Neurodevelopmental disorders Flashcards
What is autism?
Persistent and pervasive deficits in initiating and sustaining social communication and reciprocal social interactions
What is autism accompanied by?
restricted, repetitive, and inflexible patterns of behaviour, interests, or activities
Typical onset of autism?
occurs during the developmental period, typically in early childhood, but characteristic symptoms may not become fully manifest until later, when social demands exceed limited capacities.
Symptoms of autism result in impairment to what areas of the patients functioning?
personal, family, social, educational, occupational or other important areas of functioning.
Some individuals with Autism Spectrum Disorder are able to function adequately in many contexts through exceptional effort meaning that deficits may not be apparent to others. True/false?
True
All people with autism have an intellectual disability. true/false?
false
Percentage of autism patients with ID varies depending on source. Some say 60-70% whilst others say 30%.
What is the prevalence of autism in the UK?
At least 1% of the UK population is autistic - around 700,000
What is the risk of autism being inherited?
74-93%
Once a child is diagnosed with autism. There is a 7-20% chance that the subsequent child will have autism too. true/false?
True
Is autism polygenic?
Yes
Highly polygenic
What do genes associated with ASD tend to control?
protein synthesis in neuronal cells in response to cell needs
activity and adhesion of neuronal cells
synapse formation and remodeling
excitatory to inhibitory neurotransmitter balance
Autistic people’s brains tend to have underexpressed GABA and overexpressed genes for astrocytes and microglia (increased on post-mortem studies). true/false?
True
What are some disorders typically associated with autism?
Tuberous Sclerosis (40-50% will have ASD)
Neurofibromatosis Type 1 (40%)
Fragile X (33%)
Down Syndrome (18%)
What are some risks of the child having ASD during period of pregnancy?
Maternal gestational diabetes
Parental age over 30
Bleeding in pregnancy after 1st trim
VALPROATE IN PREGNANCY (AVOID)
Meconium in the amniotic fluid
Vitamin D deficiency during development
Maternal rubella/CMV infection
<35 weeks gestational age
What specific areas of the brain are affected in ASD?
Fusiform Face Area on the inferior temporal cortex – involved in facial recognition (and other objects too). Facial (and object) recognition is slower to acquire in autistic children.
Limbic system – smaller, more densely packed neurones. This area is involved in emotional and memory processing.
Where does the limbic system lie?
Border separating the diencephalon and the cerebral cortex
Main use of limbic system?
Emotion
What is the amygdala?
Almond-shaped collection of nuclei found in the temporal lobe. Involved in fearful and anxious emotions
Role of the hippocampus?
Located posterior to the amygdala.
Despite being part of the limbic system it is mainly associated with memory
Role of hypothalamus?
Regulates hormone release via the interior pituitary and has ability to help maintain homeostasis.
What is the fusiform face area?
A region of the cortex in the inferior temporal lobe of the brain that has been shown to respond most strongly to faces compared with other types of input (e.g., objects) for typically developing individuals.
What imitation features may be absent in a child with autism?
Pointing at objects
Playing ‘peek-a-boo’
Seeking and enjoying cuddling
Checking for parents
Interest in other children
Waving bye-bye without prompting
What eye contact features may be absent in a child with autism?
Orienting to name
Joint attention
Responding to name
Following someone’s point
Social smiling
Demanding attention
Prognosis and treatment of ASD?
ASD is a lifelong condition. If we have made the correct diagnosis then there is no “cure”, but people can and do learn new skills and strategies
For the core symptoms of autism there is no pharmacological treatment, and guidelines specifically counsel against the use of medication.
Examples of psychosocial interventions for children and young people?
A specific social-communication intervention for the core features of autism that includes play-based strategies with parents, carers and teachers to increase joint attention, engagement and reciprocal communication in the child or young person.
Aim to increase the parents’, carers’, teachers’ or peers’ understanding of, and sensitivity and responsiveness to, the child or young person’s patterns of communication and interaction
A psychosocial approach in ASD should be prioritised over medication use. true/false?
True
Consider potential underlying causes, acute triggers, reinforcers, what needs are being met by the behaviour,patterns and engage both proactive and reactive strategies – consistently applied – to target the behaviour.
What is the ICD-11 diagnostic criteria for ADHD (attention-deficit hyperactivity disorder)?
A persistent pattern (at least 6 months) of:
Inattention symptoms and/or
a combination of hyperactivity and impulsivity symptoms
outside the limits of normal variation expected for age and level of intellectual development.
Symptoms vary depending on chronological age and disorder severity
The main symptoms of inattention in ADHD can be grouped into 3 clusters. What are these clusters?
Cluster 1 (focus)
Cluster 2 (distractibility)
Cluster 3 (forgetfulness/dysexecutive)
Cluster 1 (focus) ADHD inattention symptoms?
- Difficulty sustaining attention to tasks that don’t require high level of stimulation/reward or mental effort.
- Lacking attention to detail
- Making careless mistakes in school or work assignments
- Not completing tasks
Cluster 2 (distractibility) ADHD inattention symptoms?
- Easily distracted by thought not related to task at hand.
- Often does not seem to listen when spoken to directly.
- Frequently appears to be daydreaming or to have mind elsewhere.
4 main hyperactivity-impulsivity symptoms?
Physical/Hyperkinetic
Loud
Social
A tendency to act in response to immediate stimuli without deliberation or consideration of risks and consequences e.g.
Engaging in behaviours with potential for physical injury;
impulsive decisions;
reckless driving.
Cluster 3 (forgetfulness/dysexecutive) ADHD inattention symptoms?
- Loses things
- Forgetful in daily activities
- Has difficulty remembering to complete upcoming daily tasks or activities.
- Difficulty planning, managing and organising schoolwork, tasks and other activities
Physical/hyperkinetic symptoms for hyperactivity-impulsivity?
Excessive motor activity
Leaves seat when expected to sit
Often runs about
Loud symptoms for hyperactivity-impulsivity?
Difficulty engaging in activities quietly
Talks too much
Social symptoms for hyperactivity-impulsivity?
Blurts out answers in schools, comments at work.
Difficulty awaiting turn in conversation, games and activities.
Interrupts or intrudes other peoples conversations.
Diagnosis of ADHD?
Full clinical and psychosocial assessment
Observer reports
Assessment of patient mental state
Full developmental and psychiatric history
Risk factors for ADHD?
Prematurity
Low birth weight
Low paternal education
Prenatal smoking
Maternal depression
Foetal Alcohol Syndrome
Treatment examples for ADHD?
Psychoeducation
Behavioural management
Medication
Psychological therapies
Medications for ADHD?
Medication is an option after conservative management has failed or in severe cases.
Examples include:
Methylphenidate (“Ritalin“)
Dexamfetamine
Atomoxetine
Methylphenidate is a medication from a group called CNS stimulants. How do these work?
Act to boost norepinephrine and dopamine neurotransmission in the prefrontal cortex.
These neurotransmitters play important roles in your ability to pay attention, think and stay motivated.
Why is methyphenidate (“ritalin”) first line for ADHD in children and adolescents?
It appears to have a favourable effect on reducing the core symptoms of excessive hyperactivity, impulsivity, and inattention in children and adolescents with ADHD.
