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Health

Autism Spectrum Disorder (ASD)

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  1. Symptoms: impairments in social interaction; social communication, and restricted, repetitive behavior; motor milestones may be reached late, and movement may appear awkward or rather uncoordinated; may see abnormalities from birth; in 20 to 40% or severe cases, the baby develops normally for a time but either stops learning new skills or loses the skills acquired earlier; look less at objects held by others; engage in more repetitive motor movements; restrictive, repetitive patters or behavior, interests, or activities; unusually fascinated with some activity; self-stimulation; respond to sound, touch, sight or smell in unusual ways; apparent sensory deficits (organ is not impaired by actions make it appear so); savant performance (exceptional ability in a highly specialized area of functioning often in areas of art, music, or mathematics)
    1. Social communication deficits: normal language accompanied by odd “body language” at one extreme to a total absence of verbal and nonverbal communication at the other; failure to develop normal speech; about half are mute; dysprosody (subtle disruptions in rate, rhythm, and in tone of speech); echolalia (uttering phrases back, perhaps repeatedly)
    2. Social impairment deficits: range from relatively mild problems with social or emotion reciprocity; in severe ASD cases, they have no interest in relationships and treat people like confusing, foreign objects; lacking theory of mind (failure to appreciate that other people have a different point of reference); deficits tend to be emotional and not cognitive; missing basic motivation to form attachments; gaze aversion
    3. Self-injurious behavior: repeated head banging and biting the fingers and wrists; may involve major bruises or they can be as severe as broken bones, brain damage, or death; is not suicidal behavior
  2. Diagnosis:
    1. 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):
      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 interactions, 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 communications
      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 play or in making friends; to absence of interest in peers
      4. Specify current severity
    2. 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)
      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 of verbal or nonverbal behavior (e.g., extreme difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food everyday)
      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 perseveration interests)
      4. Hyper or hypoactivity to sensory input or unusual interest 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 movements)
      5. Specify current severity
    3. 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 later in life)
    4. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning
    5. These disturbances are not better explained by an 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 and intellectual disability, social communication should be below that expected for general developmental level
  3. Course and Outcome: the sooner children that are diagnose earlier can be treated more successfully and may have an increase in IQ; no cure; more children and adults are now being cared for in their homes and communities instead or institutions; a more positive outcome can be predicted by language skills at the age of 5 or 6; joint attention (coordinating attention with another person through gestures, social responding, or social initiation, predicts language development from preschool age to 9; a quarter or more of young people with classic autism develop seizure disorder as teenagers; in adults, affective disorders are common
  4. Frequency of Disorder: 200 in 10,000 (1 in 50) suffer from ASD; a 400% in prevalence of ASD between 1998 and 2007, and a 300% prevalence by 2012; four times as many boys as girls suffer from ASD (suggests it stems from fragile-X syndrome)
  5. Etiology:
    1. fragile-X syndrome
    2. Genetics: in 60% of monozygotic twins, if one has ASD the other does too; possible genetic mutation
    3. Neuroscience: larger than average brain; unusually rapid brain growth until the age of 2 or 3; smaller volume than normal of the vertebral and cerebellar brain; abnormalities in the cerebellum and limbic system and the frontal lobe; mirror neurons fires both when an individual performs an action and when the individual observes another performing the same action; abnormalities in endorphins and neuropeptides
  6. Treatment(s):
    1. Medication: many medications are misused for ASD; antipsychotic (risperidone) helps in behavior management; SSRIs may also help with some stereotyped behavior; no medication is considered an effective treatment
    2. Applied Behavior Analysis: most promising approach to treating classic autism; focuses on treating specific symptoms including communication deficits, lack of self-care skills, and self-stimulatory or self-destructive behaviors; sets specific and small goals; attempts to teach language; first goal in to identify very specific target behaviors, the second goal is to gain control over these behaviors through the use of reinforcement and punishment; efforts must be rewarded repeatedly with primary reinforcements such as a favorite food, at least in the beginning phases of treatment; concentrate on reducing the excess of self-stimulations, self-injurious behaviors, and general disruptiveness, as well as teaching new skills to eliminate deficits in self-care and social behavior; sometimes uses a gentle slap or a mild shock to reduce or eliminate potentially dangerous behaviors such as head banging
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