1. PRESENTER AFIDAH ABDULLAH DL1419224 ANIS EMYSHARIDA OTHMAN DL 1413640 2. introduction 3. Pervasive developmental disorders 4. DIAGNOSIS OF AUTISM 5. Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities B. Delay or abnormal functioning in at least 1 of the following areas, with onset < age 3 yr: (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 disorder or childhood disintegrative disorder 6. Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities B. Delay or abnormal functioning in at least 1 of the following areas, with onset < age 3 yr: (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 disorder or childhood disintegrative disorder a. Marked impairment in 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 c. 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 7. Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities B. Delay or abnormal functioning in at least 1 of the following areas, with onset < age 3 yr: (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 disorder or childhood disintegrative disorder a. Delay in, or total lack of, development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication, such as gesture or mime) b. In individuals with adequate speech, marked impairment in ability to initiate or sustain a conversation with others c. Stereotyped & repetitive use of language or idiosyncratic language d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level 8. a. Encompassing preoccupation with 1 stereotyped and restricted pattern of interest that is abnormal in either intensity or focus b. Apparently inflexible adherence to specific, nonfunctional routines or rituals 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 Diagnostic Criteria for Autism: A. A total of 6 (or more) items from (1),(2), and (3), with at least 2 from (1) and 1 each from (2) and (3): (1). Qualitative impairment in social interaction, (2). Qualitative impairments in communication, (3). Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities 9. Autistic Disorder CLINICAL FEATURES. Neurodevelopmental disorder. Clinical presentation varies with severity of impairment. Despite the variability in the clinical pattern, all children with autism manifest : -Some degree of impairment in areas of -Reciprocal social interaction, -Communication, -Restrictive and repetitive stereotypical patterns of -Behavior, -Interests, or -Activities. 10. Autistic Disorder CLINICAL FEATURES. Although no pathognomonic symptom or behavior is seen in all children with autism, most children have some impairment in joint attention or pretend play. Joint attention is the ability to use eye contact & pointing for the purposes of sharing experiences with others . (Develops by 18 mo) 11. Autistic Disorder CLINICAL FEATURES. Other precursor skills to joint attention that are often absent in children with autism are Protoimperative pointing Pointing to obtain an object of desire and Protodeclarative pointing Pointing to an object of interest ,simply to have another person share in the interest with him or her). 12. Autistic Disorder CLINICAL FEATURES. Some children with autism Make no eye contact and Show intermittent engagement seem totally aloof. with their environment : May make inconsistent eye contact, smile, and hug. 13. Autistic Disorder CLINICAL FEATURES. Varying verbal abilities Nonverbal Have advanced speech, imitate songs, rhymes. -Most notable is the quality of speech and language. -Speech may have an odd intonation. -May be characterized by echolalia, pronoun reversal, nonsense rhyming, other idiosyncratic language forms. 14. Autistic Disorder CLINICAL FEATURES. Intellectual functioning Mental retardation -Superior intellectual functioning in select areas. -Some show development in certain skills. -May even show areas of strength in specific areas. Eg: puzzles,art,music. 15. Autistic Disorder CLINICAL FEATURES. Play skills are typically aberrant. Characterized by little symbolic play, ritualistic rigidity, and preoccupation with parts of objects. Stereotypical body movements, a marked need for sameness, and a very narrow range of interests. Often withdrawn . Spends hours in solitary play. Ritualistic behavior prevails, reflecting the child's need to maintain a consistent, predictable environment. 16. Autistic Disorder CLINICAL FEATURES. Disruptions of routine Tantrum-like rages. Eye contact is minimal or absent. Sensitivity to stimuli Heightened sensitivity Lowered sensitivity to some stimuli to other stimuli. (Visual scanning of hand and (Diminished responses to pain finger movements, and lack of startle responses mouthing of objects, to sudden loud noises) and rubbing of surfaces) 17. Autistic Disorder NEUROANATOMIC FINDINGS. Retrospective analysis of Head circumference & MRI studies, have shown differences in brain structure in autism. Abnormal neurochemical findings also associated; Dopamine, catecholamine, and serotonin levels or pathways implicated. Head circumference in Autistic children: AT BIRTH, UPTO 2 MONTHS AGE: Normal or slightly smaller than normal. FROM 6-14 MONTHS, UPTO END OF 2ND YEAR: Abnormally rapid increase in head circumference. 18. Autistic Disorder NEUROANATOMIC FINDINGS. MRI studies in autistic children: At 24 yr of age: Increased brain volume (increased volume of cerebellum, cerebrum, and amygdala.) Abnormal growth in first 2 yr is most marked in frontal, temporal, cerebellar, and limbic regions of the brain, the areas of brain responsible for higher-order cognitive, language, emotional, and social functions, which are most impaired in autism. This period of early, accelerated brain growth stops early in childhood and is followed by abnormally slow or arrested growth Areas of underdeveloped & abnormal circuitry in parts of brain. 19. Autistic Disorder DIAGNOSIS. Hallmark of Autistic Spectrum Disorders: Aberrant social skill development. Early social skill deficits: -Abnormal eye contact, -Failure to orient to name, -Lack of interactive play, -Lack of sharing, -Failure to smile, -Lack of interest in other children -Failure to use gestures to point or show Combined language and social delays and regression in language or social milestones are important early red flags for ASD. 20. Autistic Disorder DIAGNOSIS. Early signs : Unusual use of language or loss of language skills, Nonfunctional rituals, Inability to adapt to new settings, Lack of imitation, and Absence of imaginary play. Absence of expected social, communication & play behaviors precedes Emergence of odd or stereotypical behaviors or unusual language. 21. SCREENING OF AUTISM 22. Autistic Disorder Screening Autism varies widely in its severity and sysmptoms and may go unrecognized ( in mildly affected children or when it is masked by more debilitating handicaps ) Doctors rely on a core group of behaviors to alert them to the possibility of a diagnosis of autism. Doctors will often use a questionnaire or other screening instrument to gather information about a childs development and behavior. Some screening instrument rely solely on parent observations ( combination of parent and doctor observations ) Doctors will ask for more comprehensive evaluation if screening instrument indicate the possibility of autism 23. Autistic Disorder Screening Comprehensive evaluation requires a multidisciplinary team including a psychologist, neurologist, psychiatrist, speech therapist and other professionals who diagnosis children with ASDs The team members will conduct a thorough neurological assessment and in-depth cognitive and language testing. Because hearing problems can cause behaviors that could be mistaken for autism, children with delayed speech development should also have their hearing tested After a thorough evaluation, the teams usually meets with parents to explain the results of the evaluation and present the diagnosis 24. Autistic Disorder DIAGNOSIS: Screening tools for early detection. Checklist for Autism in Toddlers (CHAT): Screening tool for 18 mo old children in primary care settings. CHAT combines parent responses + direct observation in Clinic. High positive predictive value, but low sensitivity. Modified Checklist for Autism in Toddlers (M-CHAT): 23-item parent questionnaire. Good sensitivity and specificity (0.87% and 0.99%, respectively). 25. Autistic Disorder DIAGNOSIS: Screening tools for early detection. Pervasive Developmental Disorders Screening Test (PDDST): Parent-completed survey for children from birth3 yr of age. Incorporates 3-tiered approach: -1 for the primary care clinic, -1 for the developmental clinic, and -1 for the multidisciplinary autism clinic. All 3 tiers measure aspects of language, social skills, pretend play, attachment, sensory responses, and motor stereotypies. 26. Autistic Disorder DIAGNOSIS. Intelligence, as measured by conventional psychologic testing, falls in the functionally retarded range; Deficits in language and socialization make it difficult to obtain an accurate estimate of intellectual potential. Some autistic children perform adequately in nonverbal tests. Those with developed speech may show adequate intellectual capacity. 27. Autistic Disorder DIAGNOSIS. Lack of a theory of mind. Autistic children show deficits in understanding what the other person might be feeling or thinking: Lack of central coherence On some psychologic tests, they pay more attention to specific details, while overlooking the entire gestalt of the object. 28. Autistic Disorder DIAGNOSIS. Physical examination. Head circumference. 25% of ASD have macrocephaly, but may not be apparent until after 2nd yrs age. In the absence of dysmorphic features or focal neurologic signs, additional neuroimaging for investigation of the macrocephaly is not indicated. Audiologic evaluation; Speech and language evaluation; 29. Autistic Disorder DIAGNOSIS. Look for other physical stigmata. Examination of skin with a Wood lamp for hypopigmented lesions of Tuberous sclerosis. Look for dysmorphic features of -Fragile X syndrome (long face, large ears, large testes) -Angelman syndrome (ataxic gait, broad mouth) 30. Autistic Disorder DIAGNOSIS. Check Lead level if child shows pica etc. Chromosomal analysis if child has mental retardation / dysmorphic features; EEG in developmental regression or seizures.