Neurodevelopmental Disorders Flashcards
What is autism spectrum disorder?
Neuro developmental disorder that affects a person’s social interaction, communication and behaviour
Usually diagnosed in childhood
Risk factors for ASD
Premature
Perinatal hypoxia
Advanced maternal or paternal age
ASD is a feature of these genetic syndromes
Fragile X syndrome
Tuberous sclerosis
Angelmann syndrome
Pathophysiology of ASD
Genetic aetiology: microarray And chromosomal analysis
Multiple genes and environmental factors involved
Sub-cortical hyperintensitiies in temporal poles
Clinical features of ASD
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
Abnormality of social interaction
Poor eye contact
Failure to use facial expression or body language
Problems making friends with peers, difficulty in reading social situations
Impaired social communication
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
Restrictive or repetitive activities
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
Examination of a child with ASD
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
Diagnosis of autism
One of the following features present from before the age of 3
A lack of social attachments
Abnormal/ delayed receptive or excessive speech development
Abnormal or lack of symbolic play
Differential diagnosis of ASD
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
Investigations for ASD
Symptoms should present consistently in different environments
MDT diagnosis, 2 people or more
School report
Educational psychologist, SALT, community paediatrician or child psychologist
Management of ASD
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
Co-morbid conditions in ASD
ADHD
Sleep disorders
Learning disabilities
Mental health conditions
What is ADHD
Neurobehavioural disorder
Hyperactivity, inattention, impulsivity
Inability to focus, stay still or concentrate
Impacts their daily life, particularly their education
Co-morbid conditions of ADHD
ASD Learning difficulties (dyslexia) Communication disorders Oppositional defiance disorder Depression Anxiety Tics Tourette syndrome
Pathophysiology of ADHD
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
Diagnosis of ADHD
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
Clinical features of ADHD
Hyperactivity, inattention, impulsivity
Impaired attention and over-activity
Disinhibition, recklessness and lack of adherence to social norms
DSM-V criteria
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
Inattention criteria DSM-V
Easily distracted by extraneous stimuli
Forgetful in daily activities
Often has difficulty sustaining attention in tasks or play activities
Hyperactivity criteria DSM-V
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
Impulsivity criteria DSM-V
Often has difficulty waiting turn
Often bursts out answers before questions have been completed
Examination for ADHD
CVS examination
HR, BP
Height and weight should be measured and plotted on a growth chart
Differential diagnosis ADHD
Auditory processing disorder
Oppositional-defiant disorder or conduct disorders
Depression
Anxiety
ADHD investigations
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
ADHD management pre-school children
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
Management of mid-moderate ADHD in school-age children with moderate impairment
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
Severe ADHD in school-age children with severe impairment
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
Medications licences for ADHD
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:
Side effects of ADHD medication
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
Adverse outcomes of ADHD
Increased substance abuse
More criminal convictions
Lower educational attainment
Unemployment