Referat - Woro Ayu Sekararum - 1910221008 - Autism [PDF]

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R E F E R AT K E PA N I T E R A A N K L I N I K D E PA R T E M E N I L M U K E S E H ATA N A N A K



AUTISM SPECTRUM DISORDER (ASD) W O R O AY U S E K A R A R U M 1910221008 Pembimbing: D r. N e n d e n N u r s y a m s i A g u s t i n a , S p . A



BACKGROUND



“



AUTISM = ‘Self ’



The word autism describe the subjects’ characteristics of living in their own world (Fuentes, 2012)



”



“



AUTISM = ‘Self ’



Signs and symptoms of ASD can be observed as early as 3 years old but less than half of children with ASD are diagnosed under the age of 4 (Baio, 2014)



”



“



AUTISM = ‘Self ’ Recognise the symptoms -> early diagnose -> early treatment (Elvira, 2017)



”



AUTISM SPECTRUM DISORDER



DSM IV



Autism was classified under Pervasive Delevopmental disorder / PDD Comprises of 5 disorders: Autism, Rett’s disorder, Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (APA, 2000)



DSM V



DSM-V has eliminated the distinction in DSM-IV between all 5 disorders above, creating a unique ASD category (APA, 2013)



“



Clinical Manifestation qualitative abnormalities in reciprocal social interaction, idiosyncratic patterns of communication and by a restricted, stereotyped, repetitive repertoire of interests and activities. (APA, 2013)



”



1%



M>F 4



Prevalence of children with ASD



:



1



The risk of having ASD is increased in families with ASD history (CDC, 2019)



1. Genetic Factors 2 . N e u ro b i o l o g i c F a c t o r s



Etiology & Patophysiology



3. Immunologic Factors



(Rubenstein et al., 2003; Saddock, 2014; Augustyn, 2019)



1. Genetic Factors



Etiology & Patophysiology



Fragile X syndrome Chromosome 15 q11- q13 duplication syndrome Deletion or duplication of 16p11 syndrome Angelman syndrome, Rett syndrome dan CHARGE syndrome



(Rubenstein et al., 2003; Saddock, 2014; Augustyn, 2019)



1. Genetic Factors 2 . N e u ro b i o l o g i c F a c t o r s



Etiology & Patophysiology



Impairment of neural connectivity and damaged synaptogenesis In order to create useful neural circuits, the system should remove the non-functional, unnecessary neurons to increase the power of the working ones à Impaired in ASD



(Rubenstein et al., 2003; Saddock, 2014; Augustyn, 2019)



1. Genetic Factors 2 . N e u ro b i o l o g i c F a c t o r s



Etiology & Patophysiology



3. Immunologic Factors Lymphocytes in some autistic children react with maternal antibodies, which increases the likelihood that embryonic nerve tissue can be damaged during gestation.



(Rubenstein et al., 2003; Saddock, 2014; Augustyn, 2019)



Clinical Manifestation 1. qualitative abnormalities in reciprocal social interaction, idiosyncratic patterns of communication



2. Restricted, stereotyped, repetitive repertoire of interests and activities.



Lack of mantaining social interaction Lack of sharing interest or enjoyment Selective attention to certain objects Speech delay



• Fixated to routines • Repetitive movements • Persistently preoccupied with certain objects



• • • •



(APA, 2013)



RED FLAGS



(Fuentes, 2012)



Diagnosing Criteria Diagnosing criteria for F84.0 Autism Spectrum Disorders (ASD) according to DSM-V:



A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 1. Deficits in social–emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.



(APA, 2013)



A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.



(APA, 2013)



A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text): 3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.



(APA, 2013)



B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text): 1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).



(APA, 2013)



B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text): 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal– nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day).



(APA, 2013)



B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text): 3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interest).



(APA, 2013)



B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text): 4. Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).



(APA, 2013)



C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life). D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning. E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level. (APA, 2013)



SCREENING TOOLS Checklist for Autism in Toddlers (CHAT) Modified Checklist for Autism in Toddlers (M-CHAT) Childhood Autism Rating Scale (CARS) Social Responsiveness Scale-Parent and Teacher (SRS)



(Saddock, 2014)



Diagnosis M-CHAT is the most commonly used screening test based on recommendations by the American Academy of Pediatrics for initial screening of ASD, and Robins et al. (2014) reported that the revised M-CHAT plus advanced interview (M-CHAT-R / F) had quite high sensitivity and specificity (85% and 99%).



(Robins, 2014)



(Robins, 2014)



(Robins, 2014)



interpretasi



(Robins, 2014)



ADOS-G Autism Diagnostic Observation Schedule-Generic (ADOS-G). ADOS-G is a semistructural, standardized assessment of social interaction, communication, play, and imaginative use of materials in individuals with suspicion of ASD. It consists of four 30minute modules, each of which is designed to be given to different individuals depending on their expressive language level. (Lord, 2004)



(Lord, 2004)



(Lord, 2004)



TREATMENT Therapy Goals: Improving social interaction and communication Improve strategies for interacting in school Develop a relationship with the environment Enhance the ability of independent living Develop the ability in a social gathering Improve social behavior Reduce the symptoms of the strange behavior (Saddock, 2004)



PSYCHOSOCIAL INTERVENTION



A. Early Intensive Behavioral and Developmental Interventions



1. UCLA / Lovaas-based Model 2. Early Start Denver Model (ESDM) 3 . P a re n t Tr a i n i n g A p p ro a c h



(Saddock, 2004)



B. Social Skills Approach C. Cognitive Behavioral Therapy



D. Comorbid Symptoms



1 . N e u ro f e e d b a c k 2. Insomnia Management (Saddock, 2004)



E. Education Intervention



1 . Tre a t m e n t a n d e d u c a t i o n o f a u t i s t i c a n d c o m m u n i c a t i o n - re l a t e d h a n d i c a p p e d c h i l d re n



(Saddock, 2004)



E. Education Intervention



3 . C o m p u t e r B a s e d A p p ro a c h a n d Vi r t u a l Reality



(Saddock, 2004)



PHARMACOLOGY



Pharmacology



1. Iritability



• Risperidone Dosage: 0.5 – 1.5 mg per day • Dripiprazole and olanzapine Dosage: 5-15 mg per day --> reduction of aggressive behavior and self-harming in children with autism spectrum disorder. (Saddock, 2004)



Pharmacology 2. Hyperactivity, Impulsivity and lack of attention



• Methylphenidate Dosage: 0.25-0.5 mg/kg/dose



(Saddock, 2004)



Pharmacology



3. Complementary medicine and alternative treatment (Efficacy is still questioned)



• Music therapy to increase communication and expression • Yoga to improve attention and lower activity levels. Practices biological is considered safe, among others, melatonin to reduce the latency of sleep onset. • vitamin C, multivitamins, essential fatty acids, and amino acids (Saddock, 2004)



Prognosis. Autism is generally a lifelong disability, with most individuals needing significant family and community support. Although increasing claims for cure are reported, even in the most able individual, some social oddities persist.



(Saddock, 2004)



Prognosis. The first outcome studies were rather pessimistic regarding long-term outcome with perhaps 5 percent of cases achieving independence and self-sufficiency and twothirds or more need high levels of intensive support. Early behavior intervention have demonstrated a positive impact on most patients, and in some cases leads to the healing and function in the average range



(Saddock, 2004)



Prognosis. 49% of adults with autism still living with parents and only around 12% have full time employment. Autistic adults diagnosed as autistic children with IQ above 50 found that:



12% autistic adults achieved a high level of independence as adults 10% had a social life and some employment but required some support 19% had some independence but were living at home 46% needed specialist residential provision 12% needed high-level hospital care.



(Mandal, 2019)



CONCLUSION



Autism Spectrum Disorder (ASD) is one of the types of disorders neurodevelopmental in children that generally appears before the age of 3 years with the characteristics of qualitative disturbance on the interaction and social communication as well as patterns of behavior, activities, and interests that are repetitive, restricted, stereotypical. The patophysiology of ASD is yet to be understood clearly and thoroughly, but has been known to be some of the factors that influence the incidence of ASD, including that genetic factors, neurobiology, environmental and perinatal as well as immunological



The clinical manifestations that appear on the ASD, are qualitative abnormalities in reciprocal social interaction, idiosyncratic patterns of communication and by a restricted, stereotyped, repetitive repertoire of interests and activities. The diagosis of ASD are made according to diagnostic criteria of the DSM-V, with some screening questionnaires Management at ASD aims to improve the social interaction, communication, strategies for interacting in school, develop a relationship with the environment, and enhance the ability of independent living with the approach of psychosocial intervention, phsycopharmacology and alternative approaches



THANK YOU



References. American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders. 4th ed. Text Rev. Washington DC: American Psychiatric Publishing. American Psychiatric Association. 2013. Diagnostic and statistical manual of mental disorders. 5th ed. Washington DC: American Psychiatric Publishing. Augustyn, M. 2019. Autism Spectrum Disorder: Terminology, Epidemiology, and Pathogenesis. [online] Available at: https://www.uptodate.com/contents/autism-spectrum-disorder-terminology-epidemiology-andpathogenesis?search=autism&source=search_result&selectedTitl%E2%80%A6, diakses pada 17 Desember 2019. Baio J, Wiggins L, Christensen DL, et al. 2014. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. MMWR Surveill Summ 2018; 67 (No.SS-6): 1– 23. DOI: http://dx.doi.org/10.15585/mmwr.ss6706a1external icon. CDC. 2019. Autism Spectrum Disorder (ASD). In https://www.cdc.gov/ncbddd/autism/index.html, diakses pada 5 Desember 2019. Elvira, S.D., Hadisukanto, G. 2017. Buku Ajar Psikiatri. Jakarta : Fakultas Kedokteran Universitas Indonesia. Faras H, Ateeqi NA, Tidmarsh L. 2010. Autism spectrum disorders. Ann Saudi Med. Vol 30(4): 295-300. Fuentes J, Bakare M, Munir K, Aguayo P, Gaddour N, Öner Ö, Mercadante M. 2012. Autism spectrum disorders In Rey JM (ed), IACAPAP eTextbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions.



References. Kemenpppa. 2018. Hari Peduli Autisme Sedunia: Kenali Gejalanya, Pahami Keadaannya. [online] Available at: https://www.kemenpppa.go.id/index.php/page/read/31/1682/hari-peduli-autisme-sedunia-kenali-gejalanya-pahamikeadaannya, diakses pada 6 Desember 2019. Lord C, Risi S, Lambrecht L, Cook,Jr EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The autism diagnostic observation schedulegeneric: a standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders. Vol 30(3). Mandal, Ananya. 2019. Autism Prognosis. News-Medical, viewed 25 December 2019, https://www.news-medical.net/health/AutismPrognosis.aspx. Rescorla LA, Winder-Patel BM, Paterson SJ, Pandey J, Wolff JJ, Schultz RT, Piven J. 2017. Autism Spectrum Disorder Screening With The CBCL/1½–5: Findings For Young Children At High Risk For Autism Spectrum Disorder. Autism (Journal). Sept 20; 00 (0). Robins D, Fein D, Barton M. 2014. Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F). USA. Rubenstein, J. and Merzenich, M. 2003. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes, Brain and Behavior, 2(5), pp.255-267. Saddock BJ, Saddock VA, Ruiz P. 2014. Kaplan and Saddock’s synopsis of psychiatry: behavorial sciences/clinical psychiatry. 11th ed. Philadelphia: Lippincott Williams and Wilkins. Yenkoyan, K., Grigoryan, A., Fereshetyan, K. and Yepremyan, D. 2017. Advances in understanding the pathophysiology of autism spectrum disorders. Behavioural Brain Research, 331, pp.92-101.