Untitled Deck

Question 1

What is the chromosome associated with Downs syndrome?

Answer 1

21

Features include short stature, simian crease, almond shaped eyes, and mild to moderate intellectual disability.

Question 2

List the features of Angelman syndrome.

Answer 2

• Flapping hand movements
• Ataxia
• Pronounced verbal delay
• Severe to profound learning disability
• Seizures
• Sleep problems

Angelman syndrome is also known as Happy puppet syndrome.

Question 3

What is the chromosome associated with Prader-Willi syndrome?

Answer 3

15q11 paternal origin

Features include hyperphagia, excessive weight gain, and mild learning disability.

Question 4

What is a characteristic feature of Cri du chat syndrome?

Answer 4

Characteristic cry like a meowing kitten

Other features include hypotonia, hypertelorism, and microcephaly.

Question 5

What are the key features of Velocardiofacial syndrome?

Answer 5

• Cleft palate
• Cardiac problems
• Learning disabilities
• Higher rate of psychiatric disorders

Also known as Di George syndrome.

Question 6

What is the chromosome associated with Edwards’s syndrome?

Answer 6

18

Features include severe intellectual disability and congenital malformations.

Question 7

List the features of Lesch-Nyhan syndrome.

Answer 7

• Self mutilation
• Dystonia
• Writhing movements

This syndrome is linked to Xq26-27.

Question 8

What are the characteristics of Smith-Magenis syndrome?

Answer 8

• Pronounced self injurious behaviour
• Self hugging
• Hoarse voice

Linked to 17p11.

Question 9

What is the chromosome associated with Fragile X syndrome?

Answer 9

X

Features include elongated face, large ears, and shyness.

Question 10

What are the key features of Wolf Hirschhorn syndrome?

Answer 10

• Mild to severe intellectual disability
• Severe growth delay
• Microcephaly
• Seizures
• Down turned fishlike mouth

Linked to 4p.

Question 11

What is the chromosome associated with Patau syndrome?

Answer 11

13

Features include severe intellectual disability and congenital heart malformations.

Question 12

What is a common feature of Rett syndrome?

Answer 12

Hand-wringing movements

Affects girls almost exclusively and leads to profound learning disability.

Question 13

What are the features of Tuberous sclerosis?

Answer 13

• Hamartomatous tumours
• Epilepsy (80% affected)
• Autism
• ADHD
• Sleep problems

Genetically heterogeneous, linked to 9q and 16p.

Question 14

What is the chromosome associated with Williams syndrome?

Answer 14

7q11 deletion

Features include elfin-like features and advanced verbal skills.

Question 15

What are the characteristics of Rubinstein-Taybi syndrome?

Answer 15

• Short stature
• Small heads
• Friendly disposition
• Moderate learning disability

Associated with unclear genetic factors, with 16p deletions reported.

Question 16

What is the chromosome associated with Klinefelter syndrome?

Answer 16

47 XXY

Features include tall stature, low testosterone, and infertility.

Question 17

What is the chromosome associated with Jacob’s syndrome?

Answer 17

47 XYY

Tend to be tall with normal sexual development.

Question 18

What are the features of Coffin-Lowry syndrome?

Answer 18

• Short stature
• Slanting eyes
• Severe learning difficulty

Linked to Xp22.

Question 19

What is the chromosome associated with Turner syndrome?

Answer 19

45 X0

Features include short stature and webbed neck.

Question 20

What are the features of Niemann Pick disease (types A and B)?

Answer 20

• Abdominal swelling
• Cherry red spot
• Feeding difficulties

Linked to 11p15.

Question 21

Approximately 2% of the general population is estimated to have an intellectual disability (IQ <70). What is the estimated number of people with this condition?

Answer 21

985,000 people

This figure includes 828,000 adults (aged 18 or more).

Question 22

How many adults are known users of intellectual disability services in England?

Answer 22

177,000 adults

This is equivalent to 0.47% of the adult population.

Question 23

What is the average IQ score on the normal (bell-shaped) curve?

Answer 23

100

Individuals who are intellectually disabled are two standard deviations below the average (IQ below 70).

Question 24

What is the IQ range for Mild intellectual disability?

Answer 24

50-69

Approximately 85% of cases; most can lead normal lives except may need assistance in handling difficult situations.

Question 25

What percentage of cases does **Moderate intellectual disability** represent?

Answer 25

Approximately 10% ## Footnote Patients use simple language but understand speech better and can attend to basic tasks after training.

Question 26

What is the IQ range for **Severe intellectual disability**?

Answer 26

20-34 ## Footnote Approximately 3-4% of cases; many can look after themselves with careful supervision.

Question 27

What is the IQ range for **Profound intellectual disability**?

Answer 27

<20 ## Footnote Approximately 1-2% of cases; development level of a one-year-old baby and require intensive help.

Question 28

Fill in the blank: The preferred term for people with an IQ below 70 is 'people with _______'.

Answer 28

intellectual disability ## Footnote This term is used to describe individuals with this condition.

Question 29

What is the **point prevalence** of mental health problems in adults with learning disability?

Answer 29

30 to 50% ## Footnote This prevalence includes various mental health issues, including problem behaviour.

Question 30

According to Cooper (2007), what is the prevalence of **problem behaviour** in adults with learning disabilities?

Answer 30

22.5% ## Footnote This statistic is part of a population-based study on mental health problems.

Question 31

What is the prevalence of **autism** in adults with learning disabilities?

Answer 31

7.5% ## Footnote This figure is derived from a population-based study by Cooper (2007).

Question 32

What is the prevalence of **affective disorder** in adults with learning disabilities?

Answer 32

6% ## Footnote This statistic reflects the mental health challenges faced by this population.

Question 33

What is the prevalence of **psychotic disorder** in adults with learning disabilities?

Answer 33

4% ## Footnote This is one of the specific mental health problems identified in the study.

Question 34

What is the prevalence of **anxiety disorder** in adults with learning disabilities?

Answer 34

4% ## Footnote This prevalence rate indicates the mental health struggles within this group.

Question 35

What is the prevalence of **schizophrenia** in adults with learning disabilities?

Answer 35

3% ## Footnote The prevalence of schizophrenia is notably higher in this population compared to the general population.

Question 36

What is the prevalence of **ADHD** in adults with learning disabilities?

Answer 36

1.5% ## Footnote This figure is part of the mental health problem statistics for this demographic.

Question 37

What is the prevalence of **personality disorder** in adults with learning disabilities?

Answer 37

1% ## Footnote This statistic highlights the range of mental health issues faced by individuals with learning disabilities.

Question 38

What is the prevalence of **obsessive-compulsive disorder** in adults with learning disabilities?

Answer 38

0.7% ## Footnote This is one of the lower prevalence rates among the mental health problems listed.

Question 39

True or false: **Major depressive disorder** can be diagnosed at all IQ levels in individuals with learning disabilities.

Answer 39

TRUE ## Footnote However, the diagnosis may be missed or misinterpreted as challenging behaviour.

Question 40

Individuals with learning disabilities have a prevalence rate for **schizophrenia** that is approximately how many times greater than the general population?

Answer 40

Three times greater ## Footnote This highlights the increased vulnerability of this population to certain psychiatric illnesses.

Question 41

People with learning disabilities are more vulnerable to the adverse effects of **loss life events** and are more likely to develop what disorder?

Answer 41

Adjustment disorder ## Footnote This indicates the psychological impact of life changes on individuals with learning disabilities.

Question 42

What mental health condition is at least as common in people with learning difficulties as in the general population?

Answer 42

PTSD ## Footnote This suggests that trauma-related issues are prevalent in this group.

Question 43

Stimulant drugs are thought to be less effective in children with learning disability and are relatively contraindicated in which conditions?

Answer 43

* Tourette's * Autism ## Footnote In these cases, stimulant drugs may precipitate tics.

Question 44

Schizophrenia cannot be reliably diagnosed in individuals with an IQ below _______.

Answer 44

45 ## Footnote This limitation affects the diagnosis of schizophrenia in individuals with significant cognitive impairments.