Publication of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5) in May 2013 will mark one the most anticipated events in the mental health field. As part of the development process, the preliminary draft revisions to the current diagnostic criteria for psychiatric diagnoses are now available for public review. We thank you for your interest in DSM-5 and hope that you use this opportunity not only to learn more about the proposed changes in DSM-5, but also about its history, its impact, and its developers. Please continue to check this site for updates to criteria and for more information about the development process.

Proposed revisions

Autism Spectrum Disorder

Must meet criteria 1, 2, and 3:

Clinically significant, persistent deficits in social communication and interactions, as manifest by all of the following:

• Marked deficits in nonverbal and verbal communication used for social interaction:
• Lack of social reciprocity;
• Failure to develop and maintain peer relationships appropriate to developmental level

Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following:

• Stereotyped motor or verbal behaviors, or unusual sensory behaviors
• Excessive adherence to routines and ritualized patterns of behavior
• Restricted, fixated interests

Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities)

Rationale
New name for category, autism spectrum disorder, which includes autistic disorder (autism), Asperger's disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified.

• Differentiation of autism spectrum disorder from typical development and other "nonspectrum" disorders is done reliably and with validity; while distinctions among disorders have been found to be inconsistent over time, variable across sites and often associated with severity, language level or intelligence rather than features of the disorder.
• Because autism is defined by a common set of behaviors, it is best represented as a single diagnostic category that is adapted to the individual's clinical presentation by inclusion of clinical specifiers (e.g., severity, verbal abilities and others) and associated features (e.g., known genetic disorders, epilepsy, intellectual disability and others.) A single spectrum disorder is a better reflection of the state of knowledge about pathology and clinical presentation; previously, the criteria were equivalent to trying to "cleave meatloaf at the joints".

Three domains become two:

• Social/communication deficits
• Fixated interests and repetitive behaviors
• Deficits in communication and social behaviors are inseparable and more accurately considered as a single set of symptoms with contextual and environmental specificities
• Delays in language are not unique nor universal in ASD and are more accurately considered as a factor that influences the clinical symptoms of ASD, rather than defining the ASD diagnosis
• Requiring both criteria to be completely fulfilled improves specificity of diagnosis without impairing sensitivity
• Providing examples for subdomains for a range of chronological ages and language levels increases sensitivity across severity levels from mild to more severe, while maintaining specificity with just two domains
• Decision based on literature review, expert consultations, and workgroup discussions; confirmed by the results of secondary analyses of data from CPEA and STAART, University of Michigan, Simons Simplex Collection databases

Several social/communication criteria were merged and streamlined to clarify diagnostic requirements.

• In DSM-IV, multiple criteria assess same symptom and therefore carry excessive weight in making diagnosis
• Merging social and communication domains requires new approach to criteria
• Secondary data analyses were conducted on social/communication symptoms to determine most sensitive and specific clusters of symptoms and criteria descriptions for a range of ages and language levels

Requiring two symptom manifestations for repetitive behavior and fixated interests improves specificity of the criterion without significant decrements in sensitivity. The necessity for multiple sources of information including skilled clinical observation and reports from parents/caregivers/teachers is highlighted by the need to meet a higher proportion of criteria.

The presence, via clinical observation and caregiver report, of a history of fixated interests, routines or rituals and repetitive behaviors considerably increases the stability of autism spectrum diagnoses over time and the differentiation between ASD and other disorders.

Reorganization of subdomains increases clarity and continues to provide adequate sensitivity while improving specificity through provision of examples from different age ranges and language levels.

Unusual sensory behaviors are explicitly included within a sudomain of stereotyped motor and verbal behaviors, expanding the specfication of different behaviors that can be coded within this domain, with examples particularly relevant for younger children

Autism spectrum disorder is a neurodevelopmental disorder and must be present from infancy or early childhood, but may not be detected until later because of minimal social demands and support from parents or caregivers in early years.

Severity

Recommendations for severity criteria for this disorder are forthcoming. We encourage you to check our Web site regularly for updates.

DSM-IV

Autistic Disorder

• A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):
  • qualitative impairment in social interaction, as manifested by at least two of the following:
    • 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
    • failure to develop peer relationships appropriate to developmental level
    • 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)
    • lack of social or emotional reciprocity
  • qualitative impairments in communication as manifested by at least one of the following:
    • 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 gesture or mime)
    • in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
    • stereotyped and repetitive use of language or idiosyncratic language
    • lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
  • restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
    • encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
    • apparently inflexible adherence to specific, nonfunctional routines or rituals
    • stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole body movements)
    • persistent preoccupation with parts of objects
• 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.
• The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=97#

299.80
Asperger's Disorder

Proposed Revision:
The work group is proposing that this disorder be subsumed into an existing disorder: Autistic Disorder (Autism Spectrum Disorder).

Please see the rationale section for Autistic Disorder (Autism Spectrum Disorder) for more details.

In making the recommendation to delete Asperger's disorder, the following questions were considered:

Q.1. Have the DSM-IV diagnostic criteria for Asperger Disorder worked?
The 'Asperger' label has proved popular, 'acceptable', and has widened recognition of autism spectrum disorder (ASD) in combination with good language and intelligence. In addition, the introduction of this diagnostic entity has achieved the intended aim of prompting research into possible differences between this and other subgroups of PDD, with more than 500 published articles on Asperger syndrome.

1.1. Do the DSM-IV criteria work in clinical practice?
A number of published papers have argued that the DSM-IV Asperger disorder criteria do not work in the clinic (e.g., Mayes et al., 2001; Miller & Ozonoff, 2000; Leekam, Libby, Wing, Gould & Gillberg, 2000). Specifically, key problems exist in applying the current criteria:

• Early language details are hard to establish in retrospect, especially for older children and adults; average age of first diagnosis is late (7 years according to Mandell et al. 2005; 11yrs, Howlin & Asgharian, 1999).
• The trumping rule means most/all Asperger cases should strictly be diagnosed as having 'Autistic disorder' (Miller & Ozonoff, 2000; Bennett et al, 2008; Williams et al, 2008), although clinicians prefer to give the more specific term (Mahoney, et al.,1998)
  • Specifically, since language delay is not a necessary criterion for Autistic disorder, to meet criteria for Asperger disorder (without being trumped by Autistic disorder), a person would need to fail to meet Communication criteria for Autistic disorder. In practice, the Communication criterion (B.2.) of "marked impairment in the ability to initiate or sustain a conversation with others" is typically met by even very able individuals fitting the Asperger picture.

As a result, 'Asperger syndrome' is used loosely with little agreement: e.g. Williams et al (2008) survey of 466 professionals reporting on 348 relevant cases, showed 44% of children given Asperger, PDD-NOS, atypical autism, or 'other ASD' label actually fulfilled criteria for Autistic Disorder (overall agreement between clinician's label and DSM-IV criteria; Kappa 0.31).

1.2. Do the DSM-IV criteria delineate a meaningful subgroup for research or practice?

In part because of the difficulty in applying the criteria (as outlined in section 1.1.), different research groups often uses different criteria, and quality of early language milestone information is variable (Eisenmajer et al., 1996; Klin et al., 2005; Woodbury-Smith, Klin, & Volkmar, 2005). Different criteria lead to different samples being identified (see Klin et al, 2005 comparison of 3 diagnostic approaches; also Kopra et al., 2008; Woodbury-Smith et al., 2005).

• Research suggests early language criteria do not demarcate a distinct subgroup with different:
  • Course/outcome: Children with autism who develop fluent language have very similar trajectories and later outcomes to children with Asperger disorder (Bennett et al., 2008; Howlin, 2003; Szatmari et al., 2000) and the two conditions are indistinguishable by school-age (Macintosh & Dissanayake, 2004), adolescence (Eisenmajer, Prior, Leekam, Wing, Ong, Gould & Welham 1998; Ozonoff, South and Miller 2000) and adulthood (Howlin, 2003).
  • Cause/aetiology: Autism and Asperger syndrome co-occur in the same families (Bolton et al., 1994; Chakrabarti & Fombonne, 2001; Lauritsen et al., 2005; Ghaziuddin, 2005; Volkmar et al., 1998). No clear evidence to date of distinct aetiology.
  • Neuro-Cognitive profile: mixed evidence, for example some authors have reported worse motor functioning in Asperger than HFA (Klin et al., 1995; Rinehart et al, 2006), while others have not found significant group differences (Jansiewicz et al., 2006; Manjiviona & Prior, 1995; Miller & Ozonoff, 2000; Thede & Coolidge, 2007). Evidence is similarly mixed for differentiation of Asperger group by lower performance than verbal IQ profile (for, Klin et al, 1995; against, Barnhill et al., 2000; Gilchrist et al., 2001; Ozonoff, South & Miller, 2000; Spek et al., 2008), better theory of mind (for, Ozonoff et al, 2000 ; against, Dahlgren & Trillingsgaard, 1996; Spek et al, in press JADD; Barbaro & Dissanayake 2007) or executive function (for, Rinehart et al, 2006; reviewed by Klin, McPartland & Volkmar, 2005 ; against, Miller & Ozonoff, 2000; Thede & Coolidge, 2007; Verte et al., 2006) . Note the risk of circularity for group differences relating to verbal ability, since early language development (grouping criterion) is generally predictive of later language abilities (Paul & Cohen, 1984; Rutter, Greenfield & Lockyer, 1967; Rutter, Mawhood & Howlin, 1992).
  • Treatment needs/response: no empirical studies demonstrating the need for different treatments or different responses to the same treatment, and in clinical practice the same interventions are typically offered.

Q.2. Does the existing research literature allow us to suggest new criteria to diagnose Asperger Disorder, in contrast to Autistic Disorder/ASD?

The current clinical and research consensus appears to be that Asperger disorder is part of the autism spectrum, although with possible over-use of the term it is quite likely that other (non-ASD) types of individuals have received this label.

Research field currently reflects two views:

• That Asperger disorder is not substantially different from other forms of 'high functioning' autism (HFA); i.e. Asperger's is the part of the autism spectrum with good formal language skills and good (at least Verbal) IQ. Note that 'HFA' is itself a vague term, with underspecification of the area of 'high functioning' (performance IQ, verbal IQ, adaptation, or symptom severity).
• That Asperger disorder is distinct from other subgroups within the autism spectrum (see Matson & Wilkins, 2008, review): e.g. Klin, et al. (2005) suggest the lack of differentiating findings reflects the need for a more stringent approach, with a more nuanced view of onset patterns and early language (e.g. one-sided verbosity, unusual circumscribed interests).

2.1. What are the proposed differences? How strong is the evidence?

Several recent comprehensive reviews of the topic are available (Howlin, 2003; Macintosh & Dissanayake, 2004; Matson & Wilkins, 2008; Witwer & Lecavalier, 2008). Matson & Wilkins (2008) suggest current criteria could work if refined and supplemented. However, the research literature to date is not able to provide strong, replicated support for new or modified criteria likely to distinguish a meaningfully different group with Asperger disorder versus autism with good (current) language and IQ. Witwer and Lecavalier's (2008) perhaps more comprehensive review concludes there is little evidence that Aspergers is distinct, and that current IQ is the main differentiating factor. Bennett et al's (2008) follow-up study suggests that language impairment at 6-8years might have greater prognostic value than early language milestones, and Szatmari et al (2009) argue (on the basis of later developmental trajectory) for a distinction between ASD with (autism) versus without (Aspergers) structural language impairment at 6-8 years.

The draft criteria for ASD proposed by the Neurodevelopmental disorders workgroup would include dimensions of severity that include current language functioning and intellectual level/disability.

Q.3. If Asperger disorder does not appear in DSM-V as a separate diagnostic category, how will continuity and clarity be maintained for those with the diagnosis?

The aim of the draft criteria is that every person who has significant impairment in social-communication and RRBI should meet appropriate diagnostic criteria. Language impairment/delay is not a necessary criterion for diagnosis of ASD, and thus anyone who shows the Asperger type pattern of good language and IQ but significantly impaired social-communication and repetitive/restricted behavior and interests, who might previously have been given the Asperger disorder diagnosis, should now meet criteria for ASD, and be described dimensionally. The workgroup aims to provide detailed symptom examples suitable for all ages and language levels, so that ASD will not be missed by clinicians in adults of average or superior IQ who are experiencing clinical levels of difficulty.

There may be some individuals with subclinical features of Asperger/ASD who seek out a diagnosis of 'Asperger Disorder' in order to understand themselves better (perhaps following an autism diagnosis in a relative), rather than because of clinical-level impairment in everyday life. While such a use of the term may be close to Hans Asperger's reference to a personality type, it is outside the scope of DSM, which explicitly concerns clinically-significant and impairing disorders. 'Asperger-type', like 'Kanner-type', may continue to be a useful shorthand for clinicians describing a constellation of features, or area of the multi-dimensional space defined by social/communication impairments, repetitive/restricted behaviour and interests, and IQ and language abilities.

References
Barbaro, J. & Dissanayake, C. (2007). A comparative study of the use and understanding of self-presentational display rules in children with high functioning autism and Asperger's disorder. Journal of Autism & Developmental Disorders. 37:1235-46.

Barnhill, G., Hagiwara, T., Myles, B.S. & Simpson, R.L. (2000). Asperger syndrome: A study of the cognitive profiles of 37 children and adolescents. Focus on Autism and Other Developmental Disabilities. 15, 146-153.

Bennett, T.A., Szatmari, P., Bryson, S.E., Volden, J., Zwaigenbaum, L., Vaccarella, L., Duku., E., & Boyle, M.H. (2008). Differentiating autism and Asperger syndrome on the basis of language delay or impairment. Journal of Autism and Developmental Disorders, 38, 616-625.

Bolton, P., Macdonald, H., Pickles, A., Rios, P., et al (1994). A case-control family history study of autism. J Child Psychol Psychiatry 35:877-900

Chakrabarti, S., & Fombonne, E. (2001). Pervasive developmental disorders in preschool children. Journal of the American Medical Association, 285, 3093-3099.

Dahlgren, S.O. & Trillingsgaard, A. (1996). Theory of mind in non-retarded children with autism and Asperger's syndrome: A research note. Journal of Child Psychology and Psychiatry. .37, 759-763.

Eisenmajer, R., Prior, M., Leekam, S., Wing, L., Gould, J., Welham, M. & Ong, B. (1996) Comparison of Clinical Symptoms in Autism and Asperger's Disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 35: 1523-31.

Eisenmajer, R., Prior, M., Leekam, S., Wing, L., Ong, B., Gould, J. & Welham, M. (1998) Delayed Language Onset as a Predictor of Clinical Symptoms in Pervasive Developmental Disorders', Journal of Autism and Developmental Disorders, 28: 527-34.

Ghaziuddin M (2005) A family history study of Asperger syndrome. J Autism Dev Disord 35:177-182

Ghaziuddin M (2008) Defining the behavioral phenotype of Asperger syndrome. J Autism Dev Disord 38:138-142

Gilchrist, A., Green, J., Cox, A., Burton, D., Rutter, M. & Le Couteur, A. (2001). Development and Current Functioning in Adolescents with Asperger Syndrome: A Comparative Study. Journal of Child Psychology and Psychiatry, 42, 227-240

Howlin, P. (2003). Outcome in high-functioning adults with autism with and without early language delays

Implications for the differentiation between autism and Asperger syndrome. Journal of Autism and Developmental Disorders, 33, 3-13.

Howlin, P. & Asgharian, A. (1999). The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families. Developmental Medicine & Child Neurology, 41:834-839.

Jansiewicz, E.M., Goldberg, M.C., Newschaffer, C.J., Denckla, M.B., Landa, R. & Mostofsky, S.H. (2006). Motor signs distinguish children with high functioning autism and Asperger's syndrome from controls. Journal of Autism & Developmental Disorders, 36:613-21.

Klin, A., Volkmar, F. R., Sparrow, S. S., Cicchetti, D. V., & Rourke, B. P. (1995). Validity and neuropsychological characterization of Asperger Syndrome: Convergence with nonverbal learning disability syndrome. Journal of Child Psychology and Psychiatry, 36, 1127-1140.

Klin A, McPartland J, Volkmar FR (2005) Asperger syndrome. In: Volkmar FR, Klin A, Paul R, Cohen DJ (eds) Handbook of autism and pervasive developmental disorders. Wiley, Hoboken, pp 88-125 Klin, A., Pauls, D., Schultz, R., & Volkmar, F. (2005).Three diagnostic approaches to Asperger syndrome: Implications for research. Journal of Autism and Developmental Disorders, 35, 221-234.

Kopra, K., von Wendt, L., Nieminen-von Wendt, T. & Paavonen, E.J. (2008). Comparison of diagnostic methods for Asperger Syndrome. Journal of Autism and Developmental Disorders, 38, 1567-73.Lauritsen, M.B., Pedersen, C.B. & Mortensen, P.B. (2005). Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. Journal of Child Psychology and Psychiatry, 46, 963-971.

Leekam, S., Libby, S., Wing, L., Gould, J. & Gillberg, C. (2000) Comparison of ICD-10 and Gillberg's criteria for Asperger syndrome. Autism, 1 4, 11-28. Macintosh, K.E., & Dissanayake, C. (2004). Annotation: The similarities and differences between autistic disorder and Asperger's disorder: A review of the empirical evidence. Journal of Child Psychology and Psychiatry, 45, 421-434.

Mahoney, W.J., Szatmari, P., MacLean, J.E., Bryson, S.E., Jones, M.B., & Zwaigenbaum, L. (1998). Reliability and accuracy of differentiating pervasive developmental disorder subtypes. Journal of the American Academy of Child and Adolescent Psychiatry, 37, 278-285.

Mandell, D.S., Novak, M.M. & Zubritsky, C.D. (2005). Factors associated with age of diagnosis among children with Autism Spectrum Disorders. Pediatrics, 116, 1480-1486.Manjiviona, J. & Prior, M. (1995) Comparison of Asperger Syndrome and High-Functioning Autistic Children on a Test of Motor Impairment. Journal of Autism and Developmental Disorders 25: 23-39.

Matson, J.L. & Wilkins, J. (2008). Nosology and diagnosis of Asperger's syndrome. Research in Autism Spectrum Disorders, 2, 288-300.Mayes SD, Calhoun SL, Crites DL (2001) Does DSM-IV Asperger's disorder exist? J Abnorm Child Psychol 29:263-271

Miller, J. N., & Ozonoff, S. (2000). The external validity of Asperger disorder: Lack of evidence from the domain of neuropsychology. Journal of Abnormal Psychology, 109, 227-238.Ozonoff, S., South, M., & Miller, J. N. (2000). DSM-IV-defined Asperger syndrome: Cognitive, behavioral and early history differentiation from high-functioning autism. Autism, 4, 29-46.Paul, R. & Cohen, D. (1984). Outcomes of severe disorders of language acquisition. Journal of Autism and Developmental Disorders, 14, 405-21.

Rinehart, N.J., Bradshaw, J.L., Moss, S.A., Brereton, A. & Tonge, B. (2006a) 'Pseudo-Random Number Generation in Children with High-Functioning Autism and Asperger's Disorder: Further Evidence for a Dissociation in Executive Functioning', Autism 10 (1): 70-85.

Rinehart, N.J., Tonge, B.J., Bradshaw, J.L., Iansek, B.I., Enticott, P. & McGinley, J. (2006b) Gait function in children with high functioning autism and Asperger's: evidence for basal-ganglia and cerebellar involvement?Eur J Child Adolesc Psychiatr, 15: 256-64.

Rutter, M., Greenfield, D., & Lockyer, L. (1967). A five to fifteen year follow-up study of infantile psychosis. II. Social and behavioural outcome. British Journal of Psychiatry, 113, 1183-1199.

Rutter, M., & Lockyer, L. (1967) A five to fifteen year follow-up study of infantile psychosis. I. Description of sample. British Journal of Psychiatry, 1967, 113, 1169-1182. Rutter, M., Mawhood, L., & Howlin, P. (1992). Language delay and social development. In E Fletcher, & D. Hall (Eds.), Specific speech and language disorders in children (pp. 63-78). London: Whurr.

Spek, A.A., Scholte, E.M. & van Berckelaer-Onnes, I.A. (2008). Brief Report: The use of WAIS-III in adults with HFA and Asperger Syndrome. J Autism Dev Disord, 38:782-787.Szatmari P, MacLean JE, Jones MB, Bryson SE, Zwaigenbaum L, Bartolucci G, Mahoney WJ, & Tuff L (2000) The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: a family history study. J Child Psychol Psychiatry 41:579-586

Szatmari, P., Bryson, S.E., Streiner, D.L., Wilson, F.J., Archer, L., & Ryerse, C. (2000). Two-year outcome of preschool children with autism or Asperger's syndrome. American Journal of Psychiatry, 15, 1980-1987.

Szatmari, P., Bryson, S., Duku, E., Vaccarella, L., Zwaigenbaum, L., Bennett, L. & Boyle, M.H. (2009). Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence. Journal of Child Psychology and Psychiatry, 50, 1459-1467.

Thede, L.L. & Coolidge, F.L. (2007) Psychological and neurobehavioral comparisons of children with Asperger's Disorder versus High-Functioning Autism. Journal of Autism & Developmental Disorders. 37:847-54.

Woodbury-Smith, M., Klin, A., & Volkmar, F. (2005). Asperger's syndrome: A comparison of clinical diagnoses and those made according to the ICD-10 and DSM-IV. Journal of Autism and Developmental Disorders, 35, 235-240.

Williams, K., Tuck, M., Helmer, M., Bartak, L., Mellis, C. & Peat, J.K. (2008). Diagnostic labelling of autism spectrum disorders in NSW. Journal of Paediatrics and Child Health. V44, 108-113.

Witwer, A.N., & Lecavalier, L. (2008). Validity of autism spectrum disorder subtypes. Journal of Autism and Developmental Disorders. 38:1611-1624. Verte, S., Geurts, H. M., Roeyers, H., Oosterlaan, J., & Sergeant, J. A. (2006). Executive functioning in children with an autism spectrum disorder: Can we differentiate within the spectrum? Journal of Autism and Developmental Disorder, 36, 351-372.

Volkmar ,FR, Klin, A & Pauls, D (1998) Nosological and genetic aspects of Asperger syndrome. J Autism Dev Disord 28:457-463

Severity
The work group is proposing that this disorder be subsumed into an existing disorder: Autistic Disorder (Autism Spectrum Disorder).

DSM-IV
Asperger's Disorder

• Qualitative impairment in social interaction, as manifested by at least two of the following:
  • 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
  • failure to develop peer relationships appropriate to developmental level
  • 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 to other people)
  • lack of social or emotional reciprocity
• Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
  • encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
  • apparently inflexible adherence to specific, nonfunctional routines or rituals
  • stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
  • persistent preoccupation with parts of objects
• The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning.
• There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years).
• There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood.
• Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.

http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=95#

299.80
Rett's Disorder

Proposed revision: The work group is recommending that this disorder not be included in DSM-5.

Rationale: Rett's Disorder patients often have autistic symptoms for only a brief period during early childhood, so inclusion in the autism spectrum is not appropriate for most individuals.

Like other disorders in the DSM, Autism Spectrum Disorder (ASD) is defined by specific sets of behaviors and not by etiology (at present) so inclusion of a specific etiologic entity, such as Rett's Disorder is inappropriate. To ensure that etiology is indicated, where known, clinicians will be encouraged to utilize the specifier: "Associated with Known Medical Disorder or Genetic Condition." In this way, it will be possible to indicate that a child with ASD has Fragile X syndrome, Tuberous Sclerosis, 22q deletion, etc.

Severity:
The work group is proposing that this disorder be subsumed into an existing disorder: Autistic Disorder (Autism Spectrum Disorder).

DSM-IV: Rett's Disorder

• All of the following:
  • apparently normal prenatal and perinatal development
  • apparently normal psychomotor development through the first 5 months after birth
  • normal head circumference at birth
• Onset of all of the following after the period of normal development:
  • deceleration of head growth between ages 5 and 48 months
  • loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing)
  • loss of social engagement early in the course (although often social interaction develops later)
  • appearance of poorly coordinated gait or trunk movements
  • severely impaired expressive and receptive language development with severe psychomotor retardation

http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=96#

299.10Childhood Disintegrative Disorder

Proposed revision:
The work group is recommending that this disorder not be included in DSM-5.

Rationale:
Similar to Asperger's syndrome, we know that child disintegrative disorder (CDD) was included in DSM-IV in order to encourage research. However, previous data had indicated that CDD is a rare condition, with most recent reports indicating prevalence of 2/100,000 (Fombonne, 2009). Unfortunately, unlike in Asperger's, data on CDD in the literature since 1994 are extremely limited and there are still questions regarding the validity of this condition as separate and distinct from autism with a regressive course. On the other hand, there has been much research interest in regression in the last 15 years. Data show that regression is not a dichotomous phenomenon (Ozonoff et al., 2008) and that many children with autism undergo a loss of skills at one time or another, but that this can occur in the setting of previously typical development or superimposed on an already aberrant developmental trajectory (Ozonoff et al., 2005). Careful review of the current criteria demonstrates that there is ambiguity which can make it difficult for practitioners to separate these two entities, particularly with respect to regressions between the second and third year of life.

The major questions concerning the validity of CDD as a separate entity from autism (or autism spectrum disorder) that were discussed include the following:

What is/are the most important aspect(s) of the disorder as separate from autism?

• The developmental trajectory before the regression?
  • How important is it to have totally typical development prior to regression?
• The type, severity, and duration of the regression?
  • How are these factors operationalized?
• The timing of the regression?
  • Is the 2-10 age range valid?
  • How to decide between CDD and autism with regression when the regression occurs between ages 2 and 3.
• The poor course/prognosis?
  • What exactly is the impact on prognosis?
  • Should this diagnosis be used in the setting of substantial recovery of lost skills?

We performed a review of the existing cases in the literature and put out a call for cases to try to determine these differences. Unfortunately very few new cases were obtained (n<10) and review of cases in the published literature did not support the idea that this is a distinct disorder from regressive autism. Specifically, in several cases it was difficult to make the distinction between autism and CDD due to age overlap of regression occurring between ages 2 and 3 (Malhotra and Gupta, 2002; Volkmar and Cohen, 1989). In addition, in some cases a diagnosis was difficult to make because of lack of proof for typical development before regression (Volkmar and Rutter, 1995). Several cases were reported to include onset of psychotic symptoms (Agarwal et al., 2005) or symptoms that abated (and/or developmental skills regained) within a short time frame with appropriate treatment (Mordekar et al., 2009). The possibility that this diagnosis is being used in the face of what could represent treatable neurological conditions is especially concerning.

In addition, studies that have compared individuals diagnosed with CDD to those diagnosed with autism (and regression) have not found substantial differences in a variety of outcome measures (Kurita et al., 2005).

These data suggest that this entity is not separate enough from autism to sustain its own diagnosis. We believe that children meeting the DSM-IV-TR criterion for CDD will now fit well within the new diagnostic criteria for autism spectrum disorders (ASD). Furthermore, the proposed dimension in ASD regarding trajectory (eg the presence or absence of regression) will certainly describe and capture those with a profound regression, thus allowing continued research into this important and interesting phenomenon.

REFERENCES
Agarwal V, Sitholey P, Mohan I (2005), Childhood Disintegrative Disorder, an atypical presentation: a case report. J Autism Dev Disord 35: 873-4
Fombonne E (2009), Epidemiology of pervasive developmental disorders. Pediatr Res 65: 591-8
Kurita H, Koyama T, Osada H (2005), Comparison of childhood disintegrative disorder and disintegrative psychosis not diagnosed as childhood disintegrative disorder. Psychiatry Clin Neurosci 59: 200-5
Malhotra S, Gupta N (2002), Childhood disintegrative disorder. Re-examination of the current concept. Eur Child Adolesc Psychiatry 11: 108-14
Mordekar SR, Prendergast M, Chattopadhyay AK, Baxter PS (2009), Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. Eur J Paediatr Neurol 13: 367-9
Ozonoff S, Heung K, Byrd R, Hansen R, Hertz-Picciotto I (2008), The onset of autism: patterns of symptom emergence in the first years of life. Autism Res 1: 320-8
Ozonoff S, Williams B, Landa R (2005), Parental report of the early development of children with regressive autism: the delays-plus-regression phenotype. Autism 9: 461
Volkmar FR, Cohen DJ (1989), Disintegrative disorder or "late onset" autism. J Child Psychol Psychiatry 30: 717-24
Volkmar FR, Rutter M (1995), Childhood disintegrative disorder: results of the DSM-IV autism field trial. J Am Acad Child Adolesc Psychiatry 34: 1092-5

Severity:
The work group is proposing that this disorder be subsumed into an existing disorder: Autistic Disorder (Autism Spectrum Disorder).

DMV-IV: Childhood Disintegrative Disorder

• Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior.
• Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas:
  • expressive or receptive language
  • social skills or adaptive behavior
  • bowel or bladder control
  • play
• motor skills
• Abnormalities of functioning in at least two of the following areas:
  • qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
  • qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play)
  • restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms
• The disturbance is not better accounted for by another specific Pervasive Developmental Disorder or by Schizophrenia.

(From: http://www.dsm5.org)