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![GENETICS
• Twin and family studies strongly suggest that some people have a genetic
predisposition to autism.
• Identical twin studies show that if one twin is affected, there is up to a 90 percent
chance the other twin will be affected.
ENVIRONMENT
• certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs,
phthalates and phenols used in plastic products, pesticides, brominated flame
retardants, alcohol, smoking, illicit drugs, vaccines,[9] and prenatal stress,[56]
although no links have been found, and some have been completely disproven.
• advanced parental age at time of conception (both mom and dad), maternal illness
during pregnancy and certain difficulties during birth, particularly those involving
periods of oxygen deprivation to the baby’s brain.](https://image.slidesharecdn.com/autism-181122093304/75/Autism-16-2048.jpg)
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Autism
Autism is a neurological disorder that affects social interaction and communication. It is characterized by repetitive behaviors and restricted interests. The causes are largely genetic but also involve environmental factors. Symptoms begin in early childhood and can range from mild to severe. Diagnosis involves observation of behaviors and developmental screening. While there is no cure, early intervention and support can help children with autism reach their full potential.
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Introduction to Autism as a complex developmental disorder affecting social interaction.
Definition of Autism and related disorders including Autism Spectrum Disorder, Asperger Syndrome, and PDD-NOS.
Statistics on autism incidence (1-2 per 1,000) and prevalence of ASD (close to 6 per 1,000). Mentioned increase in diagnosis and sex ratio (4.3:1 boys to girls).
Description of ASD symptoms, mainly impaired social interactions, and behaviors observed in infancy and childhood.
Characteristics of ASD behaviors including stereotypic movements, compulsive behavior, and unique skills exhibited by some autistic individuals.
Exploration of potential causes of Autism, including genetics and environmental factors.
Detailed study of genetic predisposition, environmental triggers, and their interplay in autism development.
Insights into brain alterations, neuroanatomy, neuropsychology, and theories related to autism's neurological basis.
Overview of early indicators of ASD, tests, and screening methods for diagnosis.
Identified risk factors during pregnancy including influenza, antibiotics, air pollution, and their associated increased risks of autism.
Outlined preventive strategies addressing environmental, genetic factors, and prenatal care to reduce autism risk.
Limited studies on long-term outcomes; factors influencing prognosis include early language acquisition and skill development.
Impression or expression from the perspective of an autistic child, possibly highlighting personal experiences.
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Autism
- 1.
- 2. WHAT IS AUTISM….??? •ASA: Autism is a complex developmental disability that typically appears during the first three years of life and is the result of a neurological disorder that affects the normal functioning of the brain ,impacting development in the areas of social interaction and communication skills. • Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize.
- 3. ASD • Autism SpectrumDisorder(ASDs) includes three disorders: Autism, Asperger Syndrome, which lacks delays in cognitive development and language, and Pervasive Developmental Disorder (commonly abbreviated as PDD-NOS), which is diagnosed when the full set of criteria for autism or Asperger syndrome are not met.
- 4. INCIDENCE AND PREVALENCE •1–2 per 1,000 for autism and close to 6 per 1,000 for ASD • The number of reported cases of autism increased dramatically in the 1990s and early 2000s. This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness • Boys are at higher risk for ASD than girls. The sex ratio averages 4.3:1 and is greatly modified by cognitive impairment: it may be close to 2:1 with intellectual disability and more than 5.5:1 without.[
- 5. SYMPTOMS •The hallmark featureof ASD is impaired social interaction- first appears during infancy or childhood, follows a steady course without remission.
- 7. •Infancy- baby maybe unresponsive to people or focus intently on one item to the exclusion of others for long periods of time. •May fail to respond to their names and often avoid eye contact with other people.
- 8. •Childhood-Repetitive movements suchas rocking and twirling, or in self-abusive behavior such as biting or head-banging. •They also tend to start speaking later than other children and may refer to themselves by name instead of “I” or “me.” •They lack the necessary playing and talking skills.
- 10. • Socially clumsy,sometimes offensive in his/her comments, or out of synch with everyone else. • Conversation with an autistic person may feel very much like a one-way trip. • They may lack empathy. • They find sudden loud noises, smells and sudden changes in the intensity of lighting and ambient temperature unpleasant and quite shocking. • Their cognitive skills may develop fast, while their social and language skills trail behind. • The social skills will not develop at the same pace as other people's.
- 11. NAME DEFINITION Stereotype repetitivemovement, such as hand flapping, head rolling, or body rocking. Compulsive Behaviour It is intended and appears to follow rules, such as arranging objects in stacks or lines. Sameness resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted. Ritualistic Behaviour an unvarying pattern of daily activities, such as an unchanging menu or a dressing ritual. This is closely associated with sameness Restricted behavior is limited in focus, interest, or activity, such as preoccupation with a single television program, toy or game. Self-injury movements that injure or can injure the person, such as eye-poking, skin- picking , hand-biting and head-banging.
- 12. • An estimated60%–80% of autistic people have motor signs that include poor muscle tone, poor motor planning , and toe walking;deficits in motor coordination are pervasive across ASD and are greater in autism proper. • Physical health issues such as sleep and gastrointestinal disturbances. • Some persons with ASD excel in visual skills, music, math and art.
- 13. CAUSES •Scientists aren’t certainabout what causes ASD, but it’s likely that both genetics and environment play a role.
- 16. GENETICS • Twin andfamily studies strongly suggest that some people have a genetic predisposition to autism. • Identical twin studies show that if one twin is affected, there is up to a 90 percent chance the other twin will be affected. ENVIRONMENT • certain foods, infectious disease, heavy metals, solvents, diesel exhaust, PCBs, phthalates and phenols used in plastic products, pesticides, brominated flame retardants, alcohol, smoking, illicit drugs, vaccines,[9] and prenatal stress,[56] although no links have been found, and some have been completely disproven. • advanced parental age at time of conception (both mom and dad), maternal illness during pregnancy and certain difficulties during birth, particularly those involving periods of oxygen deprivation to the baby’s brain.
- 17. ONE IMPORTANT GENE CORRELATED BUT NON-IMPACTING GENES COMBINATIONACTIVATION OF BACKUP GENES COMBINATION COMBINATION ENVIRONMENTAL TRIGGERS ONE OR SEVERAL AUTISM GENES NON-AUTISM GENES CONTRIBUTE TO OVERLOAD MULTIPLE GENE- ENOUGH TO MEET THRESHOLD AUTISM MANIFESTED AUTISM- AVOIDED OR AMELIORATE D SPURIOUS (ILLUSIORY) CORRELATION
- 18.
- 19. PATHOPHYSIOLOGY • Neuroanatomical studiesand the associations with teratogens strongly suggest that autism's mechanism includes alteration of brain development soon after conception. • Just after birth, the brains of autistic children tend to grow faster than usual, followed by normal or relatively slower growth in childhood.
- 20. • Hypotheses forthe cellular and molecular bases of pathological early overgrowth include the following: 1. An excess of neurons that causes local overconnectivity in key brain regions. 2. Disturbed neuronal migration during early gestation. 3. Unbalanced excitatory–inhibitory networks. 4. Abnormal formation of synapses and dendritic spines. Disrupted synaptic development may also contribute to epilepsy, which may explain why the two conditions are associated.
- 21. • The underconnectivitytheory of autism hypothesizes that autism is marked by underfunctioning high-level neural connections and synchronization, along with an excess of low-level processes.
- 22. NEUROPSYCHOLOGY • The extrememale brain theory, hypothesizes that autism is an extreme case of the male brain, defined psychometrically as individuals in whom systemizing is better than empathizing. • Weak central coherence theory hypothesizes that a limited ability to see the big picture underlies the central disturbance in autism. One strength of this theory is predicting special talents and peaks in performance in autistic people.
- 23. DIAGNOSIS • ASD maygo unrecognized, especially in mildly affected children or when it is masked by more debilitating handicaps. • Very early indicators that require evaluation by an expert include: no babbling or pointing by age no single words by 16 months or two-word phrases by age no response to name loss of language or social skills poor eye contact excessive lining up of toys or objects no smiling or social responsiveness.
- 24. Later indicators include: impairedability to make friends with peers impaired ability to initiate or sustain a conversation with others absence or impairment of imaginative and social play stereotyped, repetitive, or unusual use of language restricted patterns of interest that are abnormal in intensity or focus preoccupation with certain objects or subjects inflexible adherence to specific routines or rituals.
- 25. • Tests andscreening method assissting in the diagnosis of ASD: Autism diagnostic Observation Schedule Autism /diagnostic Interview Childhood Autism Rating Scales Developmental Behaviour Checklist Social Communication Questionnaire
- 26. RISK • Influenza duringpregnancy - doubles autism risk for the child • Persistent fever during pregnancy - that lasted for at least one week triples autism risk for the child • Antibiotic usage during pregnancy - slightly raises autism risk for the child
- 27. • Immune systemirregularities-Caltech (California Institute of Technology) researchers reported in PNAS (Proceedings of the National Academy of Sciences) (July 2012) that certain changes in an overactive immune system can contribute to autism-like behaviors in mice. • Specific gene mutations - scientists from the Seattle Children's Research Institute found new gene mutations which were linked to the development of autism, epilepsy, hydrocephalus and cancer. The mutations were in the following genes - AKT3, PIK3R2 and PIK3CA. Their study was published in Nature Genetics (July 2012).
- 28. • Air trafficpollution during pregnancy and autism link - if a pregnant mother is exposed to air traffic pollution during her pregnancy, the risk of autism in her offspring is greater, researchers from the University of Southern California and Children’s Hospital Los Angeles reported in Archives of General Psychiatry (November 2012 issue).
- 29. PREVENTION •Prevention applies toenvironmental, genetic and infectious disorders as well as to accidental injuries. •Fetal Alcohol Syndrome is a highly common and totally preventable cause. •Provide proper pre-natal care. Folic acid should be taken before conception and early in pregnancy. •Certain tests, such as ultrasound, amniocentesis,chorionic villus sampling and various blood tests should be performed during pregnancy.
- 30. • Genetic counsellingshould be done. Prospective parents, especially couples who already have a child with mental retardation are keen to know the risk of their next child being affected. • Neonatal intensive care- Brain damage in very sick newborn babies can sometimes be prevented by providing highly specialized and technology-intensive care.
- 31. PROGNOSIS • Few high-qualitystudies address long-term prognosis. • Some adults show modest improvement in communication skills, but a few decline; no study has focused on autism after midlife.[ • Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism.
- 32. AN AUTISTIC CHILDSAYS…….
Editor's Notes
- #17 NOTE: these factors, by themselves, do not cause autism. Rather, in combination with genetic risk factors, they appear to modestly increase risk.