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18 Cards in this Set

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What is the cause of ASD?

There is no one cause.




Combination of ASD risk genes and environment.

What constitutes a global development delay?

Significant delay: 2 SD's on 2 or more developmental domains.




Developmental domains: motor, speech & language, adaptive skills, social, cognition.

What constitutes Intellectual Development (ID)?

1. Deficits in intellectual functioning.


- IQ < 70 (measures: WISC, SBS, DAS)


2. Deficits in adaptive functioning.


- communication, social, daily living skills (measures: Vineland, ABAS)


3. Onset during development, not TBI.

There is a ______% overlap between ID and ASD.

20 - 70%

List three differences between ID and ASD.

1. Distribution of skills (ASD = scattered; ID = evenly distributed).


2. ID = Even verbal; ASD = non-verbal.


3. ID = Language delay; ASD = atypical language


4. ID = compensate verbal difficulties through gestures, facial expression and eye contact. ASD = limited/no compensation.


5. ID = comparable with mental age; ASD = lower then expected based on mental age.


6. ID = adaptive skills similar or better then mental age; ASD = lower then mental age.


7. ASD = reports of skill regression.

DSM-V criteria for language disorder includes...?

1. Marked delay in receptive language or expressive language skills in absence of other developmental issues.


i) Grammatical, semantic, social, non-verbal


ii) expressive, receptive or both




Can affect sign, spoken and written language, and speech production.



Hyperlexia (HPL) can be an ASD warning sign. What is the % of comorbidity with ASD?

5- 10%

HPL manifests:





Manifests:


1. high level of word decoding/early readers


2. discrepancy between single word reading level and comprehension





HPL: What might this be associated with?

May be associated with obsessive behaviour (over practicing) and/or general language.communicative difficulties.

What are three medical co-morbidities?

1. Seizures: 25% of ASD cases


2. Insomnia & abnormal sleep patterns: 60% of ASD cases.


3. Gastrointestinal symptoms: reported statistics of 9 - 91%, figures no really known.


i) constipation (6-45%), diarrhoea (3 - 77%), bloating/abdominal pain (2 -41%).

What is Pica?

The problem of consuming non-food products.

All girls with ASD should be monitored for what genetic co-morbidity?

Rett syndrome

Common genes/risk factors in ASD are:

1. ADHD


2. Schizophrenia


3. Depression


4. Bipolar

List two genetic syndrome co-morbidities.

i) Fragile X: 30 - 60% meet ASD criteria


ii) FMR1 mutations (2%)


iii) Down syndrome (7%)


iv) Turner Syndrome


v) PTEN (macrophaly) (1-17%)


vi) Cowden Syndrome


vii) Bannayan-Riley-Ruvlacaba Syndrome


viii) Rett Syndrome

Genetic causes for these include:

1. Chromosomal abnormalities:


i) 5% copy number variants (deletion, duplicates approximately 10-20%)




2. Single gene disorders (5%)

List three symptoms of Angelman Syndrome?

1. Delayed development (6-12 months)


2. Seizures/epilepsy (EEG abnormalities)


3. Micropcephaly


4. Happy demeanour: hand flapping, smiling, laughing, hyper


5. Water fascination


6. Distinctive facial features: flattened back of head, deep set eyes, wide ever-smiling mouth, prominent jaw, widely spaced teeth, lightly pigmented hair, skin and eyes.


7. Sleep difficulties

Angelman Syndrome can easily be mistaken for ASD due to common symptoms. What is the major difference between the two?

Individuals with Angelman Syndrom are typically highly sociable, whereas individuals with ASD are not.

Behavioural Co-morbidities include:

1. Anxiety, OCD & Tic disorders: 66.5%


i) 11% vocal or motor tics


2. ADHD: 59.1%


3. Phobias: 52.7%