Developmental Disorders

Question 1

What is ADHD?

Answer 1

Triad of impaired attention, impulsivity and hyperactivity causing significant functional impairment in at least 2 domains (e.g. home and school) for a period of >6 months (persistent)

Question 2

Presenting features of ADHD

Answer 2

-Impaired attention = poor or limited concentration on tasks, highly distractible, difficulty listening and loses things often
-Impulsivity = inability to suppress impulses, instead acting on all and not thinking about consequences; difficulty waiting their turn
-Hyperactivity = restlessness, excessive fidgeting/ talkativeness/ noisiness
-Sensory processing abnormalities are also common

Question 3

Presentation of ADHD in childhood

Answer 3

-Inattention
=Poor self-organisation (loses school jumper)
=Needs instructions repeated
=Careless mistakes in schoolwork
=Reluctant to engage in mentally-intense tasks
=Easily distracted, difficult to sustain tasks

-Impulsivity
=Shouts out answers to questions
=Difficulty waiting turn
=Easily led
=Risk taker

-Hyperactivity
=Moves around inappropriately
=Excessively talkative, goes off on tangents

Question 4

Presentation of ADHD in adulthood

Answer 4

-Inattention
=Frequently loses important items (keys, wallet, phone)
=Struggles to complete administrative tasks

-Impulsivity
=Makes reckless decisions
=Completes other’s sentences
=Avoids queuing

-Hyperactivity
=Movement less of a problem in adulthood
=May avoid situations where sitting still is expected (cinema, theatre)
=Over-talkative with tangential conversation

Question 5

Epidemiology of ADHD

Answer 5

-Attention deficit hyperactivity disorder has a prevalence of 5% in children and 2.5% in adults
-It is twice as common in males as in females (4:1?)
-Possible genetic component

Question 6

Aetiology of ADHD

Answer 6

-ADHD has one of the highest heritabilities of all psychiatric illnesses at~80%
-A first-degree relative of someone with ADHD has a 20% chance of also being affected
-Many different gene variants have been implicated in ADHD

-Some environmental factors also modestly increase risk of ADHD:
=Maternal smoking, alcohol or heroin use during pregnancy
=Very low birthweight, foetal hypoxia, perinatal brain injury
=Prolonged emotional deprivation in infancy

Question 7

Differential diagnosis of attention problems: children

Answer 7

-Normal for age
-Secondary to sensory impairment (e.g. deafness, myopia)
-Secondary to psychosocial adversity (e.g. hunger)
-Secondary to mental or physical health problem (e.g. restlessness due to pain or thyrotoxicosis)
-Neurodevelopmental disorder
=Intellectual disability
=Attention deficiency hyperactivity disorder
=Tourette syndrome or dyskinesia
=Specific learning difficulty
-Conduct disorder
-Reactive attachment disorder

Question 8

Differential diagnosis of attention problems: adults

Answer 8

-Within normal range
-Secondary to substance abuse
-Neurodevelopmental disorder
=Intellectual disability
=ADHD
-Personality disorder (EUPD, dissocial)
-Secondary to other psychiatric disorder (BPAD, GAD, depression)
-Brain injury
-Neurodegeneration

Question 9

Assessment of ADHD

Answer 9

-History
=Do you lose things often?
=Have you been told you don’t listen?
=Are you easily distracted from a task?
=Are you fidgety?*
=What’s it like inside your head? (chaotic, busy)
-Collateral histories are very important (parents, carers, teachers)

-Examination
=Observation in a clinical setting and in a school setting in children
=MSE: look for pressured, tangential speech, fidgeting, distractibility
=Examine for any sensory deficits/potential physical causes

-Investigations
=Nothing specific required for diagnosis
=Consider bloods as indicated e.g.TFTs

Question 10

Management of ADHD

Answer 10

10 week watch and wait period following presentation

-Psychosocial interventions:
=Recommended in all cases and are first-line for children and young people with mild to moderate ADHD
=May include parental education, CBT and social skills training
=There is less evidence for their benefit in adult ADHD

-Pharmacological treatment = methylphenidate first-line (dopamine/ norepinephrine reuptake inhibitor)
=For school-age children with severe ADHD and adults with moderate to severe symptoms
=Second-line for moderate ADHD in children where psychosocial intervention has failed to alleviate symptoms
=Children must have their height and weight monitored for signs of growth suppression and everyone their HR and BP assessed whilst on ADHD drug treatment
=Atomoxetine and dexamfetamine can be used where methylphenidate is ineffective or poorly tolerated, lisdexamfetamine

Question 11

Prognosis of ADHD

Answer 11

-ADHD tends to improve in adolescence, particularly the hyperactivity
-However ~2/3 will have symptoms that persist into adulthood
=Most will not need ongoing management from adult mental health
-Worse prognosis is associated with unstable family dynamics and coexisting conduct disorder
-Individuals with ADHD are at increased risk of substance abuse and incarceration in adulthood
-Many will live successful and enjoyable lives with the correct management

Question 12

What is Childhood Autism?

Answer 12

Triad of impaired social interaction, impaired communication and restricted/stereotyped interests and behaviours presenting before age 3 years (ICD-10)

Question 13

What is Asperger syndrome?

Answer 13

Subtype of autism with no significant abnormalities in language acquisition/ability or in cognitive development/intelligence (ICD-10)

Question 14

Changes in ICD-11 and DSM-5 in ASD

Answer 14

-Autism spectrum disorder rather than autism or Asperger’s
=“Spectrum includes a full range of intellectual functioning and language abilities”

-Less emphasis on presentation by age 3
=“onset occurs during early childhood but symptoms may not become fully manifest until later, when social demands exceed limited capacities”

-Merging of domains of impaired social interaction and communication
-(Intellectual disability, ADHD and childhood autism had all been listed in separate categories of disorder, now all together in new neurodevelopmental category)

Question 15

What is ASD?

Answer 15

Triad of 1. impaired social interaction,
2. impaired communication and
3. restricted/ stereotyped interests and behaviours

Question 16

Presenting features of ASD

Answer 16

-Impaired social interaction: poor use of non-verbal communication, failure to develop peer relationships
2. Impaired communication: poor development of spoken language, extreme difficulty starting/maintaining conversation, lack of make-believe play
3. Restricted/ stereotyped interests and behaviours: intense preoccupations with specific interests and repetitive, stereotyped movements

-Not core:
=Behavioural problems e.g. aggression, self-injury, poor impulse control
=Sensory difficulties e.g. hypersensitivity to sound or touch
=50% have significant intellectual disability
=25-30% have epilepsy

Question 17

First presentation of ASD in childhood

Answer 17

-Impaired social interaction
=Not interested in peers, little eye contact

-Impaired communication
=Delayed speech

-Restricted, stereotyped interests and behaviours
=Intense interest in physical aspects of objects or numbers (lining up milk bottle tops)
=Inflexible adherence to routine
=Repetitive movements (clapping, rocking)

Question 18

First presentation of ASD in adulthood

Answer 18

-Impaired social interaction
=Not able to make small talk, doesn’t pick up on social queues

-Impaired communication
=Pedantic, overly formal use of language

-Restricted, stereotyped interests and behaviours
=Intense interest in objects or numbers, often enjoyment gained from categorizing or collecting (listing train timetables)
=Inflexible adherence to routine
=Repetitive movements less common

Question 19

Epidemiology in ASD

Answer 19

-Prevalence of autism spectrum disorder is 1%
-Males are affected 3 times more than females
-Epilepsy is comorbid in 25-30% cases

Question 20

Aetiology of ASD

Answer 20

-ASD are a heterogenous collection of disorders which all influence social communication; aetiology is heterogenous too

-Genetics
=ASD is highly heritable (~80% heritability) (although sporadic variants also contribute)
=Siblings of an autistic child have 10-15% risk of being affected
=Risk increased by some syndromic ID e.g. Fragile X, tuberous sclerosis (account for 5-15% cases)
=Genes implicated are expressed early in brain development and involved in synapse development

-Environmental factors
=Any environmental factor that can influence brain development can potentially play a role
=There is no evidence to support the false claim that the MMR vaccine causes ASD

-Subtle structural brain imaging differences

Question 21

Differential diagnosis for social and communication difficulties: children

Answer 21

-Normal for age
-Secondary to sensory impairment e.g. deafness
-Secondary to psychosocial adversity
-Secondary to physical health problem e.g. absence seizures, cleft palate
-Secondary to other psychiatric disorder
=Anxiety disorders e.g. social anxiety, OCD
=Social behaviour disorder e.g. Elective mutism, Reactive attachment disorder, Conduct disorder
-Neurodevelopmental disorder
=Autism spectrum disorder
=Intellectual disability
=Attention deficit hyperactivity disorder
=Specific language impairment
=Genetic syndrome e.g. Rett, Childhood disintegrative disorder, Fragile X, Tuberous sclerosis

Question 22

Differential diagnosis for social and communication difficulties: adults

Answer 22

-Within normal range
-Neurodevelopmental disorder
=Autism spectrum disorder
=Intellectual disability
=Personality disorder (schizoid, schizotypal, anankastic, EUPD, dissocial)
-Secondary to other psychiatric disorder (social phobia, GAD, depression)
-Brain injury
-Neurodegeneration

Question 23

Assessment of ASD

Answer 23

-History
=Screening tools e.g. AQ-10 (adults), SRS (children)
=Ask questions (depending on age) such as:
==What is a friend? What are your hobbies? Can you make small talk?
==How would you know if someone was sad? What would you do?
=For adults, the RCPsych interview guide for Able Adults with ASD very helpful
=Collateral histories (including development) are very important (parents, carers, teachers)
=Establish to what degree the difficulties affect the patient’s life/functionality

-Examination
=Examine sensory function
=MSE: observe body language, ability to notice social cues and speech (accent, formality, use and understanding of idiom and metaphors/simile)
=Structured assessments e.g. ADOS

-Investigations
=Nothing required for diagnosis

Question 24

Management of ASD

Answer 24

-No pharmacological treatments are recommended for core ASD symptoms
=May be used for any comorbid physical or mental disorders
=May be used to manage severe aggression only if started by specialist services

-The mainstay of treatment is focused on psychosocial interventions
=Play-based social communication programmes are recommended in children
=Social learning programmes recommended for adults
=Self-help or support groups for adults and older children
=Family support groups and respite for carers

-For adults some other interventions may be appropriate:
=Supported employment programme
=Structured supervised leisure activity
=Anger management
=Crisis planning

Question 25

Prognosis of ASD

Answer 25

-ASDs are lifelong conditions with no cure
-Functional impact fluctuates with stressors, change and physical illness
-Prognosis is very dependent on severity of symptoms
=Good prognostic factors are IQ >70, communicative language by age 5 years and absence of epilepsy
=Those with comorbid intellectual disability are unlikely to be able to live independently in adulthood
-Some individuals with ASD learn strategies to overcome their limitations and play to their strengths allowing them to take up employment and live with minimal if any support

Question 26

What is a neurodevelopmental disorder?

Answer 26

group of disorders where abnormal development of the central nervous system leads to impairment in brain function (e.g. movement, cognition)

Question 27

What is an intellectual disability?

Answer 27

global intellectual impairment (IQ < 70) associated with adaptive functioning difficulties, manifesting during development

Question 28

What is a learning difficulty?

Answer 28

any condition that impairs learning, most often not associated with a global reduction in IQ; a specific learning difficulty is one that impairs only a particular type of learning (e.g. dyslexia, dyscalculia)

Question 29

Presenting features of intellectual disability

Answer 29

-Developmental delay
-Difficulties with learning, memory and attention
-Abnormal communication and socialising
-Behavioural problems e.g. aggression, self-injury, poor impulse control

Question 30

Adaptive functioning of mild intellectual disability

Answer 30

-85% cases, 50-69 IQ range

-Difficulties may be subtle and difficult to identify
-Often only identified at later age
-Difficulties in academic work (reading and writing) but greatly helped by educational programmes
-Usually capable of unskilled or semi-skilled manual labour
-May be able to live independently or with minimal support

Question 31

Adaptive functioning of moderate intellectual disability

Answer 31

-10% cases, 35-49 IQ

-Language and comprehension limited
-Self-care and motor skills impaired, may need supervision
-May be able to do simple practical work with supervision
-Rarely able to live completely independently

Question 32

Adaptive functioning of severe intellectual disability

Answer 32

-3-4% cases, 20-34 IQ

-Marked degree of motor impairment
-Little or no speech during early childhood, may learn to talk in school-age period
-Capable of only elementary self-care skills
-May be able to perform simple tasks under close supervision

Question 33

Adaptive functioning of profound intellectual impairment

Answer 33

-1-2% cases, <20IQ

-Severely limited in ability to communicate their needs
-Often severe motor impairment with restricted mobility and incontinence
-Little or no self-care
-Often require residential care

Question 34

Epidemiology of intellectual disability

Answer 34

-Prevalence of intellectual disability is 1%
-1.5 times more common in males than females
-Normally presents in childhood
-Up to 1/3 of patients have a comorbid psychiatric illness
=ASD and ADHD common
=Schizophrenia present in ~4% of those with intellectual disability
-Epilepsy is another common comorbidity

Question 35

Aetiology of intellectual disability

Answer 35

-Some common causes of intellectual disability are:
=Genetic (trisomies, structural variants, point mutations)
=Prenatal (TORCH infections, substance use, other complications)
=Perinatal (birth trauma, prematurity)
=Environmental (neglect, malnutrition)
=Childhood illness (infection, head injury, toxins)

-However, in a third of mild cases of intellectual disability no aetiology is ever determined
-Severe intellectual disability is more likely to have a specific cause identified

Question 36

Differential diagnosis of first presentation of developmental delay, social or communication problems or attention problems

Answer 36

-Neurodevelopmental disorder
=Intellectual disability
=Autism spectrum disorder
=Attention deficiency hyperactivity disorder
=Tourette syndrome
-Specific learning difficulty
-Sensory impairment (e.g. hearing)
-Mental health disorder (e.g. reactive attachment disorder)
-Psychosocial adversity (e.g. abuse)

Question 37

Differential diagnosis for behaviour change in someone with intellectual disability diagnosis

Answer 37

-Physical problem (e.g. constipation)
-Sensory impairment (e.g. vision)
-Mental health problem (e.g. depression)
-Environmental change (e.g. change of carer, change of location)
-Psychosocial adversity (e.g. abuse ,divorce)
-Medication change (stop/start/OTC)
-Substance use

Question 38

Assessment of first presentation (intellectual disability)

Answer 38

-History
=Thorough developmental, psychiatric and medical history
==Global or specific intellectual difficulty?
==Associated problems with adaptive or social functioning?
-Collateral histories are very important (parents, carers, teachers)

-Examination
=Assess IQ score using a suitable method (done by psychology)
=Assess for syndromic causes of intellectual disability e.g. single palmar crease
=Exclude physical causes and sensory impairments
=Perform MSE (look for difficulty understanding questions, short answers, dysarthria speech; also any evidence of comorbid psychiatric disorders)

-Investigations
=Nothing specific required for diagnosis however can be useful for excluding differentials and identifying comorbidities such as epilepsy

Question 39

Assessment of behaviour change (intellectual)

Answer 39

-History
=Psychiatric
=Physical health
=Social circumstances
=Any medication changes
=Substance use
=Collateral histories are very important (parents, carers, teachers)

-Examination
=Screen for sensory impairments
=Full physical exam
=MSE (focussing on any evidence of comorbid psychiatric disorders)

-Investigations
=Consider bloods as guided by findings above e.g. FBC, U&E, TFT, glucose, CRP

Question 40

Management principles in intellectual disability

Answer 40

-Bio
=Prevention and early detection – amniocentesis, rhesus status, genetic testing
=Treatment of specific cause of ID, where possible
=Treatment of psychiatric comorbidities by intellectual disability psychiatrist
=Treatment of physical comorbidities by specialist

-Psycho
=Early support for patients and their families – ongoing for as long as needed
=Psychological therapies (e.g. CBT) as appropriate for psychiatric conditions

-Social
=The person should attend mainstream education if possible, but not for everyone
=Vocational and housing support should also be offered later in life

Question 41

Prognosis of intellectual disability

Answer 41

-Intellectual disability is a lifelong condition with no cure – prognosis varies with severity
-Appropriate multidisciplinary care can improve symptoms/functional ability
-Functional impact fluctuates with stressors
-Some with intellectual disability will live independently with minimal support and adaptations
-Those with comorbid ASD and intellectual disability are less likely to be able to live independently