Autism, ADHD and Learning Disabilities

Question 1

What is the definition of Autism?

Answer 1

Pervasive developmental disorder characterised by triad of impairment in social interaction, impairment in communication and restricted, stereotyped interests and behaviours

• Age of onset is before age of 3. Temper tantrums, impulsivity cognitive impairment may be present as associated conditions

Question 2

What is the aetiology of Autism?

Answer 2

• Prenatal: genetics (fragile X syndrome, tuberous sclerosis), parental age (older patients increase risk), drugs (e.g., sodium valproate), infection (e.g., rubella)
• Antenatal: obstetric complications such as hypoxia during childbirth, reduced gestational age at birth, very low birthweight offer increased risk of autism
• Postnatal: toxins such as lead and mercury. Pesticide exposure as well

Question 3

What are clinical features of Autism?

Answer 3

Asocial

• Few social gestures e.g. waving, nodding and pointing at object
• Lack of: eye contact, social smile, response to name, interest in other, emotional expression, sustained relationships and awareness of social rules

Behaviours Restricted

• Restricted, repetitive and stereotyped behaviour e.g. rocking and twisting
• Upset at any change in daily routine
• May prefer same food, insist on same clothes and play same games
• Obsessively pursued interests
• Fascination with sensory aspects of environment

Communication impaired

• Distorted and delayed speech.
• Echolalia (repetition of words)

Other features: temper tantrums, impulsivity, cognitive impairment

Question 4

What is the ICD-10 for Autism?

Answer 4

• Presence of abnormal or impaired development before age of 3
• Qualitative abnormalities in social interaction
• Qualitative abnormalities in communication
• Restrictive, repetitive and stereotyped patterns of behaviour, interest and activities
• Clinical picture not attributable to other varieties of pervasive developmental disorder

Question 5

What is the investigations for Autism?

Answer 5

• Full developmental Assessment: family history, pregnancy, birth, medical history, developmental milestones, daily living skills and assessment of communication, social interaction and stereotyped behaviours
• Hearing tests if required
• Screening tools including CHAT

Question 6

What is the general management for Autism?

Answer 6

• Diagnosis should be made by specialist and can be reliably done at age 3. Local autism team should ensure all diagnosed with autism have key worker to manage and coordinate treatment
• CBT can be used. Interventions for life skills include support developing 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
• Emotional, personal and social support for families and carers. Special schooling considered. Melatonin may be used for sleep disorders

Question 7

What are the interventions for core features of autism?

Answer 7

• Social communication intervention (e.g., play based strategies)
• Do not use antipsychotics, antidepressants or exclusion diets

Question 8

What are interventions for behaviour that challenges in autism?

Answer 8

• Treat co-existing physical disorders, mental health and behavioural problems.
• Modification of environmental factors which initiate or maintain challenging behaviours are first line in management
• Antipsychotics considered for behaviour that challenges when psychosocial intervention are insufficient or if features are severe

Question 9

What is the definition of ADHD?

Answer 9

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

Question 10

What are common co-morbidities for ADHD?

Answer 10

• Learning difficulties
• Dyspraxia
• Tourette’s syndrome
• Mood/anxiety disorder
• Conduct disorder
• Oppositional defiant disorder

Question 11

What are the core features of ADHD?

Answer 11

Core features are

• Inattention
• Hyperactivity
• Impulsivity

Question 12

What is the aetiology of ADHD?

Answer 12

• Genetic
• Neurochemical: possible abnormality in dopaminergic pathway
• Neurodevelopmental: pre-frontal cortex abnormalities
• Social: social deprivation and family conflict as well as parental cannabis and alcohol exposure.

Question 13

What is the ICD-10 for ADHD?

Answer 13

• Demonstrate abnormality of attention, activity and impulsivity at home for the age and developmental level of the child
• Demonstrate abnormality of attention and activity at school or nursery for age and developmental level of the child
• Directly observed abnormality of attention or activity. This must be excessive for child’s age and developmental level
• Does not meet criteria for pervasive developmental disorder, mania, depressive or anxiety disorder
• Onset before age of 7 year
• Duration for at least 6 months
• IQ above 50

Question 14

What are investigations carried out for ADHD?

Answer 14

• Blood Tests: TFTs
• Hearing Test: examine middle/inner ear with otoscope and consider audiogram
• Rating scales: e.g. Conners’ ratings scale and strengths and difficulties questionnaire

Question 15

How is ADHD diagnosed?

Answer 15

• Diagnosed by specialist and treatment depends on age. Support for parents and teachers.
• If clear link between food and behaviour, then food diary required. Can then control behaviour

Question 16

What is the management for ADHD according to age?

Answer 16

Pre-school

• Parent training and education programmes are first line. Parent training Is behavioural with parents being helped to reinforce positive behaviour and find alternative ways to manage disruptive behaviour

School goers

• Psychoeducation and CBT provided.
• If severe hyperkinetic disorder, drug treatment is first line. CNS stimulant Methylphenidate (Ritalin) is usual choice. Atomoxetine (and if this fails, dexamfetamine) is alternative if methylphenidate is ineffective.

Question 17

What are side effects of CNS stimulants?

Answer 17

Side effects of CNS stimulants

• Headache
• Insomnia
• Loss of appetite
• Weight loss

Question 18

What is the definition of Learning Disabilities?

Answer 18

• A state of arrested or incomplete development of the mind. Characterised by impairment of skills manifested during the developmental period and skills that contribute to overall intelligence
• Triad must exist to constitute a learning disability
  
  • Low intellectual performance (IQ below 70)
  • Onset at birth or during early childhood
  • Wide arrange of functional impairment including social handicap due to reduced ability to acquire adaptive skills

Question 19

What is the aetiology of Learning Disabilities?

Answer 19

• Genetic: Down’s syndrome, Fragile X syndrome, Cri du chat, Prader-Willi, neurofibromatosis, tuberous sclerosis, Angelman syndrome, homocystinuria, galactosaemia, phenylketonuria, Tay– Sachs disease, hydrocephaly.
• Antenatal: Congenital infection (rubella, CMV, toxoplasmosis), Nutritional deficiency, Intoxication (alcohol, cocaine, lead), Endocrine disorders (hypothyroidism, hypoparathyroidism), Physical damage (injury, radiation, hypoxia), Antepartum haemorrhage, Pre-eclampsia.
• Perinatal: Birth asphyxia, Intraventricular haemorrhage, Neonatal sepsis
• Neonatal: Hypoglycaemia, Meningitis, Neonatal infections, Kernicterus
• Postnatal: Infections, Anoxia, Metabolic, Cerebral palsy
• Environmental: Neglect/non-accidental injury, Malnutrition, Socioeconomic deprivation
• Psychiatric: Autism, Rett’s syndrome

Question 20

What are clinical features of Learning Disabilities?

Answer 20

• 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 21

What is the investigations of Learning Disabilities?

Answer 21

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).
• Brain imaging: CT head and/or MRI.
• IQ (intelligence quotient) test

Question 22

What is the management of Learning Disabilities?

Answer 22

• MDT approach vital with psychiatrist, speech and language therapist, specialist nurses, psychologist, occupational therapist, social worker and teachers
• GP involved in care as physical health problems are common
• Antipsychotics used for challenging behaviours
• Behavioural techniques: applied behavioural analysis and positive behaviour support as well as CBT.
• Family education essential and support offered through education programmes and voluntary organization
• Prevention attempted through genetic counselling and antennal diagnosis

Question 23

What is Asperger’s Syndrome?

Answer 23

• Similar to autism with abnormalities in social interaction and restricted, stereotyped, repetitive interest and behaviours.
• Unlike autism, there is no impairment in language, cognition or intelligence (IQ normal). More prevalent in boys.

Question 24

What is Rett’s Syndrome?

Answer 24

• 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
• MECP2 gene’s role in Rett’s syndrome has been identified

Question 25

What is Childhood disintegrative disorder (Heller’s Syndrome)?

Answer 25

Characterised by two years of normal development followed by loss of previously learned skills. Also associated with repetitive, stereotyped interests and behaviours as well as cognitive deterioration