The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.

PURPOSE: A genetics evaluation of children with pervasive developmental disorders (PDDs) identifies a diagnosis in 6% to 15% of cases. However, previous studies have not measured the incidence of genetic disorders among children with autistic-like features who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria for PDD. METHODS: We identified 101 patients at our institution referred for PDD, autism, Asperger syndrome, or autistic features. Seventy-eight were males and 23 were females, giving a male-to-female ratio of 3.4:1. No diagnosis was identified on examination alone, although Rett syndrome was suspected in six females. Seventeen patients did not undergo any type of testing because of noncompliance. RESULTS: Of the remaining 84 patients analyzed, seven (8.3%) were found to have abnormalities on testing. Three chromosomal anomalies were found: one with 5p duplication, one with low-level mosaicism for trisomy 21, and one with an unbalanced 10;22 translocation. Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation. The remaining patient was found to have an elevated urine orotic acid, with a normal ammonia level, of unknown significance. CONCLUSION: On the basis of our series, the yield of a genetics evaluation in patients with features of PDD who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria is 8.3%. Approximately half of these were the result of a chromosomal abnormality. Three cases of Rett syndrome were identified for which autistic behaviors are a well-described feature. These findings suggest that a high-resolution karyotype provides the greatest diagnostic yield for patients with autistic-like features. MECP2 analysis should be considered for females who present with autistic behaviors.     

Effects of cognitive behavioral therapy on work outcomes in vocational rehabilitation for participants with schizophrenia spectrum disorders

Designed to help persons with schizophrenia to persist and perform better at job placements, the Indianapolis Vocational Intervention Program (IVIP) is a program of cognitive-behavioral group and individual interventions. While its feasibility has been previously demonstrated, it is unknown whether IVIP assists persons to achieve greater levels of participation in vocational rehabilitation and higher levels of job performance. In this study, 100 participants with schizophrenia or schizoaffective disorder were offered a six month job placement and randomized to receive IVIP (n = 50) or support services (n = 50) matched for treatment intensity. Number of hours worked was recorded weekly and job performance was assessed biweekly using the Work Behavior Inventory with raters blind to condition. t-tests revealed that participants in the IVIP group worked a significantly greater number of weeks than those in the support condition. Also, repeated measures ANOVA revealed the IVIP group worked more hours across that 26 week period as well. And with regards to work performance, repeated measures of the 56 participants who worked for at least two-thirds of the intervention revealed that participants in the IVIP group had generally better work performance than those in the support condition. Results suggest a connection between cognitive-behavioral interventions and higher levels of work performance in people with schizophrenia.     

Imaging findings in patients with clinical anophthalmos.

PURPOSETo review the intracranial and facial imaging features in children with congenital anophthalmos.METHODSWe retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain).RESULTSThree patients had primary bilateral anophthalmos on CT (n = 1) and MR (n = 3) studies. In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n = 3), agenesis (n = 1) or dysgenesis of the corpus callosum (n = 2), and a mass in the tuber cinereum region (n = 1). One patient had incontinentia pigmenti. Five patients had unilateral anophthalmos on CT (n = 5) and MR (n = 1) studies. One of these patients had a contralateral congenital cystic eye and one had contralateral severe microphthalmia and absent optic chiasm. All had craniofacial anomalies that consisted of midline facial clefts (n = 2) and concomitant hemifacial hypoplasia (n = 2). One had a craniosynostosis. All five had normal-appearing brains.CONCLUSIONPatients with bilateral anophthalmos represent a distinct group from those with unilateral anophthalmos. In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the corpus callosum. Patients with unilateral anophthalmos had severe craniofacial anomalies. Imaging of the face is helpful in patients with unilateral anophthalmos.     

MR imaging in the management of extracranial malignant tumors of the head and neck.

Methods of treating malignant tumors of the extracranial portion of the head and neck have become more sophisticated. Cross-sectional imaging is extremely important in the evaluation of patients with a tumor in the head or neck. Although the complexities of head and neck radiology may be overwhelming, a uniform approach that first determines the location and extent of the primary tumor and then examines the nodal chains for metastatic adenopathy takes much of the mystery out of the process. MR imaging allows improved soft-tissue contrast and direct multiplanar acquisition of data, two advantages over CT. This review describes the current role of imaging in the clinical assessment of a patient with a malignant tumor in the head and neck, including the questions that must be answered before surgery and when MR imaging is the preferred technique.     

Factors associated with work-related injury among hospital employees: a case-control study.

The Central Arkansas Veterans Healthcare System (CAVHS) spends $1 million annually on occupational illnesses and injuries. To address the problem of injuries among hospital employees, a retrospective case-control study was conducted to examine select risk factors for work-related injuries (WRI) among CAVHS employees. Study methods included a review of employee health charts and computer and manual databases from 1997 to 2002 (N = 2,050). The researchers found that WRI increased with age; WRI occurred more often in women than in men; WRI was greater among maintenance and custodial staff compared to direct caregivers, and less among clerical staff; WRI occurred less often in part-time than full-time staff; and WRI increased with increasing body mass index. Developing standards, guidelines, and policies for preplacement screening, preventive measures, training, and education may help to minimize WRI and associated costs.     

Hereditary cholinesterase deficiency: A report of a family with two rare genotypes

Cholinesterase deficiency was detected in a young girl following an episode of post-anesthesia apnea. Subsequently, plasma and serum cholinesterase levels and dibucaine numbers were determined on blood samples from 56 members of her extended family. Including the proband, three individuals were identified with severe cholinesterase deficiency and 12 were found to have mild abnormalities. The occurrence of two genetic variants regulating cholinesterase production, the "silent" gene and the atypical enzyme, is postulated to account for the unusual pattern of inheritance in this family. Screening family members of confirmed cases is essential to prevent the potentially fatal consequences of this hereditary disorder.     

Neonatal phenotype in Kabuki syndrome

The Kabuki syndrome is a well-established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder. We ascertained 16 infants evaluated in the first 28 days of life by a dysmorphologist who subsequently received the diagnosis of Kabuki syndrome. The average age of initial evaluation was 8 days and the average age of diagnosis was 2 years 6 months. Based on these findings, it is suggested that the distinctive clinical phenotype seen in older patients is also evident in the newborn period.     

Postoperative dilation of knitted Dacron aortic bifurcation graft

Dilation is the most common inherent "failure mode" of knitted Dacron aortic prostheses. However, the incidence of graft failure related to dilation is unknown because of insufficient data regarding the occurrence, degree, and prognostic significance of postoperative alterations in graft size. In 1979 we reported that postoperative ultrasonic examinations in 95 asymptomatic patients, selected at random after aortic surgery, revealed dilation of the aortic portion of knitted Dacron bifurcation grafts. The average follow-up was 33 months, and the mean dilation was 18%. This article provides the results of a later follow-up, averaging 175 months, in 32 patients from the 1979 study. CT scanning, rather than ultrasonic imaging, was used to evaluate all parts of the grafts. CT scans disclosed that the three parts of each graft dilated, but the parts did not always dilate uniformly. Mean percent dilation values for the entire series were aortic portion 67% +/- 38% SD; right limb 77% +/- 66% SD; left limb 54% +/- 26% SD. Maximum percent dilation for any part of the grafts ranged from 26% to 367% with a mean of 94%. At least one part of the grafts dilated 100% or greater in 12 patients. Three patients had generalized and saccular dilation of the aortic portion of the prostheses and an anastomotic aortic aneurysm; one patient had a localized aneurysm in the midportion of the right limb. Three of the latter grafts were replaced with woven Dacron prostheses.     

Diagnosis of cerebral metastases: double-dose delayed CT vs contrast-enhanced MR imaging

For patients suspected of having cerebral metastases, double-dose delayed CT (DDD-CT) has proved significantly more sensitive than CT scans obtained immediately after administration of a lesser dose of iodinated contrast material. Previous reports confirm the advantages of postcontrast MR imaging over contrast-enhanced CT, but data comparing DDD-CT and contrast-enhanced MR have not been reported. This study describes comparative imaging results in 23 patients who had contrast-enhanced MR imaging to clarify equivocal findings on DDD-CT studies. Contrast-enhanced MR demonstrated more than 67 definite or typical parenchymal metastases. T2-weighted MR revealed more than 40, while DDD-CT revealed only 37 typical metastatic lesions. Three patients had five or fewer lesions on DDD-CT and lesions "too numerous to count" on MR. The frequency of equivocal or unconvincing lesions was similar on DDD-CT (11) and contrast-enhanced MR (10). On T2-weighted images, we noted a substantially higher number of equivocal lesions (19), fewer definite metastases, and a number of definite metastases that had no corresponding lesion on the enhanced studies, confirming the inability of T2-weighted imaging to specifically identify cerebral metastases. In one case, multiple tiny lesions on T2-weighted images were not apparent on DDD-CT scans and were recognized only in retrospect on contrast-enhanced MR images. In this series, MR with enhancement proved superior to DDD-CT for lesion detection, anatomic localization of lesions, and differentiation of solitary vs multiple lesions. Cost-benefit considerations precluded a comparison between the two techniques in all patients suspected of having cerebral metastases.(ABSTRACT TRUNCATED AT 250 WORDS)