Prevalence of partial cerebroside sulfate sulfatase (arylsulfatase A) defect in adult psychiatric patients.

Metachromatic leukodystrophy (MLD) is a disease caused by a deficiency of the enzyme sulfatide sulfatase, also known as arylsulfatase A (ASA). We compared the activity of this enzyme in adult psychiatric patients and normal volunteers using nitrocatechol sulfate (ASA-NCS) and cerebroside sulfate (ASA-CS) as substrates. Our results showed that ASA-NCS activity in urine and leukocytes was significantly lower in psychiatric than in normal individuals, but that there were no differences between these two groups in the sulfatide excretion in urine or the ASA-CS activity in leukocytes. There was no correlation between enzyme activity in urine and in leukocytes, indicating that activity in urine does not truly reflect the levels of the enzyme in tissues. The correlation between ASA-NCS and ASA-CS activity in leukocytes was poor (0.51 for psychiatric patients and 0.59 for normals), suggesting that for a valid measure of the enzyme activity the assays should be carried out with CS as substrate. Results of our study also indicate that in 39 of the 145 psychiatric patients studied, the ASA-CS activity in leukocyte was less than 4 nmoles/mg protein/hr, which is below 50% of the normal means, whereas only one of the 30 normal subjects had a value this low. The presence of low levels of ASA-CS activity in a significantly large number of adult patients with varying psychiatric manifestations suggests that such patients may be asymptomatic carriers of the sulfatidase defect (heterozygotes for MLD), and that behavioral and functional disturbances in these patients may at least in part be related to sulfatidase deficiency. The significance of the ASA-NCS abnormality (reduction) in psychiatric patients is unclear.

Palpable lymph nodes in healthy newborns and infants.

We examined 548 healthy neonates and infants to document the frequency, size, and location of palpable lymph nodes. The subjects consisted of 214 neonates from birth to 4 weeks of age and 334 infants from 4 weeks to 1 year of age. All of the infants were asymptomatic and had been free of major or minor systemic or cutaneous infections in the past. Of the 214 neonates, 73 (34%) had palpable nodes at one or more sites. Of the 334 infants, 190 (57%) had palpable lymph nodes. Inguinal, cervical, and axillary lymph nodes can be palpable in neonates and infants. Supraclavicular nodes are not generally palpable. The commonest site of palpable nodes is the inguinal area in neonates and the cervical area in older infants. It would appear that the palpable nodes noted in the neonatal period do not disappear but persist. This knowledge is useful in determining when adenopathy may be abnormal.

More on human immunodeficiency virus embryopathy.

Eight patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex, ranging in age from 4 to 33 months, were evaluated for the presence of dysmorphic features recently described as human immunodeficiency virus embryopathy. Birth data and growth charts were available. Growth failure, a prominent box-like head, large wide eyes, and a well-formed philtrum were seen in the majority of patients. The significance of hypertelorism, obliquity of eyes, long palpebral fissures, blue scleras, depressed bridge of nose, and prominent upper vermilion border is discussed.

Cosleeping and sleep problems in Hispanic-American urban young children.

To assess whether the traditional pediatric prohibition against cosleeping in the parental bed requires reconsideration for urban ethnic minorities, cosleeping and sleep problems were studied in a sample of Hispanic-American, east Harlem, New York City, children 6 to 48 months of age. The incidence of frequent all-night cosleeping was found to be 21%, significantly higher than the documented rate of 6% found in a representative sample of white middle-American urban children of the same age and sex. For occasional cosleeping, however, there were no significant ethnic differences, and frequent part-night cosleeping was significantly less common than noted in the white sample. There were greater ethnic differences for sharing the parental bedroom compared with cosleeping in the parental bed, approximately 80% for Hispanic-Americans vs 10% for the white population. Within the Hispanic-American group, frequent all-night cosleeping was significantly more common among single parents and those living in multiple households and less common among infants and later-born children in the family. Frequent all-night cosleeping was also significantly associated with sleep problems.

Palpebral fissure length in black and Hispanic children: correlation with head circumference.

Palpebral fissure length and head circumference were measured in 170 black and 170 Hispanic normal children aged 1 month to 16 years. Eye measurement values were compared with those for white children. It was found that black children have longer palpebral fissures than whites and in certain age groups, than Hispanics. A statistically significant correlation between palpebral fissure length and head circumference was established in black children.

Norwegian scabies in an infant with acquired immunodeficiency syndrome.

A 6-month-old infant with acquired immunodeficiency syndrome (AIDS) and typical scabies subsequently developed Norwegian scabies, with deterioration of clinical status. The infestation spread to several health care workers who were in close contact with the patient, despite standard isolation precautions. In the rapidly growing hospitalized pediatric AIDS population, Norwegian scabies should be considered in the differential diagnosis of eczematous or seborrheic dermatitis.

Lifetime antipsychotic-drug exposure, dyskinesia and related movement disorders in the developmentally disabled.

The relationship between dyskinesia and related movement disorders was examined as a function of cumulative exposure to antipsychotic drugs (APD). Lifetime drug-exposure histories were obtained for 162 developmentally disabled (DD) persons; drug-exposed groups were compared to nondrug-exposed groups. There were no statistically significant relationships between dyskinesia and the amount of lifetime APD exposure, nor between dyskinesia and the number of long-term APDs, mean exposure, peak exposure, recency of exposure, duration of exposure, changes in medication levels, number of drug interruptions, age, gender, cerebral palsy, epilepsy, or IQ. Of the other movement disorders, a positive relationship was noted only between akathisia and long-term APD exposure; the increased prevalence of akathisia persisted beyond four years after APD withdrawal.

Dyskinesia, antipsychotic-drug exposure and risk factors in a developmentally-disabled population.

The relation between antipsychotic drug (APD) exposure and the prevalence of dyskinesia (DK) was examined in a large, developmentally-disabled (DD) population. Using qualitative data in a cross-sectional, retrospective design, the drug-exposed group was systematically compared with a non-drug-exposed group, controlling for age and gender. When the population was evaluated with no regard to APD-exposure, age and female gender were significant risk factors, as in many prior studies. When APD-exposure was considered, it proved to be a complex variable dependent on the recency of exposure to APD, and the outcome depended on the method of analysis: when APD-exposure was considered as a binomial variable (yes/no), the relationship between APD and DK was not significant; when APD-exposure was controlled for recency of exposure, however, a significant relationship between APD and DK was demonstrated (p less than 0.01) although the relationship accounted for less than 3% of the variance. Analysis of the relation between DK-prevalence and recency-of-APD-exposure revealed a pattern of diminished prevalence during APD use and increased prevalence during early withdrawal.

Incidence of major congenital malformations in offspring of alcoholics and polydrug abusers.

The incidence of major congenital malformations was compared in the offspring of mothers who abused alcohol only (group I), versus mothers who abused alcohol and opiates (group II) during pregnancy. In group I the percent of patients with malformations was 33, where as in group II it was 14. The prevalence of fetal alcohol syndrome was higher in blacks than Hispanics. Independent of race the alcohol-opiate combination seems less teratogenic to the fetus than alcohol alone.

Pediatricians' and psychologists' implicit personality theory: significance of sibling differences.

Pediatricians' and psychologists' implicit theories of how personality develops are compared to recent behavioral-genetic analyses based on twin and adoption studies. Results show that both practitioner groups--less so the psychologists--underestimate differences between children in the same family, over-estimate the influence of their shared environmental experiences, and underestimate those not shared. Findings mirror the bias of traditional personality research, pointing out the need to investigate environmental variables with differential impacts on children in the same family, e.g., sibling deidentification; one child extrovert, one introvert; one saint, one sinner.

Prevalence and prediction of psychotropic drug use in California developmental centers.

The extent of psychotropic drug use was evaluated in California's institutionalized developmentally disabled population (N = 6,450). Mean psychotropic drug use was 35.4% for the entire population (range = 13.7% to 63.6% across institutions), with antipsychotic drug use at 26.8% (range = 11.0% to 59.6%). Psychotropic drug use was positively associated with aggression, IQ, depression, and self-injurious behavior, ps less than .0001; it was inversely associated with cerebral palsy and epilepsy. When the influence of demographic and behavioral factors was controlled, significant institutional differences in drug use remained.

Gardner syndrome. Early presentation with a desmoid tumor. Discovery of multiple colonic polyps.

A 14-year-old patient who was eventually found to have Gardner syndrome initially presented at the age of 3 years with a desmoid tumor involving the scalp. A careful review of the family history revealed a high incidence of colonic cancer, which prompted endoscopic evaluation of the patient. The discovery of adenomatous polyps in the colon confirmed the diagnosis of Gardner syndrome. In patients with hard or soft tissue tumors, the possibility of Gardner syndrome should be kept in mind, and a thorough family history taken. Early diagnosis may prevent malignant transformation of colonic polyps.

False localization of seizure activity in the EEG.

Traditional theories of EEG localization are discussed, along with their limitations and contemporary attempts to minimize false localization. Sources of error include: erratic epileptiform activity, local destruction of generators, evoked responses, and autonomous secondary foci. Several cases are presented which are thought to represent false localization by virtue of incompetent generators. It is emphasized that "epileptiform activity" and "epileptogenicity" are not synonomous.

Interrater agreement and predictive validity of faculty ratings of pediatric residents.

In the study reported here attending faculty members completed a 14-item rating scale at the end of each clinical rotation in a general pediatrics residency training program. The rating scale items assessed medical knowledge, interpersonal and professional relationships, and attitudes toward education. Significant interrater agreement occurred primarily on those items concerning medical knowledge, and ratings on these items showed significant correlation with the external criterion of scores on the intraining examination of the American Board of Pediatrics. There was also significant interrater agreement for ratings on the item regarding relationship with coworkers. Intercorrelations of ratings on this item with those concerning medical knowledge were relatively low. There was no correlation between scores on the relationship item and subsequent intraining examination scores.

Differentiating the effects of three benzodiazepines on non-REM sleep EEG spectra. A neural-network pattern classification analysis.

Neural-network pattern classifiers were used to study the effects of long half-life flurazepam (30 mg) and quazepam (15 mg), and short half-life triazolam (0.5 mg) on non-REM sleep. We measured the magnitude of effect, time course, and EEG spectral signature of the three benzodiazepines as a function of third-of-night. Of the three benzodiazepines studied, flurazepam had the largest effect and quazepam had the most stable time course. The effects of triazolam were similar to those of quazepam. These EEG differences may prove to be more clinically useful markers than the usual measurement of plasma levels, and may be used to guide the therapy of sleep disorders.

Assessment of knowledge and clinical judgment in the pediatric residency.

Multiple-choice examinations were given three times each year in a pediatric residency training program. The test scores correlated highly with subsequent scores on the intraining examination of the American Board of Pediatrics. The results were replicated and cross-validated in another study the following year. Use of the local tests and the board examination to evaluate the residents makes it possible to provide continual feedback to the residents regarding the adequacy of their performance and feedback to faculty members regarding the effectiveness of the program. Local test scores can be used to predict the residents' standing on the national examination, and they provide a sound basis for counseling individual residents and for improving specific components of the training program.