people with complex medical conditions which develop after 18, hungtingtons chorea, alzheimer’s etc, people with specific learning difficulties eg dyslexia, literacy problems etc.

Question 7

Name causes of learning disabilities before birth or pre-natal?

Answer 7

Genetic or congenital eg downs syndrome, fragile X, maternal drug or alcohol abuse, FAS, congenital hyperthyroidism, hydrocephalus, infections e.g. rubella, placental insufficiency.

Question 8

Name causes of learning disabilities during birth or peri-nataly?

Answer 8

Oxygen deprivation during birth, injury secondary to birth complications, difficulties resulting from premature birth.. Intraventricular haemorrhage, hyperbilirubineamia

Question 9

Name causes of learning disabilities after birth or post-nataly?

Answer 9

Illnesses, injury or environmental conditions

Question 10

How common is down syndrome?

Answer 10

It is the most common genetic cause of learning disability (1 in 800).

Question 11

What is the mean age of death in patients with Downs?

Answer 11

60s

Question 12

What is the most common inherited cause of learning disability?

Answer 12

Fragile X syndrome.

Question 13

Which gene is mutated in fragile X syndrome and what does this lead to?

Answer 13

FMRI gene and this leads to excess CGG repeats (more than 200)

Question 14

What is the incidence of cerebral palsy?

Answer 14

0.2-0.25%

Question 15

What percentage of patients with epilepsy have a learning disability?

Answer 15

30%

Question 16

What is the average IQ range for a patient with Prader Willi syndrome?

Answer 16

50-85

Question 17

What percentage of patients with tuberous sclerosis have a learning disability?

Answer 17

50%

Question 18

What is the incidence of Downs in a mother at 25 compared to a mother at 45?

Answer 18

1 in 1400 to 1 in 30

Question 19

What are the genetic causes of Down’s?

Answer 19

Trisomy 21 (95%), translocation (4%), mosaicism (1%).

Question 20

What type of leukaemia are Down’s patients at risk of?

Answer 20

Transient leukaemia

Question 21

What is the leading non-genetic preventable cause of learning disability?

Answer 21

FAS

Question 22

What percentage of kids with FAS have a learning disability?

Answer 22

25-30%

Question 23

What are the three key features of FAS?

Answer 23

Growth retardation, characteristic facial features, CNS abnormalities/dysfunction.

Question 24

What are the facial features of FAS?

Answer 24

Low nasal bridge, small forehead, small eye openings, smooth philtrum, short nose, underdeveloped jaw.

Question 25

What is the prevalence of autism?

Answer 25

1%

Question 26

How is autism characterised?

Answer 26

It is characterised by a lack of ‘social distinct’, social interaction, communication and imagination.
There is also inflexible thinking and behaviour, rigid routines, dislike of change, circumscribed special interests, unusual sensory perception, physical clumsiness.

Question 27

What percentage of kids with autism have a learning difficulty?

Answer 27

55%

Question 28

What are the difficulties arising from autism (LEARN LAURA).

Answer 28

• Sensory distortion (visual, auditory, tactile, olfactory)
• Perceptualdistortion (of light, shade, colour, movement)
• Executive function difficulties (personal organisation and planning)
• Central coherence difficulties
(arranging the details/making connections/ details AND whole)
• Inflexibility of thought and action (leading to difficulties in making transitions)
• Socialinteractiondifficulties

Question 29

What could depressive features in a patient with learning difficulties indicate?

Answer 29

Dementia

Question 30

Why do people with autism often become very anxious?

Answer 30

People with autism find it difficult to cope with the unpredictability of everyday life which leads to high levels of anxiety.

Question 31

What condition should you always be aware of when there is a change in mood or behaviour?

Answer 31

Thyroid disorder

Question 32

When may SUDEP happen in a person with epilepsy?

Answer 32

It may happen if the person has a lot of major fits at night, if they have missed tablets, had too much alcohol, younger age, male gender, no one around when they have a major fit or if they have fitted for many years.

Question 33

How can you reduce the risk of SUDEP?

Answer 33

Taking medication regularly, epilepsy alarm at night time to monitor fits, avoiding alcohol, eating healthy, regular exercise and resting at night.

Question 34

What is phenylketonuria?

Answer 34

Commonest metabolic disorder, Autosomal recessive inheritance of a defect in the phenylalinine hydroxyls enzyme leading to a high serum phenylalanine. Characterised by learning disabilities, hyperactivity and irritability, lack of pigment, eczema, short stature and epilepsy. Treated by diet control. (tested for with the heel prick test)

Question 35

What is neurofibromatosis?

Answer 35

Mutation in the NF1 gene on chromosome 17 leading to learning disabilities (mild).

Question 36

What is tuberous sclerosis?

Answer 36

Autosomal dominant inheritance or mutations of TSC1 gene on chromosome 9 or mutation of TSC2 gene on chromosome 16. Can cause MR, autism, epilepsy, skin changes etc