ADHD + Learning disabilities

Question 1

What is the definition of ADHD?

Answer 1

characterized by an early onset,
persistent pattern of inattention, hyperactivity and impulsivity that are more frequent and severe than in individuals at a
comparable stage of development, and are present in more than one situation. Children may present with difficulties at school
and at home

Question 2

What is the aetiology of ADHD?

Answer 2

Genetic: Twin and adoption studies indicate a genetic predisposition (concordance rate of 82% for
monozygotic twins). The DRD4 and DRD5 genes are thought to play a role.
Neurochemical There are reports of a link between hyperkinetic disorder and the genes coding for the
dopamine system, suggesting an abnormality in the dopaminergic pathways.
Neurodevelopmental: Neurodevelopmental abnormalities of the pre-frontal cortex are hypothesized based on
symptoms of recklessness, inattention and learning difficulties.
Social: There is an association with social deprivation and family conflict as well as parental cannabis
and alcohol exposure.

Question 3

Epidemiology and RFs of ADHD

Answer 3

Male Males are three times more likely to be affected than females.
Family history Family history is a strong determinant of hyperkinetic disorder with twin studies reporting about
70% heritability.
Environmental risk
factors
Social deprivation and family conflict as well as parental cannabis and alcohol exposure.

Question 4

What are the 3 core features of ADHD

Answer 4

Inattention
Hyperactivity
Impulsivity

Question 5

What are the features of inattention?

Answer 5

Not listening when spoken to
Highly distractible
Reluctant to engage in activities that require persistent mental effort eg school work
Forgetting or regularly losing belongings

Question 6

Features of hyperactivity

Answer 6

Restlessness and fidgeting or tapping with hands or feet
Recklessness
Running and jumping around in inappropriate places
Difficulty engaging in quiet activities
Excessive talking or noisiness

Question 7

Features of impulsivity

Answer 7

Difficulty waiting for their turn
Interrupting
Prematurely blurting out answers
Temper tantrums and aggression
Disobedient
Running into the street without looking

Question 8

ICD-10 criteria for ADHD

Answer 8

A. Demonstrable abnormality of attention, activity and impulsivity at home, for the age and developmental level of the child.
B. Demonstrable abnormality of attention and activity at school or nursery (if applicable), for the age and developmental level
of the child.
C. Directly observed abnormality of attention or activity. This must be excessive for the child’s age and developmental level.
D. Does not meet criteria for a pervasive developmental disorder, mania, depressive or anxiety disorder.
E. Onset before the age of 7 years.
F. Duration of at least 6 months.
G. IQ above 50.

Question 9

History for ADHD?

Answer 9

History:
‘Do you find that your child…’
1. Inattention: ‘…is reluctant to engage in activities which need sustained mental effort, such as schoolwork?’, ‘…
often leaves play activities unfinished?’,
‘…regularly loses their possessions?’, ‘…does not listen when spoken to?’
2. Hyperactivity: ‘…is constantly fidgeting, jumping or running around?’, ‘…is unable to remain still?’, ‘…is difficult to
engage in quiet activities?’
3. Impulsivity: ‘…cannot wait their turn when playing in groups?’, ‘…blurts out answers to questions before the
question has been completed?’

Question 10

MSE for a child with ADHD

Answer 10

EAppearance
&
Behaviour
Fidgety. Unable to sit still. Running around, jumping or climbing inappropriately. If toys offered, will flit
from one to another. If parents are asked a question, the child replies with the answer before the
parents can.
Speech Talks loudly, even at inappropriate times and makes excessive noise.
Mood Normal but may be low if co-morbid depressive disorder.
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Thought No disorders of thought.
Perception No hallucinations.
Cognition Poor attention levels. Lack of concentration.
Insight Poor.

Question 11

Investigations for ADHD

Answer 11

x NOTE: As problem behaviours vary in different settings, it is important to obtain information from teachers, as well as
the parents and the child. For adults seeking a diagnosis, school reports are usually reviewed and a collateral history
from parents is helpful.
Blood tests including TFTs (to rule out thyroid disease).
Hearing tests: Examine middle/inner ear with an otoscope and consider a pure tone audiogram.
Rating scales: e.g. Conners’ rating scale and the Strengths and Difficulties questionnaire.

Question 12

Differential Diagnoses for ADHD

Answer 12

Learning disability/Dyslexia
Oppositional defiant disorder (see Key facts 1)
Conduct disorder (see Key facts 1)
Autism
Sleep disorders
Mood disorders (particularly bipolar)
Anxiety disorder
Hearing impairment

Question 13

Co morbidities of ADHD

Answer 13

70% of hyperkinetic disorder patients have co-morbidities including learning difficulties (e.g. ASD, dyslexia), dyspraxia,
Tourette’s syndrome and mood/anxiety disorders.
Conduct disorder (co-exists in 50% of hyperkinetic children) is a repetitive and severe pattern of antisocial behaviour
including aggression, destruction of property, deceitfulness (or stealing) and major violations of age-appropriate social
expectations. Risk factors include being male, abuse as a child, poor socioeconomic status and parental psychiatric
disorders. It is the most common psychiatric disorder of childhood.
Oppositional defiant disorder is defiant and disruptive behaviour against authoritative figures but is less severe than
conduct disorder, in that violations of law and physical abuse of others are far less common.

Question 14

General management of ADHD

Answer 14

Hyperkinetic disorder is diagnosed by specialists and treatment depends on whether the patient is pre-school, school-age or
adult, as well as the severity of symptoms.
Support for parents and teachers is crucial. Support groups include add+up and ADDISS.
If there is a clear link between food or drink consumed and behaviour, parents should be advised to keep a food diary and a
referral to a dietician can be made if appropriate.

Question 15

Pre-school management of ADHD

Answer 15

Parent-training and education programmes (psychoeducation) are first-line.
Parent-training is behavioural with parents being helped to reinforce positive behaviour and to find alternative ways of
managing disruptive behaviour.
Drug treatments are not recommended.

Question 16

School goer management of ADHD

Answer 16

Psychoeducation and CBT (and/or social skills training) should be provided.
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In severe hyperkinetic disorder in school-age children, drug treatment is first-line with the CNS stimulant methylphenidate
(Ritalin) being the usual choice.
Atomoxetine (and if this fails, dexamfetamine) is the alternative when methylphenidate has been ineffective. Side effects
should be monitored for.
Side effects of CNS stimulants include headache, insomnia, loss of appetite and weight loss.
Recent studies show no clear link between extended stimulant use and growth retardation.

Question 17

What is the definition of Learning disabilities?

Answer 17

Learning disability (LD) is a state of arrested or incomplete development of the mind. It is characterized by impairment of
skills manifested during the developmental period, and skills that contribute to the overall level of intelligence.
ICD-10 divides LD into four categories depending on the severity (see ICD-10 box).
A triad must exist to constitute a learning disability. This includes (1) Low intellectual performance (IQ below 70). (2) Onset
at birth or during early childhood. (3) Wide range of functional impairment including social handicap due to reduced ability to
acquire adaptive skills (activities of daily living).

Question 18

What is the ICD-10 Criteria for the diagnosis of LD?

Answer 18

Mild → IQ = 50–70 (Mental age = 9–12)
Moderate → IQ = 35–49 (Mental age = 6–9)
Severe → IQ = 20–34 (Mental age = 3–6)
Profound → IQ = <20 (Mental age <3 years)

Question 19

What is the pathophysiology/ aetiology of learning disabilities?

Answer 19

Perinatal: Birth asphyxia, intraventricular haemorrhage, neonatal sepsis.
Neonatal: Hypoglycaemia, meningitis, neonatal infections, kernicterus.
Postnatal Infection (e.g. meningitis, encephalitis), anoxia, metabolic (e.g. hypothyroidism, hypernatraemia), cerebral
palsy.
Environmental: Neglect/non-accidental injury, malnutrition, socioeconomically deprived.
Psychiatric: Autism, Rett’s syndrome.
Antenatal: Congenital infection (rubella, CMV, toxoplasmosis), nutritional deficiency, intoxication (alcohol, cocaine,
lead), endocrine disorders etc
Genetic: Down’s syndrome, fragile X syndrome, Cri du chat, Prader–Willi etc

Question 20

Epidemiology and RFs for Learning disabilities

Answer 20

The prevalence of LD is 2%: 85% of these are mild, 10% moderate and 5% severe or profound.
The ♂ to ♀ ratio is 3:2.
The most common risk factor is a positive family history of LD.

Question 21

Clinical features of LD

Answer 21

Mild LD: Usually identified at a later age when the child starts school. They have adequate language abilities,
social skills and self-care. There may be difficulties in academic work. Most live independently but may
need some support in housing and employment.
Moderate LD:
Able to communicate but language is limited. May need supervision for self-care but able to do simple
work.
Severe LD:
There is a marked degree of motor impairment. Little or no speech in early childhood but may eventually
use simple communication. May be able to perform simple tasks under supervision. They may have
associated physical disorders.
Profound LD:
Severe motor impairment and severe difficulties in communication. Have little or no self-care. Frequently
have physical disorders and require residential care.

Question 22

Common disorders in LD:

Answer 22

Common physical disorders include motor disabilities (e.g. ataxia, spasticity), epilepsy, impaired hearing and/or vision and
incontinence (faecal and urinary).
Specific causes are uncommon in mild LD whereas they are usually identifiable in severe or profound LD.

Question 23

Commonest cause of LD?

Answer 23

Down’s syndrome: A genetic
disorder (trisomy 21)
characterized by LD,
dysmorphic facial features
and multiple structural
abnormalities. It is the
commonest cause of LD.

Question 24

Physical features of Down syndrome?

Answer 24

PROBLEMS
Palpebral fissure (up
slanting), Round face,
Occipital + nasal
flattening, Brushfield
spots (pigmented spots
on iris)/Brachycephaly,
Low-set small ears,
Epicanthic folds, Mouth
open + protruding
tongue, Strabismus
(squint)/Sandal gap
deformity/Single
palmar (Simian) crease

Question 25

Medical problems of Down syndrome?

Answer 25

heart defects
(ventricular and atrial
septal defects, ToF),
hearing loss, visual
disturbance (cataracts,
strabismus,
keratoconus), GI
problems
(oesophageal/duodenal
atresia, Hirschsprung’s,
coeliac),
hypothyroidism and
haematological
212
malignancies (AML,
ALL), increased
incidence of
Alzheimer’s

Question 26

Features of Fragile X syndrome@

Answer 26

The second most common cause of LD. A sex-linked disorder with developmental, physical and
behavioural problems.
Physical features: Large, protruding ears, long face, high arched palate, flat feet, soft skin, lax joints.
Medical problems: Mitral valve prolapse.

Question 27

Features of Prader-willi syndrome:

Answer 27

Due to a deletion of part of chromosome 15. Characterized by hypotonia and developmental delay as an
infant, and obesity, hypogonadism and behavioural problems (compulsive eating, disruptive behaviour) in later years

Question 28

Features of Cri du chat:

Answer 28

: Caused by a partial deletion of chromosome 5. Those affected have a high-pitched cry like a cat. Low birth
weight and feeding difficulties are also characteristic.

Question 29

History for LD?

Answer 29

‘Did you have any issues during your pregnancy?’, ‘Were all of the antenatal scans normal?’, ‘Was the baby
premature?’, ‘Were there any complications during the delivery?’, ‘What was the condition of the baby when
he/she was born?’ (pregnancy related factors)
‘Is there any history of conditions, specifically learning disability, which run in the family?’, ‘Do you and your
partner have any mutual relatives?’ (family related factors)
Depending on age: ‘How does your child cope with daily activities?’, ‘Did they reach their milestones at the proper
time, for instance at what age did they start walking?’, ‘Do they have any known medical problems?’ (clinical
features)
Ask about associated medical problems and screen for co-morbid psychiatric problems.

Question 30

MSE for LD?

Answer 30

Appearance will vary depending on the cause of learning disability, for example the type of genetic disorder (see
Key facts 1).
The extent of behaviour problems is determined by the level of LD. In more severe cases there may be motor
impairment. There is often speech disturbance and mood can be low or normal.

Question 31

Examinations to be performed for LD?

Answer 31

Cardiovascular, respiratory, neurological (cranial nerves and peripheral), weight/height/head
circumference, developmental assessment.

Question 32

Common physical co-morbidities of LD?

Answer 32

Early-onset Alzheimer’s disease,
schizophrenia, anxiety and depressive disorders, autism, hyperkinetic disorder, eating disorders, personality disorders.

Question 33

Investigations for LD

Answer 33

Before birth: Amniocentesis, chorionic villus sampling, genetic testing and karyotyping.
For Down’s syndrome: Two methods, (1) Serum screening (β-hCG and pregnancy-associated plasma
protein A) + nuchal translucency; (2) Quad test (β-hCG, α-fetoprotein, inhibin A, estriol).
After birth:
Bloods: FBC (infection), TFTs (hypothyroidism), glucose (hypoglycaemia), serology (ToRCH infections).
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Brain imaging: CT head and/or

Question 34

Management for LD

Answer 34

A multidisciplinary approach is vital. Care is provided by a variety of health care professionals including a psychiatrist,
speech and language therapist, specialist nurses, psychologist, occupational therapist, social worker and even teachers (for
educational support).
The GP must be involved in the care of the individual as physical health problems are common. Treatment of co-morbid
medical conditions and psychiatric problems is vital.
Antipsychotics can be used for challenging behaviour but are overused.
Behavioural techniques such as applied behavioural analysis, and positive behaviour support, as well as CBT can be used.
Psychiatrists, mental health nurses and psychologists can support carers with these strategies.
Family education is essential and support should be offered through educational programmes and voluntary organizations.
Prevention can be attempted through genetic counselling and antenatal diagnosis.

Question 35

What is the definition of autism?

Answer 35

Autism is a pervasive developmental disorder characterized by a triad of impairment in social interaction, impairment in
communication, and restricted, stereotyped interests and behaviours.

Question 36

Prenatal pathophysiology of autism

Answer 36

Genetics: There is a complex polygenic relationship, with a number of chromosomes implicated, such as chromosome 7.
There is a significantly increased risk of autism associated with genetic syndromes such as fragile X syndrome and tuberous
sclerosis.
Parental age: A study found that women who are 40 years old have a 50% greater chance of having a child with autism as
compared with women aged 20–29 years.
Drugs: Babies who have been exposed to certain medications in the womb have a greater risk of developing autism. These
include sodium valproate in particular.
Infection: Prenatal viral infections (e.g. rubella) increase the risk of autism.

Question 37

Antenatal pathophysiology of autism

Answer 37

Obstetric complications such as hypoxia during childbirth, ↓ gestational age at birth, as well as very low birthweight offer
increased risk of autism.

Question 38

Postnatal pathophysiology of autism

Answer 38

Toxins such as lead and mercury may increase the risk of autism.
Pesticide exposure may affect those genetically predisposed to autism

Question 39

Epidemiology of autism

Answer 39

Male Males are 4 × more likely to be affected than females.
Genetics/Family history There is an 88% concordance rate in monozygotic twins, indicating a strong genetic
component.
Advancing parental age Recent studies have suggested that advancing parental age is a significant risk factor for ASD.
Parental psychiatric
disorders
Evidence suggests a link between parental psychiatric disorders such as schizophrenia and
the child having autism.
Prematurity Born before 35 weeks’ gestation.
Maternal medication
use
↑ with mothers receiving sodium valproate during pregnancy.

Question 40

Clinical features of autism

Answer 40

Asocial Few social gestures, e.g. waving, nodding and pointing at objects.
Lack of: Eye contact (gaze avoidance), social smile, response to name, interest in others,
emotional expression, sustained relationships and awareness of social rules.
Behaviour
restricted
Restricted, repetitive and stereotyped behaviour, e.g. rocking and twisting.
Upset at any change in daily routine.
May prefer the same foods, insist on the same clothes and play the same games.
Obsessively pursued interests.
Fascination with sensory aspects of environment.
Communication
impaired
Distorted and delayed speech (often the first sign which is noticed).
Echolalia (repetition of words).

Question 41

Onset of autism

Answer 41

50% of parents have cause for concern by 12–18 months of age. The onset of autism is before the age of 3 years. There is
also a diagnosis of atypical autism after the age of 3

Question 42

Other conditions associated with autism

Answer 42

Epileptic seizures: ~20% develop this.
Visual impairment.
Hearing impairment.
Infections.
Pica: Eating inedible objects.
Constipation.
Sleep disorders.
Underlying medical conditions: PKU, fragile X, tuberous sclerosis, congenital rubella, CMV or toxoplasmosis.
Psychiatric: Hyperkinetic disorder, depression, bipolar affective disorder, anxiety, psychosis, OCD, DSH.

Question 43

History questions for autism

Answer 43

Does your child ever engage in pretend play alone or with others?’, ‘Does your child struggle to interact with
others and make friends?’ (social interaction poor)
‘Have you noticed any patterns in their behaviour?’, ‘Does your child insist on the same toys, activities or foods?’,
‘Have you noticed them making any abnormal movements such as flapping their hands or walking on tiptoes?’
(repetitive, stereotypical behaviour)
‘Do they struggle to communicate with you?’, ‘Have you noticed that their speech is monotonous or repetitive?’
(impaired communication)
‘What sort of games does your child play and with what toys?’ (unimaginative play)
‘Do you have any concerns about your child’s development?’ (developmental history)

Question 44

ICD-10 criteria for diagnosis of autism

Answer 44

A. Presence of abnormal or impaired development before the age of three.
B. Qualitative abnormalities in social interaction.
C. Qualitative abnormalities in communication.
D. Restrictive, repetitive and stereotyped patterns of behaviour, interests and activities.
E. The clinical picture is not attributable to other varieties of pervasive developmental disorder

Question 45

MSE for autism

Answer 45

Appearance &
Behaviour
Ritualized, stereotyped behaviour, e.g. clapping, rocking. Poor eye contact, detached. Lack of facial
expression and gestures. May attach to unusual items.
Speech Delayed speech. Difficulty initiating and maintaining conversation. Repetitive language. May have
unusual rate, rhythm and volume.
Mood Normal or have erratic mood changes (can appear to have a labile mood).
Thought Obsessions and compulsions. Intense preoccupation with special interests.
Perception May be very sensitive to noise, touch or smell.
Cognition Impaired attention but may also be able to concentrate on special interests.
Insight May be poor but they may be distressed if aware they are different/don’t fit in.

Question 46

Investigations for autism

Answer 46

Full developmental assessment including family history, pregnancy, birth, medical history, developmental
milestones, daily living skills and assessment of communication, social interaction and stereotyped behaviours
(see OSCE tips).
Hearing tests if required.
Screening tools including CHAT (CHecklist for Autism in Toddlers).

Question 47

DDs for autism

Answer 47

Asperger’s syndrome*
Rett’s syndrome*
Childhood disintegrative disorder*
Learning disability
Deafness
Childhood schizophrenia

Question 48

Features of Asperger’s syndrome

Answer 48

Asperger’s syndrome: Similar to autism with abnormalities in social interaction and restricted, stereotyped, repetitive
interests and behaviours. However, unlike autism, there is no impairment in language, cognition or intelligence (IQ
normal). It is more prevalent in boys.

Question 49

Features of Rett’s syndrome

Answer 49

Severe, progressive disorder starting in early life. Results in language impairment, repetitive stereotyped
hand movements, loss of fine motor skills, irregular breathing and seizures. Almost exclusively seen in girls. The MECP2
gene’s role in Rett’s syndrome has been identified.

Question 50

Features of Childhood disintegrative disorder (Heller’s syndrome)

Answer 50

Characterized by two years of normal development followed by loss
of previously learned skills (language, social and motor). Also associated with repetitive, stereotyped interests and
behaviours as well as cognitive deterioration.

Question 51

Developmental assessment of autism

Answer 51

A full developmental assessment is essential in any child with suspected autism, paying particular attention to communication
and social interaction.
SPEECH and HEARING developmental milestones:
3 months → turns towards sound, quietens to parent’s voice.
6 months → double syllables e.g. ‘adah’.
9 months → says ‘mama’ and ‘dada’.
12 months → knows and responds to own name.
12–15 months → knows about 2–6 words, understands simple commands.
2 years → combines two words.
3 years → talks in short sentences
(e.g. 3–5 words), asks ‘what?’ and ‘who?’ questions.
4 years → asks ‘when?’, ‘how?’ and ‘why?’ questions.
SOCIAL BEHAVIOUR developmental milestones:
6 weeks → smiles (refer at 10 weeks if not smiling).
6 months → enjoys interaction.
1 year → waves bye-bye.
2 years → interested in other children.
3 years → make believe play.
4 years → plays with other children

Question 52

General points for the management of autism

Answer 52

Diagnosis should be by a specialist and can be reliably made at age 3.
Local autism teams (community-based multidisciplinary teams including paediatricians, psychiatrists, educational
psychologists, speech and language therapists and occupational therapists) should ensure that all those diagnosed with
autism have a key worker to manage and coordinate treatment.
CBT can be used if the child has the verbal and cognitive ability to engage and is motivated.
Interventions for life skills include support developing their daily living skills, their coping strategies and enabling access to
education and community facilities such as those related to leisure and sports.
Ensure all physical health, mental health and behavioural issues are addressed (Key facts 1).
Families and carers should also be offered personal, social and emotional support. Self-help groups such as the National
Autistic Society (NAS) are available.
Special schooling may be considered.
Melatonin may be considered for sleep disorders that persist despite behavioural interventions.

Question 53

Biological management of autism

Answer 53

Treat co-existing disorders (eg methylphenidate for hyperkinetic disorder)
Antipsychotics for behaviour that challenges
Melatonin

Question 54

Social management of autism

Answer 54

Modification of environmental factors
Social-communication intervention
Self-help groups such as National Autistic Society
Special Schooling

Question 54

Psychological management of Autism

Answer 54

Psychoeducation for families or carers
Full assessment of the functions of behaviour to understand the child fully
CBT

Question 54

Interventions for the core features of autism

Answer 54

Social-communication intervention (e.g. play-based strategies).
Do not use pharmacological agents such as antipsychotics, antidepressants or exclusion diets.

Question 55

Interventions for behaviour that challenges

Answer 55

Treat co-existing physical disorders (e.g. epilepsy and constipation) and mental health (e.g. anxiety, depression) and
behavioural problems (e.g. hyperkinetic disorder).
Modification of environmental factors which initiate or maintain challenging behaviour, are the first line in management (e.g.
lighting, noise, social circumstances and inadvertent reinforcement of challenging behaviour).
Antipsychotics (e.g. risperidone) should be considered for behaviour that challenges, when psychosocial interventions are
insufficient or if the features are severe. This requires careful consideration as there are significant side effects, and
metabolic monitoring is required.