Autism Spectrum Disorder Dr. Oğuzhan Zahmacıoğlu Yeditepe Uni. Med Fac. Child and Adolescent Psychiatry

Autism spectrum disorder (ASD) is highly prevalent developmental disorders of childhood and youth with an onset at an early age and leading to delays in meeting developmental milestones . The spectrum of disabilities in each unique person with ASD can range from mild to severe but they all share these characteristics on some degree… 1. Impairment in social interaction 2. Impairment in communication 3. Restricted or repetitive Patterns of behaviour, interests and activities.

Diagnostic Criteria 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.

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 behavior to suit various social contexts; to difficulties in sharing imaginative paly or in making friends; to absence of interest in peers.

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).

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).

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).

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).

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.

Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.

Specify if: With or without accompanying intellectual impairment With or without accompanying language impairment Associated with a known medical or genetic condition or environmental factor

Epidemiology Most recent reviews tend to estimate a prevalence of 1–2 per 1,000 for autism and close to 6 per 1,000 for ASD Higher prevalence in boys. For every 5 people diagnosed with ASD, 4 are male.

Causes Research indicates that genetic factors predominate. The heritability of autism, however, is complex, and it is typically unclear which genes are responsible.

Autistic brains are slightly larger and heavier. What brain regions and functional pathways appear to be affected in autism? There may be abnormalities in the amygdala, hippocampus, septum, mamillary bodies, and the cerebellum. Autistic brains are slightly larger and heavier. In the limbic system, there is an excess of cells and they are too small. The neurons themselves seem developmentally immature with a truncation in the development of their dendritic trees, which provide the basis for connections between neurons.

What brain regions and functional pathways appear to be affected in autism? Moreover, Purkinje cells are affected in a widespread fashion in the cerebellum. The anatomic differences found are consistent with a developmental curtailment that takes place at some point earlier than 30 weeks gestation. Exactly which findings are universal in autism and specific only to autism remain to be demonstrated.

People with ASD possess extraordinary skills or talents? The vast majority of people with PDD do not possess the same extraordinary skills like we saw in “Rainman”. Most people with PDD have an uneven scattering of skill development and some skills may stand out more than others.

caused by bad parenting? It has been empirically demonstrated (or scientifically proven) that parents of children with PDD do not differ from parents of typical children.

Responses to Sensory Stimuli Responses may range from being very sensitive (hypersensitive) to being unaware of sensation (hyposensitive). For example the person may fall down and scrap their leg but not feel or react to pain as much as peers (hyposensitive). On the other hand, the person may not be able to tolerate shirt labels, certain food textures or walking on grass in bare feet (hypersensitive

Patterns of Attention The person may selectively attend to limited things or may focus their attention on a small part of something. For example the child may focus on the ball, but not look at the person throwing it or they may notice the staple on the corner of the page, but not the contents of the paper. They may not notice relevant cues around them. They may have difficulty shifting attention from one thing to the next.

Anxiety may be especially seen when the child is in unfamiliar settings and unpredictable situations. the anxiety is caused by: the inability to express oneself. difficulties in processing sensory information. a high need for predictability. difficulty in understanding social expectations. fearing a situation because they are not understood.

Communication May have limited use of language – may be non- speaking, or may only use language to ask questions but not initiate conversation. May talk repetitively on one topic (trains, bugs, movies). May not understand abstract ideas and inferences. May have trouble following directions especially multi-step. May have difficulty following conversation rules (staying on topic, starting a conversation, interrupting). Literal interpretation of language. May not realize that “everybody” means them too.

Social Interactions May not use or understand appropriate facial expression, gestures, tone of voice. May not share a “joint focus of attention”. May not “get” non-verbal social cues. This interferes with comprehension of spoken word. May not initiate interactions or may initiate in unusual manner. May play along side a peer using similar toys but does not play with the peer. May have trouble understanding another person’s perspective. May not understand rules of games.

Remember that behaviours are a form of communication. Hand flapping may communicate anxiety about a situation. Repeating a phrase from a movie may be an attempt at initiating play with another child. Standing beside the swing may be a request to have someone push them.

Epidemiology We do not have a definitive answer to the question of what the true incidence of autism is. Recent studies suggest that as many as one in 500 persons may be affected by some form of autism. Males four times more likely to be diagnosed with ASD than females Families with one autistic child have a 5% risk of having another child with autism. Concordance rate with identical twins = 60%

Autism and vaccinations Five large epidemiological studies conducted in the United States, the United Kingdom, Denmark, and Sweden since 2001 consistently provided evidence that there is no association between thimerosal-containing vaccines and autism. Similarly, 14 large epidemiological studies consistently showed no association between the MMR vaccine and autism.

Deficit of central coherence Assemble puzzles without the picture Remember strings of nonsense words almost as well as sentences Can recite stories verbatim but may not be able to give you the “gist” of the story.

Treatment There is no cure for autism But there are ways to help minimize the symptoms of autism and to maximize learning

Behavioral therapy and other therapeutic options Behavior management therapy helps to reinforce wanted behaviors, and reduce unwanted behaviors. Speech-language therapists can help people with autism improve their ability to communicate and interact with others.  Occupational therapists can help people find ways to adjust tasks to match their needs and abilities. Physical therapists design activities and exercise to build motor control and improve posture and balance.

Educational and/or school-based options Typically, a team of people, including the parents, teachers, caregivers, school psychologists, and other child development specialists work together to design an Individualized Education Plan (IEP) to help guide the child’s school experiences.

Medication options Currently there are no medications that can cure autism spectrum disorders or all of the symptoms. Food and Drug Administration has not approved any medications specifically for the treatment of autism, but in many cases medication can treat some of the symptoms associated with autism. Selective serotonin reuptake inhibitors (SSRIs), tricyclics, psychoactive/anti-psychotics, stimulants, and anti- anxiety drugs are among the medications that a health care provider might use to treat symptoms of autism spectrum disorders. 

Social Communication Disorder A.      Persistent difficulties in the social use of verbal and nonverbal communication as manifested by all of the following:

1.       Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context. 2.       Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on the playground, talking differently to a child than to an adult, and avoiding use of overly formal language.

3.       Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to regulate interaction. 4.       Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation).