Neurodevelopmental Disorders

Question 1

What is autism spectrum disorder?

Answer 1

Neuro developmental disorder that affects a person’s social interaction, communication and behaviour
Usually diagnosed in childhood

Question 2

Risk factors for ASD

Answer 2

Premature
Perinatal hypoxia
Advanced maternal or paternal age

Question 3

ASD is a feature of these genetic syndromes

Answer 3

Fragile X syndrome
Tuberous sclerosis
Angelmann syndrome

Question 4

Pathophysiology of ASD

Answer 4

Genetic aetiology: microarray And chromosomal analysis
Multiple genes and environmental factors involved
Sub-cortical hyperintensitiies in temporal poles

Question 5

Clinical features of ASD

Answer 5

Abnormalities of social interaction
Impaired social communication
Restrictive or repetitive activities 
Sensory issues 
Severely restricted diet
Issues with hygiene 
Self-harm as part of motor mannerisms
Not tolerate loud noises or seem to have a very high pain threshold

Question 6

Abnormality of social interaction

Answer 6

Poor eye contact
Failure to use facial expression or body language
Problems making friends with peers, difficulty in reading social situations

Question 7

Impaired social communication

Answer 7

Delay or failure to develop either spoken language or sign language to communicate with others
Failure to initiate or continue conversations
Abnormal use of language: echolalia
Abnormal intonation, pitch, rate or rhythm of speech

Question 8

Restrictive or repetitive activities

Answer 8

Children display preoccupations with unusual subjects
All-encompassing obsession with the minutiae of a subject
Need for routine
Abnormal preoccupation with toys and other materials
Motor mannerisms: hand flapping, repetitive and compulsive movements

Question 9

Examination of a child with ASD

Answer 9

Skin stigmata or neurofibromatosis or tuberous sclerosis using a Wood’s light
Signs of injury: self-harm or child maltreatment
Congenital anomalies and dysmorphic features including microcephaly or microcephaly

Question 10

Diagnosis of autism

One of the following features present from before the age of 3

Answer 10

A lack of social attachments
Abnormal/ delayed receptive or excessive speech development
Abnormal or lack of symbolic play

Question 11

Differential diagnosis of ASD

Answer 11

Learning difficulties
Attachment disorders: fail to seek comfort when distressed or fail to be appropriately worried when picked up by someone unfamiliar
Rett’s syndrome: speech delay and repetitive and movements
Schizophrenia
Specific language disorders

Question 12

Investigations for ASD

Answer 12

Symptoms should present consistently in different environments
MDT diagnosis, 2 people or more
School report
Educational psychologist, SALT, community paediatrician or child psychologist

Question 13

Management of ASD

Answer 13

Behavioural management strategies: visual timetables, preparation and explanation for changes in routine
Educational measures: higher needs funding, education, health and care plan for school, environment of a special school
Adequate treatment of co-morbid conditions

Question 14

Co-morbid conditions in ASD

Answer 14

ADHD
Sleep disorders
Learning disabilities
Mental health conditions

Question 15

What is ADHD

Answer 15

Neurobehavioural disorder
Hyperactivity, inattention, impulsivity
Inability to focus, stay still or concentrate
Impacts their daily life, particularly their education

Question 16

Co-morbid conditions of ADHD

Answer 16

ASD
Learning difficulties (dyslexia)
Communication disorders
Oppositional defiance disorder
Depression 
Anxiety 
Tics 
Tourette syndrome

Question 17

Pathophysiology of ADHD

Answer 17

Structural and functional changes in the brain
Changes in the levels of certain neurotransmitters, such as dopamine
Genetic component, often running through families
Evidence of interplay between genetic and environmental factors

Question 18

Diagnosis of ADHD

Answer 18

ICD-10
DSM-5
Symptoms must be of early onset (before 6) and present for some time before diagnosis
Must be present in two or more settings
Must be out of context for the child’s age and IQ

Question 19

Clinical features of ADHD

Answer 19

Hyperactivity, inattention, impulsivity
Impaired attention and over-activity
Disinhibition, recklessness and lack of adherence to social norms

Question 20

DSM-V criteria

Answer 20

Include three subtypes of ADHD- combined, inattentive, hyperactive/impulsive

At least 6 of the criteria from either inattention category or hyperactivity/impulsivity category are met and have been present from before the age of 12 for at least 6 months
Impairment must be present in more Than one setting
Evidence of symptoms impairing the child’s functioning

Question 21

Inattention criteria DSM-V

Answer 21

Easily distracted by extraneous stimuli
Forgetful in daily activities
Often has difficulty sustaining attention in tasks or play activities

Question 22

Hyperactivity criteria DSM-V

Answer 22

Often fidgets with hand or feet or squirms in seat
Often talks excessively
Is often on the go or often acts as if driven by a motor

Question 23

Impulsivity criteria DSM-V

Answer 23

Often has difficulty waiting turn

Often bursts out answers before questions have been completed

Question 24

Examination for ADHD

Answer 24

CVS examination
HR, BP
Height and weight should be measured and plotted on a growth chart

Question 25

Differential diagnosis ADHD

Answer 25

Auditory processing disorder
Oppositional-defiant disorder or conduct disorders
Depression
Anxiety

Question 26

ADHD investigations

Answer 26

Conner’s questionnaire
School observation: child’s functioning and interaction in the classroom, school report to find out the child’s academic attainment
Information should be obtained from school, home or any other regularly visited environment

Question 27

ADHD management pre-school children

Answer 27

Medication not recommended
Parents should be offered a parent training/education programme and nursery/pre-school teachers should be informed of the child’s diagnosis, severity of impairment, care plan and special educational needs

Question 28

Management of mid-moderate ADHD in school-age children with moderate impairment

Answer 28

First line treatment is behavioural strategies
Usually delivered in the form of parent education sessions
CBT and social skills training can also be used
Teachers should also have received training on behavioural strategies for the classroom
Strategies only effective when family are willing to engage

Question 29

Severe ADHD in school-age children with severe impairment

Answer 29

Medication is offered as the first line treatment
If medication is declined by child or family, they should be advised of the benefits of medication and if still unwilling, offered a group parent training/education programme

Question 30

Medications licences for ADHD

Answer 30

Methyphenidate : medikinet, concerta, stimulant medication

Atomoxetine: strattera, if associated tic/anxiety disorder, risk of stimulant medication being abused or redirected, SE: potential for liver damage

Lisdexamfetamine: elvanse, stimulant medication, when methylphenidate is not effective at maximum doses

Guanfacine: intuniv, non-stimulant medication

Antipsychotics:

Question 31

Side effects of ADHD medication

Answer 31

Raised blood pressure
Palpitations
Disturbed sleep
Impaired growth and appetite suppression
Aggression, emotional, anxious, depressed

If child has history of significant heart disease, may need an ECG and/or referral for cardiology opinion

Question 32

Adverse outcomes of ADHD

Answer 32

Increased substance abuse
More criminal convictions
Lower educational attainment
Unemployment