Community

Question 1

What is autism?

Answer 1

A spectrum of conditions which affect social and communication skills

Question 2

What are the risk factors for autism?

Answer 2

Male sex (one of the most significant risk factors)
Family history/other siblings affected
Fragile X syndrome

Question 3

What are the core features of autism?

Answer 3

Social skills- poor eye contact, difficulty empathizing, social cues missed, lack of imaginative play

Language- speech delay, literal interpretation of play, echolalia, restricted gestures and facial expressions

Repetitive behaviour- hand flapping, tiptoe gait, unusual interests, strict routine adherence

Question 4

What is aspergers?

Answer 4

It is a variant and is on the lesser end of the Autism spectrum.
People with autism language and IQ is usually normal.

Question 5

What investigations would you do for children with autism/what would you ask in the history?

Answer 5

. Ask about their development- speech delay, social impairment.
. Milestones- when was their first smile?have they ever played with other children?
With autism, development is usually normal for the first year, after this there may be a delay
. Ask about family history
. Any regression if skills (this is unusual)

In terms of investigations, you may want to do:
Hearing tests (children with hearing impairement often have behavioural issues due to this)
Genetic tests for tuberous sclerosis and fragile X
Exclusion of metabolic syndromes- PKU, excluded with heel prick test
Diagnoses is made by observation of the child against set criteria, once other causes have been excluded

Question 6

What is the differential diagnosis for aspergers?

Answer 6

Fragile X 
Tuberous sclerosis 
Hearing impairement 
PKU 
Global developmental delay

Question 7

How do you manage autism?

Answer 7

Biological
Holistic approach
Community paediatrician
Antipsychotics for aggression especially if child injures themselves
Melatonin can be used for severe sleep dysregulation

Psychological
Support groups and counselling encouraged for the family
Psychological co morbidities are common and should be managed by experienced professionals

Social
Applied behavioural analysis is useful for working on reducing repetitive behaviours and teaching social skills .
Educational support at school
Speech and occupational therapist input

Question 8

What co morbidities often occur alongside autism?

Answer 8

. 1 in 4 develop seizures
. 3 in 4 have a moderate- severe learning difficulty
. A significant number have attention issues with hyperactivity

Question 9

What is ADHD?

Answer 9

Presence of all three of the following: hyperactivity, impulsiveness, inattention beyond what is appropriate for the childs age.

Question 10

What are the risk factors for ADHD?

Answer 10

Male sex

Family history of ADHD/learning difficulties/substance misuse

Question 11

What are the clinical features of ADhD?

Answer 11

Impulsivity
Hyperactivity
Inattention

Question 12

How do you diagnose ADHD?

Answer 12

The symptoms of hyperactivity, impulsivity and inattention must persist for more than 6 months, in more than one setting and impair the childs social functioning.

Question 13

How do you examine ADHD

Answer 13

Is there a global developmental delay or learning difficulty
Visual acuity/ hearing tested
Observation of the parent child relationship

Question 14

What are the differentials for ADHD?

Answer 14

Normal child 
Developmental delay 
Learning difficulty 
Psychological distress- bullying, abuse 
Oppositional defiance disorder 
Fragile X

Question 15

How do you manage ADHD?

Answer 15

Management with an MDT
Starts with behaviour management- positive reinforcement
Parental training and education improves outcomes

Question 16

What is the treatment for ADHD in terms of medical?

Answer 16

Methylphenidate
This is a CNS stimulant which blocks both the dopamine and noradrenaline transporters the synaptic membrane

This inhibits the reuptake of dopamine and noradrenaline

Net increases in dopamine and noradrenaline in neuronal synapses

Imcreased neurotransmission of these substances

Question 17

What are the side effects of methylphenidate?

Answer 17

Anxiety 
Tremors 
Hypertension 
Insomnia 
Anorexia 
Hyperhidrosis 
Blood pressure should be checked annually and treatment caesed if hypertension develops.

Question 18

What is down syndrome?

Answer 18

Also known as trisomy 21, the most common disorder of chromosome number (aneuploidy- abnormal number of chromosomes)

Question 19

What is the pathophysiology of down syndrome?

Answer 19

. Non disjunction
. Genetic mosaicism
. Translocations

Question 20

How do you diagnose down syndrome?

Answer 20

Triple testing
Amnioscentesis
Chorion villus sampling
Genetic testing with a karyotype study usually confirm diagnosis.

Question 21

What are the clinical features of down syndrome?

Face, endocrine, others, neuro, GI, cardio

Answer 21

Face- brachycephaly
Flat nasal bridge
Up slanting palpebral fissures
Macroglossia

Eneocrine: hypothyroidism

Other: single palmar crease, sandal gap between toes, increased infection risk, cataracts, hearing impairment.

Neuro- hypotonia, development delay and learning disability, early onset Alzheimers, high risk of mental health issues

GI- feeding difficulties, 10% have anatomical defect (duodenal atresia), imperforate anus, higher risk of coeliac and Hirschsprung disease

Cardiac- VSD and AVSD

Question 22

What are the clinical features of Down syndrome in terms of haematology?

Answer 22

polycythaemia is common at birth, they have an increased risk of leukaemia (10-20 fold risk)

Question 23

What is the management of down syndrome?

Answer 23

This differs depending on each childs specific needs.
Large proportion will have a congenital anomaly repair early in life,
Feeding issues are common secondary to hypotonia, babies may need NG feeding support
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Question 24

What is the triple test that can be done for down syndrome?

Answer 24

Prenatal maternal test which looks at 3 markers…
. Alpha fetoprotein
. Human chorionic gonadotrophin
. Unconjugated oestradiol

High risk= decreased AFP, increased HCG, decreased UE

Question 25

What is cerebral palsy?

Answer 25

Non progressive permanent impairment of motor/postural development which arises in the immature brain and is often associated with other abnormalities (communicative, sensory, behavioural, seizure).