Autism
Overview
Persistent deficits in social communication and reciprocal social interaction
Restricted, repetitive and inflexible patterns of behaviour, interests , or activities
Prevalence
Between 1 in 40 to 1 in 500 in population
8 year old kids = 1 in 23 boys and 1 in 88 females
4 times more common in males to females
Likely underdiagnosed in females
Prevalence of ASD in sibling of a child with ASD = 10%
Associations
33 to 45% of patients with ASD have intellectual disability (ID)
At least 50% have ADHD
30% have epilepsy
The more severe ID, the more severe epilepsy
Genetic associations including Tuberous schlerosis complex, Fragile X, Angelman Syndrome, Chromosomal syndromes, Rett, Cohen, Down, NF1, Noonan, Di George, Charge
Anxiety
ODD
Depression
Tics
Poor sleep
Poor feeding
Pathogenesis
Genetic factors that alter brain development
Specifically neural connectivity
Thereby affecting social communication development and leading to restricted interests
Epigenetic theory suggests abnormal gene is turned on early in foetal development
Probably multiple genes
Exposure to epigenetic factors and environmental modifiers contribute
High concordance in monozygotic twins
Parental Age
Advanced parental age = increased risk ASD
Environmental
May account for few cases of ASD but probably constitute a ‘second hit’
Some evidence that the broad class of conditions that compromise perinatal and neonatal health may increase risk
Abnormal presentation, low birth weight, meconium aspirate
Maternal conditions include diabetes, obesity, hypertension, pre-eclampsia
Presentation
Early signs
Lack of orientation to name by 12 months
Lack of pointing or gesturing to indicate interest by 14 months
Lack of pretend play by 18 months
Avoiding eye contact or wanting to be alone
Repeating words or phrase
Upset by minor changes
Obsessive traits
Flapping hands, rocking body, spinning in circles
Sensory reactions to sounds, smell, taste, look, feel
Plateau of social skills after early development
Lack of interest in socialising, absent or delayed speech, resistance to change, restricted interests
Impaired Social Communication
Social intereaction
Absent or limited interest in social interaction
Lack of social play behaviours, such as copying play of peers
Inappropriate response to another’s bid for social interaction
Failure to make eye contact when called by name
Joint attention
Two or more people paying attention to a joint object whilst talking to each other
Emerges at 8 to 10 months
Kids with ASD have limited or delayed joint attention
Non-verbal communication
Inability to use and interpret nonverbal behaviours such as shared eye gaze, facial expression, intonation, gestures, body posture and head and body orientation
May avoid eye contact, gaze to intent, or gaze at body or face not eyes
Pragmatic language
Skills needed to select the right words for the situation
ASD people have impaired pragmatic skills
Not using language as a tool for communicaiton
Difficulty initiating or sustaining a conversation
Difficulty producing for sustaining a conversation
Difficulty maintaining a topic of conversation
Developing and sustaining friendships
Social cognition
Involves imagining or knowing about the bliefs, desires, intentions and emotions of others and the ability to guess at the actions that others are like to take
ASD people misunderstand the emotional responses of others e.g believing someone is scared when they are happy, or not understanding someone is in pain
Not noticing that a social partner is not interested in their preferred topic of conversation
Inability to understand the difference between acquaintances, friends and intimate relationships
Social interaction and relationships
Little or no interest in developing relationships
Solitary play
Or play that involves a mechanical aid e.g. using the hand of a caregiver to obtain a desired object
Repetitive Behaviour, Interests, Activities
Hand or finger flapping, twisting, rocking, swaying, dipping, walking on tiptoe, are core symptoms of ASD
Kids may line up an exact number of playthings in the same manner in a sterotyped ritual
Delayed echolalia
Insistence of sameness / resistance to change
Always eat foods in a specific order
Always follow the same route from one place to another
Always talking about the same things
Scripted play e.g. mimicking what has been seen on TV
Not tolerating deviation from normal or expected
Restricted Interests
Interest in mechanical topics like trains or cars is normal, ASD kids have difficulty shifting their attention away from their preferred topic
Preoccupation with unusual objects e.g. ceiling fans, vacuum cleaners
Atypical response to sensory stimuli
Visual inspection of objects out of the corner of the eyes
Preoccupation with edges, spinning objects, shiny surfaces, lights, odors
Refusal to eat foods with certain tastes or textures
Preoccupation with sniffing or licking non food objects
Tactile defensiveness
Apparent indfiference to pain
Hyperesensitivity to particular sounds
Other Clinical Features
Abnormal gait, clumsiness, toe-walking, hypotonia
Macrocephaly
25% have HC > 97th centile
Special skills = savant
Memory, maths, music, art, puzzles
Complementary and alternative therapies
Healthy Lifestyle
Healthy diet
Regular exercise
Adequate sleep
Management of stress
Social support
Avoidance of neurotoxins
Vitamin D supplementation to meet daily requirements might be needed
Treatments with NO evidence of benefit
Secretin (GIT hormone)
Facilitate communication
Treatments with possible benefit, potential risk
Gluten free casein free diet
Not recommended unless evidence of coeliac disease or true gluten sensitivity
Evidence of efficacy is limited and weak
Strict adherence to the diet is difficulty and may be associated with nutritional deficiencies
Treatments with unknown benefit, possible risk
IVIG
Chelation
Hyperbaric oxygen
Antimicrobials including antifungals
Vitamiin B6 and Magnesium
Vitamin A
Vitamin D without deficiency
Homeopathic rememdies
Vagus nerve stimulation
Stem cell transplant
Treatment with possible benefit, low risk
Music therapy
Melatonin
Oxytocin
Therapeutic horseback riding
Animal / pet therapy
Transcranial magnetic stimulation
Other interventions - Lack evidence but are likely safe
Yoga
Body work and energy therapies
Hypnotherapy
Vitamin D up to 2g
Vitamin B12
Omega-3 Fatty acids
Probiotics
Cannabinoids
Zinc
Herbs
Amino acids
Acupuncture
Chiropractic