Object: “Autism spectrum disorder: symptoms and diagnostic criteria. the problem of employment” Author: Alina Gabriela Talamba 2, Marco O. Bertelli1-3-4 , Andrea Ballerini2, Micaela Piva Merli1-2

1. CREA – Research Center , San Sebastiano Foundation-Misericordia of Florence, Florence 2. DSNP – Department of Neurological Science and Psychiatry University of Florence, Psychiatric and Neurological Sciences Department, University of Florence, Florence. Contribution with ANFFAS Massa Carrara 3. WPA-SPID - World Psychiatric Association-Section Psychiatry of ID 4. EAMH-ID - European Association for Mental for Mental Health in Intellectual Disability

The withdrawal, the detachment from outer reality, the alienation from others and the separation from the world have been considered the most obvious and peculiar symptoms ever since the first definition of autism. The term “autism” has been first used by Eugen Bleuler in order to describe a form of schizophrenia characterized by the withdrawal in one’s inner world and by the loss of contact with the outer world. (Bleuler, 1911-1951) Bleuler’s conceptualization of schizophrenia is focused on the loss of interpretative and relational capacities, summarized by the theory of the four A: inappropriate affect, ambivalence, loosening of thought associations and autism interpreted as social withdrawal and proneness of living in a world of fantasy, rather than interacting with the social world inappropriately. Both autism and schizophrenia were classified as “common sense disorders”( Minkowski, 1927; Stanghellini, 2000): Minkowsky described the “autisme riche” characterized by the pervasive attempt of finding meanings in the environment and comparable to the current concept of productive schizophrenia and the “autisme pauvre” , a prevalent loss of contact with the outer world comparable to the current concept of autism. Kanner first described the “Autistic disturbances of affective contact”. He described eleven children with extreme loneliness, echolalia and obsessive-anxious desire of maintaining the environment unchanged. Some of them had even extraordinary memory capacity. In the 1944 Asperger used an analogue term, “autistichen psychopathen”, in order to describe other patients surprisingly similar to the ones described by Kanner. Nevertheless he noted three important differences: 1) a more fluent speech 2) the difficulty of carrying out gross movements but not fine movements; 3) a different capacity of learning. Asperger defined his patients “abstract thinkers”, while according to Kanner those were better learning in a mechanical manner. Therefore there were two different diagnostic syndromes: The Autism of Kanner and the Asperger Syndrome, despite of the important similarities (afterwards there was hypothesized that Asperger Syndrome was characterizing the autistic individuals with a relatively high IQ).

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During the '50 and the '60 autism is being considered an early manifestation of schizophrenia, an emotional disorder settled in the parent-child dynamics. There is not available yet a coherent and ultimate definition. The first two DSM editions are describing it respectively as “Schizophrenic Reaction, Childhood type” (APA, 1952) and “Schizophrenia, childhood type”(APA, 1968). During the '70 arises the idea that autism could know a biological cause and it is no longer considered incompatible with mental retardation (MR). The DSM-III (APA, 1980) introduces 6 criteria for the diagnosis of “childhood autism” including early onset within 30 months , disturbances of communication and speech, limited interests and fear of change. For the first time the difference between autism and schizophrenia is emphasized and it is introduced the definition of Pervasive Developmental Disorder carrying forward the concept of “syndrome”and underlining the presence of problems of affect, bizarre movements, speech anomalies, hyper or hypo-sensibility and self-harming; asociality and lack of empathy are also being mentioned. During the ’80 there was a strong discrepancy between the two main international nosographic systems, The ICD-9(1980) of the OMS considered autism to be a psychosis subtype having origins during childhood. The DSM-III-R(APA,1987) gives an even more complex definition which requires at least 8 in 16 criteria included inside the three domains of social interaction, communication/imagination and interests/activity. The age of onset is switched “by the age of 36 months”. It is even inaugurated a new category, the DPS-NOS for children who are satisfying only some of the diagnostic criteria for the autistic disorder. The DPS-NOS were defined by subthreshold symptoms , too slight to allow a diagnosis of autism. During the '60 the first studies were showing the existence of children characterized by only some of the core-symptoms of autism, associated with MR and childhood psychosis. In DSM-IV the diagnostic criteria are being furthermore refined and the number of DPS rises to five: Autistic Disorder, Asperger Disorder, Rett Disorder, Childhood Disintegrative Disorder and DPS-NOS. The ICD-10(1994) adds autism to the general chapter “Global alterations of psychological development” and particularly to “generalized developmental disorders”. The autistic disorder , initially considered to be a form of childhood psychotic disorder, is being distinguished from psychosis and acquires a certain nosographic autonomy. The DSM-IV-TR (APA, 2000) introduces the term “Autism Spectrum Disorder”(ASD) as a synonymous of DPS, together with the term “atypical autism” as synonymous of “disorder not otherwise specified”.

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The main items of autism are being limited to four and this determines the inclusion of many other conditions ascribable even to other different disorders. According to the revision of the IV edition of DSM (DSM IV-TR) valid until may 2013 and translated to Italian in February 2014,the diagnosis of autism requires the following criteria: A. 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): (1) qualitative impairment in social interaction, as manifested by at least two of the following: (a) marked impairment in the use of multiple nonverbal behaviours, 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) 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) (d) lack of social or emotional reciprocity (2) qualitative impairments in communication, as manifested by at least one of the following: (a) 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) (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others (c) stereotyped and repetitive use of language or idiosyncratic language (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level (3) restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities as manifested by at least one of the following: (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (b) apparently inflexible adherence to specific, no-functional routines or rituals (c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex wholebody movements) (d) persistent preoccupation with parts of objects B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1)

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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's disorder or childhood disintegrative disorder. In DSM-IV TR autism is being distinguished from other disorders with similar symptoms, defined as “pervasive developmental disorders” and including together with Rett Syndrome and Childhood Disintegrative Disorder, Asperger Syndrome and the forms not other specified. The extreme variability of autism symptoms which has been widely described by clinicians and researchers during the past 15 years determined the extensors of DSM-5 (APA,2013) to write a substantial revision of the concept of autism and pervasive developmental disorders. Thus determined the built of a new diagnostic criteria named Autism Spectrum Disorder (ASD). The disorder has been located in a meta-syndromic group named “Neurodevelopmental disorders” which includes conditions with an early onset during the developmental age, often preceding the school beginning and characterized by development deficit which compromises personal, social, scholastic and occupational functioning. The range of deficit extends from specific limitations in learning and in executive function controlling to a global compromission of social abilities or intelligence. The neurodevelopmental disorders often arise together, for example individuals with autism can also present intellectual disability and many children with ADHD may also manifest a specific learning disorder. Neurodevelopmental disorders 1. Autism Spectrum Disorders 2. Intellectual Disability 3. Communication disorders Language disorder Speech sound disorder Social communication disorder 4. Attention Deficit Hyperactivity Disorder 5. Specific learning disorder 6. Motor disorders

As compared to DSM IV-TR, DSM-5 has adopted a less categorical and more dimensional approach , in which each pervasive developmental disorder has been substituted by a single autism spectrum in continuum, from forms with low functioning to forms with high general abilities.

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The DSA diagnosis comes together with an indication of severity expressed by a scale of three. the three symptomatologic areas of DSM-IV have been reduced to 2: the communication deficit and the one of social reciprocity were brought together in “ deficit in social communication”. It has been confirmed the group of “repetitive behaviours”. The chronological criterion for the onset of symptoms has been widely modified: from 36 months to “early childhood” and with the possibility of other ages of onset in the situations in which are requested social abilities to which the subject cannot cope with. The Asperger Syndrome, the Childhood Disintegrative Disorder and DPS-NOS are not recognized anymore as single nosological entities. Rett Syndrome became an independent disorder, with a precise etiopathogenesis. According to DSM-5 the Autism Spectrum Disorder criteria are: A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following: 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. 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. 3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behaviour to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers. B. Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following: 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). 2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behaviour (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). 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).

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4. Hyper- or hypo reactivity 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). 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. There are three levels of severity according to DSM-5 : Level 1: Requiring support -Social communication: without support the deficits in social communication cause noticeable impairments. The subject has difficulty initiating social interactions, and shows clear examples of atypical or unsuccessful response to social overtures of others. May appear to have decreased interest in social interactions. -Restricted, repetitive behaviours: Inflexibility of behaviour causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence. Level 2: Requiring substantial support -Social communication: Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions; and reduced or abnormal responses to social overtures from others. -Restricted, repetitive behaviours: Inflexibility of behaviour, difficulty coping with change, or other restricted/repetitive behaviours appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress and/or difficulty changing focus or action. Level 3: Requiring very substantial support -Social communication: Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning, very limited initiation of social interactions, and minimal response to social overtures from others. -Restricted, repetitive behaviours: Inflexibility of behaviour, extreme difficulty coping with change, or other restricted/repetitive behaviours markedly interfere with functioning in all spheres. Great distress/difficulty changing focus or action. The debate concerning the ultimate definition of autism core symptoms is still rather heated. Some authors are suggesting to base the diagnosis on the repetitive behaviour, on the stereotipies, others are more likely to consider the sensorial sensibility. There are studies indicating the presence of sensorial anomalies in 95% of adults. In the former case the sensorial problems are even more frequent as compared to the social interaction problems. (Happè & Ronald, 2008; Billstedt et al., 2007).

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The employment issue in ASD patients Taylor and Seltzer found very high rates of unemployment among individuals with ASD with only 18% of the sample reporting competitive or supported employment. Notably, of the young adults in this sample who were employed, the vast majority was engaging in low-paid work and almost all of them were working less than thirty hours per week. Furthermore over 25 % of the young adults with ASD without intellectual disability (ID) had no daytime activities of any kind compared to only 8 % of young adults with ID, suggesting a disparity between those with and without ID in the availability and/or appropriateness of adult day services.(Taylor et al, 2010) Individuals with high-functioning autism Patients with ASD have difficulties in obtaining and maintaining employments with high rates of unemployment of more than 40 % in individuals with high-functioning autism and up to 95 % in autistic individuals with intellectual disabilities. Individuals with high-functioning autism (HFA), who experience deficits in social cognition that often lead to social exclusion and unemployment. Despite good education and high motivation, individuals with HFA do not reach employment rates higher than 50 %. High unemployment rates further lead to low self-esteem, social isolation, stress, and comorbid disorders, including depression in approximately 40 % of autistic persons. Individuals with autism are more likely to lose employment because of social interaction problems rather than difficulties with work task performance. Social skills training Another important aspect of intervention planning in individuals with ASD is social skills training. There are a number of treatment methods including social stories, peer-mediated interventions, scripts and script fading, social skills group, video modeling (Reichov 2010).However, total amelioration of social skills deficits has not been demonstrated, and social difficulties remain even in individuals with successful treatment. An intervention often used to treat social deficits for these individuals with ASD is social skills groups. A review by Reichow B and colleagues (2012) synthesized the results of five randomized controlled trials of social skills groups including 196 individuals with autism spectrum disorders (aged 6 to 21 years). Individuals receiving treatment showed some indications of improved social competence and better friendships when compared with those not receiving treatment. Participants receiving treatment also showed signs of less loneliness. The ability to recognize different emotions was measured in two studies and there was no evidence that it was improved by taking part in a social skills group. Social communication as it relates to idiomatic expressions was only reported in one study and no significant differences between treatment and control group were found. Nor was there evidence of a beneficial effect of social skills groups on parental or child depression. For individuals with ASD the emergence of adulthood involves changes in educational, occupational and relational arenas and the development of new roles. Studies on psychosocial functioning show that a rather high proportion of autistic individuals are unsuccessful

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in establishing and maintaining social relationships, most likely due to communication deficits linked to the disorder. (Vogeley et al, 2013). Similarly, a recent analysis by Shattuck and colleagues found that after young adults with ASD left the public school system, 80 % continued to live at home, only 32 % attended postsecondary education, just 6 % had competitive jobs, and 21 % had no employment or education experiences at all. Furthermore, 40 % reported having no friends. Consistent with the findings of Taylor and Seltzer, a number of post secondary outcomes were worse for individuals with ASD without ID. For example, they were three times more likely to have no daytime activities . The lack of services and day time activities may place young adults with ASD at risk for increased behavioural and mental health difficulties and decreased functional independence . Taken together, these findings demonstrate the continuing need for targeted interventions during the adolescent and adult period for individuals with ASD. Programs that help families of individuals with ASD find appropriate local services and daytime activities for the future young adult may be particularly useful.

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