developmental disorder. Probable multiple pathophysiology being combination of genetic and environmental factors.
Diagnosis depends on recognition of observable
behaviours which occur as a result of the basic abnormality. Autism Diagnostic Observation Schedule-2 (ADOS-2)
Strong genetic component (twin studies) and siblings
of an autistic child are have increased risk of a range of other neuropsychiatric conditions.
(1) DSM V Criteria
(2) Clinical features of autism
Parents often notice developmental delay before 2yo. 50% have intellectual impairment. Social Problems
Impaired reciprocal-social interaction
Difficulty with gaining "joint attention" for an
activity
General personality lacks social spontaneity
Relate to objects with difficulty in understanding
and relating to people
Diminished awareness for the feelings of others
Failure to seek the usual comfort when distressed
Reduced or abnormal socially responsive eye
contact
Reduced symbolic and imaginative and social
play Communication Problems
Impaired spoken language and communication
o 20% have regression or stagnation of language/social development at 18 to 24 months o May stop saying words but do progress in other developmental domains
May have abrupt progress of language/social
development around 4 years
Semantic pragmatic difficulties (contextual and
social use of language) always present
Other features of language disorder variable
One sided conversations with abnormal form and
content eg. echolalia, confused pronouns
Abnormal social use of language eg, literal
interpretation
Impaired non-verbal communication
Repetitive, stereotyped patterns of interest and activity
Repetitive behavior
Obsessional interests
Restricted range of interest and dislike of novelty
Obsessive desire to maintain ritual and constancy
Insistence on sameness Sensory sensitivities eg, to noise or touch (3) Diagnostic Studies
Instrument for diagnosing and assessing autism
using a series of structured and semi-structured tasks that involve social interaction between the examiner and the subject Conducted by pediatricians, child psychologists or child psychiatrist. Organized by Autism Spectrum Australia (Aspect)
Studies to rule out organic pathology
Metabolic studies if symptoms of metabolic
disease, several system involved, or lack of neonatal screen.
EEG studies if history of seizures, regression or
sleep related epilepsy
Imaging studies for specific indications, mainly
MRI
Genetic studies
CPK if muscle weakness or other signs of
Duchenne muscular dystrophy (4) Management Social support
early intensive intervention programs with
educational focus
Improving social, communication and play skills
o Speech and language therapy programs
Psychological interventions in more competent
older child eg cognitive behaviour therapy
Special education
Family involvement, education and training
Parental counselling: Address any parental
concerns or feelings of guilt Autism Pharmacotherapy No pharmacological treatment for core impairment. Medications provide an opportunity for interaction and learning, improved adaptive (daily) functioning and independence. Need for Medications Qn: How much interference is there to daily activities? General monitoring: BP, BMI, PR, sleep disorders Treatment of target symptoms 1. Aggression
Aggression responds to first and second
generation antipsychotics e.g. Risperidone 2. Attention deficit disorder (ADHD occurs in 50%)
Stimulant methylphenidate e.g. Ritalin
Non-stimulant Atomoxetine e.g.
Strattera 3. Obsessive or repetitive behaviours Repetitive behaviours may have a self-calming purpose in autism and should only be medicated if they are causing self-injury. SSRIs helpful in reducing aggression. Rmb to warn parents that it may take 6 weeks for effects to begin showing.
SSRI Fluoxetine e.g. Prozac, Lovan
SSRI Sertraline e.g. Zoloft
4. 5.
6.
SSRI Fluvoxamine e.g. Luvox
Excessive anxiety
TCA e.g. Imipramine
Tic disorders
2-agonist e.g. Clonidine, guanfacine
also shows some reduction in impulsivity and aggressive outbursts. Clonidine short-acting, guanfacine longer-acting. Sleep disorder Many children with autism have interrupted sleep patterns. Autistic children may have low levels of melatonin.