Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders. J Autism DeD. Disord 39(9):1305-20 uyster,R; Richler, J-i; Risi, S. Hsu, WL, Dawson, G. Bernier, R; Dunn, M. Hepburn, S. Hyman, SL. McMahon, WM. Goudie-Nice, J- Minshew, N. Rogers, S. Sigman M Spence, MA. Goldberg, WA. Tager-Flusberg, H. Volkmar, FR. lord, C (2005). Early regression in social communication in autism spectrum disorders: a CPEA Study. Dev Neuropsychol. 27 (3): 311-36 Martinez-Pedraza, FL. Carter, AS.(2009). Autism spectrum disorders in young children Child Adolesc Psychiatr Clin. N. An. 18(3): 645-63 Mazefsky, CA. Oswald, DP(2006). The discriminative ability and diagnostic utility of the ADOS-G, ADI-R, and GARs for children in a clinical setting. Autism 10(6):533-49 McDonough, L, Stahmer, A Schreibman, L. Thompson, S].(1997). Deficits, delays, and distractions: an evaluation of symbolic play and memory in children with autism Dev. Psychopathol 9(1): 17-41 Moore, V.& Goodson, S(2003). How well does early diagnosis of autism stand the test of time? Follow-up study of children assessed for autism at age 2 and development of an early diagnostic service. Autism 7(1): 47-63 Osterling, J. Dawson, G.(1994). Early recognition of children with autism: a study of first birthday home videotapes. J Autism Dev. Disord. 24(3): 247-57 Rapin, l. Tuchman, RF(2008). Autism: definition, neurobiology, screening, diagnosis Pediatr. Clin North Ant. 55(5): 1129-46,viii Richler, J- Luyster, R; Risi, S. Hsu, WL. Dawson, G. Bernier, R; Dunn, M. Hepburn, S, Hyman, SL McMahon, WM Goudie-Nice, J. Minshew, N Rogers, S. Sigman, M; Spence, MA. Goldberg, WA. Tager-Flusberg H. Volkmar, FR. Lord, C.(2006). Is there a 'regressive phenotype of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA Study. J Autism Dev Disord. 36(3: 299-316 Risi, S; Lord, C. Gotham, K. Corsello, C Chrysler, C. Szatmari, P. Cook, EH Jr Leventhal, BL. Pickles, A.(2006). Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am. Acad. Child Adolesc. Psychiatr 45(9):1094-103 Robins, DL; Fein, D. Barton, ML. Green, JA.(2001). The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive Rutter developmental disorders. J Autisnm Dev Disord. 31(2): 131-44 M.(2006). Autism: its recognition, early diagnosis, and service implications. J Dev Belau Pediatr. 27 (2 Suppl): $$58 Rutter, M Moffitt, TE. Caspi, A.(2006). Gene-environment interplay and psychopathology: multiple varieties but real effects. Child Psychol. Psychiatry 47(3-4): 226-61 antosh, PJ Mandy, WP. Puura, K Kaartinen, M. Warrington, R. Skuse, DH. (2009). The construction and validation of a short form of the developmental, diagnostic and dimensional interview. Eur. Child Adolesc. Psychiatry 18(8): 521-4
12 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment Observation Schedule-toddler module: a new module of a standardized diagnostic measure for autism spectrum disorders. J Autism Dev. Disord. 39(9):1305-20 Luyster, R.; Richler, J.; Risi, S.; Hsu, WL.; Dawson, G.; Bernier, R.; Dunn, M.; Hepburn, S.; Hyman, SL.; McMahon, WM.; Goudie-Nice, J.; Minshew, N.; Rogers, S.; Sigman, M.; Spence, MA.; Goldberg, WA.; Tager-Flusberg, H.; Volkmar, FR. & Lord, C. (2005). Early regression in social communication in autism spectrum disorders: a CPEA Study. Dev. Neuropsychol. 27(3):311-36 Martinez-Pedraza, FL. & Carter, AS. (2009). Autism spectrum disorders in young children. Child Adolesc. Psychiatr Clin. N. Am. 18(3):645-63 Mazefsky, CA. & Oswald, DP. (2006). The discriminative ability and diagnostic utility of the ADOS-G, ADI-R, and GARS for children in a clinical setting. Autism 10(6):533-49 McDonough, L.; Stahmer, A.; Schreibman, L. & Thompson, SJ. (1997). Deficits, delays, and distractions: an evaluation of symbolic play and memory in children with autism. Dev. Psychopathol. 9(1):17-41 Moore, V. & Goodson, S. (2003). How well does early diagnosis of autism stand the test of time? Follow-up study of children assessed for autism at age 2 and development of an early diagnostic service. Autism 7(1):47-63 Osterling, J. & Dawson, G. (1994). Early recognition of children with autism: a study of first birthday home videotapes. J Autism Dev. Disord. 24(3):247-57 Rapin, I. & Tuchman, RF. (2008). Autism: definition, neurobiology, screening, diagnosis. Pediatr. Clin. North Am. 55(5):1129-46, viii Richler, J.; Luyster, R.; Risi, S.; Hsu, WL.; Dawson, G.; Bernier, R.; Dunn, M.; Hepburn, S.; Hyman, SL.; McMahon, WM.; Goudie-Nice, J.; Minshew, N.; Rogers, S.; Sigman, M.; Spence, MA.; Goldberg, WA.; Tager-Flusberg, H.; Volkmar, FR. & Lord, C. (2006). Is there a 'regressive phenotype' of Autism Spectrum Disorder associated with the measles-mumps-rubella vaccine? A CPEA Study. J Autism Dev. Disord. 36(3):299-316 Risi, S.; Lord, C.; Gotham, K.; Corsello, C.; Chrysler, C.; Szatmari, P.; Cook, EH Jr.; Leventhal, BL. & Pickles, A. (2006). Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am. Acad. Child Adolesc. Psychiatry 45(9):1094-103 Robins, DL.; Fein, D.; Barton, ML. & Green, JA. (2001). The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. J Autism Dev. Disord. 31(2):131-44 Rutter, M. (2006). Autism: its recognition, early diagnosis, and service implications. J Dev. Behav. Pediatr. 27(2 Suppl):S54-S58 Rutter, M.; Moffitt, TE. & Caspi, A. (2006). Gene-environment interplay and psychopathology: multiple varieties but real effects. J Child Psychol. Psychiatry 47(3-4):226-61 Santosh, PJ.; Mandy, WP.; Puura, K.; Kaartinen, M.; Warrington, R. & Skuse, DH. (2009). The construction and validation of a short form of the developmental, diagnostic and dimensional interview. Eur. Child Adolesc. Psychiatry 18(8):521-4
Early Detection of Autism Spectrum Dis Scambler, D. Rogers, S]. Wehner, EA(2001). Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays? J Al. Acad. Child Adolesc. Psychiatry 40(12): 1457- Siegel, B.(2004). Pervasive developmental disorders screening test-if (pddst-ii). San Antonio Harcourt Sigman, M. Ruskin, E. Arbeile, S; Corona, R; Dissanayake, C; Espinosa, M. Kim, N of hildren with autism, Down syndrome, and developmental delays. Monogr Soc. Res Child dev.64(1):1-114 The developmentayOp, D; Chowdhury, U. Lau, J; Mandy,W&Place,M dimensional and diagnostic interview (3di) computerized assessment for autism spectrum disorders. J Am. Aaad Child Stone, WL. Coonrod, EE. &z Ousley, OY.(2000). Brief report: screening tool for autism in two-year-olds(STAT): development and preliminary data. J Autism Dev. Disord 06):607-12 Stone, WL; Lee, EB. Ashford, L; Brissie, J; Hepburn, SL. Coonrod, EE. Weiss (1999). Can autism be diagnosed accurately in children under 3 years? J Psychol. Psychiatry 40(2): 219-26 Stone, WL; Lemanek, KL Fishel, PT Fernandez, MC. Altemeier, WA.(1990). Play and imitation skills in the diagnosis of autism in young children. Pediatrics 86(2): 267-72 Stone, WL. McMahon, CR. Henderson, LM. (2008). Use of the Screening Tool for Autism in Two-Year-Olds(STAT) for children under 24 months: an exploratory study Autism12(5):55773 Szatmari, P.(1999). Heterogeneity and the genetics of autism. J. Psychiatry Neurosci 24(2:15965 autism spectrum disorders from age 2 to age 9. Autism 10(3): 243-65children with Turner, LM. Stone, WL. Pozdol, SL. Coonrod, EE.(2006). Follow-up of Turner, M.(1999). Annotation: Repetitive behaviour in autism: a review of psychologica research. Child Psychol. Psychiatry 40(6): 839-49 Volkmar, F; Chawarska, K& Klin, A(2005). Autism in infancy and early childhood.Anmie Rev. Psychol. 56: 315-36 Werner, E& Dawson, G.(2005). Validation of the phenomenon of autistic regression using home videotapes. Arch Gen. Psychiatry 62(8): 889-95 Wetherby, AM; Prizant, BM. Schuler, AL.(2000). Understanding the nature of communication and language impairments. In Autistic Spectrum Disorders: A developmental transactional perspective, ed. Wetherby AM, Prizant BM,109-141 pp Baltimore: Paul H. Brookes. 109-141 pp World Health Organization(WHO).(1992). The ICD-10 Classification of Mental and Beltavionral disorders. Geneva: WHO Young, RL Brewer, N.& Pattison, C(2003). Parental identification of early behavioural abnormalities in children with autistic disorder. Autism 7(2): 125-43
Early Detection of Autism Spectrum Disorders 13 Scambler, D.; Rogers, SJ. & Wehner, EA. (2001). Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays? J Am. Acad. Child Adolesc. Psychiatry 40(12):1457-63 Siegel, B. (2004). Pervasive developmental disorders screening test-ii (pddst-ii). San Antonio: Harcourt. Sigman, M.; Ruskin, E.; Arbeile, S.; Corona, R.; Dissanayake, C.; Espinosa, M.; Kim, N.; Lopez, A. & Zierhut, C. (1999). Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays. Monogr Soc. Res. Child Dev. 64(1):1-114 Skuse, D.; Warrington, R.; Bishop, D.; Chowdhury, U.; Lau, J.; Mandy, W. & Place, M. (2004). The developmental, dimensional and diagnostic interview (3di): a novel computerized assessment for autism spectrum disorders. J Am. Acad. Child Adolesc. Psychiatry 43(5):548-58 Stone, WL.; Coonrod, EE. & Ousley, OY. (2000). Brief report: screening tool for autism in two-year-olds (STAT): development and preliminary data. J Autism Dev. Disord. 30(6):607-12 Stone, WL.; Lee, EB.; Ashford, L.; Brissie, J.; Hepburn, SL.; Coonrod, EE. & Weiss, BH. (1999). Can autism be diagnosed accurately in children under 3 years? J Child Psychol. Psychiatry 40(2):219-26 Stone, WL.; Lemanek, KL.; Fishel, PT.; Fernandez, MC. & Altemeier, WA. (1990). Play and imitation skills in the diagnosis of autism in young children. Pediatrics 86(2):267-72 Stone, WL.; McMahon, CR. & Henderson, LM. (2008). Use of the Screening Tool for Autism in Two-Year-Olds (STAT) for children under 24 months: an exploratory study. Autism 12(5):557-73 Szatmari, P. (1999). Heterogeneity and the genetics of autism. J. Psychiatry Neurosci. 24(2):159-65 Turner, LM.; Stone, WL.; Pozdol, SL. & Coonrod, EE. (2006). Follow-up of children with autism spectrum disorders from age 2 to age 9. Autism 10(3):243-65 Turner, M. (1999). Annotation: Repetitive behaviour in autism: a review of psychological research. J Child Psychol. Psychiatry 40(6):839-49 Volkmar, F.; Chawarska, K. & Klin, A. (2005). Autism in infancy and early childhood. Annu. Rev. Psychol. 56:315-36 Werner, E. & Dawson, G. (2005). Validation of the phenomenon of autistic regression using home videotapes. Arch. Gen. Psychiatry 62(8):889-95 Wetherby, AM.; Prizant, BM. & Schuler, AL. (2000). Understanding the nature of communication and language impairments. In Autistic Spectrum Disorders: A developmental transactional perspective, ed. Wetherby AM, Prizant BM,109-141 pp. Baltimore: Paul H. Brookes. 109-141 pp. World Health Organization (WHO). (1992). The ICD-10 Classification of Mental and Behavioural Disorders. Geneva: WHO. Young, RL.; Brewer, N. & Pattison, C. (2003). Parental identification of early behavioural abnormalities in children with autistic disorder. Autism 7(2):125-43
14 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment Zwaigenbaum, L. Bryson, S; Rogers, T, Roberts, W, Brian, J. Szatmari, P. Behavioral manifestations of autism in the first year of life. Int. Dev. Neun 3:143-52
14 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment Zwaigenbaum, L.; Bryson, S.; Rogers, T.; Roberts, W.; Brian, J. & Szatmari, P. (2005). Behavioral manifestations of autism in the first year of life. Int. J Dev. Neurosci. 23(2- 3):143-52
Part 2 Nosology and Diagnostic Criteria What Makes Sense and Can Genetics Help?
Part 2 Nosology and Diagnostic Criteria: What Makes Sense and Can Genetics Help?
2 Pervasive Developmental Disorder-not otherwise Specified Specifying and Differentiating Koray Karabekiroglu Ondokuz Mayis university 1 Introduction Pervasive Developmental Disorders(PDD), also called Autism Spectrum Disorders(ASD), are defined in terms of abnormalities in social and communication development in the presence of marked repetitive behaviour and narrow interests(APA, 1994). The DSM-IV (APA, 1994)and ICD-10(WHO, 1993) provide diagnostic criteria for autism and related disorders such as Asperger syndrome(AS), Rett,s, and childhood disintegrative disorder Unfortunately, the diagnostic category of pervasive development disorder-not otherwise ecified(PDD-NOS)does not have specific criteria and is often seen as a catchall diagnosis for children who do not fit the criteria for one of the other pervasive developmental disorders(Filipek et al., 1999) According to Cohen Volkmar(2005) classification systems should aim at improving communication, through their features(internal consistency, use easiness, good definition of categories)and being widely accepted. The accuracy of early diagnosis, as well as developmental pathways that are observed in young children with ASD have both theoretical and practical importance( Luyster et al., 2005). An empirically developed dimensional approach that defines the spectrum on multiple dimensions may offer several advantages. It may, for example, result in more correspondence between the results of genetic research and the phenotype of autistic disorders, provided the pathology can be ummarized by empirical and valid behavior dimensions(volkmar et al, 2004; van Lang et al., 2006; Hus et al., 2007) It is now well recogn that children with PDD vary in the number and severity of symptoms(Szatmari et al., 2002). In DSM-IV, a diagnostic category within PDD, which called"pervasive developmental disorder-not otherwise specified"(PDD-NOS), defines children with symptoms such as restricted social interaction, poor verbal and non-verbal communication skills, strict and/or stereoty pical behaviors but without full diagnostic criteria of autism(APA, 1994). Epidemiological data suggest that PDD-NOS is at least twice on as autism in the general community( Chakrabatri Fombonne, 2001). One or more of the following conditions may lead to a PDD-NOS diagnosis(1)onset of the disorder after 3 years of age,(2 )atypical symptoms with regard to the 12 criteria of autism specified in DSM-IV,3)fewer than 6 criteria and thus subtreshold (Walker et al, 2004). A categorical system like DSM-IV can be very useful for diagnosing prototypic manifestations of disorder, but it is less useful in encompassing what may be, in its broader manifestations
2 Pervasive Developmental Disorder- not Otherwise Specified: Specifying and Differentiating Koray Karabekiroglu Ondokuz Mayis University Turkey 1. Introduction Pervasive Developmental Disorders (PDD), also called Autism Spectrum Disorders (ASD), are defined in terms of abnormalities in social and communication development in the presence of marked repetitive behaviour and narrow interests (APA, 1994). The DSM-IV (APA, 1994) and ICD-10 (WHO, 1993) provide diagnostic criteria for autism and related disorders such as Asperger syndrome (AS), Rett’s, and childhood disintegrative disorder. Unfortunately, the diagnostic category of pervasive development disorder-not otherwise specified (PDD-NOS) does not have specific criteria and is often seen as a catchall diagnosis for children who do not fit the criteria for one of the other pervasive developmental disorders (Filipek et al., 1999). According to Cohen & Volkmar (2005) classification systems should aim at improving communication, through their features (internal consistency, use easiness, good definition of categories) and being widely accepted. The accuracy of early diagnosis, as well as developmental pathways that are observed in young children with ASD have both theoretical and practical importance (Luyster et al., 2005). An empirically developed dimensional approach that defines the spectrum on multiple dimensions may offer several advantages. It may, for example, result in more correspondence between the results of genetic research and the phenotype of autistic disorders, provided the pathology can be summarized by empirical and valid behavior dimensions (Volkmar et al., 2004; van Lang et al., 2006; Hus et al., 2007). It is now well recognized that children with PDD vary in the number and severity of symptoms (Szatmari et al., 2002). In DSM-IV, a diagnostic category within PDD, which is called “pervasive developmental disorder-not otherwise specified” (PDD-NOS), defines children with symptoms such as restricted social interaction, poor verbal and non-verbal communication skills, strict and/or stereotypical behaviors but without full diagnostic criteria of autism (APA, 1994). Epidemiological data suggest that PDD-NOS is at least twice as common as autism in the general community (Chakrabatri & Fombonne, 2001). One or more of the following conditions may lead to a PDD-NOS diagnosis (1) onset of the disorder after 3 years of age, (2) atypical symptoms with regard to the 12 criteria of autism specified in DSM-IV, (3) fewer than 6 criteria and thus subtreshold (Walker et al., 2004). A categorical system like DSM-IV can be very useful for diagnosing prototypic manifestations of a disorder, but it is less useful in encompassing what may be, in its broader manifestations, a