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JURNAL AUTISM JURNAL AUTISM Pembimbing : Pembimbing : dr. Iwan Sys, Sp KJ dr. Iwan Sys, Sp KJ Oleh: Oleh: Imelda Kusumaningrum (08.030.024) Imelda Kusumaningrum (08.030.024) Erdy kuswandana (08.030.037) Erdy kuswandana (08.030.037) FAKULTAS KEDOKTERAN FAKULTAS KEDOKTERAN UNIVERSITAS MUHAMMADIYAH MALANG UNIVERSITAS MUHAMMADIYAH MALANG
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Ppt Jurnal Autism

Apr 10, 2015

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Page 1: Ppt Jurnal Autism

JURNAL AUTISMJURNAL AUTISM

Pembimbing :Pembimbing :

dr. Iwan Sys, Sp KJdr. Iwan Sys, Sp KJ

Oleh:Oleh:

Imelda Kusumaningrum (08.030.024)Imelda Kusumaningrum (08.030.024)

Erdy kuswandana (08.030.037)Erdy kuswandana (08.030.037)

FAKULTAS KEDOKTERAN FAKULTAS KEDOKTERAN

UNIVERSITAS MUHAMMADIYAH MALANGUNIVERSITAS MUHAMMADIYAH MALANG

Page 2: Ppt Jurnal Autism

PendahuluanPendahuluan

Autism is a complex neurodevelopmental disorder Autism is a complex neurodevelopmental disorder characterized by impaired reciprocal social interaction, characterized by impaired reciprocal social interaction, impaired communication, and restricted, repetitive, or impaired communication, and restricted, repetitive, or stereotyped behaviors.stereotyped behaviors.

There are many controversies and competing theories There are many controversies and competing theories about the etiology and treatment of autism, often leaving about the etiology and treatment of autism, often leaving families confused about the best course of treatment and families confused about the best course of treatment and intervention.intervention.

Pediatric primary health care clinicians have an important Pediatric primary health care clinicians have an important role in both the early identification and ongoing role in both the early identification and ongoing management of children with autism.management of children with autism.

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Definition of autismDefinition of autism First described autism in 1943First described autism in 1943 is a complex neurodevelopmental disorder characterized by is a complex neurodevelopmental disorder characterized by

impaired reciprocal social interaction, impaired impaired reciprocal social interaction, impaired communication, and restricted, repetitive, or stereotyped communication, and restricted, repetitive, or stereotyped behaviors.behaviors.

DSM-IV, TR DSM-IV, TR include autistic disorder in the broader include autistic disorder in the broader category of pervasive developmental disorders, along with category of pervasive developmental disorders, along with pervasive developmental disorders, not otherwise specified pervasive developmental disorders, not otherwise specified (PDD-NOS), Asperger”s disorder, Rett”s disorder, and (PDD-NOS), Asperger”s disorder, Rett”s disorder, and childhood disintegrative disorder.childhood disintegrative disorder.

Autistic disorder, PPD-NOS, and Asperger”s disorder are Autistic disorder, PPD-NOS, and Asperger”s disorder are often collectively referred to as the autism spectrum disorders often collectively referred to as the autism spectrum disorders (ASDs), while the term autism is used interchangeably with (ASDs), while the term autism is used interchangeably with the DSM-IV, TR term aitistic disorder.the DSM-IV, TR term aitistic disorder.

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The diagnostic criteria for autism require the presence of 6 The diagnostic criteria for autism require the presence of 6 symptoms from 3 categories: symptoms from 3 categories: Impaired reciprocal social interaction (at least 2 Impaired reciprocal social interaction (at least 2

symptoms)symptoms) Impaired communicationImpaired communication Restricted, repetitive, or stereotyped behaviors (table 1)Restricted, repetitive, or stereotyped behaviors (table 1)

These criteria reflect the central role of deficits in social These criteria reflect the central role of deficits in social behavior in children with ASDs.behavior in children with ASDs.

One of the earliest and most important indicator of autism is One of the earliest and most important indicator of autism is the failure to develop joint attention, which refers to the the failure to develop joint attention, which refers to the child’s ability to share interests, pleasurable experiences, or child’s ability to share interests, pleasurable experiences, or request by using gestures or verbal communication in request by using gestures or verbal communication in combination with eye contact with another person.combination with eye contact with another person.

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Table 1. Diagnostic Criteria for Autistic Disorder*Table 1. Diagnostic Criteria for Autistic Disorder*A. A total of 6 items from the following criteria 1, 2, A. A total of 6 items from the following criteria 1, 2,

and 3, with at least 2 from criterion 1 and 1 each and 3, with at least 2 from criterion 1 and 1 each from criteria 2 and 3from criteria 2 and 3

1. Qualitative impairment in social interaction as 1. Qualitative impairment in social interaction as manifested by at least 2 of the following:manifested by at least 2 of the following:

a. Marked impairment in the use of multiple nonverbal a. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social body posture, and gestures to regulate social interactioninteraction

b. Failure to develop peer relationships appropriate to b. Failure to develop peer relationships appropriate to developmental leveldevelopmental level

c. Lack of spontaneous seeking to share enjoyment, c. Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (eg, interests, or achievements with other people (eg, lack of showing, bringing, or pointing out objects of lack of showing, bringing, or pointing out objects of interest)interest)

d. Lack of social or emotional reciprocityd. Lack of social or emotional reciprocity

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2. Qualitative impairments in communication as 2. Qualitative impairments in communication as manifested by at least 1 of the following:manifested by at least 1 of the following:

a. Delay in or total lack of development of spoken a. Delay in or total lack of development of spoken language (not accompanied by an attempt to language (not accompanied by an attempt to compensate through alternative modes of compensate through alternative modes of communication such as gesture or mime)communication such as gesture or mime)

b. In individuals with adequate speech, marked b. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a impairment in the ability to initiate or sustain a conversationconversation

c. Stereotyped and repetitive use of language or c. Stereotyped and repetitive use of language or idiosyncratic languageidiosyncratic language

d. Lack of varied, spontaneous make-believe play or d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental social imitative play appropriate to developmental levellevel

Page 7: Ppt Jurnal Autism

3. Restricted, repetitive, and stereotyped patterns of behavior, interests, 3. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities as manifested by at least 1 of the following:and activities as manifested by at least 1 of the following:

a. Encompassing preoccupation with 1 or more stereotyped and restricted a. Encompassing preoccupation with 1 or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focuspatterns of interest that is abnormal either in intensity or focus

b. Apparently inflexible adherence to specific, nonfunctional routines or b. Apparently inflexible adherence to specific, nonfunctional routines or ritualsrituals

c. Stereotyped and repetitive motor mannerisms (eg, hand or finger c. Stereotyped and repetitive motor mannerisms (eg, hand or finger flapping or twisting, or complex whole-body movementsflapping or twisting, or complex whole-body movements

d. Persistent preoccupation with parts of objectsd. Persistent preoccupation with parts of objects

B. Delay or abnormal functioning in at least 1 of the following areas, B. Delay or abnormal functioning in at least 1 of the following areas, with onset before age 3 years:with onset before age 3 years:

1. Social interaction1. Social interaction2. Language as used in social communication2. Language as used in social communication3. Symbolic or imaginative play3. Symbolic or imaginative play

C. Disturbance not better accounted for by Rett’s disorder or childhood C. Disturbance not better accounted for by Rett’s disorder or childhood disintegrative disorderdisintegrative disorder

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EpidemiologyEpidemiology

There is widespread public concern about the apparent There is widespread public concern about the apparent increase in autism, based on prevalence studies during the increase in autism, based on prevalence studies during the last 20 years.last 20 years.

Studies from the 1980s and early 1990s reported a Studies from the 1980s and early 1990s reported a prevalence of 4 to 10 per 10000 children, whereas recent prevalence of 4 to 10 per 10000 children, whereas recent studies have reported prevalence of 30 to 50 per 10000 studies have reported prevalence of 30 to 50 per 10000 children.children.

A recent study in a single US county demonstrated an A recent study in a single US county demonstrated an apparent increase in the incidence of research-identified apparent increase in the incidence of research-identified autism among individuals 21 years of age or younger, from autism among individuals 21 years of age or younger, from 5,5 per 100000 in the 1980-1983 period to 44,9 per 100000 5,5 per 100000 in the 1980-1983 period to 44,9 per 100000 in the 1995-1997 period.in the 1995-1997 period.

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A recent review also noted the absence of A recent review also noted the absence of published literature that demonstrated increased published literature that demonstrated increased rates of autism in children who have been rates of autism in children who have been immunized with vaccines containing thimerosol.immunized with vaccines containing thimerosol.

Astudy from the United kingdom also concluded Astudy from the United kingdom also concluded that the observed increase in the rate of diagnosis that the observed increase in the rate of diagnosis of pervasive development disorder is likely the of pervasive development disorder is likely the result of better case ascertainment rather than a result of better case ascertainment rather than a true increase of autism.true increase of autism.

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How to identification of autism (pediatric How to identification of autism (pediatric primary health care clinicians)primary health care clinicians)

Early identification of autism of importantEarly identification of autism of important Because intervention service may be more effective in Because intervention service may be more effective in

children with autism than in children with other children with autism than in children with other development disabilities.development disabilities.

In children who fail routine developmental screening, In children who fail routine developmental screening, specific screening for autism should be performed (table 2).specific screening for autism should be performed (table 2).

Deficits in joint attention differentiate infants with autism Deficits in joint attention differentiate infants with autism from those with RM or typical development.from those with RM or typical development.

These behaviors include deficits in the following areas:These behaviors include deficits in the following areas: Eye contactEye contact Orientation to name being calledOrientation to name being called Pointing Pointing Showing Showing

Page 11: Ppt Jurnal Autism

In the toddler age group:In the toddler age group: A lack of pretend play and imitationA lack of pretend play and imitation Deficits in nonverbal communicationDeficits in nonverbal communication Disproportionate language delay differentiate autism Disproportionate language delay differentiate autism

from other development disorder.from other development disorder.

Repetitive behaviors, stereotype motor manerism, Repetitive behaviors, stereotype motor manerism, atypical sensory response and behavioral out burst atypical sensory response and behavioral out burst are generally observed in children with autism.are generally observed in children with autism.

These behaviors do not consistently differentiate These behaviors do not consistently differentiate autism from other development disorder at early autism from other development disorder at early ages.ages.

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M-CHAT has been developed as an autism-M-CHAT has been developed as an autism-specific screening tool for use in 24 monthbold specific screening tool for use in 24 monthbold children (table 2).children (table 2).

For children who are 4 years or older, The For children who are 4 years or older, The Social Communication Questionnaire may be Social Communication Questionnaire may be used as an autism screening instrument.used as an autism screening instrument.

Children with autism can also be identified by a Children with autism can also be identified by a characteristic early developmental profile, with characteristic early developmental profile, with relative strengths in visuomotor problem solving relative strengths in visuomotor problem solving and discrepant and disproportion weakness in and discrepant and disproportion weakness in language.language.

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Table 2. Autism-Specific Screening Tools Table 2. Autism-Specific Screening Tools Screening Tool Screening Tool CharacteristicsCharacteristics Checklist for Autism inChecklist for Autism in

Toddlers (CHAT)Toddlers (CHAT) For use in children aged 18 mo; 14 For use in children aged 18 mo; 14 items, 9 derived from parent history items, 9 derived from parent history and 5 from direct and 5 from direct observation; observation; specificity 98%, sensitivity 38%; does specificity 98%, sensitivity 38%; does not discriminate well between children not discriminate well between children with autism and children with mental with autism and children with mental retardationretardation

Social Communication Questionnaire Social Communication Questionnaire (formerly called Autism (formerly called Autism Questionnaire)Questionnaire) For use in children aged 4 yFor use in children aged 4 y

Modified Checklist for AutismModified Checklist for Autismin Toddlers (M-CHAT)in Toddlers (M-CHAT) For use in children aged 24 mo;23 For use in children aged 24 mo;23

items, all based on parental report; items, all based on parental report; specificity 87%, sensitivity 99%; specificity 87%, sensitivity 99%; efficient for use in a primary care efficient for use in a primary care settingsetting

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Diagnosing AutismDiagnosing Autism

A comprehensive, multidisciplinary assesment is A comprehensive, multidisciplinary assesment is required to evaluate a child for an ASD and ASDs required to evaluate a child for an ASD and ASDs from other developmental disorders.from other developmental disorders.

Since there are no definitive diagnostic test, a Since there are no definitive diagnostic test, a clinical diagnosis by an expert, based on DSM-IV, clinical diagnosis by an expert, based on DSM-IV, TR criteria remains the gold standart of ASD TR criteria remains the gold standart of ASD diagnosis.diagnosis.

Children with autism or PDD-NOS often have Children with autism or PDD-NOS often have severe cognitive, communicative, and behavioral severe cognitive, communicative, and behavioral problem that can only be assessed by a team problem that can only be assessed by a team professionals (table 3). professionals (table 3). ,,,

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The clinical diagnosis of an ASD is facilitated by The clinical diagnosis of an ASD is facilitated by the use or rating scales and direct assessment tools the use or rating scales and direct assessment tools specifically developed for this purpose (table 4). specifically developed for this purpose (table 4). ,, Approximately 60% to 75% of children with Approximately 60% to 75% of children with autistic disorder or PDD-NOS have cognitive skills autistic disorder or PDD-NOS have cognitive skills in the mentally retarded range (standart scores < 70 in the mentally retarded range (standart scores < 70 on formal cognitive test).on formal cognitive test).

Formal cognitive assessment should be completed Formal cognitive assessment should be completed using instrument that have been demonstrated to be using instrument that have been demonstrated to be appropriated (table 5).appropriated (table 5).,,,

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Social-adaptive behavioral assessment should Social-adaptive behavioral assessment should included assessment of functional skill such as included assessment of functional skill such as sleeping, eating, and toileting and problem sleeping, eating, and toileting and problem behaviors such as aggression, oppositionality behaviors such as aggression, oppositionality and self injury.and self injury.

Formal assessment of fine and gross motor skills Formal assessment of fine and gross motor skills may be incorporated into the evaluation as may be incorporated into the evaluation as indicated.indicated.

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Medical evaluation in autismMedical evaluation in autism

Although a recognizable etiologic disorder is foud in Although a recognizable etiologic disorder is foud in fewer than 25% of individuals with autism.fewer than 25% of individuals with autism.

A thorough history and physical examination should A thorough history and physical examination should guide the medical diagnostic workup (table 6).guide the medical diagnostic workup (table 6).,,,

Wood’s lamp examinations should be performed in every Wood’s lamp examinations should be performed in every child with autism to detect the hypopiigmented macules child with autism to detect the hypopiigmented macules associated with this syndrome, especially if the child has associated with this syndrome, especially if the child has an intercurrent seizure disorder.an intercurrent seizure disorder.

Head imaging (CT-Scan or MRI) is not recommended.Head imaging (CT-Scan or MRI) is not recommended. Recent studies have reported abnormal pattern of brain Recent studies have reported abnormal pattern of brain

growth in individuals with autism.growth in individuals with autism.

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Autism has been associated with many genetic syndromes, including: Autism has been associated with many genetic syndromes, including: Down syndrome, Angelman syndrome, de Lange syndrome, Smith-Down syndrome, Angelman syndrome, de Lange syndrome, Smith-Magenis syndrome, and Smith-Lemli-Opitz syndrome.Magenis syndrome, and Smith-Lemli-Opitz syndrome.

7% to 8% with autism have fragile X-syndrome.7% to 8% with autism have fragile X-syndrome. Anomalies in almost every chromosome have been reported in Anomalies in almost every chromosome have been reported in

individuals with autism.individuals with autism. Associated chromosome 2q, 7q, and 15q.Associated chromosome 2q, 7q, and 15q. DNA testing for fragile X syndrome and high resolution chromosome DNA testing for fragile X syndrome and high resolution chromosome

analyses are recommended in the laboratory workup in children with analyses are recommended in the laboratory workup in children with autism.autism.

By adulthood with autism will have at least 2 unprovoked epileptic By adulthood with autism will have at least 2 unprovoked epileptic seizure.seizure.

All seizure types including infantile spasm can be associated with All seizure types including infantile spasm can be associated with autism but partial complex seizure with EEG abnormalities occuring autism but partial complex seizure with EEG abnormalities occuring most often over the temporallobes, appear to be most prevalent.most often over the temporallobes, appear to be most prevalent.

Page 19: Ppt Jurnal Autism

Medical intervention for children with autismMedical intervention for children with autism

There are no food and drug administrstion approved There are no food and drug administrstion approved indications for thr treatment of autism with any agent.indications for thr treatment of autism with any agent.

There is no medication available for treatment of the core There is no medication available for treatment of the core deficits in communication and social interaction.deficits in communication and social interaction.

There is an evidance base for prescribing risperidone to There is an evidance base for prescribing risperidone to assist in managing tantrum, aggression and self injurious and assist in managing tantrum, aggression and self injurious and stereotypic behaviors.stereotypic behaviors.

For prescribing methylphenidate to manage inattentive, For prescribing methylphenidate to manage inattentive, impulsive, and hyperactive behaviors in autism.impulsive, and hyperactive behaviors in autism.

Psychotropic medications should never be used in isolation Psychotropic medications should never be used in isolation but used only in conjuction with behavioral, education, and but used only in conjuction with behavioral, education, and habilitative therapies.habilitative therapies.

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Traditional medicine does not offer a cure for autism.Traditional medicine does not offer a cure for autism. Unproved complementary and alternative treatment are often Unproved complementary and alternative treatment are often

provided to children with autism by parents who are seeking provided to children with autism by parents who are seeking effective biomedical intervention.effective biomedical intervention.

Patient with chronic conditions with unclear pathophysiologic Patient with chronic conditions with unclear pathophysiologic features, fluctuating courses, highly subjective symptoms and features, fluctuating courses, highly subjective symptoms and few effective evidance based treatment are most vulnerable to few effective evidance based treatment are most vulnerable to the placebo effect.the placebo effect.

There have been concern about the potential role of MMR There have been concern about the potential role of MMR vaccine in the causation of autism, based on findings that have vaccine in the causation of autism, based on findings that have been partially retracted.been partially retracted.

It has been hypothesized that autism is an autoimune disorder, It has been hypothesized that autism is an autoimune disorder, however treatment with IV imunoglobulin has not proved however treatment with IV imunoglobulin has not proved effective.effective.

Page 21: Ppt Jurnal Autism

The pancreatic hormone secretin has also been proposed The pancreatic hormone secretin has also been proposed as a treatment of autism.as a treatment of autism.

Other medical therapies that have been recommended but Other medical therapies that have been recommended but that do not have sufficient evidance to support their that do not have sufficient evidance to support their effectiveness or safety include vitamins and minerals effectiveness or safety include vitamins and minerals supplement (Vit Bsupplement (Vit B66, Mg, Vit C, Vit B, Mg, Vit C, Vit B1212 and folic acid), and folic acid), AA, peptide supplement and AA, peptide supplement and ωω-3 long chain -3 long chain polyunsaturated fatty acids.polyunsaturated fatty acids.

Families should be informed about potential health risk Families should be informed about potential health risk associated with unproved therapies.associated with unproved therapies.

Parents should be reminded that such treatment may take Parents should be reminded that such treatment may take time, effort, and financial resources away from effective, time, effort, and financial resources away from effective, evidance based interventions.evidance based interventions.

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Family and caregiver supportFamily and caregiver support

Parents need reliable sources of information Parents need reliable sources of information about ASDs.about ASDs.

Internet makes misinformation as easily Internet makes misinformation as easily available as curate information.available as curate information.

Families that include a child with one of the Families that include a child with one of the ASDs experience considerable stress as they are ASDs experience considerable stress as they are confronted with extraordinary demands on their confronted with extraordinary demands on their time, energy and financial resources.time, energy and financial resources.

Page 23: Ppt Jurnal Autism