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86 Cards in this Set
- Front
- Back
3 key features of PDD?
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social
language behaviour restricted |
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Usual onset of PDD?
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before age 3
around 18months language does not develop as expected key period really is 1-3 |
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What is associated with Autistic Ds?
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2/3 or more have MR
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What are all the PDD's?
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Autistic Ds
Retts Childhood Disintegrative Ds Aspergerg's NOS |
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Describe Rett's Ds
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appears to occur exclusively in girls; it is characterized by normal development for at least 6 months, stereotyped hand movements, a loss of purposeful motions, diminishing social engagement, poor coordination, and decreasing language use
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Describe childhood disintegrative ds
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In childhood disintegrative disorder, development progresses normally for the first 2 years, after which the child shows a loss of previously acquired skills in two or more of the following areas: language use, social responsiveness, play, motor skills, and bladder or bowel control.
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Describe Asperger's Ds
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sperger's disorder is a condition in which the child is markedly impaired in social relatedness and shows repetitive and stereotyped patterns of behavior without a delay in language development. In Asperger's disorder, a child's cognitive abilities and adaptive skills are normal.
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Autistic disorder is believed to occur at a rate of about ? cases per ? children (? percent)
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Autistic disorder is believed to occur at a rate of about 8 cases per 10,000 children (0.08 percent)
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Autistic Disorder and gender?
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4 to 5X more frequent in boys than in girls
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IQ and gender with Austitic Dis
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Girls with autistic ds are more likely to have severe MR
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SES and Autism?
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No link
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Describe genetic factors in Autism
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Family studies have demonstrated a 50 to 200 times increase in the rate of autism in siblings of an index child with autistic disorder
Additionally, even when not affected with autism, siblings are at increased risk for a variety of developmental disorders often related to communication and social skills |
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Linkage analyses have demonstrated that regions of chromosomes are likely to contribute to the genetic basis of autism
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7, 2, 4, 15, and 19
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The concordance rate of autistic disorder in the two largest twin studies was ? percent in monozygotic pairs versus ? percent in dizygotic pairs in one study and about ? percent in monozygotic pairs versus about ? percent in dizygotic pairs in the second study.
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The concordance rate of autistic disorder in the two largest twin studies was 36 percent in monozygotic pairs versus 0 percent in dizygotic pairs in one study and about 96 percent in monozygotic pairs versus about 27 percent in dizygotic pairs in the second study.
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What genetic ds associated with Autistic Ds
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Fragile X syndrome, a genetic disorder in which a portion of the X chromosome fractures, appears to be associated with autistic disorder
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Approximately ? percent of children with autistic disorder also have fragile X syndrome
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1%
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Difference between Fragile X and Autistic Ds
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Children with fragile X syndrome tend to show gross motor and fine motor difficulties as well as relatively poorer expressive language compared with children with autism without fragile X syndrom
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Other than Fragile X, any other genetic syndrome associated with Aut?
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. Up to 2 percent of children with autistic disorder may also have tuberous sclerosis.
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Describe Tuberous sclerosis
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Tuberous sclerosis, a genetic disorder characterized by multiple benign tumors, with autosomal dominant transmission is found with greater frequency among children with autistic disorder
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Chromo's most associated with autism?
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2 and 7
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Evidence to support "refrigerator" mother?
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no validity
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Approximately ? percent of children with autistic disorder have mental retardation. About ? of these children have mild to moderate mental retardation, and close to ? of these children are severely or profoundly mentally retarded
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Approximately 70 percent of children with autistic disorder have mental retardation. About one third of these children have mild to moderate mental retardation, and close to half of these children are severely or profoundly mentally retarded
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Bio ds associated with autism?
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seizure disorder
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Of persons with autism, ? percent have grand mal seizures at some time, and about ? percent show ventricular enlargement on computed tomography (CT) scans
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Of persons with autism, 4 to 32 percent have grand mal seizures at some time, and about 20 to 25 percent show ventricular enlargement on computed tomography (CT) scans
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arious electroencephalogram (EEG) abnormalities are found in ? percent of autistic children, and although no EEG finding is specific to autistic disorder, there is some indication of ?
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arious electroencephalogram (EEG) abnormalities are found in 10 to 83 percent of autistic children, and although no EEG finding is specific to autistic disorder, there is some indication of failed cerebral lateralization.
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Recently, one magnetic resonance imaging (MRI) study revealed hypoplasia of cerebellar vermal lobules VI and VII, and another MRI study revealed cortical abnormalities, particularly polymicrogyria, in some autistic patients. Those abnormalities may reflect abnormal
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cell migrations in the first 6 months of gestation
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Autistic disorder is also associated with neurological conditions, notably ? ? ?
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Autistic disorder is also associated with neurological conditions, notably congenital rubella, phenylketonuria (PKU), and tuberous sclerosis
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Autistic children have higher than expected histories of ? compared with the general population and also compared with children with other psychiatric disorders.
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perinatal complications
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The finding that autistic children have significantly more minor ? physical anomalies than expected suggests abnormal development within the ? trimester of pregnancy.
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congenital
first |
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Maternal bleeding after the first trimester and meconium in the amniotic fluid have been reported in the histories of autistic children (less, equally, more) often than in the general population
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MORE
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In the neonatal period, autistic children have a high incidence of ?
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respiratory distress syndrome and neonatal anemia
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Males with autism, as a group, have been found to be the products of longer ? and were (lighter, heavier) at birth than babies in the general population.
Females with autism are more likely to be the product of ?(pre-term, term, post-term) pregnancies than babies in the general population. |
Males with autism, as a group, have been found to be the products of longer gestational age and were heavier at birth than babies in the general population. Females with autism are more likely to be the product of postterm pregnancies than babies in the general population.
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The neuroanatomical basis of autism remains unknown; however, recent evidence suggests that enlargement of ? volumes, but not ? volumes, are present in children with autistic disorder at 2 years of age
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The neuroanatomical basis of autism remains unknown; however, recent evidence suggests that enlargement of gray and white matter cerebral volumes, but not cerebellar volumes, are present in children with autistic disorder at 2 years of age
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Head circumference and autism?
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Head circumference appears normal at birth, and the increased rate of head circumference growth appears to emerge at about 12 months of age
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Previous MRI studies comparing autistic subjects and normal controls revealed total brain volume was (smaller, equal, large) in those with autism, although autistic children with severe mental retardation generally have (larger, smaller) heads
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Previous MRI studies comparing autistic subjects and normal controls revealed total brain volume was larger in those with autism, although autistic children with severe mental retardation generally have smaller heads
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Autism: The greatest average percentage increase in brain lobe size occurred in the ?.
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The greatest average percentage increase in size occurred in the occipital lobe, parietal lobe, and temporal lobe.
No differences were found in the frontal lobes |
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The ? lobe is believed to be one of the critical areas of brain abnormality in autistic disorde
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temporal
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What is evidence of temporal lobe damage being associated with autism?
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When the temporal region of animals is damaged, normal social behavior is lost, and restlessness, repetitive motor behavior, and a limited behavioral repertoire are seen
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Some brains of autistic individuals exhibit a decrease in ?, which is believed to account potentially for abnormalities of attention, arousal, and sensory processes.
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cerebellar Purkinje's cells
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A number of studies in the last few decades have demonstrated that about one third of patients with autistic disorder have high plasma ? concentrations.
This finding, however, is not specific to autistic disorder, and persons with mental retardation without autistic disorder also display this trait. |
serotonin
Some evidence indicates that symptom severity decreases as the ratio of 5-hydroxyindoleacetic acid (5-HIAA, metabolite of serotonin) to homovanillic acid in CSF increases |
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In some autistic children, a high concentration of ? in cerebrospinal fluid (CSF) is associated with increased withdrawal and stereotypes
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homovanillic acid (the major dopamine metabolite)
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The ? concentration in CSF may be inversely proportional to blood serotonin concentrations, which are ?(decreased, increased) in one third of autistic disorder patients, a nonspecific finding that also occurs in mentally retarded persons.
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The 5-HIAA concentration in CSF may be inversely proportional to blood serotonin concentrations, which are increased in one third of autistic disorder patients, a nonspecific finding that also occurs in mentally retarded persons.
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Studies comparing parents of autistic children with parents of normal children have shown ? differences in child-rearing skills
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Studies comparing parents of autistic children with parents of normal children have shown no significant differences in child-rearing skills
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Phsyical anomalies associated with autism?
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ear malformations
ambidexterirty abnormal fingerprints |
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One description of the cognitive style of children with autism is that they cannot
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infer the feelings or mental state of others around them
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Autism and cogntive style?
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That is, they cannot make attributions about the motivation or intentions of others and, thus, cannot develop empathy. This lack of a “theory of mind” leaves them unable to interpret the social behavior of others and leads to a lack of social reciprocation.
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DSM Criteria Autism?
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1. 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: 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) 4. lack of social or emotional reciprocity 2. qualitative impairments in communication as manifested by at least one of the following: 1. 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) 2. in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others 3. stereotyped and repetitive use of language or idiosyncratic language 4. 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: 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 2. 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. 3. The disturbance is not better accounted for by Rett's disorder or childhood disintegrative disorder. |
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Unlike normal young children, who generally have better receptive language skills than expressive ones, verbal autistic children may
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say more than they understand.
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About ? percent of autistic children never develop useful speec
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50%
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what is more common in autism: hyper or hypokinesis?
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hyper
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Young children with autistic disorder have been reported to have a higher-than-expected incidence of what GMC's?
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upper respiratory infections and other minor infections
gi sx: burping,abn bwl mvmts febrile seizures infection without malaise, temp |
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Path of usual autism assessment
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Family note abn language
reassured but persists get hearing tested, n developmental assessment done + rule out GMC with EEG, CT and Genetic testing (screening + chromosome analysis) Speech and Language Therapy Psych Testing: IQ Monitor for seizures |
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About ? percent of children with autistic disorder function in the mentally retarded range of intellectual function. About ? percent of children function in the mild to moderate range, and about ? percent are severely to profoundly mentally retarded
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About 70 to 75 percent of children with autistic disorder function in the mentally retarded range of intellectual function. About 30 percent of children function in the mild to moderate range, and about 45 to 50 percent are severely to profoundly mentally retarded
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About ? of all autistic children have a normal, nonverbal intelligence
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20%
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The IQ scores of autistic children tend to reflect most severe problems with ? and ? skills, with relative strengths in ? or ? skills
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The IQ scores of autistic children tend to reflect most severe problems with verbal sequencing and abstraction skills, with relative strengths in visuospatial or rote memory skills
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Unusual or precocious cognitive or visuomotor abilities occur in some autistic children. The abilities, which may exist even in the overall retarded functioning, are referred to as ? e.g.s
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Unusual or precocious cognitive or visuomotor abilities occur in some autistic children. The abilities, which may exist even in the overall retarded functioning, are referred to as splinter functions or islets of precocity.
memory, calculation, hyperlexia, musical reciting |
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DDX of Autism?
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Asperger's other PDD
Sz with childhood onset Hearing Ds Psychosocial Deprivation MR Mixed receptive-expressive language ds |
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Steps to making Autism Diagnosis
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1. Determine intellectual level
2. Determine level of language development 3. Consider whether child's behavior is appropriate for 1. chronological age 2. mental age 3. language age 4. If not appropriate, consider differential diagnosis of psychiatric disorder according to 1. pattern of social interaction 2. pattern of language 3. pattern of play 4. other behaviors 5. Identify any relevant medical conditions 6. Consider whether there are any relevant psychosocial factors |
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Schizophrenia is rare in children under the age of ?
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5
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Compare Autism and Childhood Onset Sz
Age: Incidence: Gender Ratio: Fam Hx of Sz SES Prenatal and Perinatal complications Behaviour characteristics Adaptive Fxn Level of Intelligence Pattern of IQ Grand Mal Seizures |
Age: A Before age 3 vs >5Sz
Incidence: 2to 5/10, 000 A; Sz? Gender Ratio: 3 to 4:1 A; Sz almost equal Fam Hx of Sz: +in Sz SES: A>in higher SES (artifact); Sz >in lower SES Prenatal and Perinatal complications: > in Autism Behaviour characteristics:Sz, just Del/H; Autism: speech, social, restricted behaviours Adaptive Fxn: A usually impaired; Sz deteriorates Level of Intelligence: 70% impaired; Sz: usualy Normal to dull normal Pattern of IQ: uneven vs Sz even Grand Mal Seizures: > in Autism |
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he main differentiating features between autistic disorder and mental retardation are that mentally retarded children usually
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relate to adults and other children in accordance with their mental age,
use the language they do have to communicate with others, and exhibit a relatively even profile of impairments without splinter functions. |
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Mixed Receptive Expressive Language Ds vs Autistic Ds?
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Mixed:
equal sex ratio deafness possible +nonverbal few lang abnormalities articulation problems less impaired IQ More even IQ although lower verbal than performance +imaginative play |
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Congenital Deafness vs Autism?
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Autistic infants may babble only infrequently, whereas deaf infants have a history of relatively normal babbling that then gradually tapers off and may stop at 6 months to 1 year of age.
Deaf children respond only to loud sounds, whereas autistic children may ignore loud or normal sounds and respond to soft or low sounds. Unlike autistic children, deaf children usually relate to their parents, seek their affection, and enjoy being held as infants |
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Autistic children with IQs above ? and those who use communicative language by ages? years tend to have the best prognoses
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Autistic children with IQs above 70 and those who use communicative language by ages 5 to 7 years tend to have the best prognoses
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Recent follow-up data comparing high-IQ autistic children at the age of 5 years with their current symptomatology at ages 13 through young adulthood found that a small proportion no longer met criteria for autism, although they still exhibited some features of the disorder. Most demonstrated positive changes in ? and ? domains over time.
The symptom areas that did not seem to improve over time were those related to ? and ? behaviors |
Most demonstrated positive changes in communication and social domains over time
The symptom areas that did not seem to improve over time were those related to ritualistic and repetitive behaviors |
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In general, adult-outcome studies indicate that about ? of autistic adults remain severely handicapped and live in complete dependence or semidependence, either with their relatives or in long-term institutions.
? percent acquires a normal, independent status with gainful employment, and ? percent achieve a borderline normal status |
2/3rds
Only 1 to 2 percent acquires a normal, independent status with gainful employment, and 5 to 20 percent achieve a borderline normal status |
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Goals of Autism Therapy?
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Increase prosocial behaviours
Improve communication Decrease odd behaviours Increase parent understanding and support Improve school fxn |
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Tx for Autism?
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parent education, training
behavioural programs intense Rx to target problem sx; i.e., aggression |
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What is facilitated communication?
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Facilitated communication is a technique by which an autistic or a mentally retarded child with some language is aided in communication by a teacher who helps the child pick out letters on a computer or letter board
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Specific drugs used in autism?
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escitalopram some evidence of reduced irratability
methylphenidate, better than placebo in 50% of subjects (lower response rate than ADHD without PDD) |
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Risperidone use in Autism for what sx?
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aggression
hyperactivity self-injury |
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Common sx of risperdione vs placebo in childrne?
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Somnolence (12 percent vs. 37 percent),
excessive appetite (10 percent vs. 33 percent), and rhinitis (8 percent vs. 16 percent) |
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The side effects of risperidone that caused the most concern were ? and ?
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The side effects that caused the most concern were somnolence and weight gain
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Evidence of other antipsychotics in autism?
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haldol has evidence but EPS
seroquel, olanz, cloz not much evidence but can be used |
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In the amantadine study, ? percent of children on amantadine were rated “improved” by their parents, and ? percent of children on placebo were rated “improved” by parents in irritability and hyperactivity
this difference (was or was not)statistically significant. |
In the amantadine study, 47 percent of children on amantadine were rated “improved” by their parents, and 37 percent of children on placebo were rated “improved” by parents in irritability and hyperactivity, although this difference was not statistically significant.
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A double-blind, placebo-controlled study of the efficacy of the anticonvulsant ? on hyperactivity in children with autism showed high rates of placebo improvement in ratings of hyperactivity
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lamotrigine
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Clomipramine (Anafranil) has been used in autistic disorders
with or without positive results |
without
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?, a coenzyme that enhances the action of enzymes, has recently been used in a double-blind placebo-controlled crossover study of 12 children with autistic disorder and low concentrations of spinal ?. results suggest that there is a possible effect of ? on the ? functioning of children with autism.
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Tetrahydrobiopterin
results suggest that there is a possible effect of tetrahydrobiopterin on the social functioning of children with autism. |
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Rett's disorder: when does health growth decelerate?
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Between 5 and 48 months of age, generally between 6 months and a year, head growth begins to decelerate.
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What disorder?
During the first 5 months after birth, infants have age-appropriate motor skills, normal head circumference, and normal growth. Social interactions show the expected reciprocal quality. At 6 months to 2 years of age, however, these children develop progressive encephalopathy with a number of characteristic features. The signs often include the loss of purposeful hand movements, which are replaced by stereotypic motions, such as hand-wringing; the loss of previously acquired speech; psychomotor retardation; and ataxia. Other stereotypical hand movements may occur, such as licking or biting the fingers and tapping or slapping. The head circumference growth decelerates and produces microcephaly. All language skills are lost, and both receptive and expressive communicative and social skills seem to plateau at developmental levels between 6 months and 1 year. Poor muscle coordination and an apraxic gait with an unsteady and stiff quality develop. |
Rett's Disorder
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DSM Criteria for Rett's DS?
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1. 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 2. 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 (e.g., 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 |
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Childhood disintegrative disorder is characterized by ? after at least X years of apparently normal development.
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Childhood disintegrative disorder is characterized by marked regression in several areas of functioning after at least 2 years of apparently normal development.
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DSM Criteria for Childhood Dis Ds
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1. 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.
2. 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 3. 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 stereotypies and mannerisms 4. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia. |
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Compare Childhood Dis Ds to Retts and Autism
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In Autism, see abn lanuage earlier on but in CDD, normal language to age 2
Retts, deteriotation occurs earlier Retts, see hand stereotypies but not in disintegrative ds |
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Unlike autistic disorder, in Asperger's disorder no significant delays occur in
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language, cognitive development, or age-appropriate self-help skills
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Asperger's Ds Criteria
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1. 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 2. 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 3. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. 4. 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). 5. 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. 6. Criteria are not met for another specific pervasive developmental disorder or schizophrenia. |