Conditions - Autism Flashcards
Facts
National Alliance for Autism Research reveals that autism is now considered the fastest growing developmental disorder in the United States.
Genetic
Recurrence of Autism in siblings and twins is 3%-5; Identical twins have a 65% of having ASD
Family Studies or linkage analysis identified genes that may be related to multiple chromosomes including 2,7, and 15.
Candidate gene studies focus on genes in early brain development
Associated with known etiologies
Children with tuberous sclerosis and fragile X are @ risk for ASD’s
Environmental Exposures
Teratogens: thalidomide, valproic acid, and mesoprostol
Vaccinations: controversy exists however current research does not provide evidence to link thimerosal to ASD
Infections: prenatal infection with rubella, CMV, and influenza
Autistic Disorder
- Defined by a pattern distributed across three areas, two must be in social reciprocity
- Described first by Dr. Leo Kanner in 1943 who observed several patients with social aloofness, rigid and repetitive behaviors.
- Several psychologists believed autism was caused by poor parenting, otherwise known as “refrigerator mom”
- Symptoms can range from very mild to quite severe.
diagnostic criteria
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
(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 precoccupation 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.
aspergers disorder -description
- Observed first by Dr. Hans Asperger observed children with apparently typical language who had difficulties with socialization, could not conform to social demands, and had repetitive behaviors.
- Can be diagnosed if three symptoms-to related to social reciprocity and one to habitual behaviors-are present.
- Language development must be within normal limits although pragmatic language may be delayed.
- Overlap exists between the diagnosis of high-functioning autism (a person with Autistic Disorder and normal IQ) and Asperger’s Disorder
aspergers - diagnostic criteria
A. Qualitative impairment in social interaction, as manifested by at least two of the following:
(1) 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
(2) failure to develop peer relationships appropriate to developmental level
(3) 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 to other people)
(4) lack of social or emotional reciprocity
B. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
(1) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
(2) apparently inflexible adherence to specific, nonfunctional routines or rituals
(3) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
(4) persistent preoccupation with parts of objects
C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning.
D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years).
E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood.
F. Criteria are not met for another specific pervasive developmental disorder or schizophrenia.
rett’s disorder -description
- Classified as an ASD because it involves the loss of previously obtained language and social milestones.
- Predominantly seen in Girls.
- Deterioration in function is accompanied by the development of a set of mid-line stereotyped hand movements.
- Associated with a mutation in the methyl-CpG-binding protein 2 (MeCP2) gene on the X chromosome.
- Affected children have a history of normal birth and infancy, with slowing of head growth and loss of or no further gains in cognitive, language, and motor skills within the second year of life.
- Spasticity in the LEs, seizures, constipation, and hyperventilation/breath holding are also common.
- ** although children lose language and social interest with initial deterioration, social approach and interest often returns.
rett’s disorder - diagnostic criteria
A. All of the following:
(1) apparently normal prenatal and perinatal development
(2) apparently normal psychomotor development through the first 5 months after birth
(3) normal head circumference at birth
B. Onset of all of the following after the period of normal development:
(1) deceleration of head growth between ages 5 and 48 months
(2) loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (i.e., hand-wringing or hand washing)
(3) loss of social engagement early in the course (although often social interaction develops later)
(4) appearance of poorly coordinated gait or trunk movements
(5) severely impaired expressive and receptive language development with severe psychomotor retardation
Childhood disintegrative disorder - description
- Rare disorder in which all aspects of development will proceed typically until 3-5 years of age, when skills in all domains regress.
- Language, cognitive ability, social reciprocity, play, motor skills, and basic adaptive functions such as bowel and bladder skills deteriorate.
- Behaviors stabilize at a lower level of functioning.
- Diagnosis can be made if a late regression is documented.
- CDD may be the result of several neurodegenerative disorders.
Child hood Disintegrative Disorder - Diagnostic criteria
A. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social relationships, play, and adaptive behavior.
B. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas:
(1) expressive or receptive language
(2) social skills or adaptive behavior
(3) bowel or bladder control
(4) play
(5) motor skills
C. Abnormalities of functioning in at least two of the following areas:
(1) qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
(2) qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play)
(3) restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypes and mannerisms
D. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia.
Pervasive Developmental disorder -not otherwise specified
- The diagnosis of PDD is used to describe children who do not have the number or distribution symptoms for another diagnosis with-in the ASDs or have atypical presentation but have functional impairments in the relevant areas.
- There is no minimum number of symptoms necessary to diagnose PDD-NOS
- The conmorbidity of cognitive, language, and behavioral symptoms with PDD-NOS may result in significant functional impairment, although fewer symptoms of autism are present.
PDD-NOS : Diagnostic criteria
This category should be used when there is a severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific pervasive developmental disorder, schizophrenia, schizotypal personality disorder, or avoidant personality disorder. For example, this category includes “atypical autism” –presentations that do not meet the criteria for autistic disorder because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these.
