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AUTISM Dr.Kassab pediatric specialist-kjo hospital

What Is Autism ? : 

What Is Autism ? Autistic spectrum disorder (ASD) is a condition that affects how the brain functions. It affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. A person who has autism is said to have ASD. This is because the symptoms of autism can vary from person to person, and can range from mild to very severe. Asperger’s syndrome is an ASD, on the mild end of the spectrum.

There are 5 separate DSM-IV TR diagnostic entities under the umbrella of PDD : 

There are 5 separate DSM-IV TR diagnostic entities under the umbrella of PDD 1.Autistic Disorder 2.Asperger Syndrome 3.Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) 4. Rett Syndrome 5. Childhood Disintegrative Disorder

Facts about Autism : 

Facts about Autism Autism is a brain-based disorder, onset prenatal . Involves abnormalities in: Qualitative aspects of social development Qualitative aspects of communication development . Repetitive, stereotyped patterns of behavior & interests .

Facts about Autism : 

Facts about Autism Affects 4 males to 1 female Prevalence for autism is ~1/500; prevalence for ASD is ~1/250 Onset <36 months Some have regression before 24 m. Diagnosed based on presence of symptoms (no medical test, no medical cure)

Facts about Autism : 

Facts about Autism Most cases have no known cause Most cases probably heritable If have a child with autism, ~8% risk for autism in later-born children 20-40% of siblings of a child with autism have language and/or social deficits No known racial, ethnic, or social boundaries No relation to family income, lifestyle

Facts about Autism : 

Facts about Autism Around 70% of people with autism have an IQ below 70 (the average IQ of the population is 100). This is classed as a learning disability. Some people with autism have normal or high intelligence. There is no single behavior or symptom which can either rule-in or rule-out an autism spectrum disorder

Rationale for Studying Early Markers for Autism : 

Rationale for Studying Early Markers for Autism Parents report first concerns around 18 m. Parents often say babies not ‘normal’ even before first concern Retrospective studies indicate abnormalities present by 12 months of age in some cases Brain abnormality as early as prenatal life Early intervention may have great benefit Most cases are diagnosed after 3 years of age

Challenges to Early Identification : 

Challenges to Early Identification Absence of standardized diagnostic tools for children under 24 months Absence of diagnostic criteria for children under 24 months Physician time with child is brief Children often have normal appearance Physicians not trained in infant development (wait & see)

Symptoms : 

Symptoms The first symptoms of ASD usually appear when the person is under two years old, and last throughout life. Some people who have autism also have a learning difficulty. This is when they find it harder than most people to learn new skills. Symptoms of ASD can be divided into three main groups. They are: social interaction, communication, and routine and repetitive behaviour.


WHAT IS SOCIAL INTERACTION Social interaction is a reciprocal process in which children effectively initiate and respond to social stimuli presented by their peers.

Loneliness : 

Loneliness Social interaction deficits is a major characteristic in autistic children. Children who have poor social interaction skills with peers are considered to be at greater risk for experiencing loneliness. Therefore, children with autism may be at a greater risk for having feelings of loneliness, as well (Bauminger, Shulman, & Agam, 2003). Studies also show that these children have a poor understanding of why they have these feelings of loneliness (Orsmond, Krauss, & Seltzer, 2004



Characteristics Include: : 

Characteristics Include: Emotional Impulse Control Conforming and Friendly Behaviors Cooperative Play (Playing well with others) Assertive Leadership Skills Helping Sharing Comforting Behavior (Hart, Fujiki, Brinton, & Hart, 2004)



Characteristics Include: : 

Characteristics Include: Poor Social Interaction Initiation Social Isolation in Less Structured Environments Difficulty Linking Emotions to Different Social Situations Difficulty Understanding the Causes of Emotions Fail to Consider the Perspective of Others Lack of Reciprocity (Bauminger, Shulman, & Agam, 2003)

Social interaction Issues : 

Social interaction Issues A child who has ASD may find it hard to get on with other people. They may: seem distant or detached, have little or no interest in other people, and find it difficult make friends, not seek affection in the usual way, or resist physical contact such as kissing and cuddling, find it difficult to make eye contact with other people, not understand other peoples emotions, and prefer to spend time alone.

Communication Issues : 

Communication Issues A child who has ASD may develop speech later than other children, or never learn to speak. When their speech does develop, the language and choice of words they use may be wrong. A child with ASD may also: not be able to express themselves well, not be able to understand gestures, facial expressions, or tones of voice, use odd phrases and use odd choices of words, use more words than is necessary to explain simple things, make up their own words or phrases, not use their hands to make gestures when they speak, and find it difficult to understand difficult commands.

Early Communication Deficits : 

Early Communication Deficits Abnormal to and fro mother/infant vocalizations at 5-6 months Babbling that does not increase in complexity Failure to respond to name . Greater proportion of syllables with atypical phonation (e.g. squeals, growls, and yells) Delayed receptive and expressive language milestones

Early Communication Deficits : 

Early Communication Deficits Delayed and decreased use of gestures Conventional gestures (e.g., showing, waving, pointing) Symbolic gestures (e.g., nodding head, depicting actions) Mostly primitive motoric gestures to communicate (e.g., contact gesture of leading or pulling another’s hand, instrumental communication) Myers SM. “Autism Spectrum Disorders: Important Issues and New Resources.” Lecture delivered at DB:PREP An Intensive Review of Developmental-Behavioral Pediatrics sponsored by the American Academy of Pediatrics. December 5, 2008 Atlanta, GA.

Early Communication Deficits : 

Early Communication Deficits Increased idiosyncratic or inappropriate means of communication Self-injurious behavior, aggression, tantrums Echolalia Immediate (e.g., response to questions) Delayed (scripted verses, reciting memorized dialogue) Implies impaired comprehension Pronominal reversal (often, “you” for “I” or “me”) Inconsistent use of words- “pop-up” words Labeling skills>>functional language Appearance of expressive>receptive skills, but not functional Hyperlexia- early, self-taught decoding of written language

Routine and repetitive behaviour : 

Routine and repetitive behaviour Children with ASD may: play the same games over and over, or play with games designed for children younger than themselves, get upset if their daily routines are interrupted in any way, and repeat actions, such as rocking back and forth or head banging. These symptoms may lead to hyperactivity in younger children. Older children and adults may develop obsessions. For example, with specific objects, lists, timetables or routines.

Sensory difficulties : 

Sensory difficulties Some children with ASD also have sensory difficulties. This means that they may get upset if they are over or under stimulated. For example, they may prefer being indoors if they are over sensitive to light, or they may bump into people if they are under sensitive to touch. Sensory difficulties can also lead to problems with movement. A person with ASD may appear clumsy or have an unusual way of walking.


Diagnostic Criteria from the DSM-IV AMERICAN PSYCHIATRIC ASSOCIATION A. A total of at least six (or more) items from (1), (2) and (3) must be present, with at least two from (1) and at least one from  each of (2) and (3).

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(1) Qualitative impairment in social interaction, as manifested by at least two of the following: (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction;  (b) failure to develop peer relationships appropriate to developmental level

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(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest) (d) lack of social or emotional reciprocity

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(2) Qualitative abnormalities in communication as manifested by at least one of the following: (a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gestures or mime) (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

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(c) stereotyped and repetitive use of language or idiosyncratic language (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

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(3) Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (a) encompassing preoccupation with one or more stereotyped patterns of interest that is abnormal either in intensity or focus (b) apparently inflexible adherence to specific, nonfunctional routines or rituals

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(c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (d) persistent preoccupation with parts of objects

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B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:   (1) Social interaction   (2) Language as used in social communication, or   (3) Symbolic or imaginative play C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.

جدول IV DSMللمعايير التشخيصية للتوحد Diagnosic & Statistical Manual of Mental Disorders 1996 : 

جدول IV DSMللمعايير التشخيصية للتوحد Diagnosic & Statistical Manual of Mental Disorders 1996

Possible Specific Symptoms of Autism The Importance of Early Diagnosis in Autism : 

Possible Specific Symptoms of Autism The Importance of Early Diagnosis in Autism At 18 months, an infant with autism may: •Be late to smile or not smile •Not demonstrate attachment behaviour especially to his/her primary caregiver •Avoid people’s gaze •Not reach out, even in anticipation of being picked up•Not seek comforting or may be difficult to soothe •Prefer to be alone •Not cuddle Autism Society Ontario

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•Exhibit simple repeated actions with their body, such as flapping their hands or rocking •Exhibit simple repeated action with objects, such as the wheels of a toy car •Have an intense dislike of any changes in routines or the surroundings Autism Society Ontario

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• Show a lack of nonverbal communication: -no gestures to communicate -no response to body language -not copying facial expressions or gestures, such as pointing, clapping or waving •Show a lack of response to attempts to communicate with the infant Autism Society Ontario

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for one and a half to four year olds with autism Children with autism may: •Prefer to be alone •Not come for comfort, even when ill, hurt or tired •Not imitate or have impaired imitation •Avoid people’s gaze •Lack an awareness of other people’s existence

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•An older child may exhibit a failure to greet people or take turns while playing or interacting •Have delayed language development •Have weak language comprehension •Fail to develop language for communication, e.g. the child does not use language to ask for something •Lack appropriate gestures •Have unusual first words

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Tend to repeat what is said to him or her •Display an unusual manner of talking, e.g. with unusual tone, off-rhythm, squeaky, or sing-song voice •Strangely manipulate objects, e.g. spinning them or aligning them •Have unusual body movements, e.g. hand-flicking or hand twisting, spinning, head-banging, or whole body movements

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•Persistently be preoccupied with parts of objects •Show an attachment to unusual objects •Show marked distress over changes in trivial aspects of the environment •Show an unreasonable insistence on following routines in precise detail •Have difficulty in toilet training •Have extreme fears

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in children aged four years & older Children with autism may: •Not imitate others •Treat people like objects •Lack an awareness of the existence or feelings of others •Not play with other children •Lack or have unusual emotional responses •Be socially unresponsive

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•Be indifferent or respond negatively to physical affection •Show no interest in making friends •Not understand conventions of social interaction, such as turn-taking •Not initiate interactions •Be socially awkward

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•Show little expressive language •Have delayed language development •Rarely or never use appropriate gestures •Show improper use of pronouns, statements and questions •Fail to initiate conversation •Say strange things •Have unusual tone or rhythm of speech •Not use speech in a meaningful way

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•Repeat remarks made by others •Frequently make irrelevant remarks •Have great difficulty with abstract language •Be preoccupied with one or only a few narrow interests •Have an excessive need for sameness •Show an attachment to unusual objects

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•Show market distress over changes in trivial aspects of the environment •Show unreasonable insistence on following routines in a particular and rigid way •Twirl sticks, or flap pieces of paper •Be fascinated with spinning objects •Adhere to routines •Be very good at rote memory tasks such as repeating lists of items or facts

Causes : 

Causes Symptoms of ASD are caused by an abnormality in the development of the brain that occurs before, or soon after birth. Some evidence shows that having a defective gene may be a risk factor in developing ASD. These genes may be inherited, and the chance of you having ASD if your brother or sister has it, is slightly higher than in the rest of the general population. Some research suggests that environmental factors such as pollution or viruses such as rubella (German measles) may trigger ASD. However, ASD is not a result of anything that a parent has done either during pregnancy or after the child is born.

Diagnosis : 

Diagnosis Getting a diagnosis for autistic spectrum disorder (ASD) is important, to enable access to the right services and treatments to support individual needs. ASD may be difficult to diagnose as symptoms can vary considerably from person to person, and mild symptoms can be hard to spot.

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The most common age for diagnosis is between three and four years old. However, some people may not be diagnosed until they are older, especially if they have mild symptoms. ASD isn’t usually diagnosed before a child is two years old. Diagnosis in adults Some people aren’t diagnosed with ASD when they are children, especially when symptoms are very mild.

AUTISM SPECTRUM DISORDERS: Diagnostic Evaluation : 

AUTISM SPECTRUM DISORDERS: Diagnostic Evaluation Ideally, should be multidisciplinary All must be knowledgeable and experienced in ASD Evaluation by a physician specializing in ASD: Developmental Pediatrician, Psychiatrist, Neurologist HISTORY: Medical, Behavioral, Psychosocial, Developmental, and Family History Physical and Neurological Examination Additional medical, genetic or neurologic tests as clinically indicated

characteristics of autism at an early age. : 

characteristics of autism at an early age. Autism can be diagnosed in children as young as 12 months old. This is extremely important because the studies have shown that the earlier treatment and therapy can begin, the better chance of success for that child later in life.

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When autism is suspected in a young child, common things to look for include: No smiling or cooing by 6 months No back and forth interaction by 9 months Lacking eye contact Delayed speech No response to own name by 12 months No two-word phrases by 24 months Lack of social interaction by 24 months

Tests for ASD : 

Tests for ASD There are no specific tests for ASD, although other tests such as hearing tests and blood tests may be done to rule out other health conditions. no link between the MMR vaccine and ASD. Research shows that more children are diagnosed with ASD now than 10 years ago and the number of children receiving the MMR vaccine has stayed the same.

Treatment For ASD : 

Treatment For ASD There is no treatment that can ‘cure’ autistic spectrum disorder (ASD). However, there are many ways in which a person with ASD can get support to manage their condition. These methods of management and support are often called ‘interventions’. Many people with ASD will require specialist care and support throughout their lives. A lot of different health professionals will work as a team to care for them.

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The aim of interventions is to help a person with ASD to speak and communicate better, and to get along better in education and at work. Health professionals think that interventions work better when a child with ASD starts them from a young age.

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Because ASD differs from person to person, the type of support a person needs will depend on their own individual circumstances. It will also depend on what services and treatments are available in the area that you live. Although not a treatment in itself, a psychologist may set tests to help decide the best treatment options.

Autism Spectrum Disorder: Outcome : 

Autism Spectrum Disorder: Outcome Rates of mental retardation decreasing over time as the diagnostic criteria broaden Autism symptomatic improvement through adolescence and early adulthood is common 20% to 30% may show behavioral deterioration in adolescence. 20-33% prevalence of epilepsy . Up to 40% experience a comorbid psychiatric disorder Higher mortality rate than the general population However, many will outlive their parents

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Adaptive behavior is usually markedly lower than intelligence Possibly related to impaired connectivity in frontal cortex Independent living compromised even with normal IQ Those who do spend time in the community are at increased risk for victimization or exploitation AS individuals are at greater risk for negative outcomes compared to non-affected peers in areas of independent living, employment success, social relationships, psychiatric illness including suicide


REFERENCES-1 Johnson CP, Myers SM, et. al. Identification and Evaluation of Children With Autism Spectrum Disorders. Pedaitrics 2007; 120; 1183-1215. Myers SM, Johnson CP, et. al. Management of Children With Autism Spectrum Disorders. Pediatrics 2007; 120; 1162-1182. American Academy of Pediatrics, Committee on Children With Disabilities. The Pediatrician’s Role in the Diagnosis and Management of Autistic Spectrum Disorder in Children. Pediatrics. 2001;107,5:1221-1226 Filipek PA, Accardo PJ, Ashwal S. et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommitteee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000;55:468-479 Offit, Paul A, Autism’s False Prophets: bad science, risky medicine, and the search for a cure. Columbia University Press, 2008. Kanner L, “Autistic Disturbances of Affective Contact,” Nervous Child 2 (1943): 217-250.


REFERENCES-2 National Research Council (2001) Educating Children with Autism. Committee on Educational Interventions for Children with Autism. Catherine Lord and James P. McGee, eds. Division of Behavioral and Social Sciences and Education. Washington, DC: National Academy Press. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Washington, DC, American Psychiatric Association, 2000. Handbook of Autism and Pervasive Developmental Disorders, 3rd Edition. Fred R. Volkmar, Rhea Paul, Ami Klin, Donald Cohen, eds. John Wiley & Sons, Inc., Hoboken, New Jersey, 2005. Asperger Syndrome. Ami Klin, Fred R. Volkmar, Sara S. Sparrow, eds. The Guilford Press, New York, NY, 2000. Asperger Syndrome. Ami Klin, Fred R. Volkmar, eds. Child and Adolescent Psychiatric Clinics of North America, 12:1, 2003. Developmental-Behavioral Pediatrics, Third edition. Melvin D. Levine, William B. Carey, Allen C. Crocker, eds. W.B. Saunders Co., 1999.

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