Katedra i Klinika Psychiatrii Collegium Medicum UMK Małgorzata Dąbkowska Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence Autism Katedra i Klinika Psychiatrii Collegium Medicum UMK

People with autism have difficulties communicating, forming relationships with others and find it hard to make sense of the world around them. 9/22/2018

•Pervasive Developmental Disorders: DSM-IV-TR Axis I: Clinical Disorders; Other Conditions That May Be a Focus of Clinical Attention Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence •Pervasive Developmental Disorders: Asperger's Disorder Autistic Disorder Childhood Disintegrative Disorder = Autism Spectrum Disorder (1-3) Rett's Disorder Pervasive Developmental Disorder (Including Atypical Autism) NOS (299.80) 9/22/2018

ICD 10: F84 Pervasive developmental disorders F84.0 Childhood autism F84.1 Atypical autism .10 Atypicality in age of onset .11 Atypicality in symptomatology .12 Atypicality in both age of onset and symptomatology F84.2 Rett's syndrome F84.3 Other childhood disintegrative disorder F84.4 Overactive disorder associated with mental retardation and stereotyped movements F84.5 Asperger's syndrome F84.8 Other pervasive developmental disorders F84.9 Pervasive developmental disorder, unspecified 9/22/2018

F84.0 Childhood autism Presence of abnormal or impaired development before the age of three years, in at least one out of the following areas: (1) receptive or expressive language as used in social communication; (2) the development of selective social attachments or of reciprocal social interaction; (3) functional or symbolic play. B. Qualitative abnormalities in reciprocal social interaction, manifest in at least one of the following areas: (1) failure adequately to use eye-to-eye gaze, facial expression, body posture and gesture to regulate social interaction; (2) failure to develop (in a manner appropriate to mental age, and despite ample opportunities) peer relationships that involve a mutual sharing of interests, activities and emotions; (3) a lack of socio-emotional reciprocity as shown by an impaired or deviant response to other people's emotions; or lack of modulation of behaviour according to social context, or a weak integration of social, emotional and communicative behaviours. 9/22/2018

F84.0 Childhood autism C. Qualitative abnormalities in communication, manifest in at least two of the following areas: (1) a delay in, or total lack of development of spoken language that is not accompanied by an attempt to compensate through the use of gesture or mime as alternative modes of communication (often preceded by a lack of communicative babbling); (2) relative failure to initiate or sustain conversational interchange (at whatever level of language skills are present) in which there is reciprocal to and from responsiveness to the communications of the other person; (3) stereotyped and repetitive use of language or idiosyncratic use of words or phrases; (4) abnormalities in pitch, stress, rate, rhythm and intonation of speech; 9/22/2018

F84.0 Childhood autism D. Restricted, repetitive, and stereotyped patterns of behaviour, interests and activities, manifest in at least two of the following areas: (1) an encompassing preoccupation with one or more stereotyped and restricted patterns of interest that are abnormal in content or focus; or one or more interests that are abnormal in their intensity and circumscribed nature although not abnormal in their content or focus. (2) apparently compulsive adherence to specific, non-functional, routines or rituals; (3) stereotyped and repetitive motor mannerisms that involve either hand or finger flapping or twisting, or complex whole body movements; (4) preoccupations with part-objects or non-functional elements of play materials (such as their odour, the feel of their surface, or the noise or vibration that they generate); (5) distress over changes in small, non-functional, details of the environment. E. The clinical picture is not attributable to the other disorders :F80.2, F94.1, F94.2, F70-F72, F20, F84.2.

Autism is defined in the DSM-IV-TR as exhibiting at least a total of six symptoms, including at least 2 symptoms of qualitative impairment in social interaction, at least 1 symptom of qualitative impairment in communication, and at least 1 symptom of restricted and repetitive behavior Onset must be prior to age three years, with delays or abnormal functioning in either social interaction, language as used in social communication, or symbolic or imaginative play. 9/22/2018

Prevalence autism is four to five times more common among boys than girls .04% = 4/10,000 children 80% <70 II Twin studies reported 60% concordance for classic autism in monozygotic (MZ) twins versus 0% in dizygotic (DZ) twins Course 50% institution care 35-45% whole day care 5-17% good function Better prognosis Higher intelligence Onset of developing speech before 5 year Autism Spectrum Disorder prevalence of approximately 3 to 6/1000, with a male to female ratio of 3:1. 9/22/2018

Screening early sings Most parents notice their children's unusual behaviors by age 18 to 24 months . Some of the early signs for the child to be evaluated by a specialist without delay include: No babbling by 12 months, No gesturing (pointing, waving goodbye) by 12 months. No single words spoken by 16 months, No two-word spontaneous phrases (not including echolalia) by 24 months, Loss of any form of language or social skills, at any age . Screening tools include: - the Modified Checklist for Autism in Toddlers (M-CHAT) - the Early Screening of Autistic Traits Questionnaire, - the First Year Inventory. Screening tools designed for one culture's norms for behaviors like eye contact may be inappropriate for a different culture 9/22/2018

What causes the autism No one knows exactly why but the brain develops differently in people with autism. The absence of a clear understanding about what causes autism makes finding effective therapies very difficult. A predisposition to autism is inherited with the underlying genetic cause of up to 40% of autism cases having now been identified. It is not clear why a genetic predisposition affects some family members and not others. There are currently no biological tests to confirm a diagnosis of autism. Identification of the condition is at present based solely on observed behaviours. Research is also taking place to establish the part played, if any, by environmental factors either prenatally or after a child is born. Autism is no longer attributed, as it once was, to lack of affection in the child's mother. 9/22/2018

Causes Autism is thought to be an inherited disorder. Significant interactions among mutations in several genes, or between the environment and mutated genes. All known teratogens related to the risk of autism appear to act during the first eight weeks from conception . Environmental factors: certain foods, infectious disease, heavy metals, solvents, diesel exhaust, phthalates and phenols used in plastic products, pesticides, alcohol, smoking, drugs, and vaccines (there has been no proven evidence about cause and effect ). Prenatal and perinatal risk factors: maternal age, paternal age, low birth weight, gestation duration, hypoxia during childbirth Autism is associated with several genetic disorders : Fragile X syndrome, Cohen syndrome, Tuberous sclerosis, Angelman syndrome, Down syndrome, 22q13 deletion and Smith-Lemli-Opitz syndrome. Mental retardation (ranging from mild to profound) is also a risk factor. Epilepsy, and some metabolic disorders, such as phenylketonuria Boys are at higher risk for autism than girls. The sex ratio averages 4.3:1.

Factors associated with an increased prevalence of autism A sibling with autism Birth defects associated with central nervous system malformation and/or dysfunction, including cerebral palsy Gestational age less than 35 weeks Parental schizophrenia-like psychosis or affective disorder Maternal use of sodium valproate in pregnancy Intellectual disability Neonatal encephalopathy or epileptic encephalopathy, including infantile spasms Chromosomal disorders such as Down's syndrome Genetic disorders such as fragile X Muscular dystrophy Neurofibromatosis Tuberous sclerosis 9/22/2018

Autism is associated with several genetic disorders 9/22/2018

9/22/2018

Deegres of PDD Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident as well. Unusual responses to sensory information – loud noises, lights – are also common. 9/22/2018

Treatment Treatments for autism vary depending on the needs of the individual. In general, treatments fall into three categories: Behavioral and communication therapy Medical and dietary therapy Complementary therapy (music or art therapy, for example) 9/22/2018

Treatment Medicines for Treating Core Symptoms Treatment for Associated Medical Conditions Complementary Treatments for Autism Applied Behavior Analysis (ABA) The Early Start Denver Model (ESDM) Pivotal Response Therapy (PRT) Verbal Behavior Therapy Floortime Relationship Development Intervention (RDI) Training and Education of Autistic and Related Communication Handicapped Children (TEACCH) Social Communication/ Emotional Regulation/ Transactional Support (SCERTS) Treatments Available for Speech, Language and Motor Impairments 9/22/2018

F84.1 Atypical autism A. Presence of abnormal or impaired development at or after age three years (criteria as for autism except for age of manifestation). B. Qualitative abnormalities in reciprocal social interaction or in communication, or restricted, repetitive and stereotyped patterns of behaviour, interests and activities (criteria as for autism except that it is not necessary to meet the criteria in terms of number of areas of abnormality). C. The disorder does not meet the diagnostic criteria for autism (F84.0). Autism may be atypical in either age of onset (F84.11) or phenomenology (84.12), these two types being differentiated with a fifth character for research purposes. 9/22/2018

F84.1 Atypical autism F84.10 Atypicality in age of onset A. Does not meet criterion A for autism. That is, abnormal or impaired development is evident only at or after age three years. B. Meets criteria B, C, D and E for autism (F84.0). F84.11 Atypicality in symptomatology A. Meets criterion A for autism (i.e. presence of abnormal or impaired development before the age of three years). B. Qualitative abnormalities in reciprocal social interactions or in communication, or restricted, repetitive and stereotyped patterns of behaviour, interests and activities (criteria as for autism except that it is not necessary to meet the criteria in terms of number of areas of abnormality). C. Meets criterion E for autism. D. Does not meet the full criteria B, C and D for autism (F84.0) 9/22/2018

F84.1 Atypical autism F84.12 Atypicality in both age of onset and symptomatology A. Does not meet criterion A for autism. That is abnormal or impaired development is evident only at or after the age of three years. B. Qualitative abnormalities in reciprocal social interactions or in communication, or restricted, repetitive and stereotyped patterns of behaviour, interests and activities (criteria as for autism except that it is not necessary to meet the criteria in terms of number of areas of abnormality). C. Meets criterion E for autism. D. Does not meet the full criteria B, C and D for autism (F84.0). 9/22/2018

F84.2 Rett's syndrome A. Apparently normal prenatal and perinatal period and apparently normal psychomotor development through the first six months and normal head circumference at birth. B. Deceleration of head growth between five months and four years and loss of acquired purposeful hand skills between six and 30 months of age that is associated with concurrent communication dysfunction and impaired social interactions and appearance of poorly coordinated/unstable gait and/or trunk movements. C. Development of severely impaired expressive and receptive language, together with severe psychomotor retardation. D. Stereotyped midline hand movements (such as hand wringing or washing) with an onset at or after the time that purposeful hand movements are lost. 9/22/2018

Asperger's Syndrome is diagnosed when specific criteria are met These include: Poor social interaction. Unusual behavior, interests, and activities. No delay in language development. No delay in self-help skills and curiosity about the environment 9/22/2018

F84.5 Asperger's syndrome A. A lack of any clinically significant general delay in spoken or receptive language or cognitive development. Diagnosis requires that single words should have developed by two years of age or earlier and that communicative phrases be used by three years of age or earlier. Self-help skills, adaptive behaviour and curiosity about the environment during the first three years should be at a level consistent with normal intellectual development. However, motor milestones may be somewhat delayed and motor clumsiness is usual (although not a necessary diagnostic feature). Isolated special skills, often related to abnormal preoccupations, are common, but are not required for diagnosis. B. Qualitative abnormalities in reciprocal social interaction (criteria as for autism). C. An unusually intense circumscribed interest or restricted, repetitive, and stereotyped patterns of behaviour, interests and activities (criteria as for autism; however it would be less usual for these to include either motor mannerisms or preoccupations with part- objects or non-functional elements of play materials). D. The disorder is not attributable to the other varieties of pervasive developmental disorder; schizotypal disorder (F21); simple schizophrenia (F20.6); reactive and disinhibited attachment disorder of childhood (F94.1 and .2); obsessional personality disorder (F60.5); obsessive-compulsive disorder (F42). 9/22/2018

Diagnostic Criteria for Asperger Syndrome according to Gillberg In order to be able to get a diagnosis for Asperger Syndrome, all the six criteria must be met 1. Severe impairment in reciprocal social interaction at least two of the following: a) inability to interact with peers b) lack of desire to interact with peers c) lack of appreciation of social cues d) socially and emotionally inappropriate behavior 2. All-absorbing narrow interest at least one of the following: a) exclusion of other activities b) repetitive adherence c) more rote than meaning 3. Imposition of routines and interests at least one of the following: a) on self, in aspects of life b) on others

Diagnostic Criteria for Asperger Syndrome according to Gillberg 4. Speech and language problems at least three of the following: a) delayed development b) superficially perfect expressive language c) formal, pedantic language d) odd prosody, peculiar voice characteristics e) impairment of comprehension including misinterpretations of literal/implied meanings 5. Non-verbal communication problems at least one of the following: a) limited use of gestures b) clumsy/gauche body language c) limited facial expression d) inappropriate expression e) peculiar, stiff gaze 6. Motor clumsiness: poor performance on neurodevelopment examination 9/22/2018

Prevalence AS the exact prevalence of Asperger syndrome is unknown the syndrome appears to be considerably more common in boys than in girls the male: female ratio was 9:1. 9/22/2018

Differential diagnosis of AS Normal variant of personality Schizoid personality Schizophrenia Other psychotic syndromes Obsessional neurosis Affective conditions Early childhood autism 9/22/2018

Research by the National Autistic Society has found that 90% of parents of children with Asperger Syndrome report their child has been a target of bullying in the past year 20% children with autism have been excluded from school 15% of adults with autism are in full time paid employment 49% of adults with autism still live with their parents 9/22/2018