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Autism Spectrum Disorders and Learning Disorders
Basheer Lotfi-Fard, MD
Assistant Clinical Professor
Department of Psychiatry
Objectives
Identify the epidemiologic, neurobiologic, and clinical manifestations of autism spectrum disorders.
Describe the diagnostic criteria for mental retardation, autism and other pervasive developmental disorders
Identify the epidemiologic and genetic characteristics of these conditions
Describe treatment approaches for behavioral and psychiatric comorbidity associated with these conditions
DSM IV TR
Autistic Disorder Asperger's Disorder Childhood Disintegrative Disorder Rett's Disorder Pervasive Developmental Disorder NOS
DSM IV TR
Autistic Disorder:
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 behaviors 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
DSM IV TR
Autistic Disorder:
(3) restricted repetitive and stereotyped patterns of behavior, 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, nonfunctional routines or rituals
(c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body 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) 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
Autistic Disorder
Prevalence – 2-5/10,000 in US, 5.2/10,000 worldwide Males > Females (3-4:1), but females more severe
symptoms Highly heritable: 60-90 % monozygotic twins, 3-5% of
having second child
Autistic Disorder
Cause is unknown, but not due to vaccines! Measles-Mumps-Rubella (MMR) vaccine alleged to have
caused a gastrointestinal disease resulting in an encephalitis
Based on an inadequate study that was questioned to have financial incentive
Decreased vaccination has not changed incidence of autism, but led to increased rates of measles
Autistic Disorder
50% have comorbid mental retardation Anxiety, hyperactivity, obsessions, and oppositional
behaviors commonly observed, but difficult to determine if part of the disorder or a separate condition
Psychosis and mania rarely occur, and must have high suspicion for medical cause
Autistic Disorder
25% have epilepsy, and 33% with mental retardation will have seizures
Highest risk is during early childhood, and most common in partial seizure
Females have higher risk than males 6.7% will have abnormal EEG without seizure
Autistic Disorder
25% have difficulty with sensory processing/integration High pain threshold, gross and fine motor deficits, or
hypersensitivity to sounds, lights, smells, textures, motions
Occupational therapy can assist with integrating a ‘sensory diet’ into treatment
Autistic Disorder
Evaluation: autistic symptoms along with level of intellectual functioning, vocabulary and grammar skills, fine and gross motor skills, sensory processing deficits, and other psychiatric illnesses
Autistic Disorder
Treatment: May include speech therapy, occupational therapy,
behavioral, special education services Less than 10% receive recommended level of services
due to lack of funds and shortage of providers
Autistic Disorder
Applied Behavioral Analysis – relies on operant conditioning (presenting stimulus to evoke specific response), use parents as co-therapist, can also be home based
Picture Exchange Communication System (PECS) – designed for early nonverbal symbolic communication, child requests for objects and expresses emotions
Autistic Disorder
Aripirpazole and Risperidone: FDA approved for irritability associated with Autism
Higher susceptibility to extrapyramidal symptoms and weight gain
No medications to assists with social skills, language, or cognitive deficits
Rett’s Disorder
Due to mutation in MECP2 (X-linked) 2nd most common cause of mental retardation Almost exclusively found in girls, rarely in boys with XXY
abnormality Deceleration of growth of head circumference between
ages 6 months to 4 years old and loss of previously developed motor and social skills
Learning Disorders
Average annual expense $10,588 (1.6x higher than regular student)
40% drop out or enter juvenile justice system
Diagnosis
DSM – skill deficit and resulting functional impairment Office of Special Education and Rehabilitative Services
(2004) – if a child does not achieve adequately or meet state-approved, grade level standards, further intervention is needed
Treatment
Response to Intervention – develop plan to help students achieving behind same-grade peers, and if ineffective further assess for causes
Differential Diagnosis
Must rule out following: visual deficits, hearing deficits, motor disability, mental retardation, emotional disturbance, limited proficiency in English, environmental/economic factors (homelessness, hunger), or cultural factors (no emphasis by parents to study)
Mental Retardation
IQ of approximately 70 or below, or 71-75 if significant adaptive deficits are present
Concurrent deficits in adaptive functioning in at least two of the following areas: communication, self-care and home living, social/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health issues and safety
Onset before age 18 y/o
Mental Retardation
Mild (50-55 to 70) – 3% Moderate (35-40 to 50-55) – 0.4% Severe (20-25 to 35-40) – 0.1% Borderline Intellectual Functioning (71-84) – 7%
Mental Retardation
Causes: Chromosomal Defects – Down Syndrome, Fragile X Genetic Disorders – Tuberous Sclerosis Pre- and Perinatal Complications – Fetal Alcohol
Syndrome, Hypoxia Medical Conditions – Lead intoxication, Tay-Sachs
Disease
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