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AUTISM
AN WENXIN
HUANG JINGJING
WANG TINGYOU
ZHANG YIHUAI
APRIL 10, 2014
WHAT IS AUTISM?
Autism is a complex neurological disorder that affects one’s
communication and socialization ability.
Autism is typically evident by Age 3 (can now be diagnosed as early
as 6 months old)
The main signs and symptoms of autism
Communication—both verbal (spoken) and non-verbal
Social interactions—sharing emotions, understanding others’ thinking and
feeling, holding a conversation, interaction.
Routines or repetitive behaviors—stereotyped behaviors
AUTISM SPECTRUM DISORDER (ASD)
DSM-5
May 2013
Diagnostic and Statistical Manual (DSM), American Psychiatric Association
2008 Hong Kong reported a
prevalence of 1.68 per 1000
for children under 15
Overall 4:1 male to female
sex ratio
Diagnostic and Statistical Manual 5th edition
WHAT CAUSES AUTISM?
• Environmental factor: drugs, chemicals, infectious
agents?
• Perinatal and neonatal factors: abnormal presentation,
umbilical-cord complications, fetal distress, birth injury
etc.
• Parental psychiatric history
• Other uncertain factors: neurological, infectious,
metabolic, and immunologic factors
GENETIC FACTORS
• Not just one gene (12 or more genes on different
chromosomes)
• Some gene may cause greater risk—susceptibility, while
some genes may cause specific symptoms or determine the
severity; or genes with mutations might add to the symptoms of
ASD
• the disorder is complex, autism is probably the result of
many causes.
WHY STUDY GENES TO LEARN ABOUT AUTISM?
• Studies of twins with autism–
identical twins(same gene) ---60% have ASD
and fraternal twins(similar gene)---0---6% have ASD
• Family studies of autism—
a brother or sister of someone who has autism will also have
autism is between 2 percent and 8 percent
some of the autism-like symptoms occur more often in parents
and adult brothers and sisters of people with autism
• Diagnosable disorders and autism—
Similar disorders or conditions with similar symptoms may have
similar genetic beginnings. For example, many people with ASDs
also have epilepsy(癫痫), which could be clues to know what
happens in autism .
WHAT HAVE RESEARCHERS
FOUND BY STUDYING GENES AND
AUTISM?
• Chromosome 2—HOX genes, critical to building the brain stem and the
cerebellum
• Chromosome 7--- a region of chromosome 7 is also related to speech
and language disorders. Because ASDs affect these functions, autism
may involve this chromosome.
• Chromosome 13—
• Chromosome 15—Genetic errors on this chromosome cause Angelman
syndrome and Prader-Willi syndrome, both of which share behavioral
symptoms with autism
• Chromosome 16— a genetic error on this chromosome causes
tuberous sclerosis,a disorder including seizures.
• Chromosome 17—Missing or disrupted genes on this chromosome can
cause problems, such as galactosemia. Chromosome 17 also contains
the gene for the serotonin transporter, which allows nerve cells to collect
serotonin. can cause obsessive-compulsive disorder (OCD)
• The X chromosome--
Two disorders that share symptoms with autism—Fragile X syndrome
and Rett syndrome
CMA-chromosomal
microarray analysis
WHAT DOES THE FUTURE HOLD FOR
STUDIES OF GENES AND AUTISM?
• Early detection using gene test---early
intervention
• Develop drugs that change or regulate the gene
or genes to help normalize body chemicals and
body functions
• gene-environment interactions ---understanding
genetic and environmental causes of autism,
scientists may better understand how to treat it
and maybe even how to prevent it.
• Link:
http://www.youtube.com/watch?v=4xi9l79OZ1w
Autism and gene

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Autism and gene

  • 1. AUTISM AN WENXIN HUANG JINGJING WANG TINGYOU ZHANG YIHUAI APRIL 10, 2014
  • 2. WHAT IS AUTISM? Autism is a complex neurological disorder that affects one’s communication and socialization ability. Autism is typically evident by Age 3 (can now be diagnosed as early as 6 months old) The main signs and symptoms of autism Communication—both verbal (spoken) and non-verbal Social interactions—sharing emotions, understanding others’ thinking and feeling, holding a conversation, interaction. Routines or repetitive behaviors—stereotyped behaviors
  • 3. AUTISM SPECTRUM DISORDER (ASD) DSM-5 May 2013 Diagnostic and Statistical Manual (DSM), American Psychiatric Association 2008 Hong Kong reported a prevalence of 1.68 per 1000 for children under 15 Overall 4:1 male to female sex ratio Diagnostic and Statistical Manual 5th edition
  • 4. WHAT CAUSES AUTISM? • Environmental factor: drugs, chemicals, infectious agents? • Perinatal and neonatal factors: abnormal presentation, umbilical-cord complications, fetal distress, birth injury etc. • Parental psychiatric history • Other uncertain factors: neurological, infectious, metabolic, and immunologic factors
  • 5. GENETIC FACTORS • Not just one gene (12 or more genes on different chromosomes) • Some gene may cause greater risk—susceptibility, while some genes may cause specific symptoms or determine the severity; or genes with mutations might add to the symptoms of ASD • the disorder is complex, autism is probably the result of many causes.
  • 6. WHY STUDY GENES TO LEARN ABOUT AUTISM? • Studies of twins with autism– identical twins(same gene) ---60% have ASD and fraternal twins(similar gene)---0---6% have ASD • Family studies of autism— a brother or sister of someone who has autism will also have autism is between 2 percent and 8 percent some of the autism-like symptoms occur more often in parents and adult brothers and sisters of people with autism • Diagnosable disorders and autism— Similar disorders or conditions with similar symptoms may have similar genetic beginnings. For example, many people with ASDs also have epilepsy(癫痫), which could be clues to know what happens in autism .
  • 7. WHAT HAVE RESEARCHERS FOUND BY STUDYING GENES AND AUTISM? • Chromosome 2—HOX genes, critical to building the brain stem and the cerebellum • Chromosome 7--- a region of chromosome 7 is also related to speech and language disorders. Because ASDs affect these functions, autism may involve this chromosome. • Chromosome 13— • Chromosome 15—Genetic errors on this chromosome cause Angelman syndrome and Prader-Willi syndrome, both of which share behavioral symptoms with autism • Chromosome 16— a genetic error on this chromosome causes tuberous sclerosis,a disorder including seizures. • Chromosome 17—Missing or disrupted genes on this chromosome can cause problems, such as galactosemia. Chromosome 17 also contains the gene for the serotonin transporter, which allows nerve cells to collect serotonin. can cause obsessive-compulsive disorder (OCD) • The X chromosome-- Two disorders that share symptoms with autism—Fragile X syndrome and Rett syndrome CMA-chromosomal microarray analysis
  • 8. WHAT DOES THE FUTURE HOLD FOR STUDIES OF GENES AND AUTISM? • Early detection using gene test---early intervention • Develop drugs that change or regulate the gene or genes to help normalize body chemicals and body functions • gene-environment interactions ---understanding genetic and environmental causes of autism, scientists may better understand how to treat it and maybe even how to prevent it. • Link: http://www.youtube.com/watch?v=4xi9l79OZ1w