Autism ✅

Question 1

What features do autism spectrum disorders have in common?

Answer 1

• Impaired social interaction
• Impaired verbal and non-verbal communication and impairment in imagination
• Restricted, repetitive, or stereotyped behaviour

Question 2

What is the prevalence of ASD in children in the UK?

Answer 2

0.9%

Question 3

What has happened to the prevalence of ASD in the UK?

Answer 3

Steady increase over the last 20 years

Question 4

What is causing the increase in prevalence of ASD in the UK?

Answer 4

Difficult to know if increased awareness and identification, or true increase in number of children with ASD

Question 5

How does the prevalence of ASD compare between boys and girls?

Answer 5

5x more common in girls

Question 6

What proportional of children with ASD have an associated learning disability?

Answer 6

Approx half

Question 7

What risk factors are associated with ASD?

Answer 7

• Family history of autism
• Preterm birth
• Parental mental health disorders
• Maternal use of sodium valproate in pregnancy
• Neonatal encephalopathy or epileptic encephalopathy
• Chromosomal disorders
• Other genetic disorders
• Muscular dystrophy

Question 8

Which parental mental health disorders in particular are a risk factor for ASD?

Answer 8

Schizophrenia and related disorders

Question 9

Give a chromosomal disorder that is a risk factor for ASD?

Answer 9

Down’s syndrome

Question 10

Give 4 genetic disorders that are associated with an increased risk of ASD

Answer 10

• Neurofibromatosis
• Tuberous sclerosis
• Fragile X
• Smith-Lemli-Opitz syndrome

Question 11

What should be looked for in the assessment of ASD?

Answer 11

• Neurocutaneous markers
• Self-harm, child neglect, or maltreatment
• Congenital anomalies or dysmorphic features
• Severe hearing or visual impairment
• Development regression

Question 12

What might neurocutaneous markers indicate in the assessment of ASD?C

Answer 12

Conditions such as tuberous sclerosis or neurofibromatosis

Question 13

What should be considered if developmental regression is found on assessment for ASD?

Answer 13

• Rett syndrome

- Epileptic encephalopathies

Question 14

What is the rate of success in identifying a specific aetiological diagnosis in children with ASD?

Answer 14

6-15%

Question 15

What genetic abnormalities have been found with ASD?

Answer 15

Numeous cytogenetically detected deletions and duplications

Question 16

What has cytogenetic testing been superseded by in ASD?

Answer 16

Microarray-CGH

Question 17

What is microarray-CGH able to detect?

Answer 17

Copy number variants in the genome

Question 18

What % of individuals with ASD have clinically significant copy number variants?

Answer 18

10%

Question 19

What features accompanying ASD increase the chance of finding copy number variants?

Answer 19

• Microcephaly
• Epilepsy
• Congenital abnomalies
• Dysmorphic features

Question 20

What is the chance of finding copy number variants in patients with ASD and other clinical features such as epilepsy, microcephaly etc

Answer 20

30%

Question 21

What is the management of ASD based upon?

Answer 21

The clinical manifestation of the disorder

Question 22

What might the management of children with ASD include?

Answer 22

• Interventions for core features of ASD
• Interventions for mental health and medical co-morbidities
• Interventions for behavioural difficulties

Question 23

What is the role of medication in ASD?

Answer 23

May be effectively used to treat specfic co-morbidities, but should not be used in the core management of ASD

Question 24

What is the role of exclusion diets in the management of ASD?

Answer 24

None