ABSTRACT
Clinical descriptions of 14 adults with mild autism are presented. Structured questionnaires, extensive medical and social histories, and mental status examinations were conducted independently by several clinicians who concurred with the diagnoses of autism. These 14 patients demonstrate (1) that mild forms of autism can remain undiagnosed into adulthood; (2) that developmental histories and patients' reports may not provide evidence of developmental delays and characteristic symptoms during childhood despite their presence at adult mental status examination; (3) that mild previously undetected autism should be considered in the differential diagnoses of perplexing adult patients.
Subject(s)
Autistic Disorder/diagnosis , Adult , Aged , Female , Humans , Male , Middle Aged , Psychiatric Status Rating Scales , Severity of Illness IndexABSTRACT
This study examined the linkage between elevated blood serotonin in autism and the presence of circulating autoantibodies against the serotonin 5HT1A receptor. Information was also obtained on the diagnostic and receptor specificity of these autoantibodies. Blood serotonin was measured as was inhibition of serotonin binding to human cortical membranes by antibody-rich fractions of blood from controls and from patients with childhood autism, schizophrenia, obsessive-compulsive disorder, Tourette's, and multiple sclerosis. The results showed elevated blood serotonin was not closely related to inhibition of serotonin binding by antibody-rich blood fractions. Inhibition of binding was highest for patients with multiple sclerosis and was not specific to the 5HT1A receptor as currently defined. Although inhibition was not specific to autism, the data were insufficient to establish if people with autism differed from normal controls on this measure.
Subject(s)
Autistic Disorder/immunology , Autoantibodies/analysis , Receptors, Serotonin/immunology , Schizophrenia, Childhood/immunology , Serotonin/blood , Adolescent , Adult , Autistic Disorder/diagnosis , Autistic Disorder/psychology , Binding, Competitive/immunology , Child , Child, Preschool , Female , Frontal Lobe/immunology , Humans , Immunoglobulin G , Male , Middle Aged , Multiple Sclerosis/diagnosis , Multiple Sclerosis/immunology , Multiple Sclerosis/psychology , Myelin Basic Protein/immunology , Obsessive-Compulsive Disorder/diagnosis , Obsessive-Compulsive Disorder/immunology , Obsessive-Compulsive Disorder/psychology , Schizophrenia, Childhood/diagnosis , Schizophrenia, Childhood/psychology , Serotonin/immunology , Tourette Syndrome/diagnosis , Tourette Syndrome/immunology , Tourette Syndrome/psychologyABSTRACT
Magnetic resonance imaging measurements were obtained for 12 adults with DSM-III-defined autism and a matched group of 12 normal subjects. No significant differences were found for mean midsagittal areas of pons, fourth ventricle, cerebellar vermis, or vermis lobules. No significant brain abnormalities were observed in either group.
Subject(s)
Autistic Disorder/diagnosis , Brain/anatomy & histology , Magnetic Resonance Imaging , Adolescent , Adult , Age Factors , Cerebellum/anatomy & histology , Cerebral Ventricles/anatomy & histology , Female , Humans , Male , Pons/anatomy & histologyABSTRACT
A complex segregation analysis of autism in 185 Utah families was carried out using the mixed model. The 209 affected individuals in these families represent nearly complete ascertainment of the autistic cases born in Utah between 1965 and 1984. The sibling recurrence risk for autism was 4.5% (95% confidence limits 2.8%-6.2%). Likelihoods were maximized for major-gene models, a polygenic model, a sibling-effect model, and a mixed model consisting of major-gene and shared-sibling effects. The analysis provided no evidence for major-locus inheritance of autism. Subdivision of the sample according to the probands' IQ levels showed that sibling recurrence risk did not vary consistently with IQ level. A segregation analysis of families in which the proband had an IQ less than 50 also failed to provide evidence for a major locus. However, because of the etiologic heterogeneity of this disorder, genetic analysis of other meaningful subsets of families could prove informative.
Subject(s)
Autistic Disorder/genetics , Autistic Disorder/epidemiology , Female , Humans , Male , Models, Genetic , Prevalence , Psychological Tests , Statistics as Topic , Utah/epidemiologyABSTRACT
Chronic fenfluramine treatment reduced whole blood serotonin and CSF 5-hydroxyindoleacetic acid, but increased aggressive and locomotor behavior, in adult male vervet monkeys (Cercopithecus aethiops sabaeus). Following a drug-free washout period to monitor the drug recovery course, we initiated a second period of fenfluramine treatment in the same animals. When whole blood serotonin concentrations were reduced by about 40% from predrug baseline levels, we examined 11 cortical and subcortical brain regions for their content of 5-hydroxytryptamine, 5-hydroxyindoleacetic acid, norepinephrine, and dopamine. We observed correspondence between the reduction in whole blood serotonin and the reduction in brain 5-hydroxytryptamine. Similarly, there was a correspondence between the reduced 5-hydroxyindoleacetic acid levels observed in CSF and brain. No alterations were noted in the concentrations of norepinephrine or dopamine. These observations suggest that the behavioral effects observed in monkeys after chronic fenfluramine treatment result from reduced central serotonin.
Subject(s)
Fenfluramine/pharmacology , Serotonin/physiology , Animals , Brain Chemistry/drug effects , Chlorocebus aethiops , Male , Neurotransmitter Agents/cerebrospinal fluid , Neurotransmitter Agents/metabolism , Serotonin/bloodABSTRACT
Sixty-two autistic patients enrolled in a prospective study an average of 12 years ago. Current retesting results are now available on 53 of the original 62 patients (85.5%). Results indicate that 36 (67.9%) achieved scores within their original IQ group. Twelve (22.6%) moved up IQ groups and five (9.4%) moved down. Of particular clinical importance is the observation that Vineland Adaptive Behavior Scores were consistently lower than cognitive scores, and maladaptive behaviors occurred with equal frequency in the high, medium, and low IQ groups. The implications of this new data for understanding the natural history of autism, educational and vocational planning, and future research are discussed.
Subject(s)
Autistic Disorder/diagnosis , Psychological Tests , Social Adjustment , Adolescent , Adult , Autistic Disorder/psychology , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Intelligence Tests , Male , Prospective Studies , Wechsler ScalesABSTRACT
Twelve rare diseases known to cause CNS pathology were found in 26 (11%) of 233 autistic probands identified during a recent epidemiologic survey of Utah. These 26 probands had significantly lower mean IQs than the remaining patients (43 versus 60) but similar sex distribution and prevalence of abnormal EEGs and seizures. The rarity and diversity of these 12 diseases make it highly unlikely that they randomly occurred with autism. Their presence in this epidemiologic survey is the most compelling evidence to date to support the hypothesis that different diseases producing different types of CNS pathology can play an etiologic role in autism.
Subject(s)
Autistic Disorder/epidemiology , Central Nervous System Diseases/epidemiology , Adult , Autistic Disorder/etiology , Brain Diseases/complications , Brain Diseases/diagnosis , Brain Diseases/epidemiology , Central Nervous System Diseases/complications , Central Nervous System Diseases/diagnosis , Child , Comorbidity , Electroencephalography , Epilepsy/complications , Epilepsy/diagnosis , Epilepsy/epidemiology , Female , Humans , Intelligence Tests , Male , Utah/epidemiologyABSTRACT
In a recent epidemiologic survey conducted in Utah, 241 autistic patients (DSM-III criteria) were found. Medical records of 233 autistics were surveyed for the presence of 36 potentially pathologic prenatal, perinatal, and postnatal factors. These results were compared with those of an identical survey of 62 of their nonautistic siblings, with the results of four previously published surveys, and with normative data. No potentially pathologic factor or group of factors occurred significantly more frequently among the autistic patients. Also, previous observations of significant differences in the occurrence of certain factors in the histories single vs multiple siblings with autism were not confirmed, with the exception of increased viral-type illness during gestation in single-incidence cases. Thus, the etiology of the brain pathology that characteristically disrupts normal development and produces the syndrome of autism remains obscure. Other data from the epidemiologic survey, however, suggest that the role of genetic factors needs to be explored further.
Subject(s)
Autistic Disorder/epidemiology , Apgar Score , Autistic Disorder/etiology , Delivery, Obstetric , Epidemiologic Methods , Family , Female , Gestational Age , Humans , Infant, Newborn , Male , Maternal Age , Perinatology , Pregnancy , Pregnancy Complications , UtahABSTRACT
To assess familial aggregation of autism, 86 autistic subjects were linked to the Utah Genealogical Database. Kinship coefficients were estimated for all possible pairs of autistic subjects and then averaged. Fifty replicate sets of matched control subjects (86 members in each set) were drawn randomly from the database, and the average kinship coefficient was computed for all possible pairs of individuals in each set. The average kinship coefficient for the autistic subjects was approximately 1/1,000, while the average kinship coefficients for the 50 control groups ranged from 4/100,000 to 1.6./10,000. These results indicate a strong tendency for autism to cluster in families. When kinship was analyzed by specific degrees of relationship, it was shown that the familial aggregation of autism is confined exclusively to sib pairs and does not extend to more remote degrees of relationship. This finding indicates that a single-gene model is unlikely to account for most cases of autism.
Subject(s)
Autistic Disorder/genetics , Autistic Disorder/epidemiology , Cluster Analysis , Epidemiologic Methods , Female , Humans , Information Systems , Male , Utah/epidemiologyABSTRACT
The authors recently reported, in this journal, an epidemiologic survey of autism in Utah. Twenty (9.7%) of the 207 families ascertained had more than one autistic child. Analyses of these data revealed that autism is 215 times more frequent among the siblings of autistic patients than in the general population. The overall recurrence risk estimate (the chance that each sibling born after an autistic child will develop autism) is 8.6%. If the first autistic child is a male the recurrence risk estimate is 7%, and if a female 14.5%. These new recurrence risk estimates should be made available to all individuals who have autistic children and are interested in family planning.
Subject(s)
Autistic Disorder/epidemiology , Autistic Disorder/genetics , Birth Order , Epidemiologic Methods , Family Characteristics , Female , Genetic Counseling , Humans , Intelligence , Male , Religion , Risk Factors , Sex Ratio , UtahABSTRACT
Magnetic resonance imaging did not diagnose neuropathology in 15 autistic patients. Measurements of the midsagittal area and volume of the fourth ventricle did not differ between these patients and matched control subjects.
Subject(s)
Autistic Disorder/diagnosis , Brain/pathology , Magnetic Resonance Imaging , Adolescent , Adult , Cerebral Ventricles/pathology , Child , Child, Preschool , Female , Humans , MaleABSTRACT
The Wechsler Intelligence Scales, Wide Range Achievement Test, and the Shipley-Hartford Test were administered to 122 parents and 153 siblings of 62 autistic probands in Utah. Scores were distributed as expected within the published normative ranges for each scale. Parents' scores correlated with those of their nonautistic children, but neither parents' nor siblings' scores correlated with the IQ level of the autistic probands. These results do not confirm prior reports from England and the United States of a high rate of cognitive and learning problems in the siblings of autistic individuals, nor the aggregation of such problems in the siblings of probands with high or low levels of cognitive function.
Subject(s)
Autistic Disorder/genetics , Family , Psychological Tests , Achievement , Adult , Autistic Disorder/psychology , Child , Fathers/psychology , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Learning Disabilities/diagnosis , Learning Disabilities/genetics , Male , Mothers/psychology , Wechsler ScalesABSTRACT
The authors conducted an epidemiologic survey in Utah using a four-level ascertainment system, blind current diagnostic assessments, and DSM-III criteria. Of 483 individuals ascertained, 241 were diagnosed as having autism. The best estimate for the prevalence rate was 4 per 10,000 population. Autism was not associated with parental education, occupation, racial origin, or religion. Sixty-six percent of the autistic subjects scored below 70 on standardized IQ tests, and females scored proportionately lower than males. Twenty (9.7%) of 207 families had more than one autistic sibling, which supports the authors' previous finding that there may be a familial subtype of autism.
Subject(s)
Autistic Disorder/epidemiology , Adolescent , Adult , Autistic Disorder/genetics , Autistic Disorder/psychology , Child , Child, Preschool , Cross-Sectional Studies , Educational Status , Ethnicity , Female , Humans , Intelligence , Male , Occupations , Parents , Religion , Sex Factors , Social Class , UtahSubject(s)
Autistic Disorder/psychology , Psychological Tests , Social Adjustment , Wechsler Scales , Adolescent , Child , Female , Humans , MaleABSTRACT
The authors recorded electroretinograms for 27 autistic patients and 20 age- and sex-matched healthy volunteers. Thirteen (48%) of the autistic patients demonstrated subnormal b-wave amplitudes, which may indicate abnormal retinal function. One patient was tested serially at two sites; his low b-wave amplitude did not vary over time or between the two sites. If this retinal finding can be confirmed at other laboratories and in larger samples of autistic patients, it might provide a marker for a specific subtype of autism.
