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Biomedical subjects

B J Freeman

Publications and source records attributed to B J Freeman.

At least 37 records · Page 2Linked to original sources

Synchronous proctocolectomy and ileoanal pouch formation and the risk of Crohn's disease.

There is controversy on the advisability of one-stage proctocolectomy and the formation of an ileoanal pouch. Accurate preoperative diagnosis is essential to avoid the error of constructing a pouch in a patient with Crohn's disease. Twenty-four consecutive patients undergoing subtotal colectomy for inflammatory bowel disease were reviewed. All patients had been treated with systemic steroids, 23 were on 5-aminosalicylates and 11 on azathioprine. The preoperative diagnoses, based on a combination of clinical features, colonoscopy, barium enema and biopsy histology, were ulcerative colitis (19), Crohn's disease (four) and inflammatory bowel disease (unclassified) (one). The final diagnosis was made on histological examination of the resected specimen. A discrepancy between initial and final diagnosis occurred in eight patients. In three, the diagnosis was changed from ulcerative colitis to Crohn's disease. Three preoperative diagnoses of Crohn's disease were changed to ulcerative colitis (one), Behçet's disease (one) and diverticulitis (one) on final histology. These data suggest that caution should be exercised in performing synchronous proctocolectomy with the formation of an ileoanal pouch.

Adult↗

Spontaneous rupture of the anterior cruciate ligament after anabolic steroids.

Anabolic steroids remain popular among body builders and power athletes despite numerous warning about their side effects. A case of spontaneous rupture of the anterior cruciate ligament is reported in a bodybuilder taking steroids. While there are many published reports of tendon rupture associated with steroid intake, the authors could find no report relating to ligament disruption.

Adult↗

Comparison between diagnostic instruments for identifying high-functioning children with autism.

Two instruments for identifying autism in children and adolescents with intellectual abilities in the normal range were compared. Diagnostic tools consisted of the Autism Behavior Checklist (ABC) and the Autism Diagnostic Interview (ADI). The sample was composed of 18 children who were all diagnosed as having either infantile autism or infantile autism, residual state based on DSM-III criteria by a clinical team using observations, parental interviews, and interactions with the children. Only 4 of the children met diagnostic cutoffs for autism on the current ABC but all met criteria for diagnosis on the ABC using parental recall of the child's behavior at 3-5 years of age. The ADI had somewhat greater specificity in that 3 children did not meet criteria for diagnosis although 2 of these children also received ABC scores based on parental recollection that were in the borderline range.

Adolescent↗

Analysis of environmental deprivation: cognitive and social development in Romanian orphans.

The cognitive and social developmental status of a representative group of Romanian orphans between the ages of 23 and 50 months living in the Leagan de Copii in Timisoara, Romania was assessed using a variety of traditional and nontraditional measures. Results indicated that the orphanage sample all exhibited deficits in cognitive and social functioning; the majority were severely delayed. Correlations between the traditional and nontraditional measures indicated that children's delays occurred across domains. Deficits were not related to length of time in the orphanage, age at entrance, Apgar scores, or birthweight. The children's greatest capability was in peer social interaction.

Child, Abandoned↗

Field trial for autistic disorder in DSM-IV.

OBJECTIVE: This project focused on the development of the definition of autism for DSM-IV. METHOD: Multiple sites were involved in obtaining information regarding 977 patients with the following clinician-assigned diagnoses: autism (N = 454), other pervasive developmental disorders (N = 240), and other disorders (N = 283). A standard coding system was used, and the raters (N = 125) had a range of experience in the diagnosis of autism. Patterns of agreement among existing diagnostic systems were examined, as was the rationale for inclusion of other disorders within the class of pervasive developmental disorders. RESULTS: The DSM-III-R definition of autism was found to be overly broad. The proposed ICD-10 definition most closely approximated the clinicians' diagnoses. Inclusion of other disorders within pervasive developmental disorders appeared justified. Partly on the basis of these data, modifications in the ICD-10 definition were made; this and the DSM-IV definition are conceptually identical. CONCLUSIONS: The resulting convergence of the DSM-IV and ICD-10 systems should facilitate both research and clinical service.

Age of Onset↗

The stability of cognitive and behavioral parameters in autism: a twelve-year prospective study.

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.

Adolescent↗

Complex segregation analysis of autism.

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.

Autistic Disorder↗

The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation.

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.

Autistic Disorder↗

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases.

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.

Adult↗

The UCLA-University of Utah epidemiologic survey of autism: prenatal, perinatal, and postnatal factors.

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.

Apgar Score↗

The UCLA-University of Utah epidemiologic survey of autism: prevalence.

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.

Adolescent↗

Psychometric assessment of first-degree relatives of 62 autistic probands in Utah.

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.

Achievement↗

The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling.

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.

Autistic Disorder↗